#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
AADACL3	126767	broad.mit.edu	37	1	12785683	12785683	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr1:12785683T>C	ENST00000359318.5	+	4	978	c.773T>C	c.(772-774)gTa>gCa	p.V258A	AADACL3_ENST00000332530.3_Missense_Mutation_p.V188A	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	258							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TACTTGGAAGTAAGTGTTGTC	0.502																																						uc009vnn.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(772-774)gTa>gCa		Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.							117.0	117.0	117.0					1																	12785683		2049	4199	6248	SO:0001583	missense	126767						hydrolase activity	g.chr1:12785683T>C		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.773T>C	1.37:g.12785683T>C	ENSP00000352268:p.Val258Ala					AADACL3_uc001aug.1_Missense_Mutation_p.V188A	p.V258A	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	1006	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	258					B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	c.773T>C	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	T	8.348	0.830224	0.16749	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.10477	2.87;2.87	5.56	0.154	0.14901	Alpha/beta hydrolase fold-3 (1);	1.099080	0.06797	N	0.788072	T	0.04907	0.0132	N	0.05330	-0.07	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.12837	0.004;0.008	T	0.45175	-0.9279	10	0.16896	T	0.51	-0.869	4.2696	0.10780	0.1638:0.3134:0.0:0.5228	.	258;188	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	A	188;258	ENSP00000333352:V188A;ENSP00000352268:V258A	ENSP00000333352:V188A	V	+	2	0	AADACL3	12708270	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.086000	0.14935	0.280000	0.22209	-0.425000	0.05940	GTA		0.502	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170	
MROH9	80133	broad.mit.edu	37	1	170964598	170964598	+	Silent	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr1:170964598C>T	ENST00000367758.3	+	13	1362	c.1263C>T	c.(1261-1263)ccC>ccT	p.P421P	MROH9_ENST00000367759.4_Silent_p.P421P	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	421																	AGTATTTCCCCCAGCTCTTGA	0.473																																						uc010plz.2																			0		p.P421S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45						c.(1261-1263)ccC>ccT		Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.							103.0	100.0	101.0					1																	170964598		1902	4114	6016	SO:0001819	synonymous_variant	80133						binding	g.chr1:170964598C>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1263C>T	1.37:g.170964598C>T						C1orf129_uc001ghg.3_Silent_p.P421P|C1orf129_uc009wvy.3_Silent_p.P228P	p.P421P	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN			12	1417	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		421					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	ENST00000367758.3	37	c.1263C>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	C	0.351	-0.944773	0.02304	.	.	ENSG00000117501	ENST00000426136	T	0.66638	-0.22	5.37	-5.57	0.02521	.	0.000000	0.64402	D	0.000017	T	0.47078	0.1426	.	.	.	0.51233	D	0.999914	.	.	.	.	.	.	T	0.54609	-0.8268	7	0.87932	D	0	-20.3591	2.4121	0.04427	0.1193:0.1921:0.1957:0.493	.	.	.	.	S	28	ENSP00000403697:P28S	ENSP00000403697:P28S	P	+	1	0	C1orf129	169231222	0.000000	0.05858	0.010000	0.14722	0.030000	0.12068	-4.558000	0.00216	-1.291000	0.02368	-0.148000	0.13756	CCA		0.473	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063	
OR52B4	143496	broad.mit.edu	37	11	4389252	4389252	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:4389252C>T	ENST00000408920.2	-	1	364	c.274G>A	c.(274-276)Ggg>Agg	p.G92R		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	92					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGATGTCCCCAGCACGGAAC	0.527																																						uc010qye.2																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31						c.(274-276)Ggg>Agg		Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.							96.0	101.0	100.0					11																	4389252		2154	4252	6406	SO:0001583	missense	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4389252C>T	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.274G>A	11.37:g.4389252C>T	ENSP00000386160:p.Gly92Arg						p.G92R	NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	365	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	92					A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	c.274G>A	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.990640	0.00439	.	.	ENSG00000221996	ENST00000408920	T	0.35973	1.28	5.28	-0.0518	0.13825	GPCR, rhodopsin-like superfamily (1);	0.322048	0.27088	N	0.020999	T	0.11495	0.0280	N	0.03903	-0.33	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.36089	-0.9762	10	0.02654	T	1	.	7.8934	0.29691	0.0:0.3858:0.0:0.6142	.	92	Q8NGK2	O52B4_HUMAN	R	92	ENSP00000386160:G92R	ENSP00000386160:G92R	G	-	1	0	OR52B4	4345828	0.000000	0.05858	0.087000	0.20705	0.169000	0.22640	-0.095000	0.11077	0.107000	0.17824	0.650000	0.86243	GGG		0.527	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161	
ANO5	203859	broad.mit.edu	37	11	22296134	22296134	+	Missense_Mutation	SNP	C	C	T	rs373471188		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:22296134C>T	ENST00000324559.8	+	20	2572	c.2255C>T	c.(2254-2256)aCg>aTg	p.T752M	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	752					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTGCATTTACGTCAGACATC	0.363																																						uc001mqi.2																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2254-2256)aCg>aTg		Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.		C	MET/THR,MET/THR	0,4406		0,0,2203	114.0	103.0	107.0		2252,2255	5.2	0.9	11		107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ANO5	NM_001142649.1,NM_213599.2	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	751/913,752/914	22296134	1,13005	2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22296134C>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2255C>T	11.37:g.22296134C>T	ENSP00000315371:p.Thr752Met					ANO5_uc001mqj.2_Missense_Mutation_p.T751M	p.T752M	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			19	2572	+			752						Missense_Mutation	SNP	ENST00000324559.8	37	c.2255C>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005696	0.74932	0.0	1.16E-4	ENSG00000171714	ENST00000324559	T	0.66280	-0.2	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.86024	0.5834	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90071	0.4163	10	0.87932	D	0	.	19.2413	0.93886	0.0:1.0:0.0:0.0	.	752	Q75V66	ANO5_HUMAN	M	752	ENSP00000315371:T752M	ENSP00000315371:T752M	T	+	2	0	ANO5	22252710	1.000000	0.71417	0.914000	0.36105	0.509000	0.34042	5.986000	0.70563	2.614000	0.88457	0.555000	0.69702	ACG		0.363	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	
OR8K3	219473	broad.mit.edu	37	11	56085826	56085826	+	Missense_Mutation	SNP	C	C	T	rs149952066	byFrequency	TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:56085826C>T	ENST00000312711.1	+	1	44	c.44C>T	c.(43-45)aCg>aTg	p.T15M		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTCATTCTTACGGGAATCACA	0.423																																						uc010rjf.2																			0				central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(43-45)aCg>aTg		Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.		C	MET/THR	0,4402		0,0,2201	150.0	136.0	140.0		44	-0.3	0.2	11	dbSNP_134	140	2,8588	2.2+/-6.3	0,2,4293	no	missense	OR8K3	NM_001005202.1	81	0,2,6494	TT,TC,CC		0.0233,0.0,0.0154	benign	15/313	56085826	2,12990	2201	4295	6496	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56085826C>T	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.44C>T	11.37:g.56085826C>T	ENSP00000323555:p.Thr15Met						p.T15M	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			0	44	+	Esophageal squamous(21;0.00448)		15					Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.44C>T	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.631331	0.00115	0.0	2.33E-4	ENSG00000181689	ENST00000312711	T	0.00421	7.46	4.84	-0.285	0.12866	.	1.071090	0.07145	N	0.848012	T	0.00178	0.0005	N	0.03115	-0.41	0.09310	N	0.999997	B	0.09022	0.002	B	0.06405	0.002	T	0.10245	-1.0638	10	0.11485	T	0.65	.	8.0648	0.30654	0.0:0.2598:0.0:0.7402	.	15	Q8NH51	OR8K3_HUMAN	M	15	ENSP00000323555:T15M	ENSP00000323555:T15M	T	+	2	0	OR8K3	55842402	0.039000	0.19947	0.154000	0.22540	0.012000	0.07955	0.379000	0.20585	0.062000	0.16340	-0.501000	0.04562	ACG		0.423	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202	
MS4A12	54860	broad.mit.edu	37	11	60264794	60264794	+	Start_Codon_SNP	SNP	G	G	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:60264794G>C	ENST00000016913.4	+	2	60	c.3G>C	c.(1-3)atG>atC	p.M1I	MS4A12_ENST00000537076.1_Start_Codon_SNP_p.M1I|MS4A12_ENST00000525951.1_3'UTR	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	1						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						AGGACATAATGATGTCATCCA	0.383																																						uc001npr.3																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						c.(1-3)atG>atC		Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.							110.0	112.0	111.0					11																	60264794		2203	4300	6503	SO:0001582	initiator_codon_variant	54860					integral to membrane	receptor activity	g.chr11:60264794G>C	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.3G>C	11.37:g.60264794G>C	ENSP00000016913:p.Met1Ile					MS4A12_uc009ynb.3_Missense_Mutation_p.M1I|MS4A12_uc021qkb.1_Missense_Mutation_p.M1I	p.M1I	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN			1	60	+			1					F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	c.3G>C	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	G	6.339	0.430637	0.12045	.	.	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913;ENST00000530007	T;T;T;T	0.51574	1.65;0.7;3.45;0.76	4.57	-1.23	0.09465	.	1611.620000	0.00166	N	0.000000	T	0.34308	0.0893	.	.	.	0.09310	N	1	B;B	0.17268	0.021;0.005	B;B	0.15484	0.013;0.006	T	0.24476	-1.0159	9	0.87932	D	0	-4.8791	2.0303	0.03528	0.1821:0.359:0.3158:0.143	.	1;1	E9PNI3;Q9NXJ0	.;M4A12_HUMAN	I	1	ENSP00000440424:M1I;ENSP00000431959:M1I;ENSP00000016913:M1I;ENSP00000434783:M1I	ENSP00000016913:M1I	M	+	3	0	MS4A12	60021370	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.511000	0.22739	-0.325000	0.08577	-0.448000	0.05591	ATG		0.383	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1		Missense_Mutation
PANX1	24145	broad.mit.edu	37	11	93911644	93911644	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:93911644A>T	ENST00000227638.3	+	3	816	c.431A>T	c.(430-432)gAa>gTa	p.E144V	PANX1_ENST00000436171.2_Missense_Mutation_p.E144V	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	144					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	TTTATCATGGAAGAACTTGAC	0.502																																						uc001per.3																			0				endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(430-432)gAa>gTa		Homo sapiens pannexin 1 (PANX1), mRNA.							111.0	96.0	101.0					11																	93911644		2201	4298	6499	SO:0001583	missense	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93911644A>T	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.431A>T	11.37:g.93911644A>T	ENSP00000227638:p.Glu144Val					PANX1_uc001peq.3_Missense_Mutation_p.E144V	p.E144V	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN			2	816	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	144					O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	ENST00000227638.3	37	c.431A>T	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.733982	0.89482	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.32515	1.45;1.45	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58092	-0.7697	10	0.48119	T	0.1	-27.1042	15.0086	0.71533	1.0:0.0:0.0:0.0	.	144;144	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	V	144	ENSP00000227638:E144V;ENSP00000411461:E144V	ENSP00000227638:E144V	E	+	2	0	PANX1	93551292	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.771000	0.91751	1.945000	0.56424	0.460000	0.39030	GAA		0.502	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368	
UBE4A	9354	broad.mit.edu	37	11	118255613	118255613	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:118255613A>T	ENST00000431736.2	+	15	2458	c.2386A>T	c.(2386-2388)Aac>Tac	p.N796Y	UBE4A_ENST00000545354.1_Missense_Mutation_p.N261Y|UBE4A_ENST00000252108.3_Missense_Mutation_p.N789Y					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCGCTTTCTTAACCTGCTAAT	0.373																																						uc001psw.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(2365-2367)Aac>Tac		Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.							118.0	127.0	124.0					11																	118255613		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118255613A>T	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.2386A>T	11.37:g.118255613A>T	ENSP00000387362:p.Asn796Tyr					UBE4A_uc001psv.3_Missense_Mutation_p.N796Y	p.N789Y	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	14	2500	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	789						Missense_Mutation	SNP	ENST00000431736.2	37	c.2365A>T	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.711958	0.89112	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T;T	0.52754	0.65;0.65;0.65	5.97	5.97	0.96955	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	M	0.79805	2.47	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.76575	0.961;0.988	T	0.75326	-0.3357	10	0.87932	D	0	-16.3377	16.4608	0.84044	1.0:0.0:0.0:0.0	.	789;796	Q14139;Q14139-2	UBE4A_HUMAN;.	Y	789;796;261	ENSP00000252108:N789Y;ENSP00000387362:N796Y;ENSP00000438918:N261Y	ENSP00000252108:N789Y	N	+	1	0	UBE4A	117760823	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.288000	0.76882	0.533000	0.62120	AAC		0.373	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788	
ITPR2	3709	broad.mit.edu	37	12	26868282	26868282	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr12:26868282G>A	ENST00000381340.3	-	8	1221	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	269	Inositol 1,4,5-trisphosphate binding. {ECO:0000250}.|MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GCTGATTGGCGCAAGGTCGTA	0.363																																						uc001rhg.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(805-807)Cgc>Tgc		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.							144.0	143.0	144.0					12																	26868282		1874	4105	5979	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26868282G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.805C>T	12.37:g.26868282G>A	ENSP00000370744:p.Arg269Cys						p.R269C	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			7	1222	-	Colorectal(261;0.0847)		269			Inositol-1,4,5-triphosphate binding (By similarity).|MIR 3.		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.805C>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314935	0.81358	.	.	ENSG00000123104	ENST00000381340	D	0.89485	-2.52	4.75	3.81	0.43845	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.94584	0.8255	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94896	0.8052	10	0.59425	D	0.04	.	14.4067	0.67088	0.0:0.0:0.8522:0.1478	.	269	Q14571	ITPR2_HUMAN	C	269	ENSP00000370744:R269C	ENSP00000370744:R269C	R	-	1	0	ITPR2	26759549	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.232000	0.58645	2.464000	0.83262	0.650000	0.86243	CGC		0.363	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
MTUS2	23281	broad.mit.edu	37	13	29600584	29600584	+	Silent	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr13:29600584G>A	ENST00000431530.3	+	1	1837	c.1779G>A	c.(1777-1779)acG>acA	p.T593T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	583						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.T593T(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGTTGAACACGTCCCCCAAAG	0.552																																						uc001usl.4																			2	Substitution - coding silent(2)	p.T593T(2)	prostate(1)|endometrium(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1777-1779)acG>acA		Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.							69.0	73.0	72.0					13																	29600584		1980	4159	6139	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600584G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1779G>A	13.37:g.29600584G>A							p.T593T	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			0	1837	+			583					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.1779G>A	CCDS45022.1																																																																																				0.552	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
OTX2	5015	broad.mit.edu	37	14	57269020	57269020	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr14:57269020C>A	ENST00000555006.1	-	4	711	c.303G>T	c.(301-303)caG>caT	p.Q101H	OTX2_ENST00000554559.1_3'UTR|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000408990.3_Missense_Mutation_p.Q101H|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000339475.5_Missense_Mutation_p.Q109H			P32243	OTX2_HUMAN	orthodenticle homeobox 2	101	Poly-Gln.				axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GACCTCCATTCTGCTGTTGTT	0.448																																						uc001xcq.3																			0		p.Q109P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(325-327)caG>caT		Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.							107.0	110.0	109.0					14																	57269020		2203	4300	6503	SO:0001583	missense	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57269020C>A	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.303G>T	14.37:g.57269020C>A	ENSP00000452336:p.Gln101His					OTX2_uc001xcp.3_Missense_Mutation_p.Q101H|OTX2_uc021rtm.1_5'UTR|OTX2_uc010aou.3_Missense_Mutation_p.Q101H	p.Q109H	NM_021728	NP_068374	P32243	OTX2_HUMAN			4	601	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		101					B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	c.327G>T	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189483	0.38707	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000555804	D;D;D;D;D	0.92149	-2.8;-2.8;-2.8;-2.85;-2.98	5.78	4.9	0.64082	.	0.000000	0.40554	N	0.001076	D	0.94112	0.8112	M	0.84326	2.69	0.80722	D	1	P;P	0.52577	0.954;0.943	P;P	0.50617	0.646;0.547	D	0.94427	0.7646	10	0.72032	D	0.01	.	13.4468	0.61146	0.0:0.9242:0.0:0.0758	.	109;101	F1T0D1;P32243	.;OTX2_HUMAN	H	109;101;101;109;101	ENSP00000343819:Q109H;ENSP00000386185:Q101H;ENSP00000452336:Q101H;ENSP00000451357:Q109H;ENSP00000451272:Q101H	ENSP00000343819:Q109H	Q	-	3	2	OTX2	56338773	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.708000	0.47152	1.461000	0.47929	0.455000	0.32223	CAG		0.448	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.	
VPS18	57617	broad.mit.edu	37	15	41193044	41193044	+	Silent	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr15:41193044G>A	ENST00000220509.5	+	4	2367	c.2028G>A	c.(2026-2028)ccG>ccA	p.P676P	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	676					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GTGGCCGGCCGGACTCACTAC	0.647																																						uc001zne.3																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2026-2028)ccG>ccA		Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.							78.0	72.0	74.0					15																	41193044		2203	4300	6503	SO:0001819	synonymous_variant	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41193044G>A	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2028G>A	15.37:g.41193044G>A							p.P676P	NM_020857	NP_065908	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	3	2367	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	676					Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	37	c.2028G>A	CCDS10069.1																																																																																				0.647	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2		
SLC27A2	11001	broad.mit.edu	37	15	50475097	50475097	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr15:50475097C>T	ENST00000267842.5	+	1	705	c.473C>T	c.(472-474)tCg>tTg	p.S158L	SLC27A2_ENST00000380902.4_Missense_Mutation_p.S158L	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	158					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTGCTGGTGTCGCCAGGTGAG	0.652																																						uc001zxw.3																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(472-474)tCg>tTg		Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.							69.0	75.0	73.0					15																	50475097		2194	4293	6487	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50475097C>T	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.473C>T	15.37:g.50475097C>T	ENSP00000267842:p.Ser158Leu					SLC27A2_uc010bes.3_Missense_Mutation_p.S158L	p.S158L	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	0	705	+		all_lung(180;0.00177)	158					A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.473C>T	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696014	0.48202	.	.	ENSG00000140284	ENST00000380902;ENST00000267842	T;T	0.50813	0.73;0.73	4.42	4.42	0.53409	AMP-dependent synthetase/ligase (1);	0.438298	0.22041	N	0.065449	T	0.40222	0.1108	L	0.59436	1.845	0.28947	N	0.890631	B;P	0.37276	0.148;0.589	B;B	0.30105	0.111;0.111	T	0.52335	-0.8589	10	0.87932	D	0	.	10.7017	0.45931	0.0:0.8062:0.1938:0.0	.	158;158	Q6PF09;O14975	.;S27A2_HUMAN	L	158	ENSP00000370289:S158L;ENSP00000267842:S158L	ENSP00000267842:S158L	S	+	2	0	SLC27A2	48262389	0.003000	0.15002	0.701000	0.30321	0.868000	0.49771	0.629000	0.24538	2.446000	0.82766	0.561000	0.74099	TCG		0.652	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645	
ITGA11	22801	broad.mit.edu	37	15	68641185	68641185	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr15:68641185delA	ENST00000315757.7	-	10	1200	c.1114delT	c.(1114-1116)tccfs	p.S373fs	ITGA11_ENST00000562826.1_5'Flank|ITGA11_ENST00000423218.2_Frame_Shift_Del_p.S373fs	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	373					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						ACGTGCGAGGAAAAGCCCGTC	0.562																																						uc010bib.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(1114-1116)tccfs		Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	Tirofiban(DB00775)						82.0	92.0	89.0					15																	68641185		2050	4190	6240	SO:0001589	frameshift_variant	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68641185delA	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1114delT	15.37:g.68641185delA	ENSP00000327290:p.Ser373fs					ITGA11_uc002ari.3_Frame_Shift_Del_p.S372fs	p.S372fs	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			9	1201	-			372					J3KQM2|Q8WYI8|Q9UKQ1	Frame_Shift_Del	DEL	ENST00000315757.7	37	c.1114delT	CCDS45291.1																																																																																				0.562	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	
TARSL2	123283	broad.mit.edu	37	15	102242566	102242566	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr15:102242566C>T	ENST00000335968.3	-	9	1313	c.1097G>A	c.(1096-1098)gGc>gAc	p.G366D		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	366					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCGGATTGCCCTCCCAATA	0.353																																						uc002bxm.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1096-1098)gGc>gAc		Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.							132.0	117.0	122.0					15																	102242566		2203	4300	6503	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102242566C>T	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1097G>A	15.37:g.102242566C>T	ENSP00000338093:p.Gly366Asp					TARSL2_uc002bxl.3_5'UTR|TARSL2_uc010usi.2_Non-coding_Transcript	p.G366D	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		8	1152	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		366					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.1097G>A	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174082	0.78452	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.48	4.57	0.56435	Threonyl/alanyl tRNA synthetase, SAD (2);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.049228	0.85682	N	0.000000	D	0.82614	0.5075	H	0.98027	4.13	0.80722	D	1	P	0.43314	0.803	P	0.47827	0.558	D	0.86781	0.1979	9	0.59425	D	0.04	-9.0206	12.098	0.53765	0.0:0.917:0.0:0.083	.	366	A2RTX5	SYTC2_HUMAN	D	366;271;366	.	ENSP00000329291:G271D	G	-	2	0	TARSL2	100060089	1.000000	0.71417	0.909000	0.35828	0.997000	0.91878	4.767000	0.62286	1.323000	0.45263	0.655000	0.94253	GGC		0.353	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334	
MSLNL	401827	broad.mit.edu	37	16	830269	830269	+	Intron	SNP	G	G	A	rs373553451	byFrequency	TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:830269G>A	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Silent_p.S244S			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGAGGCCAGAGGACATGGAGG	0.677													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19192	0.0		0.0	False		,,,				2504	0.0					uc002cjz.1																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(730-732)tcC>tcT		Homo sapiens mesothelin-like (MSLNL), mRNA.		G		11,4013		0,11,2001	27.0	30.0	29.0		732	-0.6	0.0	16		29	0,8346		0,0,4173	no	coding-synonymous	MSLNL	NM_001025190.1		0,11,6174	AA,AG,GG		0.0,0.2734,0.0889		244/1054	830269	11,12359	2012	4173	6185	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830269G>A			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-107C>T	16.37:g.830269G>A							p.S244S	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			2	732	-			0						Silent	SNP	ENST00000442466.1	37	c.732C>T																																																																																					0.677	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190	
SRRM2	23524	broad.mit.edu	37	16	2812977	2812977	+	Silent	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:2812977C>T	ENST00000301740.8	+	11	2997	c.2448C>T	c.(2446-2448)cgC>cgT	p.R816R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	816	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GACGCAGTCGCTCCAGTTCTT	0.498																																						uc002crk.3																			0		p.R816H(1)|p.S815I(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(2446-2448)cgC>cgT		Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.							217.0	219.0	218.0					16																	2812977		2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812977C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2448C>T	16.37:g.2812977C>T						SRRM2_uc002crj.1_Silent_p.R720R|SRRM2_uc002crl.1_Silent_p.R816R|SRRM2_uc010bsu.1_Silent_p.R720R	p.R816R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			10	2997	+			816			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.2448C>T	CCDS32373.1																																																																																				0.498	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
SRRM2	23524	broad.mit.edu	37	16	2813966	2813966	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:2813966C>G	ENST00000301740.8	+	11	3986	c.3437C>G	c.(3436-3438)cCt>cGt	p.P1146R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1146	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCTTCATATCCTACAGTGGAC	0.468																																						uc002crk.3																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(3436-3438)cCt>cGt		Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.							88.0	93.0	91.0					16																	2813966		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2813966C>G	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3437C>G	16.37:g.2813966C>G	ENSP00000301740:p.Pro1146Arg					SRRM2_uc002crj.1_Missense_Mutation_p.P1050R|SRRM2_uc002crl.1_Missense_Mutation_p.P1146R|SRRM2_uc010bsu.1_Missense_Mutation_p.P1050R	p.P1146R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			10	3986	+			1146			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.3437C>G	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	1.041	-0.678934	0.03378	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	D	0.92595	-3.07	5.92	2.97	0.34412	.	0.472392	0.21904	N	0.067410	D	0.86908	0.6046	L	0.53249	1.67	0.09310	N	1	B	0.29085	0.232	B	0.32533	0.147	T	0.70270	-0.4918	10	0.06236	T	0.91	-6.7403	8.1935	0.31383	0.0:0.7624:0.0:0.2376	.	1146	Q9UQ35	SRRM2_HUMAN	R	1146;1146;398	ENSP00000301740:P1146R	ENSP00000301740:P1146R	P	+	2	0	SRRM2	2753967	0.003000	0.15002	0.002000	0.10522	0.039000	0.13416	0.153000	0.16323	0.433000	0.26313	-0.136000	0.14681	CCT		0.468	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
GRIN2A	2903	broad.mit.edu	37	16	9857538	9857538	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:9857538C>T	ENST00000396573.2	-	14	4172	c.3863G>A	c.(3862-3864)cGt>cAt	p.R1288H	GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1288H|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1288H|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000562109.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1288					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGAATGCTGACGGCTAATCCT	0.537																																						uc010uym.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3862-3864)cGt>cAt		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						133.0	111.0	118.0					16																	9857538		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857538C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3863G>A	16.37:g.9857538C>T	ENSP00000379818:p.Arg1288His					GRIN2A_uc002czo.4_Missense_Mutation_p.R1288H|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	p.R1288H	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			13	4173	-			1288					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3863G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332432	0.81801	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.53206	0.63;0.63;0.63	5.81	5.81	0.92471	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73742	-0.3887	9	.	.	.	.	19.0707	0.93134	0.0:1.0:0.0:0.0	.	1288	Q12879	NMDE1_HUMAN	H	1288	ENSP00000379818:R1288H;ENSP00000332549:R1288H;ENSP00000379820:R1288H	.	R	-	2	0	GRIN2A	9765039	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	7.395000	0.79876	2.746000	0.94184	0.655000	0.94253	CGT		0.537	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	byFrequency	TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587													.|||	668	0.133387	0.0386	0.1499	5008	,	,		18807	0.4087		0.0537	False		,,,				2504	0.0481					uc002fqq.3																			3	Substitution - Missense(3)	p.R105H(3)	urinary_tract(1)|prostate(1)|kidney(1)								c.(502-504)acG>acA		Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																																						197331							g.chr16:90161578G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161578G>A						BC139719_uc002fqp.3_Silent_p.T151T	p.T168T							3	504	+									Silent	SNP	ENST00000564451.1	37	c.504G>A																																																																																					0.587	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334	
MYH13	8735	broad.mit.edu	37	17	10233822	10233822	+	Missense_Mutation	SNP	G	G	T	rs201786434		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr17:10233822G>T	ENST00000418404.3	-	20	2480	c.2317C>A	c.(2317-2319)Ctc>Atc	p.L773I	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.L773I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	773	Actin-binding. {ECO:0000250}.|Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGTCCCAGGAGCCCAGCTTTG	0.557																																						uc002gmk.1																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(2317-2319)Ctc>Atc		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.							58.0	60.0	59.0					17																	10233822		2116	4273	6389	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10233822G>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2317C>A	17.37:g.10233822G>T	ENSP00000404570:p.Leu773Ile						p.L773I	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			20	2407	-			773			Actin-binding (By similarity).|Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.2317C>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266049	0.80358	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	T	0.72051	-0.62	3.94	3.94	0.45596	Myosin head, motor domain (1);	.	.	.	.	T	0.67646	0.2915	L	0.58969	1.84	0.40304	D	0.978649	B	0.06786	0.001	B	0.31337	0.128	T	0.65936	-0.6047	9	0.37606	T	0.19	.	10.2502	0.43364	0.0917:0.0:0.9083:0.0	.	773	Q9UKX3	MYH13_HUMAN	I	773;448	ENSP00000252172:L773I	ENSP00000252172:L773I	L	-	1	0	MYH13	10174547	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.622000	0.67750	2.190000	0.69967	0.563000	0.77884	CTC		0.557	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
KRT33A	3883	broad.mit.edu	37	17	39506758	39506758	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr17:39506758T>G	ENST00000007735.3	-	1	306	c.262A>C	c.(262-264)Atc>Ctc	p.I88L		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	88	Coil 1A.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CGCTCCCGGATGAGGTTCTCC	0.612																																						uc002hwk.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(262-264)Atc>Ctc		Homo sapiens keratin 33A (KRT33A), mRNA.							91.0	82.0	85.0					17																	39506758		2203	4300	6503	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39506758T>G	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.262A>C	17.37:g.39506758T>G	ENSP00000007735:p.Ile88Leu						p.I88L	NM_004138	NP_004129	O76009	KT33A_HUMAN			0	299	-		Breast(137;0.000496)	88			Coil 1A.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.262A>C	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.864873	0.91511	.	.	ENSG00000006059	ENST00000007735	D	0.88896	-2.44	5.22	5.22	0.72569	Filament (1);	0.000000	0.64402	D	0.000003	D	0.89760	0.6808	L	0.55213	1.73	0.42978	D	0.994455	B	0.33212	0.402	B	0.44044	0.439	D	0.89697	0.3902	10	0.52906	T	0.07	.	14.7289	0.69365	0.0:0.0:0.0:1.0	.	88	O76009	KT33A_HUMAN	L	88	ENSP00000007735:I88L	ENSP00000007735:I88L	I	-	1	0	KRT33A	36760284	1.000000	0.71417	0.976000	0.42696	0.954000	0.61252	7.821000	0.86641	2.320000	0.78422	0.528000	0.53228	ATC		0.612	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138	
OTOP2	92736	broad.mit.edu	37	17	72923832	72923832	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr17:72923832delC	ENST00000580223.1	+	4	612	c.582delC	c.(580-582)cacfs	p.H194fs	OTOP2_ENST00000331427.4_Frame_Shift_Del_p.H194fs			Q7RTS6	OTOP2_HUMAN	otopetrin 2	194						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AATCTGTGCACCAATCCCACT	0.582																																						uc010wrp.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39						c.(580-582)cacfs		Homo sapiens otopetrin 2 (OTOP2), mRNA.							112.0	81.0	92.0					17																	72923832		2203	4300	6503	SO:0001589	frameshift_variant	92736					integral to membrane		g.chr17:72923832delC	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.582delC	17.37:g.72923832delC	ENSP00000463837:p.His194fs					OTOP2_uc002jmf.1_3'UTR	p.H194fs	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN			4	674	+	all_lung(278;0.172)|Lung NSC(278;0.207)		194						Frame_Shift_Del	DEL	ENST00000580223.1	37	c.582delC	CCDS11708.1																																																																																				0.582	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160	
DSC1	1823	broad.mit.edu	37	18	28723628	28723628	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr18:28723628C>T	ENST00000257198.5	-	8	1327	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	DSC1_ENST00000257197.3_Missense_Mutation_p.E356K|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	356	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACAGAAGTTTCTGTGAAAGAT	0.358																																						uc002kwn.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1066-1068)Gaa>Aaa		Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.							113.0	107.0	109.0					18																	28723628		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28723628C>T	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1066G>A	18.37:g.28723628C>T	ENSP00000257198:p.Glu356Lys					DSC1_uc002kwm.3_Missense_Mutation_p.E356K	p.E356K	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		7	1328	-			356			Cadherin 3.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.1066G>A	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430605	0.25726	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.60548	0.18;0.18	5.21	-0.268	0.12934	Cadherin (3);Cadherin-like (1);	0.447882	0.18565	N	0.137515	T	0.30696	0.0773	N	0.04746	-0.17	0.34548	D	0.710982	B;B	0.10296	0.001;0.003	B;B	0.10450	0.005;0.003	T	0.18116	-1.0347	10	0.31617	T	0.26	.	8.9218	0.35617	0.0:0.2569:0.5754:0.1677	.	356;356	Q08554;Q9HB00	DSC1_HUMAN;.	K	356	ENSP00000257197:E356K;ENSP00000257198:E356K	ENSP00000257197:E356K	E	-	1	0	DSC1	26977626	0.068000	0.21057	0.891000	0.34965	0.929000	0.56500	-0.007000	0.12810	0.243000	0.21327	0.591000	0.81541	GAA		0.358	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421	
TNFSF9	8744	broad.mit.edu	37	19	6535006	6535006	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:6535006G>A	ENST00000245817.3	+	3	732	c.694G>A	c.(694-696)Gcc>Acc	p.A232T		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	232					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TACCCAGGGCGCCACAGTCTT	0.662																																						uc002mfh.2																			0		p.G231G(2)		central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(694-696)Gcc>Acc		Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.							17.0	19.0	18.0					19																	6535006		2203	4292	6495	SO:0001583	missense	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6535006G>A	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.694G>A	19.37:g.6535006G>A	ENSP00000245817:p.Ala232Thr						p.A232T	NM_003811	NP_003802	P41273	TNFL9_HUMAN			2	732	+			232					Q2M3S2	Missense_Mutation	SNP	ENST00000245817.3	37	c.694G>A	CCDS12169.1	.	.	.	.	.	.	.	.	.	.	g	14.81	2.647015	0.47258	.	.	ENSG00000125657	ENST00000245817	D	0.94613	-3.47	4.37	3.33	0.38152	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.308394	0.23035	N	0.052690	D	0.88636	0.6490	L	0.28115	0.83	0.20196	N	0.999927	D	0.63880	0.993	P	0.47827	0.558	T	0.80834	-0.1205	10	0.05833	T	0.94	.	8.2125	0.31492	0.1139:0.0:0.8861:0.0	.	232	P41273	TNFL9_HUMAN	T	232	ENSP00000245817:A232T	ENSP00000245817:A232T	A	+	1	0	TNFSF9	6486006	0.065000	0.20965	0.140000	0.22221	0.026000	0.11368	0.133000	0.15912	0.956000	0.37904	0.537000	0.68136	GCC		0.662	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811	
MUC16	94025	broad.mit.edu	37	19	9049297	9049297	+	Silent	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:9049297C>T	ENST00000397910.4	-	5	32537	c.32334G>A	c.(32332-32334)tcG>tcA	p.S10778S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10780	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGGAATGGCCGAACTTGTCT	0.468																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32332-32334)tcG>tcA		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							142.0	130.0	134.0					19																	9049297		1975	4168	6143	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049297C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32334G>A	19.37:g.9049297C>T							p.S10778S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			4	32538	-			10780			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.32334G>A	CCDS54212.1																																																																																				0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF536	9745	broad.mit.edu	37	19	31039659	31039659	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:31039659G>T	ENST00000355537.3	+	4	3280	c.3133G>T	c.(3133-3135)Gcc>Tcc	p.A1045S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1045					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAAAGACCAAGCCCGGGAGGC	0.537																																						uc002nsu.1																			0		p.Q1044*(1)|p.A1045A(1)|p.A1045V(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(3133-3135)Gcc>Tcc		Homo sapiens zinc finger protein 536 (ZNF536), mRNA.							83.0	76.0	78.0					19																	31039659		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039659G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3133G>T	19.37:g.31039659G>T	ENSP00000347730:p.Ala1045Ser					ZNF536_uc010edd.1_Missense_Mutation_p.A1045S	p.A1045S	NM_014717	NP_055532	O15090	ZN536_HUMAN			3	3271	+	Esophageal squamous(110;0.0834)		1045					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.3133G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.702808	0.00719	.	.	ENSG00000198597	ENST00000355537	T	0.07800	3.16	5.74	3.51	0.40186	.	0.511747	0.18855	N	0.129297	T	0.02888	0.0086	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.45381	-0.9265	10	0.07175	T	0.84	-4.8914	5.1523	0.15017	0.1669:0.0:0.5781:0.255	.	1045;1045	A7E228;O15090	.;ZN536_HUMAN	S	1045	ENSP00000347730:A1045S	ENSP00000347730:A1045S	A	+	1	0	ZNF536	35731499	0.998000	0.40836	0.093000	0.20910	0.432000	0.31715	2.978000	0.49305	1.417000	0.47077	0.655000	0.94253	GCC		0.537	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
CD22	933	broad.mit.edu	37	19	35828889	35828889	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:35828889C>T	ENST00000085219.5	+	5	1016	c.950C>T	c.(949-951)cCg>cTg	p.P317L	CD22_ENST00000419549.2_Missense_Mutation_p.P145L|CD22_ENST00000594250.1_Intron|CD22_ENST00000536635.2_Missense_Mutation_p.P317L|CD22_ENST00000270311.6_Missense_Mutation_p.P197L|CD22_ENST00000341773.6_Intron|CD22_ENST00000544992.2_Missense_Mutation_p.P317L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	317	Ig-like C2-type 2.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GACGTGGGCCCGGGAAGGTCG	0.602																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(949-951)cCg>cTg		Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	OspA lipoprotein(DB00045)						92.0	63.0	73.0					19																	35828889		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35828889C>T	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.950C>T	19.37:g.35828889C>T	ENSP00000085219:p.Pro317Leu					CD22_uc010edu.3_Missense_Mutation_p.P317L|CD22_uc010edv.3_Missense_Mutation_p.P317L|CD22_uc002nzb.4_Intron|CD22_uc010xst.2_Missense_Mutation_p.P145L|CD22_uc010edx.3_Non-coding_Transcript	p.P317L	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		4	1034	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		317			Ig-like C2-type 2.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.950C>T	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	C	9.881	1.201656	0.22121	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000544992;ENST00000270311;ENST00000419549	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	4.81	-8.8	0.00817	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.745460	0.01190	N	0.007304	T	0.06234	0.0161	N	0.17764	0.52	0.09310	N	1	B;B;B;B	0.24651	0.003;0.008;0.108;0.021	B;B;B;B	0.18871	0.006;0.004;0.023;0.01	T	0.27468	-1.0073	10	0.39692	T	0.17	.	0.6669	0.00852	0.2759:0.187:0.3094:0.2277	.	145;317;317;317	Q32M46;F5GYU4;F5H7U3;P20273	.;.;.;CD22_HUMAN	L	317;317;317;197;145	ENSP00000085219:P317L;ENSP00000442279:P317L;ENSP00000441237:P317L;ENSP00000270311:P197L;ENSP00000403822:P145L	ENSP00000085219:P317L	P	+	2	0	CD22	40520729	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.268000	0.00533	-0.844000	0.04184	-0.499000	0.04595	CCG		0.602	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771	
SHKBP1	92799	broad.mit.edu	37	19	41096902	41096902	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:41096902A>G	ENST00000291842.5	+	18	1962	c.1913A>G	c.(1912-1914)aAc>aGc	p.N638S	LTBP4_ENST00000204005.9_5'Flank|LTBP4_ENST00000545697.1_5'Flank|SHKBP1_ENST00000600733.1_Missense_Mutation_p.N613S	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	638					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCTCCAGCAACACCTCCTTG	0.662																																						uc002oob.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(1912-1914)aAc>aGc		Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.							35.0	38.0	37.0					19																	41096902		2203	4300	6503	SO:0001583	missense	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41096902A>G	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1913A>G	19.37:g.41096902A>G	ENSP00000291842:p.Asn638Ser					SHKBP1_uc002ooc.3_Missense_Mutation_p.N613S|SHKBP1_uc002ooe.3_Missense_Mutation_p.N475S|SHKBP1_uc010xvm.2_Missense_Mutation_p.N418S|SHKBP1_uc010xvn.2_Missense_Mutation_p.N516S|LTBP4_uc002oog.1_5'Flank	p.N638S	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		17	1962	+			638					Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	c.1913A>G	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	A	6.818	0.520105	0.13005	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.40756	1.02	5.05	-0.154	0.13399	.	2.226600	0.01882	N	0.037939	T	0.30135	0.0755	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.08493	-1.0719	10	0.23302	T	0.38	-8.4997	5.0987	0.14747	0.4957:0.0:0.3582:0.1461	.	516;418;475;638;638	B4DLI0;B4DUW2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;SHKB1_HUMAN	S	638;418	ENSP00000291842:N638S	ENSP00000291842:N638S	N	+	2	0	SHKBP1	45788742	0.000000	0.05858	0.881000	0.34555	0.906000	0.53458	-0.513000	0.06305	-0.012000	0.14223	0.459000	0.35465	AAC		0.662	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392	
MFSD9	84804	broad.mit.edu	37	2	103335367	103335367	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr2:103335367G>A	ENST00000258436.5	-	6	980	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	313					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						ACCCCAAAGCGCTCCTCCAGG	0.587																																						uc002tcb.2																			0				breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						c.(937-939)Cgc>Tgc		Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.							49.0	46.0	47.0					2																	103335367		2203	4300	6503	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103335367G>A		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.937C>T	2.37:g.103335367G>A	ENSP00000258436:p.Arg313Cys					MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.R252C	p.R313C	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN			5	1005	-			313					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.937C>T	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662550	0.67700	.	.	ENSG00000135953	ENST00000258436	T	0.58797	0.31	5.0	5.0	0.66597	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.060830	0.64402	D	0.000006	T	0.58090	0.2098	M	0.63428	1.95	0.80722	D	1	P	0.48640	0.913	P	0.44647	0.456	T	0.64601	-0.6369	10	0.87932	D	0	-7.4553	12.0107	0.53286	0.0:0.0:0.7075:0.2925	.	313	Q8NBP5	MFSD9_HUMAN	C	313	ENSP00000258436:R313C	ENSP00000258436:R313C	R	-	1	0	MFSD9	102701799	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	5.402000	0.66332	2.488000	0.83962	0.644000	0.83932	CGC		0.587	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718	
SLC5A7	60482	broad.mit.edu	37	2	108626710	108626710	+	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr2:108626710delG	ENST00000264047.2	+	9	1412	c.1136delG	c.(1135-1137)tggfs	p.W379fs	SLC5A7_ENST00000540517.1_Frame_Shift_Del_p.W274fs|SLC5A7_ENST00000409059.1_Frame_Shift_Del_p.W379fs	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	379					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GAAATCGTTTGGGTTATGCGA	0.443																																						uc002tdv.3																			0		p.V378I(2)|p.V378V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1135-1137)tggfs		Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	Choline(DB00122)						156.0	126.0	136.0					2																	108626710		2203	4300	6503	SO:0001589	frameshift_variant	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626710delG	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1136delG	2.37:g.108626710delG	ENSP00000264047:p.Trp379fs					SLC5A7_uc010ywm.2_Frame_Shift_Del_p.W132fs|SLC5A7_uc010fjj.3_Frame_Shift_Del_p.W379fs|SLC5A7_uc010ywn.2_Frame_Shift_Del_p.W266fs	p.W379fs	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			8	1412	+			379					Q53TF2	Frame_Shift_Del	DEL	ENST00000264047.2	37	c.1136delG	CCDS2074.1																																																																																				0.443	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1		
WNT10A	80326	broad.mit.edu	37	2	219746954	219746954	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr2:219746954T>C	ENST00000258411.3	+	2	818	c.185T>C	c.(184-186)cTa>cCa	p.L62P		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	62					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGTGTGCCTAACATTGCCA	0.612																																						uc002vjd.1																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12						c.(184-186)cTa>cCa		Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.							85.0	80.0	82.0					2																	219746954		2203	4300	6503	SO:0001583	missense	80326				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219746954T>C	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"""Wingless-type MMTV integration sites"""	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.185T>C	2.37:g.219746954T>C	ENSP00000258411:p.Leu62Pro						p.L62P	NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	648	+		Renal(207;0.0474)	62					Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	37	c.185T>C	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.593884	0.66219	.	.	ENSG00000135925	ENST00000258411	T	0.75589	-0.95	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000010	T	0.80665	0.4666	L	0.61036	1.89	0.80722	D	1	D	0.54397	0.966	P	0.58780	0.845	T	0.79315	-0.1854	10	0.32370	T	0.25	.	13.5718	0.61851	0.0:0.0:0.0:1.0	.	62	Q9GZT5	WN10A_HUMAN	P	62	ENSP00000258411:L62P	ENSP00000258411:L62P	L	+	2	0	WNT10A	219455198	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	7.630000	0.83225	1.809000	0.52856	0.379000	0.24179	CTA		0.612	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216	
AGAP1	116987	broad.mit.edu	37	2	236659063	236659063	+	Silent	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr2:236659063C>T	ENST00000304032.8	+	6	1184	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	AGAP1_ENST00000428334.2_Silent_p.L41L|AGAP1_ENST00000409538.1_Silent_p.L467L|AGAP1_ENST00000336665.5_Silent_p.L202L|AGAP1_ENST00000409457.1_Silent_p.L202L	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	202	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTCCAACGACCTGAAACGGTG	0.527																																						uc002vvs.3																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(604-606)Ctg>Ttg		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.							268.0	214.0	233.0					2																	236659063		2203	4300	6503	SO:0001819	synonymous_variant	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236659063C>T	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.604C>T	2.37:g.236659063C>T						AGAP1_uc002vvt.3_Silent_p.L202L|AGAP1_uc021vyp.1_Silent_p.L202L	p.L202L	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN			5	1202	+			202			Small GTPase-like.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	ENST00000304032.8	37	c.604C>T	CCDS33408.1																																																																																				0.527	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914	
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	43								p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353																																						uc010ztl.1																			2	Substitution - Missense(2)	p.K43N(2)|p.V12V(1)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(37-39)aaA>aaT		Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.																																				SO:0001583	missense	284802							g.chr20:29625885A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.129A>T	20.37:g.29625885A>T	ENSP00000278882:p.Lys43Asn					FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron	p.K13N							1	71	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.39A>T		.	.	.	.	.	.	.	.	.	.	a	10.23	1.292024	0.23564	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62364	0.03	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	.	.	.	0.48762	D	0.999701	D	0.71674	0.998	D	0.79784	0.993	T	0.74598	-0.3612	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	48	F5H5R5	.	N	43;48;43	ENSP00000408863:K48N	ENSP00000278882:K43N	K	+	3	2	FRG1B	28239546	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	0.595000	0.24029	1.028000	0.39785	0.155000	0.16302	AAA		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
PLCG1	5335	broad.mit.edu	37	20	39794468	39794468	+	Splice_Site	SNP	T	T	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr20:39794468T>C	ENST00000373271.1	+	16	2204		c.e16+2		PLCG1_ENST00000244007.3_Splice_Site|PLCG1_ENST00000373272.2_Splice_Site	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1						activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CTCTTTCTGGTAACACTTCCC	0.522																																						uc002xjp.1																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.e16+2		Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.							55.0	49.0	51.0					20																	39794468		2203	4300	6503	SO:0001630	splice_region_variant	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39794468T>C	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1799+2T>C	20.37:g.39794468T>C						PLCG1_uc002xjo.1_Splice_Site_p.W600_splice|PLCG1_uc010zwe.1_Splice_Site_p.W226_splice|PLCG1_uc010ggf.3_5'Flank	p.W600_splice	NM_182811	NP_877963	P19174	PLCG1_HUMAN			16	1920	+		Myeloproliferative disorder(115;0.00878)	600			SH2 1.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Splice_Site	SNP	ENST00000373271.1	37	c.1799_splice	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.362418	0.61403	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	.	.	.	4.95	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6767	0.51434	0.0:0.0:0.1486:0.8514	.	.	.	.	.	-1	.	.	.	+	.	.	PLCG1	39227882	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.815000	0.69215	0.911000	0.36747	0.459000	0.35465	.		0.522	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	Intron
TPTE	7179	broad.mit.edu	37	21	10933879	10933879	+	Missense_Mutation	SNP	C	C	T	rs149228869		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr21:10933879C>T	ENST00000361285.4	-	17	1329	c.1000G>A	c.(1000-1002)Gta>Ata	p.V334I	TPTE_ENST00000298232.7_Missense_Mutation_p.V316I|TPTE_ENST00000342420.5_Missense_Mutation_p.V296I|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	334	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGAATCGCTACGATGTTTTCA	0.313																																						uc002yip.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1000-1002)Gta>Ata		Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.		C	ILE/VAL,ILE/VAL,ILE/VAL	4,4402		0,4,2199	244.0	243.0	243.0		946,886,1000	0.1	0.0	21	dbSNP_134	243	0,8600		0,0,4300	no	missense,missense,missense	TPTE	NM_199259.2,NM_199260.2,NM_199261.2	29,29,29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign,benign	316/534,296/514,334/552	10933879	4,13002	2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10933879C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1000G>A	21.37:g.10933879C>T	ENSP00000355208:p.Val334Ile					TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.V316I|TPTE_uc002yir.1_Missense_Mutation_p.V296I|TPTE_uc010gkv.1_Missense_Mutation_p.V196I	p.V334I	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	16	1368	-			334			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1000G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.795271	0.00617	9.08E-4	0.0	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.88975	-2.45;-2.45;-2.45	1.97	0.0501	0.14292	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.112978	0.56097	N	0.000029	T	0.69260	0.3091	N	0.05124	-0.11	0.26216	N	0.979237	B;B;B	0.18013	0.02;0.02;0.025	B;B;B	0.20955	0.019;0.009;0.032	T	0.56450	-0.7977	10	0.10902	T	0.67	-10.4341	4.9844	0.14182	0.0:0.5035:0.0:0.4965	.	296;316;334	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	I	316;334;296	ENSP00000298232:V316I;ENSP00000355208:V334I;ENSP00000344441:V296I	ENSP00000298232:V316I	V	-	1	0	TPTE	9955750	0.093000	0.21703	0.006000	0.13384	0.155000	0.21991	0.193000	0.17116	0.000000	0.14550	-1.111000	0.02071	GTA		0.313	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
RRP1B	23076	broad.mit.edu	37	21	45107849	45107849	+	Missense_Mutation	SNP	G	G	A	rs567364998		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr21:45107849G>A	ENST00000340648.4	+	13	1711	c.1594G>A	c.(1594-1596)Gtc>Atc	p.V532I		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	532					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		AGTTGTGCCCGTCAATGGCAG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16497	0.0		0.0	False		,,,				2504	0.001					uc002zdk.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21						c.(1594-1596)Gtc>Atc		Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.							39.0	38.0	38.0					21																	45107849		2197	4295	6492	SO:0001583	missense	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45107849G>A	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.1594G>A	21.37:g.45107849G>A	ENSP00000339145:p.Val532Ile					RRP1B_uc002zdl.3_Missense_Mutation_p.V65I	p.V532I	NM_015056	NP_055871	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	12	1708	+			532					Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	c.1594G>A	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750116	0.30955	.	.	ENSG00000160208	ENST00000340648	T	0.35605	1.3	4.96	2.06	0.26882	.	0.712733	0.12257	N	0.485056	T	0.24890	0.0604	L	0.32530	0.975	0.09310	N	1	B	0.25850	0.136	B	0.16722	0.016	T	0.21245	-1.0251	10	0.87932	D	0	-2.2808	6.3372	0.21302	0.1674:0.1521:0.6805:0.0	.	532	Q14684	RRP1B_HUMAN	I	532	ENSP00000339145:V532I	ENSP00000339145:V532I	V	+	1	0	RRP1B	43932277	0.002000	0.14202	0.001000	0.08648	0.006000	0.05464	0.157000	0.16402	0.576000	0.29452	0.561000	0.74099	GTC		0.647	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056	
RGL4	266747	broad.mit.edu	37	22	24034585	24034585	+	Silent	SNP	G	G	A	rs141395325	byFrequency	TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr22:24034585G>A	ENST00000290691.5	+	2	1413	c.243G>A	c.(241-243)ccG>ccA	p.P81P	KB-1572G7.2_ENST00000421064.1_RNA|AP000347.2_ENST00000417194.1_RNA|GUSBP11_ENST00000455485.1_RNA|RGL4_ENST00000401461.1_5'UTR	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	81					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						ATCAGCCCCCGCAACGGTCAT	0.552																																						uc002zxo.3																			0		p.P81Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						c.(241-243)ccG>ccA		Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.		G		0,4406		0,0,2203	176.0	173.0	174.0		243	-3.8	0.0	22	dbSNP_134	174	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	RGL4	NM_153615.1		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		81/474	24034585	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24034585G>A		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.243G>A	22.37:g.24034585G>A						GUSBP11_uc002zxh.4_Non-coding_Transcript|GUSBP11_uc002zxi.4_Non-coding_Transcript|GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Silent_p.P81P|RGL4_uc002zxp.1_5'UTR|RGL4_uc002zxq.3_5'UTR	p.P81P			Q8IZJ4	RGDSR_HUMAN			1	1500	+			81					Q495L8	Silent	SNP	ENST00000290691.5	37	c.243G>A	CCDS13811.1																																																																																				0.552	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615	
MYO18B	84700	broad.mit.edu	37	22	26423542	26423542	+	Silent	SNP	G	G	A	rs368810371		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr22:26423542G>A	ENST00000407587.2	+	43	7774	c.7605G>A	c.(7603-7605)gcG>gcA	p.A2535A	MYO18B_ENST00000536101.1_Silent_p.A2534A|MYO18B_ENST00000335473.7_Silent_p.A2534A			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2534						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CACGACTTGCGGGTGACGGTG	0.572																																						uc003abz.1																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(7600-7602)gcG>gcA		Homo sapiens myosin XVIIIB (MYO18B), mRNA.							43.0	46.0	45.0					22																	26423542		2010	4158	6168	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423542G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7605G>A	22.37:g.26423542G>A						MYO18B_uc003aca.1_Silent_p.A2415A|MYO18B_uc010guy.1_Silent_p.A2416A|MYO18B_uc010guz.1_Silent_p.A2414A|MYO18B_uc011aka.1_Silent_p.A1688A|MYO18B_uc011akb.1_Silent_p.A2047A|MYO18B_uc010gva.1_Silent_p.A517A|MYO18B_uc010gvb.1_Non-coding_Transcript	p.A2534A	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			42	7852	+			2534					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.7602G>A		.	.	.	.	.	.	.	.	.	.	G	0.528	-0.859077	0.02610	.	.	ENSG00000133454	ENST00000543971	.	.	.	5.17	-6.08	0.02151	.	.	.	.	.	T	0.16342	0.0393	.	.	.	0.22330	N	0.999196	.	.	.	.	.	.	T	0.26744	-1.0094	4	.	.	.	.	1.8004	0.03070	0.3731:0.0979:0.3324:0.1966	.	.	.	.	Q	484	.	.	R	+	2	0	MYO18B	24753542	0.093000	0.21703	0.001000	0.08648	0.001000	0.01503	-0.398000	0.07259	-0.892000	0.03935	-1.618000	0.00794	CGG		0.572	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
FGD5	152273	broad.mit.edu	37	3	14862054	14862054	+	Silent	SNP	T	T	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr3:14862054T>C	ENST00000285046.5	+	1	1586	c.1476T>C	c.(1474-1476)taT>taC	p.Y492Y	FGD5_ENST00000543601.1_Silent_p.Y251Y	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	492					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGGCCGGCTATGTCCCAGAAA	0.612																																						uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1474-1476)taT>taC		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							38.0	42.0	41.0					3																	14862054		1942	4118	6060	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862054T>C	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1476T>C	3.37:g.14862054T>C						FGD5_uc011avk.2_Silent_p.Y492Y	p.Y492Y	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			0	1586	+			492					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.1476T>C	CCDS46767.1																																																																																				0.612	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
EFHB	151651	broad.mit.edu	37	3	19974766	19974766	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr3:19974766T>A	ENST00000295824.9	-	1	906	c.745A>T	c.(745-747)Ata>Tta	p.I249L	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.I119L	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	249							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CCAGAGTATATGGGTCTGATG	0.443																																						uc003cbl.4																			0				breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						c.(745-747)Ata>Tta		Homo sapiens EF-hand domain family, member B (EFHB), mRNA.							71.0	68.0	69.0					3																	19974766		2203	4300	6503	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19974766T>A	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.745A>T	3.37:g.19974766T>A	ENSP00000295824:p.Ile249Leu					EFHB_uc003cbm.3_Missense_Mutation_p.I119L	p.I249L	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN			0	941	-			249					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.745A>T	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	T	14.89	2.671769	0.47781	.	.	ENSG00000163576	ENST00000295824;ENST00000344838;ENST00000389256;ENST00000440022	T;T;T;T	0.54071	1.43;1.61;1.71;0.59	5.0	2.64	0.31445	.	0.171885	0.40554	N	0.001062	T	0.41719	0.1171	L	0.57536	1.79	0.26003	N	0.9821	B;B	0.29988	0.194;0.264	B;B	0.23419	0.046;0.03	T	0.25606	-1.0127	9	.	.	.	-18.3338	6.5392	0.22370	0.0:0.1901:0.0:0.8099	.	119;249	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	L	249;119;249;7	ENSP00000295824:I249L;ENSP00000342263:I119L;ENSP00000373908:I249L;ENSP00000396778:I7L	.	I	-	1	0	EFHB	19949770	0.995000	0.38212	1.000000	0.80357	0.853000	0.48598	0.718000	0.25866	0.485000	0.27652	-0.250000	0.11733	ATA		0.443	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715	
BOC	91653	broad.mit.edu	37	3	112997000	112997000	+	Missense_Mutation	SNP	G	G	A	rs149038528		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr3:112997000G>A	ENST00000495514.1	+	10	2302	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	BOC_ENST00000355385.3_Missense_Mutation_p.R533H|BOC_ENST00000273395.4_Missense_Mutation_p.R534H|BOC_ENST00000497495.1_3'UTR			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	533	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AACCAGCACCGCCTGACCCTC	0.567																																						uc003dzx.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1597-1599)cGc>cAc		Homo sapiens Boc homolog (mouse) (BOC), mRNA.		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	167.0	158.0	161.0		1598	2.0	1.0	3	dbSNP_134	161	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BOC	NM_033254.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	533/1115	112997000	2,13004	2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112997000G>A	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1598G>A	3.37:g.112997000G>A	ENSP00000418663:p.Arg533His					BOC_uc003dzy.3_Missense_Mutation_p.R533H|BOC_uc003dzz.3_Missense_Mutation_p.R534H|BOC_uc003eab.3_Missense_Mutation_p.R234H|BOC_uc003eac.3_5'Flank	p.R533H	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		9	2219	+			533			Fibronectin type-III 1.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.1598G>A	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729806	0.30684	2.27E-4	1.16E-4	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.58506	0.33;0.33;0.33	5.8	2.01	0.26516	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.372113	0.30556	N	0.009378	T	0.44095	0.1277	L	0.34521	1.04	0.35619	D	0.809276	B;B	0.10296	0.003;0.003	B;B	0.10450	0.003;0.005	T	0.46205	-0.9208	10	0.46703	T	0.11	.	10.7438	0.46168	0.3145:0.0:0.6855:0.0	.	534;533	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	H	533;534;533	ENSP00000418663:R533H;ENSP00000273395:R534H;ENSP00000347546:R533H	ENSP00000273395:R534H	R	+	2	0	BOC	114479690	0.997000	0.39634	1.000000	0.80357	0.749000	0.42624	0.556000	0.23438	0.368000	0.24481	-0.983000	0.02560	CGC		0.567	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254	
KDR	3791	broad.mit.edu	37	4	55956221	55956221	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr4:55956221G>A	ENST00000263923.4	-	23	3389	c.3094C>T	c.(3094-3096)Cga>Tga	p.R1032*	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1032	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|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 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 focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|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)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R1032*(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGGATATTTCGTGCCGCCAGG	0.448			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.3				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		1	Substitution - Nonsense(1)	p.R1032Q(2)|p.R1032*(2)	prostate(1)	NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3094-3096)Cga>Tga		Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						89.0	86.0	87.0					4																	55956221		2203	4300	6503	SO:0001587	stop_gained	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55956221G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3094C>T	4.37:g.55956221G>A	ENSP00000263923:p.Arg1032*	TSP Lung(20;0.16)				KDR_uc003hat.1_Nonsense_Mutation_p.R1032*	p.R1032*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		22	3396	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1032			Protein kinase.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Nonsense_Mutation	SNP	ENST00000263923.4	37	c.3094C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	43	10.428062	0.99403	.	.	ENSG00000128052	ENST00000263923	.	.	.	5.32	4.48	0.54585	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7963	0.78412	0.0:0.0:0.8628:0.1372	.	.	.	.	X	1032	.	ENSP00000263923:R1032X	R	-	1	2	KDR	55650978	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.160000	0.64929	1.364000	0.46038	0.563000	0.77884	CGA		0.448	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
UGT2B27P	54569	broad.mit.edu	37	4	69870669	69870669	+	IGR	SNP	C	C	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr4:69870669C>A								UGT2A3 (53160 upstream) : UGT2B7 (46524 downstream)																							GCCACACAGGCCAGCAGGAAC	0.448																																						uc011cao.1																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(1360-1362)Gcc>Tcc		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.							194.0	143.0	159.0					4																	69870669		692	1591	2283	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69870669C>A																													4.37:g.69870669C>A						UGT2B10_uc011can.1_Missense_Mutation_p.A370S	p.A454S			P36537	UDB10_HUMAN			7	1486	-			498						Missense_Mutation	SNP		37	c.1360G>T																																																																																				0	0.448								
PROL1	58503	broad.mit.edu	37	4	71275177	71275177	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr4:71275177G>T	ENST00000399575.2	+	3	306	c.132G>T	c.(130-132)tgG>tgT	p.W44C	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	44	Pro-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GGCCAAGATGGGTTCCACCAA	0.502																																						uc003hfi.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15						c.(130-132)tgG>tgT		Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.							141.0	141.0	141.0					4																	71275177		1959	4156	6115	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275177G>T	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"""proline rich 1"""			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.132G>T	4.37:g.71275177G>T	ENSP00000382485:p.Trp44Cys						p.W44C	NM_021225	NP_067048	Q99935	PROL1_HUMAN			2	306	+		all_hematologic(202;0.196)	44			Pro-rich.		A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.132G>T	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	G	4.445	0.082359	0.08533	.	.	ENSG00000171199	ENST00000399575	T	0.30182	1.54	2.19	0.389	0.16269	.	.	.	.	.	T	0.35537	0.0935	L	0.36672	1.1	0.09310	N	1	D	0.65815	0.995	P	0.61940	0.896	T	0.15867	-1.0422	9	0.87932	D	0	.	4.3015	0.10927	0.3644:0.0:0.6356:0.0	.	44	Q99935	PROL1_HUMAN	C	44	ENSP00000382485:W44C	ENSP00000382485:W44C	W	+	3	0	PROL1	71309766	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.355000	0.20163	0.066000	0.16515	0.491000	0.48974	TGG		0.502	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225	
HSD17B13	345275	broad.mit.edu	37	4	88239495	88239495	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr4:88239495G>A	ENST00000328546.4	-	2	368	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B13_ENST00000302219.6_Intron	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	102						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTTAGAGAGCGATAGATCTCT	0.468																																						uc003hqo.2																			0				endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(304-306)Cgc>Tgc		Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA.							133.0	120.0	124.0					4																	88239495		2203	4300	6503	SO:0001583	missense	345275					extracellular region	binding|oxidoreductase activity	g.chr4:88239495G>A		CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18685	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 3"""	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.304C>T	4.37:g.88239495G>A	ENSP00000333300:p.Arg102Cys					HSD17B13_uc010ikk.2_Intron	p.R102C	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000308)	1	367	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	102					A8K9R9|Q2M1L5|Q86W22|Q86W23	Missense_Mutation	SNP	ENST00000328546.4	37	c.304C>T	CCDS3618.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648093	0.29336	.	.	ENSG00000170509	ENST00000328546	D	0.88509	-2.39	4.94	0.998	0.19857	NAD(P)-binding domain (1);	0.802457	0.11402	N	0.567668	D	0.92185	0.7522	M	0.80982	2.52	0.09310	N	1	D	0.55385	0.971	P	0.58970	0.849	T	0.82812	-0.0272	10	0.66056	D	0.02	.	7.5202	0.27624	0.0:0.0721:0.2722:0.6557	.	102	Q7Z5P4	DHB13_HUMAN	C	102	ENSP00000333300:R102C	ENSP00000333300:R102C	R	-	1	0	HSD17B13	88458519	0.047000	0.20315	0.016000	0.15963	0.060000	0.15804	1.369000	0.34227	0.038000	0.15604	-0.362000	0.07510	CGC		0.468	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253052.1	NM_178135	
NAIP	4671	broad.mit.edu	37	5	70307168	70307168	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr5:70307168C>A	ENST00000517649.1	-	5	892	c.602G>T	c.(601-603)gGt>gTt	p.G201V	NAIP_ENST00000194097.4_Missense_Mutation_p.G201V|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.G201V	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	201					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TAAACATCCACCACAGGAAAA	0.403																																						uc003kar.1																			0				central_nervous_system(1)	1						c.(601-603)gGt>gTt		Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.							135.0	117.0	123.0					5																	70307168		2202	4296	6498	SO:0001583	missense	4671				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	g.chr5:70307168C>A	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"""Baculoviral IAP repeat containing"", ""Nucleotide-binding domain and leucine rich repeat containing"""	7634	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1"", ""NLR family, BIR domain containing 1"""	600355	"""baculoviral IAP repeat-containing 1"""	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.602G>T	5.37:g.70307168C>A	ENSP00000428657:p.Gly201Val					NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.G201V|NAIP_uc003kas.1_Intron	p.G201V	NM_004536	NP_004527	Q13075	BIRC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	4	1320	-		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	201					B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	ENST00000517649.1	37	c.602G>T	CCDS4009.1	.	.	.	.	.	.	.	.	.	.	c	12.68	2.012011	0.35511	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.04809	3.55;3.55;3.55	2.99	2.11	0.27256	Baculoviral inhibition of apoptosis protein repeat (5);	.	.	.	.	T	0.21801	0.0525	M	0.92026	3.265	0.45403	D	0.998387	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.953	T	0.00636	-1.1633	9	0.72032	D	0.01	.	5.4063	0.16323	0.1977:0.6881:0.0:0.1143	.	201;201	E7EQW0;Q13075	.;BIRC1_HUMAN	V	201	ENSP00000428657:G201V;ENSP00000443944:G201V;ENSP00000429545:G201V	ENSP00000443944:G201V	G	-	2	0	NAIP	70342924	0.258000	0.24033	0.810000	0.32431	0.637000	0.38172	-0.086000	0.11233	0.830000	0.34757	0.404000	0.27445	GGT		0.403	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536	
PTCD2	79810	broad.mit.edu	37	5	71616252	71616252	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr5:71616252C>G	ENST00000380639.5	+	1	59	c.43C>G	c.(43-45)Cga>Gga	p.R15G	PTCD2_ENST00000543322.1_Missense_Mutation_p.R15G|PTCD2_ENST00000503868.1_Missense_Mutation_p.R15G|MRPS27_ENST00000522095.1_5'Flank|MRPS27_ENST00000515404.1_5'Flank|MRPS27_ENST00000513900.1_5'Flank|MRPS27_ENST00000261413.5_5'Flank|PTCD2_ENST00000536805.1_5'UTR|MRPS27_ENST00000457646.4_5'Flank	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	15					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GCCCTCGAATCGAGTTCTCCT	0.627																																						uc003kcb.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11						c.(43-45)Cga>Gga		Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.							49.0	56.0	54.0					5																	71616252		2146	4269	6415	SO:0001583	missense	79810							g.chr5:71616252C>G	BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.43C>G	5.37:g.71616252C>G	ENSP00000370013:p.Arg15Gly					MRPS27_uc003kca.4_5'Flank|MRPS27_uc003kbz.4_5'Flank|MRPS27_uc011cse.2_5'Flank|MRPS27_uc010iza.3_5'Flank|PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_5'UTR|PTCD2_uc011csh.2_Missense_Mutation_p.R15G|PTCD2_uc003kcd.3_Non-coding_Transcript	p.R15G	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	0	53	+		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	15					B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Missense_Mutation	SNP	ENST00000380639.5	37	c.43C>G	CCDS4014.2	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576373	0.28092	.	.	ENSG00000049883	ENST00000380639;ENST00000543322;ENST00000503868	.	.	.	5.4	-2.85	0.05734	.	0.715638	0.13113	N	0.412834	T	0.22360	0.0539	N	0.12182	0.205	0.20403	N	0.99991	B;B	0.10296	0.003;0.002	B;B	0.12837	0.008;0.002	T	0.21655	-1.0239	9	0.72032	D	0.01	.	9.6949	0.40152	0.4439:0.2299:0.3262:0.0	.	15;15	E9PFV7;Q8WV60	.;PTCD2_HUMAN	G	15	.	ENSP00000308948:R15G	R	+	1	2	PTCD2	71652008	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.600000	0.05693	-0.384000	0.07845	-0.264000	0.10439	CGA		0.627	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754	
DDX41	51428	broad.mit.edu	37	5	176942773	176942773	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr5:176942773G>A	ENST00000507955.1	-	6	1007	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	DDX41_ENST00000506965.1_Intron	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	162					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)			ttccgcacgcgctcatgtcgc	0.552																																						uc003mho.3																			0											c.(484-486)Cgc>Tgc		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.							131.0	126.0	128.0					5																	176942773		2203	4300	6503	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.chr5:176942773G>A	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.484C>T	5.37:g.176942773G>A	ENSP00000422753:p.Arg162Cys					DDX41_uc003mhn.3_Missense_Mutation_p.R31C|DDX41_uc003mhp.3_Missense_Mutation_p.R31C|DDX41_uc003mhq.1_5'UTR	p.R162C	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		5	505	-	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)	162					B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.484C>T	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521438	0.85600	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.29397	1.57;1.58	4.67	3.78	0.43462	.	0.060126	0.64402	D	0.000002	T	0.45074	0.1324	M	0.80183	2.485	0.80722	D	1	D	0.69078	0.997	P	0.51657	0.676	T	0.51482	-0.8700	10	0.62326	D	0.03	-13.4168	10.7436	0.46168	0.0:0.1927:0.8073:0.0	.	162	Q9UJV9	DDX41_HUMAN	C	180;162	ENSP00000330349:R180C;ENSP00000422753:R162C	ENSP00000330349:R180C	R	-	1	0	DDX41	176875379	0.999000	0.42202	0.201000	0.23476	0.995000	0.86356	5.191000	0.65110	1.291000	0.44653	0.655000	0.94253	CGC		0.552	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222	
MYLIP	29116	broad.mit.edu	37	6	16130808	16130808	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:16130808C>G	ENST00000356840.3	+	2	306	c.108C>G	c.(106-108)atC>atG	p.I36M	MYLIP_ENST00000349606.4_Intron	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	36	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GACTGGGAATCATAGAAGTTG	0.468																																						uc003nbq.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(106-108)atC>atG		Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.							126.0	131.0	129.0					6																	16130808		2203	4300	6503	SO:0001583	missense	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16130808C>G	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.108C>G	6.37:g.16130808C>G	ENSP00000349298:p.Ile36Met					MYLIP_uc003nbr.3_Intron	p.I36M	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		1	345	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	36			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	ENST00000356840.3	37	c.108C>G	CCDS4536.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494106	0.64186	.	.	ENSG00000007944	ENST00000356840	D	0.82167	-1.58	5.87	0.9	0.19278	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.86694	0.5994	M	0.81682	2.555	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.86907	0.2058	10	0.87932	D	0	.	10.3203	0.43762	0.0:0.4775:0.0:0.5225	.	36	Q8WY64	MYLIP_HUMAN	M	36	ENSP00000349298:I36M	ENSP00000349298:I36M	I	+	3	3	MYLIP	16238787	0.985000	0.35326	1.000000	0.80357	0.999000	0.98932	0.162000	0.16501	0.301000	0.22738	0.655000	0.94253	ATC		0.468	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262	
MYLIP	29116	broad.mit.edu	37	6	16130886	16130886	+	Silent	SNP	C	C	T	rs543355473		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:16130886C>T	ENST00000356840.3	+	2	384	c.186C>T	c.(184-186)atC>atT	p.I62I	MYLIP_ENST00000349606.4_Intron	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	62	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GAAACCGGATCTCCCAGCAGA	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		19016	0.0		0.0	False		,,,				2504	0.001					uc003nbq.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(184-186)atC>atT		Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.							105.0	106.0	105.0					6																	16130886		2203	4300	6503	SO:0001819	synonymous_variant	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16130886C>T	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.186C>T	6.37:g.16130886C>T						MYLIP_uc003nbr.3_Intron	p.I62I	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		1	423	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	62			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Silent	SNP	ENST00000356840.3	37	c.186C>T	CCDS4536.1																																																																																				0.473	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262	
TNXB	7148	broad.mit.edu	37	6	32012858	32012858	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:32012858T>C	ENST00000375244.3	-	32	11053	c.10852A>G	c.(10852-10854)Acc>Gcc	p.T3618A	TNXB_ENST00000451343.1_Missense_Mutation_p.T47A|TNXB_ENST00000375247.2_Missense_Mutation_p.T3616A			P22105	TENX_HUMAN	tenascin XB	3663	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGTAGGGGGTGCTGGGCTCC	0.642																																						uc003nzl.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(10846-10848)Acc>Gcc		Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.							39.0	33.0	35.0					6																	32012858		1508	2706	4214	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32012858T>C	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10852A>G	6.37:g.32012858T>C	ENSP00000364393:p.Thr3618Ala					TNXB_uc003nzg.1_Missense_Mutation_p.T47A|TNXB_uc003nzh.1_Missense_Mutation_p.T85A	p.T3616A	NM_019105	NP_061978	P22105	TENX_HUMAN			31	11048	-			3663			Fibronectin type-III 28.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.10846A>G		.	.	.	.	.	.	.	.	.	.	t	15.70	2.910067	0.52439	.	.	ENSG00000168477	ENST00000375244;ENST00000451343;ENST00000375247	T;T;T	0.61627	0.09;0.09;0.09	4.85	3.62	0.41486	.	0.191609	0.36628	N	0.002492	T	0.45836	0.1362	M	0.72894	2.215	0.20074	N	0.999934	P	0.49559	0.925	P	0.51415	0.669	T	0.28681	-1.0036	10	0.24483	T	0.36	.	7.0067	0.24840	0.1443:0.0:0.1492:0.7064	.	3616	P22105-3	.	A	3618;47;3616	ENSP00000364393:T3618A;ENSP00000407685:T47A;ENSP00000364396:T3616A	ENSP00000364393:T3618A	T	-	1	0	TNXB	32120836	0.997000	0.39634	1.000000	0.80357	0.958000	0.62258	2.426000	0.44731	2.043000	0.60533	0.529000	0.55759	ACC		0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105	
MLN	4295	broad.mit.edu	37	6	33768891	33768891	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:33768891G>A	ENST00000430124.2	-	2	115	c.50C>T	c.(49-51)gCc>gTc	p.A17V	MLN_ENST00000266003.5_Missense_Mutation_p.A17V|MLN_ENST00000507738.1_Missense_Mutation_p.A17V	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	17					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)	receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						GGCCAGCATGGCAGCTACATG	0.567																																						uc003off.1																			0		p.A16T(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(49-51)gCc>gTc		Homo sapiens motilin (MLN), transcript variant 1, mRNA.							105.0	93.0	97.0					6																	33768891		2203	4300	6503	SO:0001583	missense	4295				cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity	g.chr6:33768891G>A		CCDS4786.1, CCDS47412.1, CCDS54993.1	6p21.31	2014-01-30			ENSG00000096395	ENSG00000096395		"""Endogenous ligands"""	7141	protein-coding gene	gene with protein product	"""prepromotilin"""	158270					Standard	NM_001184698		Approved		uc003off.1	P12872	OTTHUMG00000014536	ENST00000430124.2:c.50C>T	6.37:g.33768891G>A	ENSP00000388825:p.Ala17Val					MLN_uc003ofg.1_Missense_Mutation_p.A17V|MLN_uc011drn.1_Missense_Mutation_p.A17V	p.A17V	NM_002418	NP_002409	P12872	MOTI_HUMAN			1	121	-			17					B7ZLR7|E9PDN2|J3KN51|Q2M1L2|Q5T975|Q6NSY7	Missense_Mutation	SNP	ENST00000430124.2	37	c.50C>T	CCDS4786.1	.	.	.	.	.	.	.	.	.	.	G	8.446	0.851909	0.17034	.	.	ENSG00000096395	ENST00000430124;ENST00000266003;ENST00000507738	T;T;T	0.52526	0.66;0.66;0.67	5.43	2.67	0.31697	.	1.000980	0.08060	N	0.997977	T	0.23094	0.0558	L	0.50919	1.6	0.19775	N	0.999952	B;B;B	0.13145	0.001;0.007;0.007	B;B;B	0.11329	0.002;0.006;0.006	T	0.36866	-0.9730	10	0.49607	T	0.09	-0.0066	8.9396	0.35722	0.2429:0.0:0.7571:0.0	.	17;17;17	E9PDN2;B7ZLR7;P12872	.;.;MOTI_HUMAN	V	17	ENSP00000388825:A17V;ENSP00000266003:A17V;ENSP00000425467:A17V	ENSP00000266003:A17V	A	-	2	0	MLN	33876869	0.997000	0.39634	0.422000	0.26621	0.002000	0.02628	2.916000	0.48813	0.686000	0.31488	-0.136000	0.14681	GCC		0.567	MLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040211.4		
SRPK1	6732	broad.mit.edu	37	6	35838178	35838178	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:35838178C>G	ENST00000373825.2	-	10	1156	c.871G>C	c.(871-873)Gaa>Caa	p.E291Q	SRPK1_ENST00000423325.2_Missense_Mutation_p.E275Q|SRPK1_ENST00000373822.1_Missense_Mutation_p.E184Q					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCTCCATTTCCTCAATTTCC	0.438																																					NSCLC(31;67 978 16289 24856 26454)	uc003olj.3																			0				endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(871-873)Gaa>Caa		Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.							118.0	105.0	109.0					6																	35838178		1824	4070	5894	SO:0001583	missense	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35838178C>G	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.871G>C	6.37:g.35838178C>G	ENSP00000362931:p.Glu291Gln					SRPK1_uc003olh.3_Missense_Mutation_p.E184Q|SRPK1_uc003oli.3_Missense_Mutation_p.E184Q|SRPK1_uc011dtg.2_Missense_Mutation_p.E275Q	p.E291Q	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN			9	995	-			291			Protein kinase.			Missense_Mutation	SNP	ENST00000373825.2	37	c.871G>C	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889265	0.72524	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822;ENST00000510290	T;T;T;T	0.31247	1.51;1.5;1.53;1.58	5.61	5.61	0.85477	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.30166	0.0756	L	0.38953	1.18	0.58432	D	0.999996	P;D	0.60575	0.638;0.988	B;P	0.56216	0.387;0.794	T	0.00770	-1.1573	9	0.25751	T	0.34	-15.8318	19.6236	0.95670	0.0:1.0:0.0:0.0	.	275;291	B4DS61;Q96SB4	.;SRPK1_HUMAN	Q	291;307;275;184;29	ENSP00000362931:E291Q;ENSP00000354674:E307Q;ENSP00000391069:E275Q;ENSP00000362928:E184Q	ENSP00000354674:E307Q	E	-	1	0	SRPK1	35946156	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.414000	0.66405	2.643000	0.89663	0.555000	0.69702	GAA		0.438	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137	
VPS41	27072	broad.mit.edu	37	7	38798055	38798055	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr7:38798055C>A	ENST00000310301.4	-	18	1503	c.1449G>T	c.(1447-1449)tgG>tgT	p.W483C	VPS41_ENST00000395969.2_Missense_Mutation_p.W458C	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	483					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GATCTCCAGGCCATTCTCGGA	0.353																																						uc003tgy.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1447-1449)tgG>tgT		Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.							129.0	125.0	126.0					7																	38798055		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38798055C>A	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1449G>T	7.37:g.38798055C>A	ENSP00000309457:p.Trp483Cys					VPS41_uc003tgz.3_Missense_Mutation_p.W458C|VPS41_uc010kxn.3_Missense_Mutation_p.W394C	p.W483C	NM_014396	NP_055211	P49754	VPS41_HUMAN			17	1475	-			483					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.1449G>T	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928291	0.92389	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.54279	0.6;0.58	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.79890	0.4524	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.82323	-0.0514	10	0.87932	D	0	-11.7456	20.6439	0.99570	0.0:1.0:0.0:0.0	.	483;458;483	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	C	483;458	ENSP00000309457:W483C;ENSP00000379297:W458C	ENSP00000309457:W483C	W	-	3	0	VPS41	38764580	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	TGG		0.353	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3		
EGFR	1956	broad.mit.edu	37	7	55231506	55231506	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr7:55231506G>C	ENST00000275493.2	+	14	1889	c.1712G>C	c.(1711-1713)tGc>tCc	p.C571S	EGFR_ENST00000344576.2_Missense_Mutation_p.C571S|EGFR_ENST00000455089.1_Missense_Mutation_p.C526S|EGFR_ENST00000454757.2_Missense_Mutation_p.C518S|EGFR_ENST00000342916.3_Missense_Mutation_p.C571S|EGFR_ENST00000442591.1_Missense_Mutation_p.C571S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	571					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AACATCACCTGCACAGGACGG	0.557		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1711-1713)tGc>tCc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						133.0	124.0	127.0					7																	55231506		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55231506G>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1712G>C	7.37:g.55231506G>C	ENSP00000275493:p.Cys571Ser	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.C571S|EGFR_uc003tqj.3_Missense_Mutation_p.C571S|EGFR_uc022adm.1_Missense_Mutation_p.C571S|EGFR_uc010kzg.2_Missense_Mutation_p.C526S|EGFR_uc022adn.1_Missense_Mutation_p.C526S|EGFR_uc011kco.2_Missense_Mutation_p.C518S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron|EGFR_uc003tqn.3_5'Flank	p.C571S	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		13	1958	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		571					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1712G>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774487	0.70107	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.65	5.65	0.86999	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.86326	0.5906	H	0.96142	3.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	D	0.90265	0.4303	10	0.87932	D	0	.	18.3001	0.90160	0.0:0.0:1.0:0.0	.	526;571;571;571	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	S	526;571;441;571;571;571;518;365	ENSP00000415559:C526S;ENSP00000342376:C571S;ENSP00000345973:C571S;ENSP00000275493:C571S;ENSP00000410031:C571S;ENSP00000395243:C518S	ENSP00000275493:C571S	C	+	2	0	EGFR	55199000	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	9.098000	0.94202	2.678000	0.91216	0.655000	0.94253	TGC		0.557	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
ASNS	440	broad.mit.edu	37	7	97483890	97483890	+	Splice_Site	SNP	A	A	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr7:97483890A>G	ENST00000394309.3	-	10	1710		c.e10+1		ASNS_ENST00000394308.3_Splice_Site|ASNS_ENST00000455086.1_Splice_Site|ASNS_ENST00000175506.4_Splice_Site|ASNS_ENST00000444334.1_Splice_Site|ASNS_ENST00000422745.1_Splice_Site|ASNS_ENST00000437628.1_Splice_Site	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TAAAAATATTACCCATGGGCA	0.383																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	uc003uot.4																			0				ovary(1)	1						c.e10+1		Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						58.0	64.0	62.0					7																	97483890		2203	4300	6503	SO:0001630	splice_region_variant	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97483890A>G	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1238+1T>C	7.37:g.97483890A>G						ASNS_uc011kin.2_Splice_Site_p.G330_splice|ASNS_uc011kio.2_Splice_Site_p.G392_splice|ASNS_uc003uou.4_Splice_Site_p.G413_splice|ASNS_uc003uov.4_Splice_Site_p.G413_splice|ASNS_uc003uox.4_Splice_Site_p.G330_splice	p.G413_splice	NM_133436	NP_001171548	P08243	ASNS_HUMAN			10	1744	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		413			Asparagine synthetase.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Splice_Site	SNP	ENST00000394309.3	37	c.1238_splice	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.364853	0.41902	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	.	.	.	3.11	3.11	0.35812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9332	0.41534	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASNS	97321826	1.000000	0.71417	0.299000	0.25016	0.246000	0.25737	8.150000	0.89634	1.685000	0.51034	0.460000	0.39030	.		0.383	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356	Intron
OR2A25	392138	broad.mit.edu	37	7	143771890	143771890	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr7:143771890T>C	ENST00000408898.2	+	1	616	c.578T>C	c.(577-579)aTt>aCt	p.I193T		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GATACCCACATTAATGAGGTA	0.433																																						uc011ktx.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(577-579)aTt>aCt		Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.							145.0	149.0	148.0					7																	143771890		2048	4229	6277	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771890T>C		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.578T>C	7.37:g.143771890T>C	ENSP00000386167:p.Ile193Thr						p.I193T	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			0	578	+	Melanoma(164;0.0783)		193					B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.578T>C	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	T	3.391	-0.124320	0.06795	.	.	ENSG00000221933	ENST00000408898	T	0.00183	8.6	4.84	1.08	0.20341	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	L	0.39566	1.225	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.39761	-0.9598	9	0.44086	T	0.13	-3.152	0.8644	0.01200	0.1584:0.1775:0.1643:0.4998	.	193	A4D2G3	O2A25_HUMAN	T	193	ENSP00000386167:I193T	ENSP00000386167:I193T	I	+	2	0	OR2A25	143402823	0.000000	0.05858	0.015000	0.15790	0.279000	0.26890	0.053000	0.14184	0.033000	0.15463	0.460000	0.39030	ATT		0.433	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1		
IKBKB	3551	broad.mit.edu	37	8	42163910	42163910	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr8:42163910G>A	ENST00000520810.1	+	7	713	c.527G>A	c.(526-528)gGc>gAc	p.G176D	IKBKB_ENST00000520835.1_Missense_Mutation_p.G174D|IKBKB_ENST00000416505.2_Missense_Mutation_p.G117D|IKBKB_ENST00000519735.1_Missense_Mutation_p.G176D|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTGGATCAGGGCAGTCTTTGC	0.478																																						uc003xow.2																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(526-528)gGc>gAc		Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA.	Arsenic trioxide(DB01169)|Auranofin(DB00995)						127.0	119.0	122.0					8																	42163910		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42163910G>A	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.527G>A	8.37:g.42163910G>A	ENSP00000430684:p.Gly176Asp					IKBKB_uc003xov.3_Missense_Mutation_p.G176D|IKBKB_uc010lxh.2_Missense_Mutation_p.G71D|IKBKB_uc011lco.2_Non-coding_Transcript|IKBKB_uc003xox.2_5'UTR|IKBKB_uc010lxj.2_Intron|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Missense_Mutation_p.G174D|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Missense_Mutation_p.G117D	p.G176D	NM_001556	NP_001547	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		6	713	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	176			Protein kinase.		B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.527G>A	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865769	0.91511	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000519735;ENST00000520835	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.12	5.12	0.69794	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.138925	0.64402	D	0.000003	T	0.55162	0.1903	L	0.42008	1.315	0.80722	D	1	P;B;B;B;B	0.40578	0.722;0.046;0.014;0.006;0.005	B;B;B;B;B	0.41374	0.355;0.049;0.033;0.052;0.009	T	0.53858	-0.8379	10	0.05959	T	0.93	.	18.9321	0.92570	0.0:0.0:1.0:0.0	.	117;174;127;176;176	B4E0U4;O14920-2;Q59GL9;O14920;Q32ND9	.;.;.;IKKB_HUMAN;.	D	176;117;176;174	ENSP00000430684:G176D;ENSP00000404920:G117D;ENSP00000430483:G176D;ENSP00000430868:G174D	ENSP00000404920:G117D	G	+	2	0	IKBKB	42283067	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.809000	0.99208	2.535000	0.85469	0.655000	0.94253	GGC		0.478	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1		
DCAF4L2	138009	broad.mit.edu	37	8	88886131	88886131	+	Silent	SNP	G	G	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr8:88886131G>C	ENST00000319675.3	-	1	165	c.69C>G	c.(67-69)ctC>ctG	p.L23L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	23										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						AAGGTGCATTGAGTCCCACTC	0.532																																						uc003ydz.3																			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.(67-69)ctC>ctG		Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.							76.0	71.0	73.0					8																	88886131		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88886131G>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.69C>G	8.37:g.88886131G>C							p.L23L	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			0	166	-			23						Silent	SNP	ENST00000319675.3	37	c.69C>G	CCDS6245.1																																																																																				0.532	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
RIMS2	9699	broad.mit.edu	37	8	105001597	105001597	+	Nonsense_Mutation	SNP	C	C	T	rs201715496		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr8:105001597C>T	ENST00000436393.2	+	15	2567	c.2326C>T	c.(2326-2328)Cga>Tga	p.R776*	RIMS2_ENST00000262231.10_Nonsense_Mutation_p.R837*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.R998*|RIMS2_ENST00000507740.1_Nonsense_Mutation_p.R790*			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1060					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TACAATTAGCCGAATGGACAG	0.368										HNSCC(12;0.0054)																												uc003yls.3																			0		p.R776*(1)|p.R776Q(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2326-2328)Cga>Tga		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.							122.0	120.0	121.0					8																	105001597		1870	4094	5964	SO:0001587	stop_gained	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105001597C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2326C>T	8.37:g.105001597C>T	ENSP00000390665:p.Arg776*	HNSCC(12;0.0054)				RIMS2_uc003ylp.3_Nonsense_Mutation_p.R998*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R790*|RIMS2_uc003ylq.3_Nonsense_Mutation_p.R790*|RIMS2_uc003ylr.3_Nonsense_Mutation_p.R837*	p.R776*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		14	2567	+			1060					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	ENST00000436393.2	37	c.2326C>T		.	.	.	.	.	.	.	.	.	.	C	40	8.178250	0.98691	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	.	.	.	5.54	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	13.2307	0.59941	0.2845:0.7155:0.0:0.0	.	.	.	.	X	998;1013;998;1060;837;790;790;776	.	ENSP00000262231:R837X	R	+	1	2	RIMS2	105070773	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.921000	0.40035	2.617000	0.88574	0.484000	0.47621	CGA		0.368	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
COLEC10	10584	broad.mit.edu	37	8	120101985	120101985	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr8:120101985C>T	ENST00000332843.2	+	2	256	c.215C>T	c.(214-216)cCg>cTg	p.P72L	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	72	Collagen-like.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CGCATGGGGCCGAAAGGTAAC	0.413																																						uc003yoo.3																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(214-216)cCg>cTg		Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.							119.0	103.0	108.0					8																	120101985		2203	4300	6503	SO:0001583	missense	10584					collagen|cytoplasm	mannose binding	g.chr8:120101985C>T	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.215C>T	8.37:g.120101985C>T	ENSP00000332723:p.Pro72Leu						p.P72L	NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		1	312	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		72			Collagen-like.		Q3SYH6|Q6UW19	Missense_Mutation	SNP	ENST00000332843.2	37	c.215C>T	CCDS6327.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811692	0.32053	.	.	ENSG00000184374	ENST00000332843	D	0.90955	-2.76	5.91	5.91	0.95273	.	0.359400	0.30959	N	0.008523	D	0.87684	0.6239	L	0.38531	1.155	0.58432	D	0.999992	P	0.39094	0.659	B	0.41860	0.368	D	0.85623	0.1265	10	0.29301	T	0.29	-4.9476	15.7986	0.78433	0.0:1.0:0.0:0.0	.	72	Q9Y6Z7	COL10_HUMAN	L	72	ENSP00000332723:P72L	ENSP00000332723:P72L	P	+	2	0	COLEC10	120171166	0.966000	0.33281	0.747000	0.31113	0.101000	0.19017	4.021000	0.57196	2.793000	0.96121	0.655000	0.94253	CCG		0.413	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1		
SHB	6461	broad.mit.edu	37	9	37919970	37919970	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr9:37919970C>T	ENST00000377707.3	-	6	1943	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	RP11-613M10.9_ENST00000540557.1_Intron	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	460	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TTGGTTTTGGCCAGTTTCATG	0.502																																						uc004aax.3																			0				central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11						c.(1378-1380)Gcc>Acc		Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.							124.0	127.0	126.0					9																	37919970		1957	4154	6111	SO:0001583	missense	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:37919970C>T		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.1378G>A	9.37:g.37919970C>T	ENSP00000366936:p.Ala460Thr						p.A460T	NM_003028	NP_003019	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	5	1946	-		all_epithelial(88;0.122)	460			SH2.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	ENST00000377707.3	37	c.1378G>A	CCDS43806.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478897	0.44044	.	.	ENSG00000107338	ENST00000377707	T	0.30182	1.54	5.51	3.44	0.39384	SH2 motif (4);	0.234704	0.29846	N	0.011042	T	0.12561	0.0305	N	0.10760	0.04	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.09729	-1.0661	10	0.33141	T	0.24	-22.2003	2.9378	0.05820	0.2161:0.5358:0.0:0.2481	.	460	Q15464	SHB_HUMAN	T	460	ENSP00000366936:A460T	ENSP00000366936:A460T	A	-	1	0	SHB	37909970	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.440000	0.21592	1.323000	0.45263	0.655000	0.94253	GCC		0.502	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1		
SPATA31A3	727830	broad.mit.edu	37	9	40702866	40702866	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr9:40702866A>T	ENST00000356699.5	+	4	552	c.523A>T	c.(523-525)Acc>Tcc	p.T175S	SPATA31A3_ENST00000463536.1_3'UTR|RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	175	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGGCCCAATGACCACCTCAGT	0.592																																						uc010mmj.3																			0				kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26						c.(523-525)Acc>Tcc		Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.							6.0	6.0	6.0					9																	40702866		1067	2789	3856	SO:0001583	missense	727830					integral to membrane		g.chr9:40702866A>T			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.523A>T	9.37:g.40702866A>T	ENSP00000349132:p.Thr175Ser						p.T175S	NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	3	552	+			175			Pro-rich.			Missense_Mutation	SNP	ENST00000356699.5	37	c.523A>T	CCDS47969.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.531811	0.27387	.	.	ENSG00000147926	ENST00000356699	T	0.04317	3.65	2.19	2.19	0.27852	.	1.239200	0.06065	N	0.659093	T	0.04407	0.0121	L	0.34521	1.04	0.09310	N	1	B	0.29552	0.248	B	0.26202	0.067	T	0.42666	-0.9438	10	0.21540	T	0.41	-0.4567	6.3045	0.21131	1.0:0.0:0.0:0.0	.	175	Q5VYP0	F75A3_HUMAN	S	175	ENSP00000349132:T175S	ENSP00000349132:T175S	T	+	1	0	FAM75A3	40692866	0.000000	0.05858	0.001000	0.08648	0.101000	0.19017	-0.910000	0.04054	1.259000	0.44117	0.332000	0.21555	ACC		0.592	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124	
TUBBP5	643224	broad.mit.edu	37	9	141070064	141070064	+	RNA	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr9:141070064G>A	ENST00000503395.1	+	0	1144									tubulin, beta pseudogene 5																		TGGCAGGTACGTGCCCCGCGC	0.716																																						uc010ncq.3																			0											c.(304-306)Gtg>Atg		Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																																						643224							g.chr9:141070064G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070064G>A							p.V102M							3	1144	+									Translation_Start_Site	SNP	ENST00000503395.1	37	c.304G>A																																																																																					0.716	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156	
