#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
ZFP69	339559	broad.mit.edu	37	1	40960711	40960711	+	Silent	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr1:40960711G>A	ENST00000372706.1	+	6	1567	c.561G>A	c.(559-561)acG>acA	p.T187T	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Silent_p.T187T			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTTATTCCACGTTGAGAAAAG	0.398																																						uc010ojk.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13						c.(562-564)acG>acA		Homo sapiens zinc finger protein 642 (ZNF642), mRNA.							76.0	77.0	76.0					1																	40960711		2203	4300	6503	SO:0001819	synonymous_variant	339559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:40960711G>A	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.561G>A	1.37:g.40960711G>A						ZNF642_uc001cfo.3_Silent_p.T187T|ZNF642_uc009vwb.3_Silent_p.T187T	p.T188T	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)		5	858	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	187					Q5SWM5|Q6ZWK8	Silent	SNP	ENST00000372706.1	37	c.564G>A	CCDS30686.1																																																																																				0.398	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494	
PRKG1	5592	broad.mit.edu	37	10	54053584	54053584	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr10:54053584G>A	ENST00000401604.2	+	18	2134	c.1940G>A	c.(1939-1941)aGt>aAt	p.S647N	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.S365N|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373980.4_Missense_Mutation_p.S662N|PRKG1_ENST00000373985.1_Missense_Mutation_p.S635N			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	647	AGC-kinase C-terminal.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ACAGACACAAGTAATTTTGAC	0.388																																						uc001jjm.3																			0		p.L647L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53						c.(1939-1941)aGt>aAt		Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.							153.0	141.0	145.0					10																	54053584		2203	4300	6503	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:54053584G>A		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1940G>A	10.37:g.54053584G>A	ENSP00000384200:p.Ser647Asn					PRKG1_uc001jjo.3_Missense_Mutation_p.S662N|PRKG1_uc009xow.2_Missense_Mutation_p.S365N|LOC100506939_uc021pqu.1_Intron	p.S647N	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	17	2168	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	647			AGC-kinase C-terminal.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.1940G>A	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142378	0.77888	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.08807	3.05;3.05;3.05	5.69	5.69	0.88448	AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.27027	0.0662	M	0.82193	2.58	0.80722	D	1	B;P;P	0.49358	0.011;0.821;0.923	B;P;P	0.51777	0.143;0.679;0.548	T	0.01018	-1.1479	10	0.87932	D	0	-19.8244	19.776	0.96393	0.0:0.0:1.0:0.0	.	365;662;647	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	N	647;635;662;365;259	ENSP00000384200:S647N;ENSP00000363097:S635N;ENSP00000363092:S662N	ENSP00000327642:S365N	S	+	2	0	PRKG1	53723590	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.420000	0.97426	2.840000	0.97914	0.655000	0.94253	AGT		0.388	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
RRP12	23223	broad.mit.edu	37	10	99130292	99130292	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr10:99130292G>A	ENST00000370992.4	-	23	2720	c.2609C>T	c.(2608-2610)tCg>tTg	p.S870L	RRP12_ENST00000536831.1_Missense_Mutation_p.S588L|RRP12_ENST00000315563.6_Missense_Mutation_p.S770L|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.S809L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	870						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.S870L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGCGCCCACCGACACCTCCTT	0.612																																						uc001knf.3																			1	Substitution - Missense(1)	p.S870L(2)	skin(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2608-2610)tCg>tTg		Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.							108.0	82.0	91.0					10																	99130292		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99130292G>A		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2609C>T	10.37:g.99130292G>A	ENSP00000360031:p.Ser870Leu					RRP12_uc009xvl.3_5'UTR|RRP12_uc009xvm.3_Missense_Mutation_p.S588L|RRP12_uc010qou.2_Missense_Mutation_p.S809L|RRP12_uc009xvn.3_Missense_Mutation_p.S770L	p.S870L	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	22	2748	-		Colorectal(252;0.162)	870					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.2609C>T	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026941	0.75390	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	4.71	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80259	0.4590	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;0.995	P;D;P;P	0.64595	0.866;0.927;0.899;0.738	D	0.83471	0.0059	10	0.87932	D	0	-7.8431	17.6528	0.88169	0.0:0.0:1.0:0.0	.	809;770;588;870	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	L	870;770;809;588	ENSP00000360031:S870L;ENSP00000324315:S770L;ENSP00000414863:S809L;ENSP00000446184:S588L	ENSP00000324315:S770L	S	-	2	0	RRP12	99120282	1.000000	0.71417	0.942000	0.38095	0.392000	0.30506	9.488000	0.97947	2.174000	0.68829	0.313000	0.20887	TCG		0.612	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179	
RIC8A	60626	broad.mit.edu	37	11	209871	209871	+	Silent	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr11:209871G>A	ENST00000526104.1	+	3	1941	c.597G>A	c.(595-597)acG>acA	p.T199T	BET1L_ENST00000410108.1_5'Flank|BET1L_ENST00000529614.2_5'Flank|RIC8A_ENST00000325207.5_Silent_p.T199T|BET1L_ENST00000382762.3_5'Flank|RIC8A_ENST00000527696.1_Silent_p.T193T|BET1L_ENST00000332865.6_5'Flank|BET1L_ENST00000325147.9_5'Flank|BET1L_ENST00000486280.1_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	199					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGGAGCTGACGCTGGGGGTGA	0.602																																						uc001lof.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13						c.(595-597)acG>acA		Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA.							51.0	47.0	48.0					11																	209871		2203	4300	6503	SO:0001819	synonymous_variant	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:209871G>A	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.597G>A	11.37:g.209871G>A						BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001log.3_Silent_p.T199T|RIC8A_uc001loh.3_Silent_p.T192T	p.T199T	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	2	922	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	199					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Silent	SNP	ENST00000526104.1	37	c.597G>A		.	.	.	.	.	.	.	.	.	.	G	8.707	0.911232	0.17833	.	.	ENSG00000177963	ENST00000527728	.	.	.	4.45	-8.05	0.01106	.	.	.	.	.	T	0.35941	0.0949	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41484	-0.9506	4	.	.	.	-27.3145	3.4667	0.07552	0.2705:0.4499:0.1149:0.1648	.	.	.	.	H	81	.	.	R	+	2	0	RIC8A	199871	0.000000	0.05858	0.313000	0.25210	0.656000	0.38851	-6.581000	0.00060	-1.414000	0.02025	-0.305000	0.09177	CGC		0.602	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932	
OR52A4	390053	broad.mit.edu	37	11	5142008	5142008	+	RNA	SNP	C	C	T	rs532765750		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr11:5142008C>T	ENST00000498233.1	-	0	1014							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCCAAATCTGCGAGTAAAAAA	0.368													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18243	0.0		0.0	False		,,,				2504	0.0																								0																				75.0	82.0	80.0					11																	5142008		2201	4298	6499			390053							g.chr11:5142008C>T			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142008C>T						OR52E2 (61151 upstream) : DQ656008 (377 downstream)																			Silent	SNP	ENST00000498233.1	37																																																																																						0.368	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079	
MMP3	4314	broad.mit.edu	37	11	102709358	102709358	+	Missense_Mutation	SNP	C	C	T	rs202217886	byFrequency	TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr11:102709358C>T	ENST00000299855.5	-	8	1409	c.1153G>A	c.(1153-1155)Gtg>Atg	p.V385M	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	385					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	ATTTTCCTCACGGTTGGAGGG	0.403													C|||	4	0.000798722	0.0	0.0	5008	,	,		18443	0.0		0.0	False		,,,				2504	0.0041					uc001phj.1																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1153-1155)Gtg>Atg		Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	Marimastat(DB00786)|Simvastatin(DB00641)	C	MET/VAL	0,4406		0,0,2203	126.0	119.0	121.0		1153	-1.5	0.0	11		121	1,8597	1.2+/-3.3	0,1,4298	yes	missense	MMP3	NM_002422.3	21	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	385/478	102709358	1,13003	2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102709358C>T	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1153G>A	11.37:g.102709358C>T	ENSP00000299855:p.Val385Met					DD413629_uc021qpi.1_5'Flank	p.V385M	NM_002422	NP_002413	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	7	1218	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	385					B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.1153G>A	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.455151	0.26161	0.0	1.16E-4	ENSG00000149968	ENST00000299855	T	0.15952	2.38	5.07	-1.55	0.08558	Hemopexin/matrixin (2);	0.000000	0.30676	U	0.009112	T	0.36110	0.0955	M	0.84846	2.72	0.20703	N	0.999862	D	0.62365	0.991	P	0.59889	0.865	T	0.28839	-1.0031	10	0.87932	D	0	.	11.5326	0.50618	0.0:0.5499:0.0:0.4501	.	385	P08254	MMP3_HUMAN	M	385	ENSP00000299855:V385M	ENSP00000299855:V385M	V	-	1	0	MMP3	102214568	0.003000	0.15002	0.000000	0.03702	0.024000	0.10985	0.102000	0.15272	-0.356000	0.08187	0.591000	0.81541	GTG		0.403	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422	
SCN2B	6327	broad.mit.edu	37	11	118037799	118037799	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr11:118037799G>T	ENST00000278947.5	-	4	692	c.451C>A	c.(451-453)Ccc>Acc	p.P151T		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	151	Ig-like C2-type.				cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	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;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	CGCTCAGGGGGCTCTGGAAAG	0.627																																						uc001psf.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7						c.(451-453)Ccc>Acc		Homo sapiens sodium channel, voltage-gated, type II, beta (SCN2B), mRNA.							47.0	50.0	49.0					11																	118037799		2200	4296	6496	SO:0001583	missense	6327				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118037799G>T	AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10589	protein-coding gene	gene with protein product		601327	"""sodium channel, voltage-gated, type II, beta polypeptide"", ""sodium channel, voltage-gated, type II, beta"""			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.451C>A	11.37:g.118037799G>T	ENSP00000278947:p.Pro151Thr						p.P151T	NM_004588	NP_004579	O60939	SCN2B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	3	642	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	151			Ig-like C2-type.		O75302|Q9UNN3	Missense_Mutation	SNP	ENST00000278947.5	37	c.451C>A	CCDS8390.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637682	0.87760	.	.	ENSG00000149575	ENST00000278947	D	0.97731	-4.51	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.98381	0.9462	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97894	1.0299	10	0.25751	T	0.34	-8.5151	18.1626	0.89714	0.0:0.0:1.0:0.0	.	151	O60939	SCN2B_HUMAN	T	151	ENSP00000278947:P151T	ENSP00000278947:P151T	P	-	1	0	SCN2B	117543009	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.310000	0.72830	2.640000	0.89533	0.655000	0.94253	CCC		0.627	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588	
PIWIL1	9271	broad.mit.edu	37	12	130833883	130833883	+	Silent	SNP	T	T	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr12:130833883T>A	ENST00000245255.3	+	8	1106	c.834T>A	c.(832-834)acT>acA	p.T278T		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	278	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAAGTGAGACTGTTTTGGATT	0.383																																						uc001uik.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(832-834)acT>acA		Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.							115.0	105.0	108.0					12																	130833883		2203	4300	6503	SO:0001819	synonymous_variant	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130833883T>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.834T>A	12.37:g.130833883T>A						PIWIL1_uc001uij.2_Silent_p.T278T	p.T278T	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	7	1105	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		278			PAZ.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	ENST00000245255.3	37	c.834T>A	CCDS9268.1																																																																																				0.383	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1		
IRS2	8660	broad.mit.edu	37	13	110436118	110436118	+	Silent	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr13:110436118C>T	ENST00000375856.3	-	1	2797	c.2283G>A	c.(2281-2283)ctG>ctA	p.L761L		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	761					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CCCCGTTGGGCAGCAGCTTGC	0.692																																					Melanoma(100;613 2409 40847)	uc001vqv.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(2281-2283)ctG>ctA		Homo sapiens insulin receptor substrate 2 (IRS2), mRNA.							24.0	14.0	17.0					13																	110436118		2091	4135	6226	SO:0001819	synonymous_variant	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110436118C>T	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.2283G>A	13.37:g.110436118C>T							p.L761L	NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		0	2797	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	761					Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	ENST00000375856.3	37	c.2283G>A	CCDS9510.1																																																																																				0.692	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749	
NFATC4	4776	broad.mit.edu	37	14	24845826	24845826	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr14:24845826C>T	ENST00000250373.4	+	9	2524	c.2383C>T	c.(2383-2385)Cgg>Tgg	p.R795W	NFATC4_ENST00000557451.1_Missense_Mutation_p.R725W|NFATC4_ENST00000555590.1_Missense_Mutation_p.R808W|NFATC4_ENST00000555167.1_Missense_Mutation_p.R330W|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000555453.1_Missense_Mutation_p.R783W|NFATC4_ENST00000555802.1_Missense_Mutation_p.R83W|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000556279.1_Missense_Mutation_p.R827W|NFATC4_ENST00000556759.1_Missense_Mutation_p.R330W|NFATC4_ENST00000422617.3_Missense_Mutation_p.R783W|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000553879.1_Missense_Mutation_p.R725W|NFATC4_ENST00000424781.2_Missense_Mutation_p.R808W|NFATC4_ENST00000539237.2_Missense_Mutation_p.R827W|NFATC4_ENST00000555393.1_Missense_Mutation_p.R83W|NFATC4_ENST00000554344.1_Missense_Mutation_p.R725W|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000413692.2_Missense_Mutation_p.R858W|NFATC4_ENST00000553708.1_Missense_Mutation_p.R795W	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	795	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GTATGGAGGGCGGGGCTCCTC	0.642																																						uc001wpc.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(2383-2385)Cgg>Tgg		Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.							47.0	54.0	52.0					14																	24845826		2203	4299	6502	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24845826C>T	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2383C>T	14.37:g.24845826C>T	ENSP00000250373:p.Arg795Trp					NFATC4_uc010alr.3_Intron|NFATC4_uc010tok.2_Missense_Mutation_p.R858W|NFATC4_uc010tol.2_Missense_Mutation_p.R858W|NFATC4_uc010too.2_Intron|NFATC4_uc010tom.2_Missense_Mutation_p.R808W|NFATC4_uc010ton.2_Missense_Mutation_p.R808W|NFATC4_uc010toq.2_Intron|NFATC4_uc010alt.3_Missense_Mutation_p.R827W|NFATC4_uc010top.2_Missense_Mutation_p.R827W|NFATC4_uc010tor.2_Intron|NFATC4_uc010tos.2_Missense_Mutation_p.R725W|NFATC4_uc010tot.2_Missense_Mutation_p.R783W|NFATC4_uc010tou.2_Missense_Mutation_p.R725W|NFATC4_uc010tov.2_Intron|NFATC4_uc010tow.2_Intron|NFATC4_uc010alv.3_Missense_Mutation_p.R783W|NFATC4_uc010tox.2_Missense_Mutation_p.R725W|NFATC4_uc001wpd.3_Missense_Mutation_p.R330W|NFATC4_uc010toy.2_Intron|NFATC4_uc010toz.2_Missense_Mutation_p.R330W|NFATC4_uc010tpa.2_Missense_Mutation_p.R83W|NFATC4_uc010tpb.2_Missense_Mutation_p.R83W	p.R795W	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	8	2704	+			795			Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.2383C>T	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476472	0.44044	.	.	ENSG00000100968	ENST00000413692;ENST00000555590;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000556759;ENST00000555167;ENST00000555393;ENST00000555802	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49432	3.19;3.21;3.2;3.2;3.21;3.22;3.21;2.9;2.9;2.88;2.88;2.89;1.46;1.45;0.78;0.83	5.0	0.541	0.17168	.	0.249876	0.28296	N	0.015865	T	0.25195	0.0612	N	0.08118	0	0.23720	N	0.997026	P;D;P;P;D;D;P;D;P	0.57257	0.947;0.979;0.947;0.947;0.979;0.979;0.947;0.979;0.74	B;B;B;B;B;B;B;B;B	0.43123	0.319;0.292;0.219;0.219;0.409;0.409;0.319;0.409;0.109	T	0.22452	-1.0216	10	0.56958	D	0.05	-7.9657	8.4975	0.33136	0.387:0.4715:0.1415:0.0	.	783;827;808;808;858;858;783;827;795	Q14934-9;Q14934-4;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934	.;.;.;.;.;.;.;.;NFAC4_HUMAN	W	858;808;808;827;827;795;795;725;725;725;783;783;330;330;83;83	ENSP00000388910:R858W;ENSP00000451224:R808W;ENSP00000388668:R808W;ENSP00000439350:R827W;ENSP00000452270:R827W;ENSP00000250373:R795W;ENSP00000450590:R795W;ENSP00000452349:R725W;ENSP00000450469:R725W;ENSP00000451284:R725W;ENSP00000396788:R783W;ENSP00000450686:R783W;ENSP00000451183:R330W;ENSP00000451395:R330W;ENSP00000451801:R83W;ENSP00000451590:R83W	ENSP00000250373:R795W	R	+	1	2	NFATC4	23915666	0.419000	0.25449	0.986000	0.45419	0.937000	0.57800	1.331000	0.33793	0.220000	0.20860	0.561000	0.74099	CGG		0.642	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554	
C14orf105	55195	broad.mit.edu	37	14	57949812	57949812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr14:57949812G>A	ENST00000216445.3	-	3	500	c.364C>T	c.(364-366)Cga>Tga	p.R122*	C14orf105_ENST00000422976.2_Nonsense_Mutation_p.R122*|C14orf105_ENST00000526336.1_3'UTR|C14orf105_ENST00000534126.1_Nonsense_Mutation_p.R122*	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	122										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CTGGCTTCTCGCTGGCTCAGG	0.522																																						uc010trl.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(364-366)Cga>Tga		Homo sapiens chromosome 14 open reading frame 105 (C14orf105), mRNA.							179.0	143.0	155.0					14																	57949812		2203	4300	6503	SO:0001587	stop_gained	55195							g.chr14:57949812G>A	AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.364C>T	14.37:g.57949812G>A	ENSP00000216445:p.Arg122*					C14orf105_uc001xcy.2_Nonsense_Mutation_p.R122*|C14orf105_uc010trm.1_Nonsense_Mutation_p.R34*|C14orf105_uc010trn.1_Nonsense_Mutation_p.R34*|C14orf105_uc001xcz.2_Nonsense_Mutation_p.R122*|C14orf105_uc010aox.1_Non-coding_Transcript|C14orf105_uc010aoy.2_Nonsense_Mutation_p.R44*	p.R122*	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN			2	507	-			122					Q53G04	Nonsense_Mutation	SNP	ENST00000216445.3	37	c.364C>T	CCDS9730.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149889	0.57151	.	.	ENSG00000100557	ENST00000216445;ENST00000422976;ENST00000534126	.	.	.	4.92	1.78	0.24846	.	0.882998	0.09683	N	0.769470	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-1.1015	7.0451	0.25040	0.0:0.1622:0.4636:0.3741	.	.	.	.	X	122	.	ENSP00000216445:R122X	R	-	1	2	C14orf105	57019565	0.844000	0.29557	0.998000	0.56505	0.425000	0.31504	1.174000	0.31932	0.639000	0.30564	-0.188000	0.12872	CGA		0.522	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168	
ATP10A	57194	broad.mit.edu	37	15	25924506	25924506	+	Silent	SNP	A	A	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr15:25924506A>T	ENST00000356865.6	-	21	4593	c.4482T>A	c.(4480-4482)tcT>tcA	p.S1494S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1494					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACCGCCTTGAAGATGCTCCTA	0.418																																						uc010ayu.3																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(4480-4482)tcT>tcA		Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.							56.0	59.0	58.0					15																	25924506		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25924506A>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4482T>A	15.37:g.25924506A>T							p.S1494S	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	20	4588	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1494					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.4482T>A	CCDS32178.1																																																																																				0.418	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
CACNA1H	8912	broad.mit.edu	37	16	1259347	1259347	+	Missense_Mutation	SNP	G	G	A	rs376491138		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:1259347G>A	ENST00000348261.5	+	17	3927	c.3679G>A	c.(3679-3681)Gac>Aac	p.D1227N	RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Missense_Mutation_p.D1227N|CACNA1H_ENST00000565831.1_Missense_Mutation_p.D1227N	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1227					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CCTGCCCAGCGACTTCTTCCT	0.736																																						uc002cks.3																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(3679-3681)Gac>Aac		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	Flunarizine(DB04841)|Mibefradil(DB01388)	G	ASN/ASP,ASN/ASP	0,4168		0,0,2084	21.0	23.0	23.0		3679,3679	2.7	1.0	16		23	1,8313		0,1,4156	no	missense,missense	CACNA1H	NM_001005407.1,NM_021098.2	23,23	0,1,6240	AA,AG,GG		0.012,0.0,0.0080	benign,benign	1227/2348,1227/2354	1259347	1,12481	2084	4157	6241	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1259347G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3679G>A	16.37:g.1259347G>A	ENSP00000334198:p.Asp1227Asn					CACNA1H_uc002ckt.3_Missense_Mutation_p.D1227N|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank	p.D1227N	NM_021098	NP_066921	O95180	CAC1H_HUMAN			16	3927	+		Hepatocellular(780;0.00369)	1227					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.3679G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666648	0.29604	0.0	1.2E-4	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96427	-4.01;-3.96	3.67	2.67	0.31697	.	59.016000	0.00166	N	0.000000	D	0.93703	0.7988	L	0.48642	1.525	0.22412	N	0.999122	P;P	0.38711	0.462;0.643	B;B	0.26517	0.07;0.054	D	0.84790	0.0778	10	0.39692	T	0.17	.	11.9088	0.52727	0.0:0.1776:0.8224:0.0	.	1227;1227	O95180-2;O95180	.;CAC1H_HUMAN	N	1227	ENSP00000334198:D1227N;ENSP00000351401:D1227N	ENSP00000334198:D1227N	D	+	1	0	CACNA1H	1199348	1.000000	0.71417	0.995000	0.50966	0.101000	0.19017	4.683000	0.61679	0.696000	0.31696	0.491000	0.48974	GAC		0.736	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407	
CORO7	79585	broad.mit.edu	37	16	4409376	4409376	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:4409376C>T	ENST00000251166.4	-	23	2406	c.2261G>A	c.(2260-2262)cGt>cAt	p.R754H	CORO7_ENST00000539968.1_Missense_Mutation_p.R534H|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R754H|CORO7_ENST00000574025.1_Missense_Mutation_p.R669H|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000537233.2_Missense_Mutation_p.R736H	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	754					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CAGGAATACACGGGTGTCGCC	0.667											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002cwf.3																			0											c.(2260-2262)cGt>cAt		Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.							56.0	49.0	52.0					16																	4409376		2197	4299	6496	SO:0001583	missense	79585							g.chr16:4409376C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2261G>A	16.37:g.4409376C>T	ENSP00000251166:p.Arg754His		OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	618	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.R534H|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.R754H|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.R736H|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.R669H|CORO7-PAM16_uc002cwi.1_Missense_Mutation_p.R534H	p.R754H	NM_001201479	NP_001188408					22	2704	-								B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	c.2261G>A	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274285	0.80580	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.32023	1.47;1.47	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);Domain of unknown function DUF1900 (1);	0.057993	0.64402	D	0.000002	T	0.56920	0.2018	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.994;0.999;1.0;0.999;1.0	T	0.55309	-0.8161	10	0.56958	D	0.05	-17.4984	19.4755	0.94985	0.0:1.0:0.0:0.0	.	669;736;534;754;735	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	H	754;669;534	ENSP00000251166:R754H;ENSP00000446221:R534H	ENSP00000251166:R754H	R	-	2	0	CORO7	4349377	1.000000	0.71417	0.964000	0.40570	0.082000	0.17680	6.938000	0.75904	2.704000	0.92352	0.655000	0.94253	CGT		0.667	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535	
MGRN1	23295	broad.mit.edu	37	16	4731589	4731589	+	Silent	SNP	G	G	A	rs372689801		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:4731589G>A	ENST00000399577.5	+	13	1263	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	MGRN1_ENST00000588994.1_Silent_p.S368S|MGRN1_ENST00000415496.1_Silent_p.S369S|MGRN1_ENST00000262370.7_Silent_p.S390S|MGRN1_ENST00000586183.1_Silent_p.S368S	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	390					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						AGCCCATCTCGCTGCTCGAGG	0.647																																						uc002cxa.3																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1168-1170)tcG>tcA		Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.		G	,,,	1,4183		0,1,2091	37.0	43.0	41.0		1104,1170,1104,1170	1.3	1.0	16		41	0,8422		0,0,4211	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MGRN1	NM_001142289.2,NM_001142290.2,NM_001142291.2,NM_015246.3	,,,	0,1,6302	AA,AG,GG		0.0,0.0239,0.0079	,,,	368/555,390/553,368/531,390/577	4731589	1,12605	2092	4211	6303	SO:0001819	synonymous_variant	23295				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4731589G>A	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.1170G>A	16.37:g.4731589G>A						MGRN1_uc002cwz.3_Silent_p.S390S|MGRN1_uc010uxo.2_Silent_p.S368S|MGRN1_uc010uxp.2_Silent_p.S368S|MGRN1_uc010btw.3_Silent_p.S369S|MGRN1_uc010uxq.2_Non-coding_Transcript	p.S390S	NM_015246	NP_056061	O60291	MGRN1_HUMAN			12	1307	+			390					A4URL3|A4URL4|Q86W76	Silent	SNP	ENST00000399577.5	37	c.1170G>A	CCDS45402.1																																																																																				0.647	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2		
NKD1	85407	broad.mit.edu	37	16	50664787	50664787	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:50664787C>T	ENST00000268459.3	+	8	885	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	221					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TGAGGACCTGCGGAGCTGGGA	0.612																																						uc002egg.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(661-663)Cgg>Tgg		Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.							42.0	36.0	38.0					16																	50664787		2182	4294	6476	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50664787C>T	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.661C>T	16.37:g.50664787C>T	ENSP00000268459:p.Arg221Trp						p.R221W	NM_033119	NP_149110	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	7	885	+		all_cancers(37;0.229)	221					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.661C>T	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268892	0.80469	.	.	ENSG00000140807	ENST00000268459	T	0.73047	-0.71	4.69	3.66	0.41972	.	0.053955	0.64402	D	0.000001	T	0.81143	0.4761	M	0.79258	2.445	0.46396	D	0.999025	D	0.89917	1.0	D	0.70227	0.968	T	0.82682	-0.0336	10	0.87932	D	0	-10.1444	9.2432	0.37509	0.3937:0.6063:0.0:0.0	.	221	Q969G9	NKD1_HUMAN	W	221	ENSP00000268459:R221W	ENSP00000268459:R221W	R	+	1	2	NKD1	49222288	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	3.916000	0.56416	2.146000	0.66826	0.467000	0.42956	CGG		0.612	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1		
CNGB1	1258	broad.mit.edu	37	16	57949167	57949167	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:57949167G>A	ENST00000251102.8	-	23	2350	c.2290C>T	c.(2290-2292)Ccc>Tcc	p.P764S	CNGB1_ENST00000564448.1_Missense_Mutation_p.P758S	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	764					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						AAACAGCGGGGCAGGCGGAGG	0.602																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(2290-2292)Ccc>Tcc		Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.							39.0	43.0	42.0					16																	57949167		1937	4127	6064	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57949167G>A	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2290C>T	16.37:g.57949167G>A	ENSP00000251102:p.Pro764Ser					CNGB1_uc010cdh.2_Missense_Mutation_p.P758S	p.P764S	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			22	2355	-			764					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.2290C>T	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165205	0.78339	.	.	ENSG00000070729	ENST00000251102	T	0.52295	0.67	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.70919	0.3279	M	0.87456	2.885	0.80722	D	1	B;D	0.60160	0.065;0.987	B;P	0.60609	0.03;0.877	T	0.75260	-0.3380	10	0.51188	T	0.08	.	18.0549	0.89361	0.0:0.0:1.0:0.0	.	136;764	Q14028-2;Q14028	.;CNGB1_HUMAN	S	764	ENSP00000251102:P764S	ENSP00000251102:P764S	P	-	1	0	CNGB1	56506668	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.371000	0.97162	2.497000	0.84241	0.655000	0.94253	CCC		0.602	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297	
MYH4	4622	broad.mit.edu	37	17	10355578	10355578	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr17:10355578G>A	ENST00000255381.2	-	27	3528	c.3418C>T	c.(3418-3420)Cgc>Tgc	p.R1140C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1140					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGGTCAGAGCGCTGCTTCTCT	0.582																																						uc002gmn.3																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(3418-3420)Cgc>Tgc		Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.							60.0	66.0	64.0					17																	10355578		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10355578G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3418C>T	17.37:g.10355578G>A	ENSP00000255381:p.Arg1140Cys					AK097500_uc002gml.1_Intron	p.R1140C	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			26	3529	-			1140						Missense_Mutation	SNP	ENST00000255381.2	37	c.3418C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861742	0.71949	.	.	ENSG00000141048	ENST00000255381	D	0.82893	-1.66	5.4	4.36	0.52297	Myosin tail (1);	0.000000	0.35291	U	0.003304	D	0.93446	0.7909	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94902	0.8057	10	0.87932	D	0	.	15.2147	0.73254	0.0:0.0:0.8587:0.1413	.	1140	Q9Y623	MYH4_HUMAN	C	1140	ENSP00000255381:R1140C	ENSP00000255381:R1140C	R	-	1	0	MYH4	10296303	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.794000	0.55492	2.685000	0.91497	0.655000	0.94253	CGC		0.582	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
DNAH9	1770	broad.mit.edu	37	17	11572540	11572540	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr17:11572540C>T	ENST00000262442.4	+	16	2959	c.2891C>T	c.(2890-2892)cCa>cTa	p.P964L	DNAH9_ENST00000454412.2_Missense_Mutation_p.P964L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	964	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTCTGGTGCCACGGCTTTCC	0.527																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(2890-2892)cCa>cTa		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							112.0	105.0	107.0					17																	11572540		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11572540C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2891C>T	17.37:g.11572540C>T	ENSP00000262442:p.Pro964Leu					DNAH9_uc010coo.3_Missense_Mutation_p.P258L	p.P964L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	15	2959	+		Breast(5;0.0122)|all_epithelial(5;0.131)	964			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2891C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070530	0.93950	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.26223	1.8;1.75	5.6	5.6	0.85130	.	0.065102	0.64402	D	0.000007	T	0.40886	0.1135	M	0.85197	2.74	0.80722	D	1	P	0.40376	0.715	B	0.42062	0.374	T	0.34601	-0.9822	10	0.23891	T	0.37	.	19.599	0.95552	0.0:1.0:0.0:0.0	.	964	Q9NYC9	DYH9_HUMAN	L	964	ENSP00000262442:P964L;ENSP00000414874:P964L	ENSP00000262442:P964L	P	+	2	0	DNAH9	11513265	1.000000	0.71417	0.981000	0.43875	0.921000	0.55340	5.771000	0.68881	2.632000	0.89209	0.655000	0.94253	CCA		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
ERAL1	26284	broad.mit.edu	37	17	27182172	27182172	+	Silent	SNP	A	A	G			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr17:27182172A>G	ENST00000254928.5	+	1	217	c.120A>G	c.(118-120)caA>caG	p.Q40Q	ERAL1_ENST00000578001.1_3'UTR|FAM222B_ENST00000583953.1_5'Flank	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	40					ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			TAGGCTTCCAACGGAGGTGCG	0.627																																						uc002hcy.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11						c.(118-120)caA>caG		Homo sapiens Era G-protein-like 1 (E. coli) (ERAL1), mRNA.							87.0	78.0	81.0					17																	27182172		2203	4300	6503	SO:0001819	synonymous_variant	26284				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding	g.chr17:27182172A>G	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"""Era (E. coli G-protein homolog)-like 1"", ""Era G-protein-like 1 (E. coli)"""			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.120A>G	17.37:g.27182172A>G						ERAL1_uc002hcx.1_Silent_p.Q40Q|ERAL1_uc002hcz.1_Non-coding_Transcript|ERAL1_uc002hda.1_5'Flank	p.Q40Q	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)		0	130	+	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		40					B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Silent	SNP	ENST00000254928.5	37	c.120A>G	CCDS11244.1																																																																																				0.627	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2		
ICAM4	3386	broad.mit.edu	37	19	10398453	10398453	+	Silent	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:10398453G>A	ENST00000380770.3	+	2	682	c.636G>A	c.(634-636)gcG>gcA	p.A212A	ICAM4_ENST00000340992.4_Missense_Mutation_p.A187T|ICAM4_ENST00000393717.2_Silent_p.A212A|ICAM5_ENST00000221980.4_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	212	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TCTGCCACGCGCGCCTCAATC	0.642																																						uc002mnr.2																			0				breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7						c.(559-561)Gcg>Acg		Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.							68.0	66.0	66.0					19																	10398453		2203	4300	6503	SO:0001819	synonymous_variant	3386				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding	g.chr19:10398453G>A	X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5347	protein-coding gene	gene with protein product		614088	"""intercellular adhesion molecule 4, Landsteiner-Wiener blood group"", ""Landsteiner-Wiener blood group"", ""intercellular adhesion molecule 4 (LW blood group)"""	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.636G>A	19.37:g.10398453G>A						ICAM4_uc002mns.2_Silent_p.A212A|ICAM4_uc002mnt.2_Silent_p.A212A|ICAM5_uc002mnu.4_5'Flank	p.A187T	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		1	605	+			0			Ig-like C2-type 2.		A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Silent	SNP	ENST00000380770.3	37	c.559G>A	CCDS12232.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821604	0.71028	.	.	ENSG00000105371	ENST00000340992	T	0.26518	1.73	4.82	-7.64	0.01286	.	2.542110	0.02178	N	0.060282	T	0.13628	0.0330	.	.	.	0.49299	D	0.999775	B	0.29612	0.251	B	0.18561	0.022	T	0.29518	-1.0009	9	0.72032	D	0.01	0.1856	2.2675	0.04082	0.4725:0.2521:0.1558:0.1196	.	187	Q9BWR0	.	T	187	ENSP00000342114:A187T	ENSP00000342114:A187T	A	+	1	0	ICAM4	10259453	0.001000	0.12720	0.812000	0.32479	0.009000	0.06853	-2.025000	0.01435	-0.835000	0.04234	-0.314000	0.08810	GCG		0.642	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544	
OR10H1	26539	broad.mit.edu	37	19	15918076	15918076	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:15918076C>T	ENST00000334920.2	-	1	860	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGGTAAATGACGGAGGCAAAG	0.552																																						uc002nbq.2																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						c.(772-774)Gtc>Atc		Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.							115.0	88.0	97.0					19																	15918076		2203	4300	6503	SO:0001583	missense	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918076C>T	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.772G>A	19.37:g.15918076C>T	ENSP00000335596:p.Val258Ile						p.V258I	NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN			0	861	-			258					Q6IFQ2|Q96R59	Missense_Mutation	SNP	ENST00000334920.2	37	c.772G>A	CCDS12335.1	.	.	.	.	.	.	.	.	.	.	.	0.017	-1.508390	0.00984	.	.	ENSG00000186723	ENST00000334920	T	0.00107	8.72	4.96	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.150994	0.30695	N	0.009067	T	0.00039	0.0001	N	0.02181	-0.65	0.29135	N	0.879414	B	0.18013	0.025	B	0.18263	0.021	T	0.02417	-1.1162	10	0.09084	T	0.74	.	5.5472	0.17071	0.1983:0.7014:0.0:0.1004	.	258	Q9Y4A9	O10H1_HUMAN	I	258	ENSP00000335596:V258I	ENSP00000335596:V258I	V	-	1	0	OR10H1	15779076	0.000000	0.05858	0.996000	0.52242	0.300000	0.27592	-0.417000	0.07088	2.286000	0.76751	0.643000	0.83706	GTC		0.552	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1		
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:16640581_16640583delTGC	ENST00000198939.6	-	8	1074_1076	c.1038_1040delGCA	c.(1036-1041)cagcaa>caa	p.346_347QQ>Q	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_In_Frame_Del_p.335_336QQ>Q					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.67																																						uc002nei.1																			0		p.Q336Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1003-1008)cagcaa>caa		Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.																																				SO:0001651	inframe_deletion	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640581_16640583delTGC	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1038_1040delGCA	19.37:g.16640590_16640592delTGC	ENSP00000198939:p.Gln352del					MED26_uc002nee.2_Intron	p.335_336QQ>Q	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN			7	1079_1081	-			335			Gln-rich.			In_Frame_Del	DEL	ENST00000198939.6	37	c.1005_1007delGCA																																																																																					0.670	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387	
PSG9	5678	broad.mit.edu	37	19	43766196	43766196	+	Silent	SNP	G	G	A	rs150952802		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:43766196G>A	ENST00000270077.3	-	3	621	c.525C>T	c.(523-525)gaC>gaT	p.D175D	PSG9_ENST00000593948.1_Silent_p.D175D|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000244293.7_Silent_p.D175D|PSG9_ENST00000291752.5_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	175	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGTAGCTTGCGTCCAGAGTCT	0.532																																						uc002owd.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(523-525)gaC>gaT		Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.							246.0	238.0	241.0					19																	43766196		2203	4300	6503	SO:0001819	synonymous_variant	5678				female pregnancy	extracellular region		g.chr19:43766196G>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.525C>T	19.37:g.43766196G>A						PSG9_uc002owe.4_Silent_p.D175D|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Silent_p.D175D	p.D175D	NM_002784	NP_002775	Q00887	PSG9_HUMAN			2	624	-		Prostate(69;0.00682)	175			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	c.525C>T	CCDS12618.1																																																																																				0.532	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784	
PLEKHA4	57664	broad.mit.edu	37	19	49360714	49360714	+	Missense_Mutation	SNP	G	G	A	rs201722692		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:49360714G>A	ENST00000263265.6	-	9	1567	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	PLEKHA4_ENST00000596713.1_5'Flank|PLEKHA4_ENST00000355496.5_Intron	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	338	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCAGGGGGCCGCGGGGGGAGC	0.542																																						uc002pkx.3																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(1012-1014)Cgg>Tgg		Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.							12.0	17.0	15.0					19																	49360714		2159	4272	6431	SO:0001583	missense	57664					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49360714G>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1012C>T	19.37:g.49360714G>A	ENSP00000263265:p.Arg338Trp					PLEKHA4_uc010eml.3_Intron	p.R338W	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	8	1563	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	338			Pro-rich.		Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.1012C>T	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680383	0.47886	.	.	ENSG00000105559	ENST00000263265	T	0.09350	2.99	4.57	1.11	0.20524	.	0.261930	0.26708	N	0.022911	T	0.17534	0.0421	L	0.27053	0.805	0.09310	N	0.999997	D	0.89917	1.0	D	0.79784	0.993	T	0.05289	-1.0894	10	0.66056	D	0.02	.	10.6248	0.45502	0.0:0.0:0.5147:0.4853	.	338	Q9H4M7	PKHA4_HUMAN	W	338	ENSP00000263265:R338W	ENSP00000263265:R338W	R	-	1	2	PLEKHA4	54052526	0.002000	0.14202	0.044000	0.18714	0.617000	0.37484	0.318000	0.19504	0.073000	0.16731	0.462000	0.41574	CGG		0.542	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1		
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						uc002qqo.2																			10	Substitution - Missense(10)	p.D404E(20)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		Homo sapiens zinc finger protein 814 (ZNF814), mRNA.							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	p.D404E	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			2	1484	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
LRPPRC	10128	broad.mit.edu	37	2	44152273	44152273	+	Silent	SNP	C	C	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:44152273C>A	ENST00000260665.7	-	27	2886	c.2829G>T	c.(2827-2829)gtG>gtT	p.V943V		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	943					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTGTCAGCTCCACTAATTTTT	0.323																																						uc002rtr.2																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(2827-2829)gtG>gtT		Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.							134.0	142.0	139.0					2																	44152273		2202	4300	6502	SO:0001819	synonymous_variant	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44152273C>A	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2829G>T	2.37:g.44152273C>A						LRPPRC_uc010yob.1_Silent_p.V843V	p.V943V	NM_133259	NP_573566	P42704	LPPRC_HUMAN			26	2887	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	943					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	ENST00000260665.7	37	c.2829G>T	CCDS33189.1																																																																																				0.323	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259	
RAB11FIP5	26056	broad.mit.edu	37	2	73315641	73315641	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:73315641G>C	ENST00000258098.6	-	3	1345	c.1105C>G	c.(1105-1107)Caa>Gaa	p.Q369E	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	369					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GAGACAGCTTGCAAGGAGCCA	0.617																																						uc002siu.4																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1105-1107)Caa>Gaa		Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.							37.0	42.0	40.0					2																	73315641		2203	4300	6503	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73315641G>C	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1105C>G	2.37:g.73315641G>C	ENSP00000258098:p.Gln369Glu					RAB11FIP5_uc002sit.4_Missense_Mutation_p.Q291E	p.Q369E	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			2	1346	-			369					O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.1105C>G	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	G	4.091	0.014837	0.07959	.	.	ENSG00000135631	ENST00000258098	T	0.42131	0.98	4.19	4.19	0.49359	.	0.466103	0.20512	N	0.090869	T	0.21267	0.0512	N	0.08118	0	0.39028	D	0.959883	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09465	-1.0673	10	0.02654	T	1	-8.9315	15.6183	0.76784	0.0:0.0:1.0:0.0	.	369;369	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	E	369	ENSP00000258098:Q369E	ENSP00000258098:Q369E	Q	-	1	0	RAB11FIP5	73169149	0.962000	0.33011	0.989000	0.46669	0.096000	0.18686	3.396000	0.52565	2.335000	0.79485	0.462000	0.41574	CAA		0.617	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470	
DNAH6	1768	broad.mit.edu	37	2	84777113	84777113	+	Nonsense_Mutation	SNP	C	C	T	rs143013494		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:84777113C>T	ENST00000237449.6	+	8	1425	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	DNAH6_ENST00000398278.2_Nonsense_Mutation_p.R473*|DNAH6_ENST00000389394.3_Nonsense_Mutation_p.R473*			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	473	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CAAGCTAAAACGAACACCTTC	0.348																																						uc010fgb.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(1417-1419)Cga>Tga		Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.							94.0	84.0	87.0					2																	84777113		2203	4300	6503	SO:0001587	stop_gained	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84777113C>T	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1417C>T	2.37:g.84777113C>T	ENSP00000237449:p.Arg473*					DNAH6_uc002soo.3_Nonsense_Mutation_p.R52*|DNAH6_uc002sop.3_Nonsense_Mutation_p.R52*	p.R473*	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN			8	1554	+			473			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Nonsense_Mutation	SNP	ENST00000237449.6	37	c.1417C>T	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	38	6.976240	0.97975	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	.	.	.	6.02	5.13	0.70059	.	0.152826	0.30920	N	0.008608	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	7.4281	0.27111	0.302:0.6226:0.0:0.0753	.	.	.	.	X	473	.	ENSP00000237449:R473X	R	+	1	2	DNAH6	84630624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.574000	0.36482	1.530000	0.49136	0.650000	0.86243	CGA		0.348	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370	
MAP3K19	80122	broad.mit.edu	37	2	135738725	135738725	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:135738725G>A	ENST00000375845.3	-	9	3616	c.3586C>T	c.(3586-3588)Cca>Tca	p.P1196S	MAP3K19_ENST00000392918.3_Missense_Mutation_p.P330S|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_Missense_Mutation_p.P57S|MAP3K19_ENST00000375844.3_Missense_Mutation_p.P378S|MAP3K19_ENST00000392917.3_Missense_Mutation_p.P328S|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P1083S	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										ATTCCAGTTGGCATGAGCATA	0.428																																						uc002tue.1																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3586-3588)Cca>Tca		Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.							131.0	128.0	129.0					2																	135738725		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135738725G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3586C>T	2.37:g.135738725G>A	ENSP00000365005:p.Pro1196Ser					YSK4_uc002tuf.1_Missense_Mutation_p.P378S|YSK4_uc010fnc.1_Missense_Mutation_p.P330S|YSK4_uc010fnd.1_Missense_Mutation_p.P1083S|YSK4_uc010zbg.1_Missense_Mutation_p.P328S|YSK4_uc021vpz.1_Missense_Mutation_p.P57S|YSK4_uc002tuh.4_Missense_Mutation_p.P924S|YSK4_uc002tui.4_3'UTR	p.P1196S	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3617	-			1196			Protein kinase.		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.3586C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060710	0.76074	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.88	5.88	0.94601	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46145	D	0.000317	T	0.52597	0.1744	N	0.01405	-0.89	0.80722	D	1	P;D;D;D;D	0.76494	0.905;0.999;0.991;0.991;0.992	P;D;D;D;D	0.77004	0.67;0.988;0.926;0.926;0.989	T	0.57341	-0.7828	10	0.07325	T	0.83	.	19.2304	0.93836	0.0:0.0:1.0:0.0	.	328;1083;330;378;1196	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	S	1196;1083;378;330;328;586;57	ENSP00000365005:P1196S;ENSP00000351140:P1083S;ENSP00000365004:P378S;ENSP00000376650:P330S;ENSP00000376649:P328S;ENSP00000392827:P586S;ENSP00000321160:P57S	ENSP00000321160:P57S	P	-	1	0	YSK4	135455195	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.614000	0.98353	2.782000	0.95742	0.655000	0.94253	CCA		0.428	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
TTN	7273	broad.mit.edu	37	2	179605482	179605482	+	Missense_Mutation	SNP	T	T	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:179605482T>A	ENST00000591111.1	-	46	11751	c.11527A>T	c.(11527-11529)Acc>Tcc	p.T3843S	TTN_ENST00000342175.6_Missense_Mutation_p.T3989S|TTN_ENST00000589042.1_Missense_Mutation_p.T4160S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T3922S|TTN_ENST00000460472.2_Missense_Mutation_p.T3797S|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGAGAAGGTTTTCTGGGAC	0.453																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448								Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							110.0	109.0	109.0					2																	179605482		1896	4115	6011	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605482T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11527A>T	2.37:g.179605482T>A	ENSP00000465570:p.Thr3843Ser					TTN_uc021vsz.1_Missense_Mutation_p.T3989S|TTN_uc021vta.1_Missense_Mutation_p.T3922S|TTN_uc021vtb.1_Missense_Mutation_p.T3797S|TTN_uc002umz.1_Intron		NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)				-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	T	9.331	1.060596	0.19987	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61859	0.15;0.08;0.07	5.36	4.2	0.49525	.	.	.	.	.	T	0.45316	0.1336	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20887	0.049;0.049;0.049	B;B;B	0.16722	0.016;0.016;0.016	T	0.41770	-0.9490	9	0.87932	D	0	.	9.0612	0.36436	0.0:0.1483:0.0:0.8517	.	3797;3922;3989	D3DPF9;E7EQE6;E7ET18	.;.;.	S	3797;3989;3922;3797	ENSP00000434586:T3797S;ENSP00000340554:T3989S;ENSP00000352154:T3922S	ENSP00000340554:T3989S	T	-	1	0	TTN	179313727	0.026000	0.19158	0.979000	0.43373	0.691000	0.40173	0.715000	0.25822	0.871000	0.35750	0.533000	0.62120	ACC		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
GFRA4	64096	broad.mit.edu	37	20	3640606	3640606	+	Missense_Mutation	SNP	G	G	A	rs373372326	byFrequency	TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr20:3640606G>A	ENST00000319242.3	-	5	849	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	GFRA4_ENST00000290417.2_Missense_Mutation_p.R254C			Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	284					negative regulation of ossification (GO:0030279)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			large_intestine(1)|lung(2)	3						AGCAGGGAGCGTCTCTCCAGG	0.642													G|||	3	0.000599042	0.0	0.0	5008	,	,		19272	0.0		0.0	False		,,,				2504	0.0031					uc002wio.3																			0				large_intestine(1)|lung(2)	3						c.(850-852)Cgc>Tgc		Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.							25.0	25.0	25.0					20																	3640606		2200	4291	6491	SO:0001583	missense	64096					anchored to membrane|extracellular region|plasma membrane	receptor activity	g.chr20:3640606G>A	AF253318	CCDS13055.1, CCDS13056.1	20p13-p12	2008-07-16			ENSG00000125861	ENSG00000125861			13821	protein-coding gene	gene with protein product	"""persephin receptor"""					10958791, 15225646	Standard	XM_005260793		Approved		uc002win.3	Q9GZZ7	OTTHUMG00000031748	ENST00000319242.3:c.850C>T	20.37:g.3640606G>A	ENSP00000313423:p.Arg284Cys					GFRA4_uc002win.3_Missense_Mutation_p.R254C	p.R284C	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN			4	850	-			284					Q5JT74|Q9H191|Q9H192	Missense_Mutation	SNP	ENST00000319242.3	37	c.850C>T	CCDS13056.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.234832	0.22626	.	.	ENSG00000125861	ENST00000290417;ENST00000319242	.	.	.	4.59	-2.38	0.06622	.	3.230950	0.01092	N	0.005216	T	0.19967	0.0480	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27773	-1.0064	9	0.72032	D	0.01	-1.4926	5.3719	0.16144	0.3984:0.0:0.2838:0.3179	.	284;254	Q9GZZ7;Q9GZZ7-2	GFRA4_HUMAN;.	C	254;284	.	ENSP00000290417:R254C	R	-	1	0	GFRA4	3588606	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.369000	0.01076	-0.591000	0.05859	-2.276000	0.00273	CGC		0.642	GFRA4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077744.1	NM_145762	
MX2	4600	broad.mit.edu	37	21	42770891	42770891	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr21:42770891G>A	ENST00000330714.3	+	9	1401	c.1217G>A	c.(1216-1218)cGt>cAt	p.R406H	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	406					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GAGCTGCGGCGTTGCGGGGCT	0.527																																						uc002yzf.1																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(1216-1218)cGt>cAt		Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.							81.0	86.0	85.0					21																	42770891		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42770891G>A		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1217G>A	21.37:g.42770891G>A	ENSP00000333657:p.Arg406His					MX2_uc011aer.1_Non-coding_Transcript|MX2_uc002yzg.1_Missense_Mutation_p.R129H|MX2_uc010gop.1_5'UTR	p.R406H	NM_002463	NP_002454	P20592	MX2_HUMAN			8	1321	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	406					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.1217G>A	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417500	0.25552	.	.	ENSG00000183486	ENST00000330714	T	0.74002	-0.8	4.09	1.3	0.21679	Dynamin central domain (1);	0.665977	0.14674	N	0.305179	T	0.63896	0.2550	L	0.42245	1.32	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.55860	-0.8074	10	0.62326	D	0.03	-0.5719	8.2852	0.31924	0.8629:0.0:0.1371:0.0	.	406	P20592	MX2_HUMAN	H	406	ENSP00000333657:R406H	ENSP00000333657:R406H	R	+	2	0	MX2	41692761	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.357000	0.20199	0.090000	0.17273	-0.216000	0.12614	CGT		0.527	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463	
CACNA1D	776	broad.mit.edu	37	3	53757913	53757913	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr3:53757913A>G	ENST00000350061.5	+	14	2498	c.1987A>G	c.(1987-1989)Atc>Gtc	p.I663V	CACNA1D_ENST00000422281.2_Missense_Mutation_p.I663V|CACNA1D_ENST00000288139.4_Missense_Mutation_p.I683V	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	663					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTCATTATCATCTTTTCCTT	0.438																																						uc003dgv.4																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(1987-1989)Atc>Gtc		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	Verapamil(DB00661)						174.0	158.0	164.0					3																	53757913		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53757913A>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1987A>G	3.37:g.53757913A>G	ENSP00000288133:p.Ile663Val					CACNA1D_uc003dgu.4_Missense_Mutation_p.I683V|CACNA1D_uc003dgy.4_Missense_Mutation_p.I663V|CACNA1D_uc003dgw.4_Missense_Mutation_p.I330V	p.I663V	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	13	2150	+			663					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.1987A>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.475264	0.84640	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.98889	-5.21;-5.21;-5.21;-5.21	5.97	5.97	0.96955	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98883	0.9622	M	0.68952	2.095	0.80722	D	1	D;P;P;D	0.69078	0.997;0.855;0.719;0.997	D;P;P;D	0.71184	0.972;0.67;0.573;0.952	D	0.99879	1.1110	10	0.72032	D	0.01	.	16.4416	0.83903	1.0:0.0:0.0:0.0	.	663;356;663;683	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	V	663;683;663;356	ENSP00000288133:I663V;ENSP00000288139:I683V;ENSP00000409174:I663V;ENSP00000418014:I356V	ENSP00000288139:I683V	I	+	1	0	CACNA1D	53732953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.524000	0.81866	2.285000	0.76669	0.477000	0.44152	ATC		0.438	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
CNOT6L	246175	broad.mit.edu	37	4	78650009	78650009	+	Splice_Site	SNP	T	T	C	rs533556317		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr4:78650009T>C	ENST00000504123.1	-	10	1381	c.1251A>G	c.(1249-1251)tcA>tcG	p.S417S	CNOT6L_ENST00000264903.4_Splice_Site_p.S417S			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	417	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TATAAATACCTGAATCTGGCA	0.403																																						uc011ccd.2																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.e10+1		Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.							88.0	85.0	86.0					4																	78650009		1860	4099	5959	SO:0001630	splice_region_variant	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78650009T>C	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1252+1A>G	4.37:g.78650009T>C						CNOT6L_uc003hks.3_Splice_Site_p.G418_splice|CNOT6L_uc003hkt.1_Splice_Site_p.G261_splice	p.G418_splice	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN			10	1383	-			418					Q9UF92	Silent	SNP	ENST00000504123.1	37	c.1252_splice		.	.	.	.	.	.	.	.	.	.	T	13.65	2.299934	0.40694	.	.	ENSG00000138767	ENST00000515506	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	T	0.71813	0.3384	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71159	-0.4674	4	.	.	.	-2.3794	15.7114	0.77631	0.0:0.0:0.0:1.0	.	.	.	.	G	446	.	.	R	-	1	2	CNOT6L	78869033	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.246000	0.32803	2.122000	0.65172	0.460000	0.39030	AGG		0.403	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1		Silent
FRAS1	80144	broad.mit.edu	37	4	79236756	79236756	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr4:79236756C>A	ENST00000325942.6	+	16	2127	c.1687C>A	c.(1687-1689)Caa>Aaa	p.Q563K	FRAS1_ENST00000264895.6_Missense_Mutation_p.Q563K|FRAS1_ENST00000264899.6_Missense_Mutation_p.Q563K	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	563					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGCTTGTGACCAATCCTGTGA	0.478																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(1687-1689)Caa>Aaa		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							188.0	175.0	179.0					4																	79236756		1937	4143	6080	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79236756C>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1687C>A	4.37:g.79236756C>A	ENSP00000326330:p.Gln563Lys					FRAS1_uc003hkw.3_Missense_Mutation_p.Q563K|FRAS1_uc003hky.1_Missense_Mutation_p.Q267K|FRAS1_uc003hkz.3_Missense_Mutation_p.Q267K|FRAS1_uc003hla.1_Missense_Mutation_p.Q74K	p.Q563K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			15	2127	+			563					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.1687C>A	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.794|7.794	0.712293|0.712293	0.15306|0.15306	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000508900|ENST00000325942;ENST00000264895;ENST00000264899	.|T;T;T	.|0.43688	.|0.94;0.94;0.94	5.86|5.86	5.01|5.01	0.66863|0.66863	.|Growth factor, receptor (1);	.|0.320758	.|0.33309	.|N	.|0.005046	T|T	0.27384|0.27384	0.0672|0.0672	L|L	0.31664|0.31664	0.95|0.95	0.09310|0.09310	N|N	0.999994|0.999994	.|B;B;B;B	.|0.28552	.|0.215;0.215;0.06;0.017	.|B;B;B;B	.|0.29353	.|0.101;0.065;0.07;0.017	T|T	0.08932|0.08932	-1.0698|-1.0698	5|10	.|0.31617	.|T	.|0.26	.|.	5.7043|5.7043	0.17899|0.17899	0.0:0.6744:0.1687:0.1569|0.0:0.6744:0.1687:0.1569	.|.	.|563;563;563;563	.|E9PHH6;Q86XX4;E7EWM9;A2RRR8	.|.;FRAS1_HUMAN;.;.	Q|K	405|563	.|ENSP00000326330:Q563K;ENSP00000264895:Q563K;ENSP00000264899:Q563K	.|ENSP00000264895:Q563K	P|Q	+|+	2|1	0|0	FRAS1|FRAS1	79455780|79455780	0.002000|0.002000	0.14202|0.14202	0.895000|0.895000	0.35142|0.35142	0.016000|0.016000	0.09150|0.09150	0.588000|0.588000	0.23924|0.23924	2.771000|2.771000	0.95319|0.95319	0.650000|0.650000	0.86243|0.86243	CCA|CAA		0.478	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
HCN1	348980	broad.mit.edu	37	5	45303842	45303842	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:45303842A>T	ENST00000303230.4	-	6	1534	c.1477T>A	c.(1477-1479)Ttt>Att	p.F493I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	493					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AACACCTCAAATCTCAACTTG	0.413																																						uc003jok.3																			0		p.R492K(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1477-1479)Ttt>Att		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							119.0	121.0	120.0					5																	45303842		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303842A>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1477T>A	5.37:g.45303842A>T	ENSP00000307342:p.Phe493Ile						p.F493I	NM_021072	NP_066550	O60741	HCN1_HUMAN			5	1502	-			493						Missense_Mutation	SNP	ENST00000303230.4	37	c.1477T>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	A	31	5.090364	0.94149	.	.	ENSG00000164588	ENST00000303230	D	0.96459	-4.02	5.62	5.62	0.85841	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.64402	D	0.000001	D	0.96873	0.8979	M	0.80616	2.505	0.80722	D	1	P	0.52170	0.951	P	0.49140	0.601	D	0.97054	0.9766	10	0.56958	D	0.05	.	16.1172	0.81314	1.0:0.0:0.0:0.0	.	493	O60741	HCN1_HUMAN	I	493	ENSP00000307342:F493I	ENSP00000307342:F493I	F	-	1	0	HCN1	45339599	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.235000	0.95353	2.266000	0.75297	0.533000	0.62120	TTT		0.413	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
PLK2	10769	broad.mit.edu	37	5	57754862	57754862	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:57754862C>T	ENST00000274289.3	-	2	628	c.328G>A	c.(328-330)Gca>Aca	p.A110T	PLK2_ENST00000502671.1_5'Flank	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	110	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.A110T(1)		endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ATAATTTTTGCGGCGTAGACT	0.423																																						uc003jrn.3																			1	Substitution - Missense(1)	p.A110T(2)	prostate(1)	endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(328-330)Gca>Aca		Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.							198.0	201.0	200.0					5																	57754862		2203	4300	6503	SO:0001583	missense	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57754862C>T		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.328G>A	5.37:g.57754862C>T	ENSP00000274289:p.Ala110Thr					PLK2_uc021xyx.1_Missense_Mutation_p.A96T|PLK2_uc011cql.1_Missense_Mutation_p.A12T	p.A110T	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	1	508	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	110			Protein kinase.		O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	c.328G>A	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	C	36	5.672022	0.96754	.	.	ENSG00000145632	ENST00000274289;ENST00000537944;ENST00000442330	T	0.24908	1.83	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.42585	0.1209	L	0.45470	1.425	0.80722	D	1	D;D	0.71674	0.99;0.998	P;P	0.57425	0.649;0.82	T	0.01444	-1.1353	10	0.40728	T	0.16	-18.6972	20.8794	0.99867	0.0:1.0:0.0:0.0	.	12;110	B7Z9B4;Q9NYY3	.;PLK2_HUMAN	T	110;110;96	ENSP00000274289:A110T	ENSP00000274289:A110T	A	-	1	0	PLK2	57790619	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.476000	0.81055	2.941000	0.99782	0.655000	0.94253	GCA		0.423	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622	
PIK3R1	5295	broad.mit.edu	37	5	67589149	67589149	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:67589149A>T	ENST00000521381.1	+	10	1753	c.1137A>T	c.(1135-1137)aaA>aaT	p.K379N	PIK3R1_ENST00000396611.1_Missense_Mutation_p.K379N|PIK3R1_ENST00000523872.1_Missense_Mutation_p.K16N|PIK3R1_ENST00000320694.8_Missense_Mutation_p.K79N|PIK3R1_ENST00000274335.5_Missense_Mutation_p.K379N|PIK3R1_ENST00000521657.1_Missense_Mutation_p.K379N|PIK3R1_ENST00000336483.5_Missense_Mutation_p.K109N	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	379	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GAAATAACAAATTAATCAAAA	0.308			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1135-1137)aaA>aaT		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						53.0	59.0	57.0					5																	67589149		2187	4295	6482	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589149A>T	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1137A>T	5.37:g.67589149A>T	ENSP00000428056:p.Lys379Asn	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Missense_Mutation_p.K79N|PIK3R1_uc003jvd.3_Missense_Mutation_p.K109N|PIK3R1_uc003jve.3_Missense_Mutation_p.K58N|PIK3R1_uc021xzn.1_Missense_Mutation_p.K16N|PIK3R1_uc011crb.2_Missense_Mutation_p.K49N	p.K379N	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	9	1717	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	379			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1137A>T	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982589	0.74474	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	D;D;D;D;D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	5.2	2.78	0.32641	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.94955	0.8368	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.998;0.995;0.999	D	0.94107	0.7367	10	0.87932	D	0	-33.0253	9.9875	0.41849	0.8618:0.0:0.1382:0.0	.	49;109;79;379	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	N	379;379;379;379;109;79;16;109;52;16	ENSP00000428056:K379N;ENSP00000429277:K379N;ENSP00000379855:K379N;ENSP00000274335:K379N;ENSP00000430126:K109N;ENSP00000323512:K79N;ENSP00000431058:K16N;ENSP00000338554:K109N;ENSP00000429156:K52N;ENSP00000430098:K16N	ENSP00000274335:K379N	K	+	3	2	PIK3R1	67624905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.040000	0.57333	0.516000	0.28340	0.454000	0.30748	AAA		0.308	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
TGFBI	7045	broad.mit.edu	37	5	135385160	135385160	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:135385160G>T	ENST00000442011.2	+	7	965	c.804G>T	c.(802-804)atG>atT	p.M268I	TGFBI_ENST00000305126.8_Missense_Mutation_p.M268I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	268	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCAACACGATGCTTGAAGGTA	0.567																																						uc003lbf.4																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(802-804)atG>atT		Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.							58.0	64.0	62.0					5																	135385160		2067	4198	6265	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135385160G>T	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.804G>T	5.37:g.135385160G>T	ENSP00000416330:p.Met268Ile					TGFBI_uc003lbg.4_Missense_Mutation_p.M1I|TGFBI_uc003lbh.4_Missense_Mutation_p.M94I|TGFBI_uc011cyb.2_Missense_Mutation_p.M94I	p.M268I	NM_000358	NP_000349	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	965	+			268			FAS1 2.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.804G>T	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.823|6.823	0.520944|0.520944	0.13005|0.13005	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000508767|ENST00000442011;ENST00000398813;ENST00000305126	.|D;D	.|0.90563	.|-2.69;-2.69	5.94|5.94	3.96|3.96	0.45880|0.45880	.|FAS1 domain (4);	.|0.547716	.|0.19797	.|N	.|0.105821	T|T	0.78130|0.78130	0.4235|0.4235	N|N	0.04746|0.04746	-0.17|-0.17	0.31219|0.31219	N|N	0.697666|0.697666	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.09377	.|0.004;0.003	T|T	0.71988|0.71988	-0.4426|-0.4426	5|10	.|0.45353	.|T	.|0.12	-34.9571|-34.9571	7.1972|7.1972	0.25860|0.25860	0.0712:0.1208:0.683:0.1249|0.0712:0.1208:0.683:0.1249	.|.	.|1;268	.|B9ZVW9;Q15582	.|.;BGH3_HUMAN	S|I	44|268;1;268	.|ENSP00000416330:M268I;ENSP00000306306:M268I	.|ENSP00000306306:M268I	A|M	+|+	1|3	0|0	TGFBI|TGFBI	135413059|135413059	1.000000|1.000000	0.71417|0.71417	0.627000|0.627000	0.29227|0.29227	0.050000|0.050000	0.14768|0.14768	2.102000|2.102000	0.41796|0.41796	0.694000|0.694000	0.31654|0.31654	0.561000|0.561000	0.74099|0.74099	GCT|ATG		0.567	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1		
PCDHB8	56128	broad.mit.edu	37	5	140559327	140559327	+	Missense_Mutation	SNP	C	C	T	rs141057693		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:140559327C>T	ENST00000239444.2	+	1	1957	c.1712C>T	c.(1711-1713)gCg>gTg	p.A571V	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	571	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGGCTCCGCGCCCTGCACC	0.716													C|||	1	0.000199681	0.0	0.0	5008	,	,		18043	0.0		0.0	False		,,,				2504	0.001					uc011dai.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1711-1713)gCg>gTg		Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.		C	VAL/ALA	0,4348		0,0,2174	12.0	21.0	18.0		1712	2.4	0.6	5	dbSNP_134	18	5,8507		0,5,4251	no	missense	PCDHB8	NM_019120.3	64	0,5,6425	TT,TC,CC		0.0587,0.0,0.0389	benign	571/802	140559327	5,12855	2174	4256	6430	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559327C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1712C>T	5.37:g.140559327C>T	ENSP00000239444:p.Ala571Val					PCDHB16_uc003liv.3_5'Flank	p.A571V	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1957	+			571			Cadherin 6.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1712C>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667065	0.29604	0.0	5.87E-4	ENSG00000120322	ENST00000239444	T	0.60299	0.2	4.22	2.41	0.29592	Cadherin-like (1);	.	.	.	.	T	0.56978	0.2022	M	0.78456	2.415	0.09310	N	1	B	0.19583	0.037	B	0.24269	0.052	T	0.54214	-0.8327	9	0.62326	D	0.03	.	7.3544	0.26711	0.0:0.6364:0.0:0.3636	.	571	Q9UN66	PCDB8_HUMAN	V	571	ENSP00000239444:A571V	ENSP00000239444:A571V	A	+	2	0	PCDHB8	140539511	0.000000	0.05858	0.597000	0.28824	0.610000	0.37248	0.303000	0.19210	0.260000	0.21731	0.298000	0.19748	GCG		0.716	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120	
NDST1	3340	broad.mit.edu	37	5	149925000	149925000	+	Silent	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:149925000C>T	ENST00000261797.6	+	11	2599	c.2097C>T	c.(2095-2097)gtC>gtT	p.V699V	NDST1_ENST00000523767.1_Silent_p.V699V|snoU13_ENST00000459561.1_RNA	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	699	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCCAAGGTCCTGACCATCC	0.612																																						uc003lsk.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2095-2097)gtC>gtT		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.							116.0	131.0	126.0					5																	149925000		2203	4300	6503	SO:0001819	synonymous_variant	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149925000C>T	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.2097C>T	5.37:g.149925000C>T						NDST1_uc011dcj.2_Silent_p.V699V	p.V699V	NM_001543	NP_001534	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	2599	+		all_hematologic(541;0.224)	699			Heparan sulfate N-sulfotransferase 1.		Q96E57	Silent	SNP	ENST00000261797.6	37	c.2097C>T	CCDS34277.1																																																																																				0.612	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543	
ANXA6	309	broad.mit.edu	37	5	150512089	150512089	+	Silent	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:150512089G>A	ENST00000354546.5	-	10	911	c.684C>T	c.(682-684)gcC>gcT	p.A228A	ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Silent_p.A196A|ANXA6_ENST00000356496.5_Silent_p.A228A|ANXA6_ENST00000521512.1_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	228					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCGGATGCTGGCTTCAATCG	0.542																																						uc003ltl.2																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(682-684)gcC>gcT		Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.							52.0	53.0	52.0					5																	150512089		1931	4137	6068	SO:0001819	synonymous_variant	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150512089G>A	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.684C>T	5.37:g.150512089G>A						ANXA6_uc011dcp.2_Silent_p.A196A|ANXA6_uc003lto.2_Intron	p.A228A	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	912	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	228					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Silent	SNP	ENST00000354546.5	37	c.684C>T	CCDS47315.1																																																																																				0.542	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155	
DOCK2	1794	broad.mit.edu	37	5	169098173	169098174	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:169098173_169098174delTA	ENST00000256935.8	+	5	396_397	c.316_317delTA	c.(316-318)tatfs	p.Y106fs		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	106					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAACAACTCTATGTGGTGAGA	0.441																																						uc003maf.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(316-318)tatfs		Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.																																				SO:0001589	frameshift_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169098173_169098174delTA	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.316_317delTA	5.37:g.169098173_169098174delTA	ENSP00000256935:p.Tyr106fs					DOCK2_uc011der.2_Non-coding_Transcript	p.Y106fs	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	396_397	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	106					Q2M3I0|Q96AK7	Frame_Shift_Del	DEL	ENST00000256935.8	37	c.316_317delTA	CCDS4371.1																																																																																				0.441	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
PRSS16	10279	broad.mit.edu	37	6	27222902	27222902	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr6:27222902G>T	ENST00000230582.3	+	11	1483	c.1468G>T	c.(1468-1470)Ggg>Tgg	p.G490W	PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Missense_Mutation_p.G233W	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	490					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTCCGCCTAGGGCGCCAGGT	0.507																																					NSCLC(178;1118 2105 17078 23587 44429)	uc003nja.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1468-1470)Ggg>Tgg		Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.							77.0	86.0	83.0					6																	27222902		2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27222902G>T	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1468G>T	6.37:g.27222902G>T	ENSP00000230582:p.Gly490Trp					PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Missense_Mutation_p.G233W|PRSS16_uc003njd.3_Non-coding_Transcript	p.G490W	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN			10	1483	+			490					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.1468G>T	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586576	0.66105	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.14640	2.49;2.49	4.35	4.35	0.52113	.	0.110120	0.64402	D	0.000017	T	0.25232	0.0613	M	0.65975	2.015	0.34165	D	0.669149	D;D	0.76494	0.999;0.998	D;D	0.71870	0.975;0.938	T	0.02457	-1.1156	10	0.87932	D	0	-10.7244	14.8169	0.70041	0.0:0.0:1.0:0.0	.	233;490	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	W	233;490	ENSP00000404349:G233W;ENSP00000230582:G490W	ENSP00000230582:G490W	G	+	1	0	PRSS16	27330881	0.664000	0.27457	0.496000	0.27539	0.925000	0.55904	4.412000	0.59787	2.440000	0.82611	0.552000	0.68991	GGG		0.507	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2		
MSH5	4439	broad.mit.edu	37	6	31721395	31721395	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr6:31721395G>T	ENST00000375755.3	+	12	1289	c.1003G>T	c.(1003-1005)Gtt>Ttt	p.V335F	MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.V352F|MSH5_ENST00000534153.4_Missense_Mutation_p.V352F|MSH5_ENST00000375742.3_Missense_Mutation_p.V352F|MSH5_ENST00000431848.2_Missense_Mutation_p.V34F|MSH5_ENST00000375703.3_Missense_Mutation_p.V335F|MSH5_ENST00000375740.3_Missense_Mutation_p.V352F|MSH5_ENST00000375750.3_Missense_Mutation_p.V335F|MSH5_ENST00000395853.1_5'Flank	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	335					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						CGACTGGCAGGTTCTCTACAA	0.493								Direct reversal of damage;Mismatch excision repair (MMR)																														uc003nwu.2																			0				breast(1)|ovary(2)|skin(2)	5						c.(1003-1005)Gtt>Ttt	Direct reversal of damage;Mismatch excision repair (MMR)	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.							100.0	90.0	94.0					6																	31721395		2203	4300	6503	SO:0001583	missense	4439				chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr6:31721395G>T	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1003G>T	6.37:g.31721395G>T	ENSP00000364908:p.Val335Phe					MSH5_uc003nwx.2_Missense_Mutation_p.V352F|MSH5_uc003nwv.2_Missense_Mutation_p.V335F|MSH5_uc003nww.2_Missense_Mutation_p.V335F|MSH5_uc011dof.1_Missense_Mutation_p.V34F|MSH5_uc003nwy.1_5'Flank	p.V335F	NM_172165	NP_751897	O43196	MSH5_HUMAN			11	1131	+			335					B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	c.1003G>T	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733661	0.30684	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000450148;ENST00000431848	D;D;D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	5.04	1.05	0.20165	DNA mismatch repair protein MutS, core (3);	0.431350	0.23197	N	0.050824	T	0.61776	0.2374	N	0.08118	0	0.31260	N	0.6929879999999999	B;B;B;B	0.11235	0.001;0.003;0.001;0.004	B;B;B;B	0.11329	0.006;0.006;0.005;0.006	T	0.49103	-0.8974	9	0.46703	T	0.11	-15.636	4.271	0.10787	0.2819:0.0:0.5544:0.1637	.	352;335;335;352	O43196-4;O43196;O43196-2;O43196-3	.;MSH5_HUMAN;.;.	F	335;352;335;352;335;352;172;34	ENSP00000364908:V335F;ENSP00000364894:V352F;ENSP00000364903:V335F;ENSP00000431693:V352F;ENSP00000364855:V335F;ENSP00000364892:V352F;ENSP00000394971:V172F;ENSP00000416784:V34F	ENSP00000364855:V335F	V	+	1	0	MSH5	31829374	0.997000	0.39634	0.996000	0.52242	0.992000	0.81027	2.300000	0.43620	0.531000	0.28639	0.462000	0.41574	GTT		0.493	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4		
ANKRD6	22881	broad.mit.edu	37	6	90333750	90333750	+	Missense_Mutation	SNP	C	C	T	rs375712466		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr6:90333750C>T	ENST00000522441.1	+	12	1833	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	ANKRD6_ENST00000339746.4_Missense_Mutation_p.R398W|ANKRD6_ENST00000369408.5_Missense_Mutation_p.R363W|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R398W|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R339W	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	398					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CACATTGTACCGGGGCAAGGA	0.522																																						uc003pni.4																			0				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21						c.(1192-1194)Cgg>Tgg		Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA.							54.0	55.0	55.0					6																	90333750		2028	4177	6205	SO:0001583	missense	22881						protein binding	g.chr6:90333750C>T	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1192C>T	6.37:g.90333750C>T	ENSP00000430985:p.Arg398Trp					ANKRD6_uc003pne.4_Missense_Mutation_p.R398W|ANKRD6_uc003pnf.4_Missense_Mutation_p.R363W|ANKRD6_uc011dzy.2_Missense_Mutation_p.R398W|ANKRD6_uc010kcd.3_Missense_Mutation_p.R339W|LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Intron|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.4_5'UTR	p.R398W	NM_001242809	NP_001229738	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	11	1533	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	398					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	c.1192C>T	CCDS56441.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.127639|4.127639	0.77549|0.77549	.|.	.|.	ENSG00000135299|ENSG00000135299	ENST00000492158|ENST00000369408;ENST00000339746;ENST00000447838;ENST00000522441;ENST00000518150;ENST00000520793	.|T;T;T;T;T	.|0.76316	.|0.54;0.71;0.66;0.71;-1.01	6.02|6.02	5.14|5.14	0.70334|0.70334	.|.	.|0.000000	.|0.53938	.|D	.|0.000058	D|D	0.83326|0.83326	0.5230|0.5230	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.83275	.|0.928;0.991;0.996;0.996	D|D	0.86187|0.86187	0.1610|0.1610	5|10	.|0.87932	.|D	.|0	-29.4865|-29.4865	14.1677|14.1677	0.65488|0.65488	0.2724:0.7276:0.0:0.0|0.2724:0.7276:0.0:0.0	.|.	.|339;398;363;398	.|B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.|.;ANKR6_HUMAN;.;.	L|W	22|363;398;398;398;139;339	.|ENSP00000358416:R363W;ENSP00000345767:R398W;ENSP00000396771:R398W;ENSP00000430985:R398W;ENSP00000429782:R339W	.|ENSP00000345767:R398W	P|R	+|+	2|1	0|2	ANKRD6|ANKRD6	90390471|90390471	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.831000|0.831000	0.47069|0.47069	0.989000|0.989000	0.29629|0.29629	1.510000|1.510000	0.48803|0.48803	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.522	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1		
SLC22A3	6581	broad.mit.edu	37	6	160819102	160819102	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr6:160819102A>G	ENST00000275300.2	+	2	673	c.521A>G	c.(520-522)tAt>tGt	p.Y174C	SLC22A3_ENST00000392145.1_Missense_Mutation_p.Y174C	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	174					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	ACCTTAGGCTATGCAGCAGAC	0.433																																						uc003qti.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(520-522)tAt>tGt		Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.							163.0	148.0	153.0					6																	160819102		2203	4300	6503	SO:0001583	missense	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160819102A>G	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.521A>G	6.37:g.160819102A>G	ENSP00000275300:p.Tyr174Cys					SLC22A3_uc011efx.2_Non-coding_Transcript	p.Y174C	NM_021977	NP_068812	O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	1	548	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	174					Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	c.521A>G	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.492418	0.64074	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.59906	0.23;0.23	5.56	5.56	0.83823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000002	T	0.72120	0.3421	M	0.85462	2.755	0.58432	D	0.999996	D	0.89917	1.0	D	0.79108	0.992	T	0.75190	-0.3405	10	0.42905	T	0.14	.	14.2977	0.66325	1.0:0.0:0.0:0.0	.	174	O75751	S22A3_HUMAN	C	174	ENSP00000275300:Y174C;ENSP00000375989:Y174C	ENSP00000275300:Y174C	Y	+	2	0	SLC22A3	160739092	1.000000	0.71417	0.864000	0.33941	0.616000	0.37450	6.368000	0.73104	2.110000	0.64415	0.528000	0.53228	TAT		0.433	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977	
ABCB1	5243	broad.mit.edu	37	7	87135283	87135283	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr7:87135283G>A	ENST00000265724.3	-	28	3983	c.3566C>T	c.(3565-3567)gCc>gTc	p.A1189V	ABCB1_ENST00000543898.1_Missense_Mutation_p.A1125V|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1189	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TCTAACAAGGGCACGAGCTAT	0.403																																						uc003uiz.2																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(3565-3567)gCc>gTc		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						176.0	161.0	166.0					7																	87135283		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87135283G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3566C>T	7.37:g.87135283G>A	ENSP00000265724:p.Ala1189Val					ABCB1_uc011khc.2_Missense_Mutation_p.A1125V	p.A1189V	NM_000927	NP_000918	P08183	MDR1_HUMAN			27	4059	-	Esophageal squamous(14;0.00164)		1189			ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.3566C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	36	5.776267	0.96922	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.92965	-3.14;-3.14	5.94	5.94	0.96194	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95940	0.8678	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95788	0.8822	10	0.87932	D	0	-20.3932	19.3618	0.94442	0.0:0.0:1.0:0.0	.	1125;1189	B5AK60;P08183	.;MDR1_HUMAN	V	970;1189;1125	ENSP00000265724:A1189V;ENSP00000444095:A1125V	ENSP00000265724:A1189V	A	-	2	0	ABCB1	86973219	1.000000	0.71417	0.975000	0.42487	0.994000	0.84299	9.853000	0.99521	2.820000	0.97059	0.650000	0.86243	GCC		0.403	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
KMT2C	58508	broad.mit.edu	37	7	151970848	151970848	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr7:151970848C>A	ENST00000262189.6	-	7	1172	c.954G>T	c.(952-954)caG>caT	p.Q318H	KMT2C_ENST00000355193.2_Missense_Mutation_p.Q318H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	318					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GACTGAAATCCTGAAAGGTGC	0.423																																						uc003wla.3										N							medulloblastoma		0				NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(952-954)caG>caT		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							261.0	244.0	250.0					7																	151970848		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151970848C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.954G>T	7.37:g.151970848C>A	ENSP00000262189:p.Gln318His						p.Q318H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	6	1173	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	318					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.954G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839726	0.32513	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.70869	-0.52;-0.52	4.87	3.99	0.46301	Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.164580	0.28442	N	0.015327	T	0.73001	0.3531	M	0.82923	2.615	0.80722	D	1	B	0.16166	0.016	B	0.18561	0.022	T	0.71265	-0.4644	10	0.35671	T	0.21	.	15.6338	0.76933	0.0:0.8621:0.1379:0.0	.	318	Q8NEZ4	MLL3_HUMAN	H	318	ENSP00000262189:Q318H;ENSP00000347325:Q318H	ENSP00000262189:Q318H	Q	-	3	2	MLL3	151601781	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.294000	0.51787	1.203000	0.43233	-0.127000	0.14921	CAG		0.423	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
BHLHE22	27319	broad.mit.edu	37	8	65493617	65493618	+	In_Frame_Ins	INS	-	-	GGC	rs544639534	byFrequency	TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr8:65493617_65493618insGGC	ENST00000321870.1	+	1	804_805	c.270_271insGGC	c.(271-273)ggc>GGCggc	p.91_91G>GG	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	91	Gly-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						gcgcgggaagtggcggcggcgg	0.782														385	0.076877	0.1475	0.0634	5008	,	,		7150	0.005		0.1223	False		,,,				2504	0.0184				Colon(113;104 1586 2865 9855 18065)	uc003xvi.3																			0				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(268-273)insGGC		Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA.																																				SO:0001652	inframe_insertion	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65493617_65493618insGGC	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.286_288dupGGC	8.37:g.65493624_65493626dupGGC	ENSP00000318799:p.Gly97dup					LOC401463_uc003xvh.3_Intron	p.97_98insG	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN			0	823_824	+			97			Gly-rich.			In_Frame_Ins	INS	ENST00000321870.1	37	c.270_271insGGC	CCDS6179.1																																																																																				0.782	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414	
SAMD12	401474	broad.mit.edu	37	8	119593041	119593041	+	Silent	SNP	A	A	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr8:119593041A>T	ENST00000314727.4	-	2	241	c.105T>A	c.(103-105)tcT>tcA	p.S35S	SAMD12_ENST00000409003.4_Silent_p.S35S	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	35										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TAATGGATTGAGATTCCACAC	0.453																																						uc003yom.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9						c.(103-105)tcT>tcA		Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.							72.0	70.0	71.0					8																	119593041		2203	4299	6502	SO:0001819	synonymous_variant	401474							g.chr8:119593041A>T	AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"""Sterile alpha motif (SAM) domain containing"""	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.105T>A	8.37:g.119593041A>T						SAMD12_uc010mda.1_Silent_p.S35S|SAMD12_uc010mdb.1_Non-coding_Transcript	p.S35S	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	STAD - Stomach adenocarcinoma(47;0.00391)		1	234	-	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		35					Q0P502	Silent	SNP	ENST00000314727.4	37	c.105T>A	CCDS6325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.181|2.181	-0.387650|-0.387650	0.04932|0.04932	.|.	.|.	ENSG00000177570|ENSG00000177570	ENST00000526765|ENST00000453675	.|.	.|.	.|.	5.32|5.32	2.91|2.91	0.33838|0.33838	.|.	.|0.310296	.|0.31554	.|N	.|0.007445	T|T	0.47002|0.47002	0.1422|0.1422	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.29640|0.29640	-1.0005|-1.0005	4|5	.|.	.|.	.|.	-3.2544|-3.2544	4.1615|4.1615	0.10285|0.10285	0.6116:0.1724:0.216:0.0|0.6116:0.1724:0.216:0.0	.|.	.|.	.|.	.|.	H|T	50|32	.|.	.|.	L|S	-|-	2|1	0|0	SAMD12|SAMD12	119662222|119662222	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.085000|0.085000	0.17905|0.17905	0.418000|0.418000	0.21230|0.21230	0.337000|0.337000	0.23665|0.23665	0.460000|0.460000	0.39030|0.39030	CTC|TCA		0.453	SAMD12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132989.3	NM_207506	
TBC1D2	55357	broad.mit.edu	37	9	100971301	100971301	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr9:100971301C>T	ENST00000375064.1	-	9	1837	c.1799G>A	c.(1798-1800)cGg>cAg	p.R600Q	TBC1D2_ENST00000375066.5_Missense_Mutation_p.R600Q|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R140Q|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R382Q	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	600					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CCTCAGCGGCCGATCCACAGC	0.652																																						uc011lvb.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1798-1800)cGg>cAg		Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.							97.0	103.0	101.0					9																	100971301		2202	4299	6501	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100971301C>T	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1799G>A	9.37:g.100971301C>T	ENSP00000364205:p.Arg600Gln					TBC1D2_uc004ayp.3_Missense_Mutation_p.R140Q|TBC1D2_uc004ayq.3_Missense_Mutation_p.R600Q|TBC1D2_uc004ayr.3_Missense_Mutation_p.R382Q	p.R600Q	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	8	1979	-		Myeloproliferative disorder(762;0.0255)	600					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.1799G>A		.	.	.	.	.	.	.	.	.	.	C	14.81	2.645121	0.47258	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112;ENST00000375063	T;T;T;T	0.08102	3.42;3.13;3.53;3.15	5.71	4.7	0.59300	.	0.347806	0.31010	N	0.008427	T	0.05823	0.0152	L	0.51422	1.61	0.37797	D	0.927577	B;B	0.32203	0.246;0.36	B;B	0.17722	0.008;0.019	T	0.32481	-0.9905	10	0.14252	T	0.57	.	3.8674	0.09022	0.0:0.529:0.0:0.471	.	600;600	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	Q	600;600;382;140	ENSP00000364205:R600Q;ENSP00000364207:R600Q;ENSP00000341567:R382Q;ENSP00000364203:R140Q	ENSP00000341567:R382Q	R	-	2	0	TBC1D2	100011122	0.842000	0.29525	0.998000	0.56505	0.948000	0.59901	0.437000	0.21543	1.358000	0.45922	0.561000	0.74099	CGG		0.652	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421	
ITIH6	347365	broad.mit.edu	37	X	54785074	54785074	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chrX:54785074C>T	ENST00000218436.6	-	8	1462	c.1433G>A	c.(1432-1434)cGt>cAt	p.R478H		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	478					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GTAGTTCAGACGCACATCTGC	0.597																																						uc004dtj.2																			0											c.(1432-1434)cGt>cAt		Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.							45.0	40.0	42.0					X																	54785074		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54785074C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1433G>A	X.37:g.54785074C>T	ENSP00000218436:p.Arg478His						p.R478H	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			7	1463	-			478					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.1433G>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	T	2.280	-0.364922	0.05103	.	.	ENSG00000102313	ENST00000218436	T	0.11604	2.76	3.66	-6.82	0.01698	.	0.849036	0.10374	N	0.682431	T	0.06416	0.0165	N	0.24115	0.695	0.19575	N	0.999964	B	0.02656	0.0	B	0.01281	0.0	T	0.36744	-0.9735	10	0.18710	T	0.47	.	14.0856	0.64954	0.0:0.2673:0.0:0.7327	.	478	Q6UXX5	ITH5L_HUMAN	H	478	ENSP00000218436:R478H	ENSP00000218436:R478H	R	-	2	0	ITIH5L	54801799	0.000000	0.05858	0.283000	0.24790	0.354000	0.29330	-1.031000	0.03578	-2.087000	0.00862	-2.471000	0.00202	CGT		0.597	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510	
TBC1D8B	54885	broad.mit.edu	37	X	106109162	106109162	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chrX:106109162C>T	ENST00000357242.5	+	16	2735	c.2561C>T	c.(2560-2562)gCt>gTt	p.A854V	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.A848V	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	854							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGTCCCTGGGCTCATTCTGCA	0.408																																						uc004emo.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2560-2562)gCt>gTt		Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.							153.0	134.0	140.0					X																	106109162		2203	4300	6503	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106109162C>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2561C>T	X.37:g.106109162C>T	ENSP00000349781:p.Ala854Val					MORC4_uc004emp.4_Intron	p.A854V	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN			15	2726	+			854					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2561C>T	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914724	0.72983	.	.	ENSG00000133138	ENST00000357242;ENST00000276175;ENST00000394972	T;T	0.29655	1.56;1.56	5.71	5.71	0.89125	EF-hand-like domain (1);	0.312978	0.32593	N	0.005891	T	0.34193	0.0889	M	0.69358	2.11	0.45648	D	0.998576	P	0.36222	0.544	B	0.30495	0.116	T	0.22591	-1.0212	10	0.59425	D	0.04	-1.6099	17.2863	0.87142	0.0:1.0:0.0:0.0	.	854	Q0IIM8	TBC8B_HUMAN	V	854;848;116	ENSP00000349781:A854V;ENSP00000276175:A848V	ENSP00000276175:A848V	A	+	2	0	TBC1D8B	105995818	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.487000	0.81328	2.400000	0.81607	0.594000	0.82650	GCT		0.408	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752	
WASH6P	653440	broad.mit.edu	37	X	155252811	155252811	+	RNA	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chrX:155252811C>T	ENST00000461007.1	+	0	1819				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GCATTGCCCCCTCTGCCCCTG	0.637																																						uc004fnw.1																			0											c.(853-855)ccC>ccT		Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.																																						653440							g.chrX:155252811C>T	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155252811C>T						WASH6P_uc022cip.1_Silent_p.P71P	p.P285P	NM_182905	NP_878908					5	1514	+								A6NGF1|Q8N305	Silent	SNP	ENST00000461007.1	37	c.855C>T																																																																																					0.637	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380	
PCDH11Y	83259	broad.mit.edu	37	Y	4925190	4925190	+	Missense_Mutation	SNP	T	T	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chrY:4925190T>A	ENST00000333703.4	+	4	806	c.293T>A	c.(292-294)aTt>aAt	p.I98N	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.I109N|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.I109N	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	109	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTGATTCGAATTGAAGAGGAT	0.443																																						uc004fqo.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(325-327)aTt>aAt		Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4925190T>A	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.293T>A	Y.37:g.4925190T>A	ENSP00000330552:p.Ile98Asn					PCDH11Y_uc010nwg.1_Missense_Mutation_p.I98N|PCDH11Y_uc004fql.1_Missense_Mutation_p.I98N|PCDH11Y_uc004fqm.1_Missense_Mutation_p.I98N|PCDH11Y_uc004fqn.1_Missense_Mutation_p.I109N	p.I109N	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			0	1060	+			109			Cadherin 1.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.326T>A	CCDS14776.1																																																																																				0.443	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973	
