#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
LCK	3932	broad.mit.edu	37	1	32740011	32740011	+	Silent	SNP	A	A	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:32740011A>T	ENST00000336890.5	+	2	219	c.81A>T	c.(79-81)atA>atT	p.I27I	LCK_ENST00000333070.4_Silent_p.I27I|LCK_ENST00000373564.3_Silent_p.I27I	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	27	Interactions with CD4 and CD8. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	ATTATCCCATAGTCCCACTGG	0.547			T	TRB@	T-ALL																																	uc001bux.3				Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(79-81)atA>atT		Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	Dasatinib(DB01254)						101.0	88.0	92.0					1																	32740011		2203	4300	6503	SO:0001819	synonymous_variant	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32740011A>T	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.81A>T	1.37:g.32740011A>T						LCK_uc001buy.3_Silent_p.I27I|LCK_uc001buz.3_Silent_p.I27I|LCK_uc010ohc.1_Silent_p.I71I|LCK_uc001bva.3_Silent_p.I27I	p.I27I	NM_005356	NP_005347	P06239	LCK_HUMAN			1	219	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	27			Interactions with CD4 and CD8 (By similarity).		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Silent	SNP	ENST00000336890.5	37	c.81A>T	CCDS359.1																																																																																				0.547	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356	
AKR1A1	10327	broad.mit.edu	37	1	46027470	46027470	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:46027470G>A	ENST00000372070.3	+	3	751	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	AKR1A1_ENST00000471651.1_Missense_Mutation_p.A2T|AKR1A1_ENST00000351829.4_Missense_Mutation_p.A2T	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	2					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	GGGGGCAATGGCGGCTTCCTG	0.522																																						uc021omx.1																			0				lung(3)|prostate(1)|urinary_tract(1)	5						c.(4-6)Gcg>Acg		Homo sapiens aldo-keto reductase family 1, member A1 (aldehyde reductase) (AKR1A1), transcript variant 3, mRNA.							123.0	121.0	122.0					1																	46027470		2203	4300	6503	SO:0001583	missense	10327				glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr1:46027470G>A	J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"""Aldo-keto reductases"""	380	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 3"""	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.4G>A	1.37:g.46027470G>A	ENSP00000361140:p.Ala2Thr					AKR1A1_uc009vxw.3_Missense_Mutation_p.A2T|AKR1A1_uc021omy.1_Missense_Mutation_p.A2T|AKR1A1_uc001cod.3_Missense_Mutation_p.A2T|AKR1A1_uc001coe.3_Missense_Mutation_p.A2T	p.A2T	NM_001202414	NP_001189343	P14550	AK1A1_HUMAN			3	422	+	Acute lymphoblastic leukemia(166;0.155)		2					A8KAL8|D3DQ04|Q6IAZ4	Missense_Mutation	SNP	ENST00000372070.3	37	c.4G>A	CCDS523.1	.	.	.	.	.	.	.	.	.	.	G	7.374	0.627454	0.14257	.	.	ENSG00000117448	ENST00000372070;ENST00000434299;ENST00000351829	T;T;T	0.35789	1.29;1.49;1.29	5.72	-1.9	0.07665	NADP-dependent oxidoreductase domain (1);	0.761307	0.13409	N	0.390017	T	0.13200	0.0320	N	0.03608	-0.345	0.21579	N	0.99963	B	0.02656	0.0	B	0.01281	0.0	T	0.17899	-1.0354	10	0.34782	T	0.22	.	5.6336	0.17524	0.4538:0.0:0.4223:0.1238	.	2	P14550	AK1A1_HUMAN	T	2	ENSP00000361140:A2T;ENSP00000398414:A2T;ENSP00000312606:A2T	ENSP00000312606:A2T	A	+	1	0	AKR1A1	45800057	0.394000	0.25246	0.337000	0.25536	0.150000	0.21749	0.368000	0.20399	-0.329000	0.08527	0.644000	0.83932	GCG		0.522	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020851.1	NM_006066	
CCDC17	149483	broad.mit.edu	37	1	46086575	46086575	+	Splice_Site	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:46086575C>T	ENST00000528266.1	-	11	1746	c.1599G>A	c.(1597-1599)caG>caA	p.Q533Q	CCDC17_ENST00000464739.1_5'Flank|CCDC17_ENST00000421127.2_Splice_Site_p.Q524Q|CCDC17_ENST00000343901.2_Splice_Site_p.Q501Q|CCDC17_ENST00000445048.2_Intron			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	533										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					CCACACTCACCTGAGGAATCC	0.592																																						uc010olt.2																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.e11+1		Homo sapiens coiled-coil domain containing 17 (CCDC17), transcript variant 1, mRNA.							54.0	46.0	49.0					1																	46086575		2203	4300	6503	SO:0001630	splice_region_variant	149483							g.chr1:46086575C>T		CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1599+1G>A	1.37:g.46086575C>T						CCDC17_uc010ols.2_Splice_Site_p.Q524_splice|CCDC17_uc001com.4_Splice_Site_p.Q354_splice|CCDC17_uc001con.4_Splice_Site|CCDC17_uc009vxz.3_Intron	p.Q533_splice	NM_001114938	NP_001108410	Q96LX7	CCD17_HUMAN			11	1749	-	Acute lymphoblastic leukemia(166;0.155)		533					A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Silent	SNP	ENST00000528266.1	37	c.1599_splice	CCDS44131.2																																																																																				0.592	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386833.1	NM_152500	Silent
CDKN2C	1031	broad.mit.edu	37	1	51436083	51436083	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:51436083delA	ENST00000262662.1	+	3	2077	c.43delA	c.(43-45)aggfs	p.R15fs	CDKN2C_ENST00000371761.3_Frame_Shift_Del_p.R15fs|CDKN2C_ENST00000396148.1_Frame_Shift_Del_p.R15fs			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	15					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.R15fs*4(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CGCAGCTGCCAGGGGGGACCT	0.468			D		"""glioma, MM"""																																Melanoma(47;50 1155 4767 22863 47597)	uc001csf.3				Rec	yes		1	1p32	1031	D	"""cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"""			"""O, L"""			"""glioma, MM"""		12	Whole gene deletion(11)|Deletion - Frameshift(1)	p.0?(11)|p.R15fs*4(2)	central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(4)|thyroid(1)	central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23						c.(43-45)aggfs		Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA.							65.0	66.0	65.0					1																	51436083		2203	4300	6503	SO:0001589	frameshift_variant	1031				cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr1:51436083delA	BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"""Ankyrin repeat domain containing"""	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.43delA	1.37:g.51436083delA	ENSP00000262662:p.Arg15fs					CDKN2C_uc001csg.3_Frame_Shift_Del_p.R15fs	p.R15fs	NM_001262	NP_523240	P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	1	2018	+			15					Q8TB83	Frame_Shift_Del	DEL	ENST00000262662.1	37	c.43delA	CCDS555.1																																																																																				0.468	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262	
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						uc021oul.1																			4	Substitution - coding silent(4)	p.K3445K(8)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	p.K3445K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	82	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
FCRL4	83417	broad.mit.edu	37	1	157556156	157556156	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:157556156C>T	ENST00000271532.1	-	6	1072	c.937G>A	c.(937-939)Gct>Act	p.A313T	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	313	Ig-like C2-type 4.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GTGCCTTCAGCCACGGAGCAG	0.597																																						uc001fqw.3																			0		p.V312M(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.(937-939)Gct>Act		Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.							83.0	75.0	77.0					1																	157556156		2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157556156C>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.937G>A	1.37:g.157556156C>T	ENSP00000271532:p.Ala313Thr					FCRL4_uc010phy.2_Non-coding_Transcript	p.A313T	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			5	1073	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	313			Ig-like C2-type 4.		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.937G>A	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529837	0.27387	.	.	ENSG00000163518	ENST00000271532	T	0.11821	2.74	4.12	3.2	0.36748	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.614199	0.13465	N	0.385837	T	0.08044	0.0201	L	0.58669	1.825	0.09310	N	1	P	0.38148	0.62	P	0.46718	0.525	T	0.31724	-0.9933	10	0.13853	T	0.58	.	9.3546	0.38159	0.2134:0.7866:0.0:0.0	.	313	Q96PJ5	FCRL4_HUMAN	T	313	ENSP00000271532:A313T	ENSP00000271532:A313T	A	-	1	0	FCRL4	155822780	0.064000	0.20934	0.011000	0.14972	0.065000	0.16274	0.176000	0.16782	1.036000	0.39998	0.467000	0.42956	GCT		0.597	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282	
FCRL2	79368	broad.mit.edu	37	1	157718679	157718679	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:157718679G>T	ENST00000361516.3	-	9	1427	c.1379C>A	c.(1378-1380)cCa>cAa	p.P460Q	FCRL2_ENST00000368181.4_Missense_Mutation_p.P176Q|FCRL2_ENST00000392274.3_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	460					cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GACATACACTGGCTGCAGCTC	0.502																																						uc001fre.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(1378-1380)cCa>cAa		Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.							83.0	82.0	82.0					1																	157718679		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157718679G>T	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.1379C>A	1.37:g.157718679G>T	ENSP00000355157:p.Pro460Gln					FCRL2_uc001frd.2_Missense_Mutation_p.P207Q|FCRL2_uc010phz.1_Intron|FCRL2_uc009wsp.2_Missense_Mutation_p.P176Q	p.P460Q	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		8	1438	-	all_hematologic(112;0.0378)		460					A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.1379C>A	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.772914	0.69992	.	.	ENSG00000132704	ENST00000292389;ENST00000361516;ENST00000368181	T;T	0.22336	1.96;3.18	4.03	-0.532	0.11890	.	.	.	.	.	T	0.19565	0.0470	L	0.58669	1.825	0.09310	N	1	D;D;B	0.89917	0.99;1.0;0.22	P;D;B	0.83275	0.858;0.996;0.042	T	0.05801	-1.0863	9	0.87932	D	0	.	2.9179	0.05759	0.2223:0.0:0.3994:0.3783	.	176;460;207	Q96LA5-5;Q96LA5;Q96LA5-2	.;FCRL2_HUMAN;.	Q	176;460;176	ENSP00000355157:P460Q;ENSP00000357163:P176Q	ENSP00000292389:P176Q	P	-	2	0	FCRL2	155985303	0.001000	0.12720	0.508000	0.27688	0.914000	0.54420	-0.126000	0.10563	0.097000	0.17492	0.655000	0.94253	CCA		0.502	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764	
CEP350	9857	broad.mit.edu	37	1	179965731	179965731	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:179965731G>A	ENST00000367607.3	+	6	857	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	147					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAGCCATCTGGAATCAAAGCA	0.378																																						uc001gnt.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(439-441)Gaa>Aaa		Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.							41.0	39.0	39.0					1																	179965731		2202	4300	6502	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179965731G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.439G>A	1.37:g.179965731G>A	ENSP00000356579:p.Glu147Lys					CEP350_uc001gnr.1_Missense_Mutation_p.E121K|CEP350_uc009wxl.2_Missense_Mutation_p.E146K|CEP350_uc001gnu.3_5'UTR	p.E147K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			5	822	+			147					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.439G>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423465	0.62733	.	.	ENSG00000135837	ENST00000367607;ENST00000491495	T;T	0.57595	0.39;0.99	5.1	5.1	0.69264	.	0.140761	0.31897	N	0.006888	T	0.51787	0.1695	L	0.27053	0.805	0.54753	D	0.999983	B;B;P	0.50272	0.361;0.361;0.933	B;B;P	0.51101	0.039;0.086;0.659	T	0.45891	-0.9230	9	.	.	.	.	18.4523	0.90709	0.0:0.0:1.0:0.0	.	147;147;121	E7EU22;Q5VT06;E9PIK0	.;CE350_HUMAN;.	K	147;121	ENSP00000356579:E147K;ENSP00000435808:E121K	.	E	+	1	0	CEP350	178232354	1.000000	0.71417	0.998000	0.56505	0.629000	0.37895	7.113000	0.77095	2.526000	0.85167	0.579000	0.79373	GAA		0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
RYR2	6262	broad.mit.edu	37	1	237802446	237802446	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:237802446G>A	ENST00000366574.2	+	46	7377	c.7060G>A	c.(7060-7062)Gcc>Acc	p.A2354T	RYR2_ENST00000360064.6_Missense_Mutation_p.A2352T|RYR2_ENST00000542537.1_Missense_Mutation_p.A2338T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2354	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATCAAAATCGCCGAGGATCC	0.493																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(7060-7062)Gcc>Acc		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							99.0	101.0	100.0					1																	237802446		1926	4120	6046	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237802446G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7060G>A	1.37:g.237802446G>A	ENSP00000355533:p.Ala2354Thr						p.A2354T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		45	7180	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2354			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7060G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968057	0.53507	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97994	-4.65;-4.65;-4.65	5.05	5.05	0.67936	.	0.100087	0.39475	N	0.001344	D	0.91821	0.7412	N	0.03608	-0.345	0.80722	D	1	B	0.24258	0.1	B	0.21151	0.033	D	0.89376	0.3678	10	0.56958	D	0.05	.	12.0573	0.53542	0.0:0.0:0.7089:0.2911	.	2354	Q92736	RYR2_HUMAN	T	2354;2352;2338	ENSP00000355533:A2354T;ENSP00000353174:A2352T;ENSP00000443798:A2338T	ENSP00000353174:A2352T	A	+	1	0	RYR2	235869069	1.000000	0.71417	0.998000	0.56505	0.614000	0.37383	3.204000	0.51082	2.498000	0.84270	0.561000	0.74099	GCC		0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
PAOX	196743	broad.mit.edu	37	10	135203245	135203245	+	Silent	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr10:135203245C>T	ENST00000278060.5	+	6	1469	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Intron|RP11-108K14.8_ENST00000468317.2_5'Flank|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368535.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	600					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ACGGCGCCGGCGCCCAGGTAT	0.741																																						uc001lmv.3																			0		p.G462V(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23						c.(1384-1386)ggC>ggT		Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.							13.0	15.0	14.0					10																	135203245		2185	4270	6455	SO:0001819	synonymous_variant	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135203245C>T	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.1386C>T	10.37:g.135203245C>T						PAOX_uc001lmx.3_Intron|PAOX_uc001lmy.3_Intron|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Non-coding_Transcript|PAOX_uc001lnb.3_Non-coding_Transcript|PAOX_uc001lnc.3_Non-coding_Transcript|PAOX_uc001lmw.3_Intron	p.G462G	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	5	1466	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	600					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Silent	SNP	ENST00000278060.5	37	c.1386C>T	CCDS7683.1																																																																																				0.741	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911	
POU2AF1	5450	broad.mit.edu	37	11	111225126	111225126	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr11:111225126A>G	ENST00000393067.3	-	5	1145	c.631T>C	c.(631-633)Tct>Cct	p.S211P		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	211					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		TCTGGGATAGAGATGGGGAGC	0.622			T	BCL6	NHL																																	uc001plg.4				Dom	yes		11	11q23.1	5450	T	"""POU domain, class 2, associating factor 1 (OBF1)"""			L	BCL6		NHL		0				breast(1)|kidney(2)|lung(2)	5						c.(631-633)Tct>Cct		Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.							55.0	58.0	57.0					11																	111225126		2201	4297	6498	SO:0001583	missense	5450				humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr11:111225126A>G		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"""POU domain class 2, associating factor 1"""			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.631T>C	11.37:g.111225126A>G	ENSP00000376786:p.Ser211Pro						p.S211P	NM_006235	NP_006226	Q16633	OBF1_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)	4	886	-		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)	211					B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	37	c.631T>C	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.167841	0.78339	.	.	ENSG00000110777	ENST00000393067	T	0.32023	1.47	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	L	0.41710	1.295	0.44880	D	0.997894	D	0.89917	1.0	D	0.91635	0.999	T	0.24584	-1.0156	10	0.33141	T	0.24	-3.9004	14.4288	0.67236	1.0:0.0:0.0:0.0	.	211	Q16633	OBF1_HUMAN	P	211	ENSP00000376786:S211P	ENSP00000376786:S211P	S	-	1	0	POU2AF1	110730336	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	4.228000	0.58619	2.067000	0.61834	0.460000	0.39030	TCT		0.622	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235	
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						uc001ppi.4																			5	Substitution - coding silent(5)	p.T343T(10)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_uc001ppf.4_Intron|CADM1_uc001ppk.4_Intron|CADM1_uc001ppj.4_Intron|CADM1_uc001pph.4_Silent_p.T95T	p.T343T	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	7	1158	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333	
HYOU1	10525	broad.mit.edu	37	11	118919049	118919049	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr11:118919049delA	ENST00000404233.3	-	20	2411	c.2287delT	c.(2287-2289)tccfs	p.S763fs	RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000529972.1_Frame_Shift_Del_p.S701fs|HYOU1_ENST00000525859.1_Frame_Shift_Del_p.S701fs	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	763					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TCCTCTGTGGACACTTCCTGG	0.617																																						uc001puu.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33						c.(2287-2289)tccfs		Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA.							94.0	93.0	93.0					11																	118919049		2200	4295	6495	SO:0001589	frameshift_variant	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118919049delA	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2287delT	11.37:g.118919049delA	ENSP00000384144:p.Ser763fs					HYOU1_uc001put.2_Frame_Shift_Del_p.S728fs|HYOU1_uc010ryu.1_Frame_Shift_Del_p.S721fs|HYOU1_uc010ryv.1_Frame_Shift_Del_p.S652fs|HYOU1_uc001pux.3_Frame_Shift_Del_p.S763fs|HYOU1_uc010ryw.2_Non-coding_Transcript	p.S763fs	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	19	2480	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	763					A8C1Z0|B7Z909|Q2I204|Q53H25	Frame_Shift_Del	DEL	ENST00000404233.3	37	c.2287delT	CCDS8408.1																																																																																				0.617	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389	
CHEK1	1111	broad.mit.edu	37	11	125505406	125505406	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr11:125505406A>T	ENST00000534070.1	+	7	951	c.696A>T	c.(694-696)aaA>aaT	p.K232N	CHEK1_ENST00000427383.2_Missense_Mutation_p.K248N|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000544373.1_Missense_Mutation_p.K232N|CHEK1_ENST00000524737.1_Missense_Mutation_p.K232N|CHEK1_ENST00000428830.2_Missense_Mutation_p.K232N|CHEK1_ENST00000438015.1_Missense_Mutation_p.K232N|CHEK1_ENST00000278916.3_Missense_Mutation_p.K232N	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	232	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		ACCCTTGGAAAAAAATCGATT	0.373								Other conserved DNA damage response genes																														uc009zbo.3																			0				central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26						c.(694-696)aaA>aaT	Other conserved DNA damage response genes	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.							86.0	93.0	91.0					11																	125505406		2201	4299	6500	SO:0001583	missense	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125505406A>T	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.696A>T	11.37:g.125505406A>T	ENSP00000435371:p.Lys232Asn					CHEK1_uc010sbi.2_Missense_Mutation_p.K232N|CHEK1_uc010sbh.2_Missense_Mutation_p.K248N|CHEK1_uc001qcf.4_Missense_Mutation_p.K232N|CHEK1_uc009zbp.3_Missense_Mutation_p.K232N|CHEK1_uc001qcg.4_Missense_Mutation_p.K232N	p.K232N	NM_001114122	NP_001107594	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	6	1593	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	232			Protein kinase.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	c.696A>T	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.253467	0.22965	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000534070;ENST00000524737;ENST00000532669;ENST00000278916	T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	4.84	3.69	0.42338	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052045	0.85682	D	0.000000	T	0.43919	0.1269	N	0.12663	0.25	0.80722	D	1	B;B;B;B	0.24368	0.004;0.102;0.022;0.022	B;B;B;B	0.22152	0.012;0.038;0.036;0.036	T	0.37709	-0.9694	10	0.35671	T	0.21	-14.6439	7.5854	0.27989	0.8249:0.0:0.1751:0.0	.	232;248;232;232	F5H7S4;E7EPP6;B5BTY6;O14757	.;.;.;CHK1_HUMAN	N	232;248;232;232;232;232;153;232	ENSP00000388648:K232N;ENSP00000391090:K248N;ENSP00000412504:K232N;ENSP00000442317:K232N;ENSP00000435371:K232N;ENSP00000432890:K232N;ENSP00000434646:K153N;ENSP00000278916:K232N	ENSP00000278916:K232N	K	+	3	2	CHEK1	125010616	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.277000	0.51654	1.945000	0.56424	0.519000	0.50382	AAA		0.373	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274	
ETNK1	55500	broad.mit.edu	37	12	22778163	22778163	+	Silent	SNP	C	C	G			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr12:22778163C>G	ENST00000266517.4	+	1	155	c.66C>G	c.(64-66)ctC>ctG	p.L22L	ETNK1_ENST00000335148.3_Silent_p.L22L|RP11-268P4.4_ENST00000542076.1_RNA	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	22					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGGCCGGGCTCAGTTCAGCTG	0.726																																					Esophageal Squamous(42;87 913 3224 6226 43339)	uc001rft.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(64-66)ctC>ctG		Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 1, mRNA.							12.0	16.0	15.0					12																	22778163		2190	4282	6472	SO:0001819	synonymous_variant	55500				phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	g.chr12:22778163C>G	BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.66C>G	12.37:g.22778163C>G						ETNK1_uc009ziz.3_Silent_p.L22L|ETNK1_uc001rfs.3_Silent_p.L22L	p.L22L	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN			0	88	+			22					G5E969	Silent	SNP	ENST00000266517.4	37	c.66C>G	CCDS8698.1	.	.	.	.	.	.	.	.	.	.	C	8.653	0.898803	0.17686	.	.	ENSG00000139163	ENST00000538218	.	.	.	4.62	2.75	0.32379	.	.	.	.	.	.	.	.	.	.	.	0.19575	N	0.999962	.	.	.	.	.	.	.	.	.	.	.	.	.	1.4009	7.2206	0.25985	0.0:0.7928:0.0:0.2072	.	.	.	.	X	13	.	.	S	+	2	0	ETNK1	22669430	0.001000	0.12720	0.004000	0.12327	0.173000	0.22820	0.617000	0.24359	1.162000	0.42619	0.558000	0.71614	TCA		0.726	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638	
TMTC1	83857	broad.mit.edu	37	12	29757135	29757135	+	Missense_Mutation	SNP	G	G	A	rs144467040	byFrequency	TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr12:29757135G>A	ENST00000539277.1	-	7	1284	c.1226C>T	c.(1225-1227)gCg>gTg	p.A409V	TMTC1_ENST00000381224.2_Missense_Mutation_p.A363V|TMTC1_ENST00000551659.1_Missense_Mutation_p.A471V|TMTC1_ENST00000552618.1_Missense_Mutation_p.A471V|TMTC1_ENST00000256062.5_Missense_Mutation_p.A301V|TMTC1_ENST00000319685.8_5'UTR	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	409						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GACTCTCTCCGCCACCACAAA	0.507																																						uc021qwi.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1225-1227)gCg>gTg		Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	116.0	92.0	100.0		1226,902	4.8	1.0	12	dbSNP_134	100	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	TMTC1	NM_001193451.1,NM_175861.3	64,64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	409/883,301/775	29757135	2,13004	2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29757135G>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1226C>T	12.37:g.29757135G>A	ENSP00000442046:p.Ala409Val					TMTC1_uc001riz.3_Missense_Mutation_p.A58V|TMTC1_uc001rja.3_Missense_Mutation_p.A145V|TMTC1_uc001rjb.3_Missense_Mutation_p.A301V|TMTC1_uc001rjc.1_Missense_Mutation_p.A363V	p.A409V	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN			6	1285	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		409					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1226C>T	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002475	0.93227	0.0	2.33E-4	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224;ENST00000550354	T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.85239	0.5651	M	0.91459	3.21	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;0.999	P;D;P	0.77557	0.826;0.99;0.903	D	0.88725	0.3232	9	.	.	.	-14.6352	16.74	0.85456	0.0:0.0:1.0:0.0	.	363;409;471	Q8IUR5-3;Q8IUR5;F8VTQ9	.;TMTC1_HUMAN;.	V	172;301;471;471;409;363;8	ENSP00000256062:A301V;ENSP00000448112:A471V;ENSP00000449043:A471V;ENSP00000442046:A409V;ENSP00000370622:A363V;ENSP00000449054:A8V	.	A	-	2	0	TMTC1	29648402	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.083000	0.94067	2.346000	0.79739	0.655000	0.94253	GCG		0.507	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920	
MAPK1IP1L	93487	broad.mit.edu	37	14	55529424	55529424	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr14:55529424G>T	ENST00000395468.4	+	3	284	c.107G>T	c.(106-108)gGc>gTc	p.G36V	MAPK1IP1L_ENST00000554364.1_3'UTR	NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	36	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						GGCTGGCCAGGCTCCAACCCT	0.537																																						uc001xbq.1																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(106-108)gGc>gTc		Homo sapiens mitogen-activated protein kinase 1 interacting protein 1-like (MAPK1IP1L), mRNA.							62.0	60.0	61.0					14																	55529424		2203	4300	6503	SO:0001583	missense	93487							g.chr14:55529424G>T	AK025580	CCDS32085.1	14q22.1	2008-01-30	2008-01-30	2008-01-16		ENSG00000168175			19840	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 32"", ""mitogen activated protein kinase 1 interacting protein 1-like"""	C14orf32		12011110	Standard	NM_144578		Approved		uc001xbq.1	Q8NDC0		ENST00000395468.4:c.107G>T	14.37:g.55529424G>T	ENSP00000378851:p.Gly36Val						p.G36V	NM_144578	NP_653179	Q8NDC0	MISSL_HUMAN			2	271	+			36			Pro-rich.		B2RDD8|Q96BG5	Missense_Mutation	SNP	ENST00000395468.4	37	c.107G>T	CCDS32085.1	.	.	.	.	.	.	.	.	.	.	.	7.701	0.693002	0.15039	.	.	ENSG00000168175	ENST00000395468	.	.	.	5.22	4.31	0.51392	.	0.568289	0.17021	N	0.190133	T	0.38054	0.1026	N	0.19112	0.55	0.18873	N	0.999982	B	0.14012	0.009	B	0.31101	0.124	T	0.37197	-0.9716	9	0.42905	T	0.14	1.1931	13.8667	0.63592	0.0:0.3113:0.6886:0.0	.	36	Q8NDC0	MISSL_HUMAN	V	36	.	ENSP00000378851:G36V	G	+	2	0	MAPK1IP1L	54599177	0.045000	0.20229	0.005000	0.12908	0.341000	0.28922	2.308000	0.43690	1.389000	0.46526	0.585000	0.79938	GGC		0.537	MAPK1IP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411302.2	NM_144578	
ZNF174	7727	broad.mit.edu	37	16	3458844	3458844	+	Silent	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:3458844G>A	ENST00000268655.4	+	3	1734	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q	ZNF174_ENST00000571936.1_Silent_p.Q383Q	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	383					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						AGCCATACCAGTGTGGCCAGT	0.542																																						uc002cvc.3																			0				endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						c.(1147-1149)caG>caA		Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.							52.0	58.0	56.0					16																	3458844		2197	4300	6497	SO:0001819	synonymous_variant	7727				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:3458844G>A	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"""-"", ""Zinc fingers, C2H2-type"""	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.1149G>A	16.37:g.3458844G>A							p.Q383Q	NM_003450	NP_003441	Q15697	ZN174_HUMAN			2	1964	+			383					Q53Y68|Q9BQ34	Silent	SNP	ENST00000268655.4	37	c.1149G>A	CCDS10504.1																																																																																				0.542	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450	
FUS	2521	broad.mit.edu	37	16	31202308	31202308	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:31202308G>A	ENST00000254108.7	+	14	1523	c.1418G>A	c.(1417-1419)cGt>cAt	p.R473H	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Missense_Mutation_p.R474H|FUS_ENST00000380244.3_Missense_Mutation_p.R472H	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	473	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GATGATCGTCGTGGTGGCAGA	0.602			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	uc002ebf.3				Dom	yes		16	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""			"""M, L"""	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""		"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	0				breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22						c.(1417-1419)cGt>cAt		Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.							61.0	72.0	68.0					16																	31202308		2196	4300	6496	SO:0001583	missense	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31202308G>A	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1418G>A	16.37:g.31202308G>A	ENSP00000254108:p.Arg473His					FUS_uc002ebe.2_Missense_Mutation_p.R469H|FUS_uc002ebg.3_Missense_Mutation_p.R268H|FUS_uc002ebh.3_Missense_Mutation_p.R472H	p.R473H	NM_004960	NP_004951	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	13	1523	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	473			Arg/Gly-rich.		Q9H4A8	Missense_Mutation	SNP	ENST00000254108.7	37	c.1418G>A	CCDS10707.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.616893	0.66672	.	.	ENSG00000089280	ENST00000254108;ENST00000394533	D	0.96685	-4.09	5.06	2.02	0.26589	.	0.139364	0.43260	D	0.000594	D	0.93337	0.7876	L	0.55990	1.75	0.18873	N	0.999981	B;B;B;B;B	0.13594	0.002;0.004;0.008;0.002;0.004	B;B;B;B;B	0.08055	0.001;0.001;0.003;0.001;0.001	D	0.86221	0.1631	10	0.54805	T	0.06	-0.23	9.6978	0.40167	0.234:0.0:0.766:0.0	.	473;473;472;247;473	Q8TBR3;Q6IBQ5;P35637-2;Q59H57;P35637	.;.;.;.;FUS_HUMAN	H	473;402	ENSP00000254108:R473H	ENSP00000254108:R473H	R	+	2	0	FUS	31109809	0.998000	0.40836	0.511000	0.27724	0.923000	0.55619	3.321000	0.51999	0.176000	0.19873	0.591000	0.81541	CGT		0.602	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960	
PDPR	55066	broad.mit.edu	37	16	70190589	70190589	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:70190589T>G	ENST00000288050.4	+	19	3404	c.2447T>G	c.(2446-2448)tTt>tGt	p.F816C	PDPR_ENST00000567046.1_Missense_Mutation_p.F174C|RP11-296I10.3_ENST00000502126.1_RNA|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000542659.1_Missense_Mutation_p.F161C|PDPR_ENST00000398122.3_Missense_Mutation_p.F716C|PDPR_ENST00000568530.1_Missense_Mutation_p.F816C	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	816					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TGCCTGGGCTTTGTGCACAAT	0.552																																						uc002eyf.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(2446-2448)tTt>tGt		Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.							154.0	173.0	167.0					16																	70190589		2077	4226	6303	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70190589T>G		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2447T>G	16.37:g.70190589T>G	ENSP00000288050:p.Phe816Cys					CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.F716C|PDPR_uc002eyg.1_Missense_Mutation_p.F483C|PDPR_uc002eyh.2_Missense_Mutation_p.F161C|PDPR_uc010vls.1_Missense_Mutation_p.F161C|PDPR_uc021tkj.1_5'Flank	p.F816C	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	18	3404	+			816					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.2447T>G	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.285013	0.80803	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055;ENST00000542659	T;T;T	0.77489	-1.1;-1.1;-1.1	6.03	4.92	0.64577	Glycine cleavage T-protein, C-terminal barrel (1);	0.212775	0.48767	D	0.000161	D	0.87216	0.6122	M	0.85945	2.785	0.53688	D	0.999977	D;D	0.65815	0.995;0.984	P;P	0.62813	0.907;0.823	D	0.88231	0.2903	10	0.87932	D	0	.	11.5986	0.50988	0.1373:0.0:0.0:0.8627	.	483;816	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	C	816;716;483;161	ENSP00000288050:F816C;ENSP00000381190:F716C;ENSP00000441690:F161C	ENSP00000205055:F483C	F	+	2	0	PDPR	68748090	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	5.098000	0.64548	1.062000	0.40625	0.455000	0.32223	TTT		0.552	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990	
MON1B	22879	broad.mit.edu	37	16	77229553	77229553	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:77229553G>A	ENST00000248248.3	+	5	1767	c.1417G>A	c.(1417-1419)Gct>Act	p.A473T	MON1B_ENST00000320859.6_Nonsense_Mutation_p.W136*|MON1B_ENST00000439557.2_Missense_Mutation_p.A364T|MON1B_ENST00000545553.1_Missense_Mutation_p.A327T	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	473										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TTACCACGTGGCTGAGAAGGA	0.587																																						uc002fez.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(1417-1419)Gct>Act		Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA.							79.0	73.0	75.0					16																	77229553		2198	4300	6498	SO:0001583	missense	22879						protein binding	g.chr16:77229553G>A	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1417G>A	16.37:g.77229553G>A	ENSP00000248248:p.Ala473Thr					MON1B_uc010vnf.2_Missense_Mutation_p.A364T|MON1B_uc010vng.2_Missense_Mutation_p.A327T|MON1B_uc002ffa.3_Missense_Mutation_p.A353T	p.A473T	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN			4	1747	+			473					B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	37	c.1417G>A	CCDS10925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.112622|6.112622	0.97296|0.97296	.|.	.|.	ENSG00000103111|ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553|ENST00000320859	.|.	.|.	.|.	5.12|5.12	3.14|3.14	0.36123|0.36123	.|.	0.049835|.	0.85682|.	N|.	0.000000|.	T|.	0.30230|.	0.0758|.	N|N	0.17082|0.17082	0.46|0.46	0.29307|0.29307	N|N	0.868279|0.868279	B;P;P;P|.	0.37207|.	0.014;0.587;0.587;0.576|.	B;B;B;B|.	0.39068|.	0.019;0.289;0.194;0.11|.	T|.	0.22068|.	-1.0227|.	9|.	0.14252|0.33141	T|T	0.57|0.24	.|.	10.2361|10.2361	0.43284|0.43284	0.1682:0.0:0.8318:0.0|0.1682:0.0:0.8318:0.0	.|.	327;364;353;473|.	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2|.	.;.;.;MON1B_HUMAN|.	T|X	473;364;327|136	.|.	ENSP00000248248:A473T|ENSP00000324833:W136X	A|W	+|+	1|3	0|0	MON1B|MON1B	75787054|75787054	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.475000|6.475000	0.73582|0.73582	0.815000|0.815000	0.34398|0.34398	0.655000|0.655000	0.94253|0.94253	GCT|TGG		0.587	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940	
DNAAF1	123872	broad.mit.edu	37	16	84183927	84183927	+	Missense_Mutation	SNP	C	C	T	rs375812500		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:84183927C>T	ENST00000378553.5	+	3	456	c.332C>T	c.(331-333)aCg>aTg	p.T111M	DNAAF1_ENST00000334315.5_Missense_Mutation_p.T111M	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	111			Missing (in CILD13). {ECO:0000269|PubMed:19944405}.		axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TTGAATGATACGCTGTATTTA	0.378																																						uc002fhl.4																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(331-333)aCg>aTg		Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.		C	MET/THR	0,4400		0,0,2200	82.0	78.0	79.0		332	3.0	0.0	16		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAAF1	NM_178452.4	81	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	111/726	84183927	1,12999	2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84183927C>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.332C>T	16.37:g.84183927C>T	ENSP00000367815:p.Thr111Met					DNAAF1_uc010chi.1_Non-coding_Transcript	p.T111M	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			2	513	+			111		Missing (in CILD13).			B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.332C>T	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066267	0.36470	0.0	1.16E-4	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.37584	1.19;1.67	5.13	3.05	0.35203	.	0.124408	0.53938	D	0.000049	T	0.51126	0.1656	M	0.62154	1.92	0.25950	N	0.982762	D	0.76494	0.999	D	0.67103	0.949	T	0.37384	-0.9708	10	0.72032	D	0.01	-8.0059	9.2501	0.37549	0.1449:0.7794:0.0:0.0758	.	111	Q8NEP3	DAAF1_HUMAN	M	111	ENSP00000334593:T111M;ENSP00000367815:T111M	ENSP00000334593:T111M	T	+	2	0	DNAAF1	82741428	0.591000	0.26824	0.029000	0.17559	0.123000	0.20343	2.411000	0.44600	1.167000	0.42706	0.591000	0.81541	ACG		0.378	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452	
OR1D5	8386	broad.mit.edu	37	17	2966349	2966349	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:2966349G>T	ENST00000575751.1	-	1	552	c.553C>A	c.(553-555)Ctg>Atg	p.L185M		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	185					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|lung(10)	11						GCCAGCCACAGCAGGATGTAC	0.537																																						uc021tns.1																			0				kidney(1)|lung(10)	11						c.(553-555)Ctg>Atg		Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.							66.0	75.0	72.0					17																	2966349		2178	4296	6474	SO:0001583	missense	8385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:2966349G>T	AF087923	CCDS58499.1	17p13.3	2012-10-09			ENSG00000262628	ENSG00000262628		"""GPCR / Class A : Olfactory receptors"""	8186	protein-coding gene	gene with protein product						10673334	Standard	NM_014566		Approved	OR17-31	uc021tns.1	P58170	OTTHUMG00000177676	ENST00000575751.1:c.553C>A	17.37:g.2966349G>T	ENSP00000459028:p.Leu185Met						p.L185M	NM_014566	NP_055381	P58170	OR1D5_HUMAN			0	553	-			185					Q96RA6	Missense_Mutation	SNP	ENST00000575751.1	37	c.553C>A	CCDS58499.1																																																																																				0.537	OR1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438410.2	NM_014566	
USP6	9098	broad.mit.edu	37	17	5042663	5042663	+	Missense_Mutation	SNP	C	C	T	rs577155682		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:5042663C>T	ENST00000574788.1	+	22	3422	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	USP6_ENST00000250066.6_Missense_Mutation_p.R398W|USP6_ENST00000332776.4_Missense_Mutation_p.R398W|USP6_ENST00000304328.5_Missense_Mutation_p.R81W			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	398					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCAGTTCCAGCGGCCCATTTG	0.657			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								C|||	1	0.000199681	0.0	0.0	5008	,	,		15567	0.0		0.0	False		,,,				2504	0.001					uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(1192-1194)Cgg>Tgg		Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.							33.0	38.0	36.0					17																	5042663		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5042663C>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1192C>T	17.37:g.5042663C>T	ENSP00000460380:p.Arg398Trp					USP6_uc002gav.1_Missense_Mutation_p.R398W|USP6_uc010ckz.1_Missense_Mutation_p.R81W|DQ573130_uc002gbd.3_5'Flank	p.R398W	NM_004505	NP_004496	P35125	UBP6_HUMAN			21	3422	+			398					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.1192C>T	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782986	0.31593	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.25749	2.39;2.88;1.78	0.0465	0.0465	0.14256	.	0.847860	0.10577	N	0.658403	T	0.19005	0.0456	N	0.03608	-0.345	0.09310	N	1	D;D	0.67145	0.996;0.994	P;P	0.58210	0.835;0.689	T	0.18555	-1.0333	9	0.72032	D	0.01	.	.	.	.	.	81;398	P35125-2;P35125	.;UBP6_HUMAN	W	398;398;81	ENSP00000328010:R398W;ENSP00000250066:R398W;ENSP00000305473:R81W	ENSP00000250066:R398W	R	+	1	2	USP6	4983387	0.098000	0.21812	0.138000	0.22173	0.140000	0.21249	0.877000	0.28106	0.132000	0.18615	0.134000	0.15878	CGG		0.657	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	
MKS1	54903	broad.mit.edu	37	17	56288050	56288050	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:56288050C>T	ENST00000393119.2	-	11	1068	c.994G>A	c.(994-996)Gtc>Atc	p.V332I	MKS1_ENST00000537529.2_Missense_Mutation_p.V322I|MKS1_ENST00000337050.7_Missense_Mutation_p.V332I|MKS1_ENST00000313863.6_Missense_Mutation_p.V332I|MKS1_ENST00000546108.1_Missense_Mutation_p.V129I	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	332	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAGAAGTGGACGTAGAGATTG	0.423																																						uc002ivr.2																			0				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(994-996)Gtc>Atc		Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.							127.0	120.0	122.0					17																	56288050		1876	4107	5983	SO:0001583	missense	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56288050C>T	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.994G>A	17.37:g.56288050C>T	ENSP00000376827:p.Val332Ile					MKS1_uc010wnq.2_Missense_Mutation_p.V129I|MKS1_uc021uam.1_Missense_Mutation_p.V322I	p.V332I	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN			10	1069	-			332			B9.		B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	c.994G>A	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494551	0.44352	.	.	ENSG00000011143	ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050;ENST00000546108	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.5	4.54	0.55810	.	0.166139	0.53938	D	0.000050	T	0.55386	0.1917	L	0.28458	0.855	0.50813	D	0.999893	P;B	0.35923	0.528;0.011	B;B	0.31245	0.126;0.038	T	0.52764	-0.8532	10	0.25106	T	0.35	-29.7657	12.9001	0.58121	0.0:0.9211:0.0:0.0789	.	332;332	A8MPP8;Q9NXB0	.;MKS1_HUMAN	I	322;332;332;332;129	ENSP00000442096:V322I;ENSP00000376827:V332I;ENSP00000338407:V332I;ENSP00000443012:V129I	ENSP00000338407:V332I	V	-	1	0	MKS1	53643049	0.697000	0.27767	0.990000	0.47175	0.988000	0.76386	1.307000	0.33516	1.293000	0.44690	0.643000	0.83706	GTC		0.423	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777	
LLGL2	3993	broad.mit.edu	37	17	73555474	73555474	+	Silent	SNP	G	G	C	rs553929286	byFrequency	TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:73555474G>C	ENST00000392550.3	+	6	630	c.513G>C	c.(511-513)tcG>tcC	p.S171S	LLGL2_ENST00000577200.1_Silent_p.S171S|LLGL2_ENST00000167462.5_Silent_p.S171S|LLGL2_ENST00000375227.4_Silent_p.S171S|LLGL2_ENST00000578363.1_Silent_p.S171S	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	171					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCATCAGCTCGGACGCGGTGC	0.617																																						uc002joh.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(511-513)tcG>tcC		Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.							93.0	69.0	77.0					17																	73555474		2203	4300	6503	SO:0001819	synonymous_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73555474G>C	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.513G>C	17.37:g.73555474G>C						LLGL2_uc002jog.1_Silent_p.S171S|LLGL2_uc010dgf.1_Silent_p.S171S|LLGL2_uc002joi.3_Silent_p.S171S|LLGL2_uc010dgg.2_Silent_p.S171S|LLGL2_uc002joj.3_Silent_p.S160S	p.S171S	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		5	667	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		171					Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	c.513G>C	CCDS32733.1																																																																																				0.617	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524	
RNF213	57674	broad.mit.edu	37	17	78355436	78355436	+	Silent	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:78355436G>A	ENST00000582970.1	+	57	14030	c.13887G>A	c.(13885-13887)aaG>aaA	p.K4629K	RNF213_ENST00000336301.6_Silent_p.K2702K|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.K4678K	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4629					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGTTGGCCAAGATGCTGGGAC	0.567																																						uc002jyh.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(14032-14034)aaG>aaA		SubName: Full=Uncharacterized protein;							103.0	84.0	91.0					17																	78355436		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78355436G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13887G>A	17.37:g.78355436G>A						RNF213_uc021uen.1_Silent_p.K4629K|LOC100294362_uc002jyi.2_Intron	p.K4678K	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		57	14177	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.14034G>A	CCDS58606.1																																																																																				0.567	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
DSC3	1825	broad.mit.edu	37	18	28584256	28584256	+	Silent	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr18:28584256C>T	ENST00000360428.4	-	13	2045	c.1965G>A	c.(1963-1965)agG>agA	p.R655R	DSC3_ENST00000434452.1_Silent_p.R655R	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	655	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTTGGCCGGCCCTGTCTTTTA	0.383																																						uc002kwj.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1963-1965)agG>agA		Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.							114.0	116.0	115.0					18																	28584256		2203	4300	6503	SO:0001819	synonymous_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28584256C>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1965G>A	18.37:g.28584256C>T						DSC3_uc002kwi.4_Silent_p.R655R	p.R655R	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		12	2120	-			655			Cadherin 5.		A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	c.1965G>A	CCDS32810.1																																																																																				0.383	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423	
MUC16	94025	broad.mit.edu	37	19	9090417	9090417	+	Missense_Mutation	SNP	G	G	C	rs376940169		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr19:9090417G>C	ENST00000397910.4	-	1	1601	c.1398C>G	c.(1396-1398)agC>agG	p.S466R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	466	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S466R(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTGATCTTGCTGTCAAGAG	0.522																																						uc002mkp.3																			2	Substitution - Missense(2)	p.S466R(3)	endometrium(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1396-1398)agC>agG		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							173.0	162.0	166.0					19																	9090417		1983	4162	6145	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090417G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1398C>G	19.37:g.9090417G>C	ENSP00000381008:p.Ser466Arg						p.S466R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	1602	-			466			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1398C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.891	-0.725498	0.03158	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.45	0.345	0.16011	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	.	.	.	B	0.11235	0.004	B	0.06405	0.002	T	0.35822	-0.9773	8	0.87932	D	0	.	5.5833	0.17262	0.0:0.3493:0.6507:0.0	.	466	B5ME49	.	R	466	ENSP00000381008:S466R	ENSP00000381008:S466R	S	-	3	2	MUC16	8951417	0.000000	0.05858	0.029000	0.17559	0.006000	0.05464	-0.197000	0.09518	0.169000	0.19679	-0.802000	0.03209	AGC		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF571	51276	broad.mit.edu	37	19	38056190	38056193	+	Frame_Shift_Del	DEL	GTAA	GTAA	-	rs531640879	byFrequency	TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr19:38056190_38056193delGTAA	ENST00000328550.2	-	4	1236_1239	c.1137_1140delTTAC	c.(1135-1140)acttacfs	p.TY379fs	ZNF571_ENST00000451802.2_Frame_Shift_Del_p.TY379fs|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Frame_Shift_Del_p.TY379fs|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000358744.3_Frame_Shift_Del_p.TY379fs|ZNF571-AS1_ENST00000587121.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTCAGGTGGTAAGTAAGTTGTG	0.377														5	0.000998403	0.0	0.0	5008	,	,		22055	0.0		0.0	False		,,,				2504	0.0051					uc002ogs.1																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25								Homo sapiens zinc finger protein 571, mRNA (cDNA clone MGC:138690 IMAGE:40036719), complete cds.																																				SO:0001589	frameshift_variant	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056190_38056193delGTAA	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1137_1140delTTAC	19.37:g.38056194_38056197delGTAA	ENSP00000333660:p.Thr379fs					LOC100507433_uc002ogm.3_Intron|LOC100507433_uc002ogn.3_Intron|LOC100507433_uc002ogo.3_Intron|LOC100507433_uc002ogp.3_Intron|LOC100507433_uc002ogq.3_Intron|ZNF571_uc002ogr.1_Intron|ZNF571_uc002ogt.3_Frame_Shift_Del_p.T379fs|ZNF571_uc010efp.3_Frame_Shift_Del_p.T379fs				Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)				-								Q2HIY0|Q3ZCU3|Q9NZX7	Frame_Shift_Del	DEL	ENST00000328550.2	37		CCDS12505.1																																																																																				0.377	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536	
CCDC150	284992	broad.mit.edu	37	2	197540931	197540931	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr2:197540931C>T	ENST00000389175.4	+	11	1337	c.1202C>T	c.(1201-1203)gCc>gTc	p.A401V	CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000272831.7_Missense_Mutation_p.A69V|CCDC150_ENST00000423093.2_Missense_Mutation_p.A69V	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	401										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCAGCCCATGCCAGTATCACA	0.388																																						uc002utp.1																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1201-1203)gCc>gTc		Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.							145.0	144.0	144.0					2																	197540931		1918	4133	6051	SO:0001583	missense	284992							g.chr2:197540931C>T		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1202C>T	2.37:g.197540931C>T	ENSP00000373827:p.Ala401Val					CCDC150_uc010zgq.1_Non-coding_Transcript|CCDC150_uc010zgr.1_Non-coding_Transcript|CCDC150_uc010zgs.1_Missense_Mutation_p.A69V	p.A401V	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN			10	1337	+			401					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.1202C>T	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.102868	0.56183	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000423093	T	0.48522	0.81	5.27	4.38	0.52667	.	0.434461	0.19680	N	0.108539	T	0.38772	0.1053	L	0.51422	1.61	0.29007	N	0.887082	P;P	0.46064	0.872;0.872	B;B	0.38562	0.276;0.276	T	0.35748	-0.9776	10	0.28530	T	0.3	.	11.5363	0.50639	0.0:0.9139:0.0:0.0861	.	69;401	B4DZ03;Q8NCX0	.;CC150_HUMAN	V	69;401;69	ENSP00000373827:A401V	ENSP00000272831:A69V	A	+	2	0	CCDC150	197249176	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.880000	0.48530	2.737000	0.93849	0.563000	0.77884	GCC		0.388	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539	
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						uc010ztl.1																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(157-159)Gcc>Acc		Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.																																				SO:0001583	missense	284802							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A5T	p.A53T							2	189	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.157G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
REM1	28954	broad.mit.edu	37	20	30072181	30072181	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr20:30072181G>A	ENST00000201979.2	+	5	1138	c.845G>A	c.(844-846)cGc>cAc	p.R282H	LINC00028_ENST00000435497.1_lincRNA	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	282	Arg-rich.|Calmodulin-binding. {ECO:0000250}.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGCGCACGCCGCCGGGCACTC	0.701																																						uc002wwa.3																			0				kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23						c.(844-846)cGc>cAc		Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.							4.0	6.0	6.0					20																	30072181		2029	4101	6130	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30072181G>A	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.845G>A	20.37:g.30072181G>A	ENSP00000201979:p.Arg282His					LINC00028_uc010ztn.1_5'Flank	p.R282H	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		4	1129	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		282			Arg-rich.|Calmodulin-binding (By similarity).		E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.845G>A	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433003	0.62844	.	.	ENSG00000088320	ENST00000201979	T	0.66815	-0.23	5.02	4.0	0.46444	.	0.464718	0.20623	N	0.088727	T	0.63885	0.2549	L	0.29908	0.895	0.33865	D	0.634302	D	0.71674	0.998	P	0.56088	0.791	T	0.72465	-0.4285	10	0.72032	D	0.01	.	8.3225	0.32136	0.147:0.0:0.853:0.0	.	282	O75628	REM1_HUMAN	H	282	ENSP00000201979:R282H	ENSP00000201979:R282H	R	+	2	0	REM1	29535842	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	2.453000	0.44970	2.585000	0.87301	0.561000	0.74099	CGC		0.701	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012	
HCK	3055	broad.mit.edu	37	20	30689234	30689234	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr20:30689234C>T	ENST00000520553.1	+	13	1676	c.1430C>T	c.(1429-1431)cCg>cTg	p.P477L	HCK_ENST00000375862.2_Missense_Mutation_p.P497L|HCK_ENST00000538448.1_Missense_Mutation_p.P477L|HCK_ENST00000534862.1_Missense_Mutation_p.P478L|HCK_ENST00000518730.1_Missense_Mutation_p.P476L|HCK_ENST00000375852.2_Missense_Mutation_p.P498L	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	498	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.P477L(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	AAAAACCGTCCGGAGGAGCGG	0.572																																						uc002wxh.3																			1	Substitution - Missense(1)	p.P477L(1)	central_nervous_system(1)	NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(1492-1494)cCg>cTg		Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.							57.0	49.0	52.0					20																	30689234		2203	4300	6503	SO:0001583	missense	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30689234C>T	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1430C>T	20.37:g.30689234C>T	ENSP00000429848:p.Pro477Leu					HCK_uc010gdy.3_Missense_Mutation_p.P478L|HCK_uc021wbv.1_Missense_Mutation_p.P477L|HCK_uc002wxi.3_Missense_Mutation_p.P476L	p.P498L	NM_001172133	NP_001165604	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		12	1730	+			498			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.1493C>T	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200789	0.94997	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33	4.9	4.9	0.64082	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.064498	0.64402	D	0.000006	T	0.52208	0.1720	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.964;0.979	T	0.65113	-0.6247	10	0.87932	D	0	.	17.2488	0.87035	0.0:1.0:0.0:0.0	.	476;498	P08631-3;P08631	.;HCK_HUMAN	L	478;477;497;477;476;498	ENSP00000444986:P478L;ENSP00000441169:P477L;ENSP00000365022:P497L;ENSP00000429848:P477L;ENSP00000427757:P476L;ENSP00000365012:P498L	ENSP00000365012:P498L	P	+	2	0	HCK	30152895	1.000000	0.71417	0.943000	0.38184	0.984000	0.73092	7.649000	0.83500	2.560000	0.86352	0.561000	0.74099	CCG		0.572	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1		
ELMO2	63916	broad.mit.edu	37	20	45023078	45023078	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr20:45023078G>A	ENST00000290246.6	-	3	238	c.44C>T	c.(43-45)cCa>cTa	p.P15L	ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.P15L|ELMO2_ENST00000439931.2_Missense_Mutation_p.P15L|ELMO2_ENST00000396391.1_Missense_Mutation_p.P15L|ELMO2_ENST00000372176.1_5'UTR	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	15					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GTTAGCACCTGGCCACTCAAT	0.547																																						uc010zxr.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(43-45)cCa>cTa		Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.							126.0	97.0	107.0					20																	45023078		2203	4300	6503	SO:0001583	missense	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45023078G>A	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.44C>T	20.37:g.45023078G>A	ENSP00000290246:p.Pro15Leu					ELMO2_uc002xrt.1_Missense_Mutation_p.P15L|ELMO2_uc002xru.1_Missense_Mutation_p.P15L|ELMO2_uc010zxs.1_5'UTR|ELMO2_uc002xrx.1_Missense_Mutation_p.P15L	p.P15L	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN			2	254	-		Myeloproliferative disorder(115;0.0122)	15					E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.44C>T	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138549	0.94560	.	.	ENSG00000062598	ENST00000290246;ENST00000396391;ENST00000439931;ENST00000352077;ENST00000450812	T;T;T;T;T	0.24908	2.46;2.46;2.46;2.46;1.83	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	M	0.71581	2.175	0.80722	D	1	D;P	0.63046	0.992;0.896	P;B	0.59487	0.858;0.334	T	0.49113	-0.8973	10	0.56958	D	0.05	-3.4505	16.7399	0.85456	0.0:0.0:1.0:0.0	.	15;15	B4DRL5;Q96JJ3	.;ELMO2_HUMAN	L	15	ENSP00000290246:P15L;ENSP00000379673:P15L;ENSP00000396519:P15L;ENSP00000326172:P15L;ENSP00000416181:P15L	ENSP00000290246:P15L	P	-	2	0	ELMO2	44456485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.595000	0.98260	2.419000	0.82065	0.591000	0.81541	CCA		0.547	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086	
APPL1	26060	broad.mit.edu	37	3	57302493	57302493	+	Missense_Mutation	SNP	A	A	G	rs144769112	byFrequency	TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr3:57302493A>G	ENST00000288266.3	+	21	2108	c.1961A>G	c.(1960-1962)aAt>aGt	p.N654S	ASB14_ENST00000487349.1_3'UTR|ASB14_ENST00000389601.3_3'UTR	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	654	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		aaagaactcaataaacaaaaa	0.308													A|||	3	0.000599042	0.0015	0.0	5008	,	,		17251	0.0		0.001	False		,,,				2504	0.0					uc003dio.3																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(1960-1962)aAt>aGt		Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.		A	,SER/ASN,	3,4397	6.2+/-15.9	0,3,2197	102.0	97.0	99.0		,1961,	0.8	1.0	3	dbSNP_134	99	6,8594	5.0+/-18.6	0,6,4294	yes	utr-3,missense,utr-3	APPL1,ASB14	NM_001142733.2,NM_012096.2,NM_130387.5	,46,	0,9,6491	GG,GA,AA		0.0698,0.0682,0.0692	,benign,	,654/710,	57302493	9,12991	2200	4300	6500	SO:0001583	missense	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57302493A>G	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1961A>G	3.37:g.57302493A>G	ENSP00000288266:p.Asn654Ser					APPL1_uc011bey.1_Missense_Mutation_p.N637S|ASB14_uc003dip.1_3'UTR|ASB14_uc003diq.3_3'UTR	p.N654S	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	20	2108	+			654			PID.		Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	c.1961A>G	CCDS2882.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	A	0.540	-0.853875	0.02630	6.82E-4	6.98E-4	ENSG00000157500	ENST00000288266	T	0.08896	3.04	3.86	0.785	0.18584	.	0.501380	0.23694	N	0.045489	T	0.02688	0.0081	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44513	-0.9323	10	0.02654	T	1	-23.5591	4.5347	0.12022	0.2106:0.3546:0.4348:0.0	.	654	Q9UKG1	DP13A_HUMAN	S	654	ENSP00000288266:N654S	ENSP00000288266:N654S	N	+	2	0	APPL1	57277533	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	0.832000	0.27490	0.174000	0.19809	-0.321000	0.08615	AAT		0.308	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096	
MAGI1	9223	broad.mit.edu	37	3	65342645	65342645	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr3:65342645G>A	ENST00000402939.2	-	23	3796	c.3797C>T	c.(3796-3798)cCg>cTg	p.P1266L	RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1295					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GCTGCCTTTCGGATCCCTTGC	0.592																																						uc003dmn.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(3796-3798)cCg>cTg		Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.							156.0	146.0	149.0					3																	65342645		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342645G>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.3797C>T	3.37:g.65342645G>A	ENSP00000385450:p.Pro1266Leu					MAGI1_uc003dmm.3_3'UTR	p.P1266L	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	22	4323	-		Lung NSC(201;0.0016)	1295					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	37	c.3797C>T	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	G	8.895	0.955023	0.18507	.	.	ENSG00000151276	ENST00000402939	T	0.12465	2.68	4.6	4.6	0.57074	.	0.301431	0.31636	N	0.007305	T	0.08935	0.0221	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.21999	-1.0229	10	0.22706	T	0.39	-2.2796	11.4787	0.50312	0.0966:0.0:0.9034:0.0	.	1266	Q96QZ7-2	.	L	1266	ENSP00000385450:P1266L	ENSP00000385450:P1266L	P	-	2	0	MAGI1	65317685	1.000000	0.71417	0.564000	0.28396	0.781000	0.44180	4.258000	0.58822	2.097000	0.63578	0.491000	0.48974	CCG		0.592	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742	
TMPRSS7	344805	broad.mit.edu	37	3	111794198	111794198	+	Missense_Mutation	SNP	G	G	A	rs142998665	byFrequency	TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr3:111794198G>A	ENST00000452346.2	+	15	1817	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.R479H			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	605					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCCCTTCACCGCATCATCGGA	0.537													G|||	8	0.00159744	0.0	0.0	5008	,	,		19876	0.0079		0.0	False		,,,				2504	0.0					uc010hqb.2																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1435-1437)cGc>cAc		Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.							101.0	107.0	105.0					3																	111794198		1958	4166	6124	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111794198G>A	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1814G>A	3.37:g.111794198G>A	ENSP00000398236:p.Arg605His					TMPRSS7_uc011bhr.1_Missense_Mutation_p.R334H	p.R479H	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			12	1606	+			605			CUB 2.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.1436G>A		3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	19.70	3.877243	0.72294	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.66280	-0.2;-0.2	5.7	5.7	0.88788	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.81984	-0.0682	10	0.87932	D	0	.	18.5933	0.91222	0.0:0.0:1.0:0.0	.	605;479	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	H	605;593;579;479	ENSP00000398236:R605H;ENSP00000411645:R479H	ENSP00000411645:R479H	R	+	2	0	TMPRSS7	113276888	1.000000	0.71417	0.749000	0.31150	0.141000	0.21300	8.812000	0.91959	2.678000	0.91216	0.655000	0.94253	CGC		0.537	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599	
ABCF3	55324	broad.mit.edu	37	3	183906608	183906608	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr3:183906608A>G	ENST00000429586.2	+	8	1081	c.896A>G	c.(895-897)gAg>gGg	p.E299G	ABCF3_ENST00000292808.5_Missense_Mutation_p.E293G|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	299	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGGAGATTGAGGCTGACAAG	0.532																																						uc003fmz.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.(895-897)gAg>gGg		Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.							84.0	96.0	92.0					3																	183906608		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183906608A>G	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.896A>G	3.37:g.183906608A>G	ENSP00000411471:p.Glu299Gly					ABCF3_uc003fna.2_Missense_Mutation_p.E293G|ABCF3_uc003fnb.2_5'UTR	p.E299G	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		7	1029	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		299			ABC transporter 1.		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.896A>G	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.546635	0.65198	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.92048	-2.96;-2.95	5.24	5.24	0.73138	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.86460	0.5938	N	0.00500	-1.43	0.80722	D	1	D;B	0.69078	0.997;0.094	D;B	0.70016	0.967;0.123	D	0.91641	0.5327	10	0.54805	T	0.06	-24.8741	14.3112	0.66416	1.0:0.0:0.0:0.0	.	293;299	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	G	299;293	ENSP00000411471:E299G;ENSP00000292808:E293G	ENSP00000292808:E293G	E	+	2	0	ABCF3	185389302	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.442000	0.90317	1.968000	0.57251	0.533000	0.62120	GAG		0.532	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358	
CRIPAK	285464	broad.mit.edu	37	4	1389456	1389457	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr4:1389456_1389457delCA	ENST00000324803.4	+	1	4117_4118	c.1157_1158delCA	c.(1156-1158)tcafs	p.S386fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	386	Interaction with PAK1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCTGCCTGCTCACACACGTGCC	0.639																																						uc003gdf.2																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1156-1158)tcafs		Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389456_1389457delCA	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1157_1158delCA	4.37:g.1389460_1389461delCA	ENSP00000323978:p.Ser386fs						p.S386fs	NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		0	4117_4118	+			386			Interaction with PAK1.		Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	c.1157_1158delCA	CCDS3349.1																																																																																				0.639	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
SORCS2	57537	broad.mit.edu	37	4	7719828	7719828	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr4:7719828G>A	ENST00000507866.2	+	18	2451	c.2342G>A	c.(2341-2343)cGg>cAg	p.R781Q	SORCS2_ENST00000329016.9_Missense_Mutation_p.R609Q	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	781					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACGCCGCCCCGGGGCCTGCAG	0.652																																						uc003gkb.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2341-2343)cGg>cAg		Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.							27.0	33.0	31.0					4																	7719828		2075	4186	6261	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7719828G>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2342G>A	4.37:g.7719828G>A	ENSP00000422185:p.Arg781Gln					SORCS2_uc011bwi.2_Missense_Mutation_p.R609Q	p.R781Q	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN			17	2342	+			781					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.2342G>A	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960009	0.34565	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.68181	-0.31;-0.31	4.41	4.41	0.53225	PKD domain (1);	0.477880	0.18419	N	0.141801	T	0.52980	0.1768	L	0.52759	1.655	0.31788	N	0.63005	D;P	0.54207	0.965;0.786	B;B	0.35278	0.199;0.185	T	0.66337	-0.5949	10	0.52906	T	0.07	.	8.4928	0.33110	0.1443:0.0:0.8557:0.0	.	609;781	B5MED8;Q96PQ0	.;SORC2_HUMAN	Q	781;609	ENSP00000422185:R781Q;ENSP00000329124:R609Q	ENSP00000329124:R609Q	R	+	2	0	SORCS2	7770728	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	1.063000	0.30567	2.284000	0.76573	0.655000	0.94253	CGG		0.652	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777	
DRD5	1816	broad.mit.edu	37	4	9784478	9784478	+	Missense_Mutation	SNP	C	C	A	rs201762034		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr4:9784478C>A	ENST00000304374.2	+	1	1221	c.825C>A	c.(823-825)agC>agA	p.S275R		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	275					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.S275R(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCCGGAGCAGCGCAGCCTGCG	0.637																																						uc003gmb.4																			2	Substitution - Missense(2)	p.S275R(4)	prostate(1)|lung(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(823-825)agC>agA		Homo sapiens dopamine receptor D5 (DRD5), mRNA.	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						24.0	23.0	23.0					4																	9784478		2200	4286	6486	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784478C>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.825C>A	4.37:g.9784478C>A	ENSP00000306129:p.Ser275Arg						p.S275R	NM_000798	NP_000789	P21918	DRD5_HUMAN			0	1221	+			275					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.825C>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	3.108	-0.183303	0.06340	.	.	ENSG00000169676	ENST00000304374	T	0.68624	-0.34	4.6	-3.74	0.04385	GPCR, rhodopsin-like superfamily (1);	2.577270	0.01820	N	0.034008	T	0.47637	0.1456	L	0.33137	0.985	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.08597	-1.0714	10	0.18710	T	0.47	.	0.5996	0.00742	0.329:0.2707:0.11:0.2903	.	275	P21918	DRD5_HUMAN	R	275	ENSP00000306129:S275R	ENSP00000306129:S275R	S	+	3	2	DRD5	9393576	0.000000	0.05858	0.001000	0.08648	0.730000	0.41778	-0.494000	0.06451	-0.695000	0.05105	0.305000	0.20034	AGC		0.637	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1		
CLOCK	9575	broad.mit.edu	37	4	56348941	56348941	+	Silent	SNP	G	G	A	rs149959118		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr4:56348941G>A	ENST00000309964.4	-	3	262	c.12C>T	c.(10-12)acC>acT	p.T4T	CLOCK_ENST00000506923.1_5'UTR|CLOCK_ENST00000381322.1_Silent_p.T4T|CLOCK_ENST00000513440.1_Silent_p.T4T	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	4					cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TACAGCTTACGGTAAACAACA	0.274																																						uc003haz.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(10-12)acC>acT		Homo sapiens clock homolog (mouse) (CLOCK), mRNA.		G		1,4403	2.1+/-5.4	0,1,2201	99.0	86.0	90.0		12	5.2	1.0	4	dbSNP_134	90	0,8588		0,0,4294	no	coding-synonymous	CLOCK	NM_004898.2		0,1,6495	AA,AG,GG		0.0,0.0227,0.0077		4/847	56348941	1,12991	2202	4294	6496	SO:0001819	synonymous_variant	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56348941G>A	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.12C>T	4.37:g.56348941G>A						CLOCK_uc003hba.1_Silent_p.T4T	p.T4T	NM_004898	NP_004889	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		4	938	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		4					A0AV01|A2I2N9|O14516|Q9UIT8	Silent	SNP	ENST00000309964.4	37	c.12C>T	CCDS3500.1																																																																																				0.274	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898	
USP38	84640	broad.mit.edu	37	4	144141519	144141519	+	Silent	SNP	A	A	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr4:144141519A>T	ENST00000307017.4	+	10	3545	c.3039A>T	c.(3037-3039)ggA>ggT	p.G1013G		NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	1013					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GGCCCAATGGATTTGATGACA	0.458																																						uc003ijb.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33						c.(3037-3039)ggA>ggT		Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA.							88.0	91.0	90.0					4																	144141519		2203	4300	6503	SO:0001819	synonymous_variant	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144141519A>T	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.3039A>T	4.37:g.144141519A>T						USP38_uc003ijc.3_Non-coding_Transcript	p.G1013G	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN			9	3573	+	all_hematologic(180;0.158)		1013					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Silent	SNP	ENST00000307017.4	37	c.3039A>T	CCDS3758.1																																																																																				0.458	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557	
PCDHB6	56130	broad.mit.edu	37	5	140532029	140532029	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr5:140532029C>G	ENST00000231136.1	+	1	2191	c.2191C>G	c.(2191-2193)Cca>Gca	p.P731A	PCDHB6_ENST00000543635.1_Missense_Mutation_p.P595A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	731					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGTCCCTTTCCAGGGCATCT	0.612																																						uc003lir.3																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(2191-2193)Cca>Gca		Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.							105.0	117.0	113.0					5																	140532029		2202	4300	6502	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140532029C>G	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2191C>G	5.37:g.140532029C>G	ENSP00000231136:p.Pro731Ala						p.P731A	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2191	+			731					B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.2191C>G	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280563	0.59758	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.53857	0.6;0.64	4.45	4.45	0.53987	.	.	.	.	.	T	0.55353	0.1915	M	0.70108	2.13	0.38867	D	0.956611	B	0.14805	0.011	B	0.21151	0.033	T	0.59268	-0.7486	9	0.46703	T	0.11	.	17.1018	0.86652	0.0:1.0:0.0:0.0	.	731	Q9Y5E3	PCDB6_HUMAN	A	595;731	ENSP00000438466:P595A;ENSP00000231136:P731A	ENSP00000231136:P731A	P	+	1	0	PCDHB6	140512213	0.003000	0.15002	0.812000	0.32479	0.027000	0.11550	1.520000	0.35899	2.187000	0.69744	0.556000	0.70494	CCA		0.612	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939	
FILIP1	27145	broad.mit.edu	37	6	76063397	76063397	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr6:76063397G>A	ENST00000237172.7	-	4	817	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	FILIP1_ENST00000393004.2_Missense_Mutation_p.R163W|FILIP1_ENST00000370020.1_Missense_Mutation_p.R64W	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	163										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGCATGCGCCGGTAGGTTTCT	0.428																																						uc010kbe.3																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(496-498)Cgg>Tgg		Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.							126.0	115.0	118.0					6																	76063397		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76063397G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.487C>T	6.37:g.76063397G>A	ENSP00000237172:p.Arg163Trp					FILIP1_uc003phy.1_Missense_Mutation_p.R163W|FILIP1_uc003phz.3_Missense_Mutation_p.R64W|FILIP1_uc003pia.3_Missense_Mutation_p.R163W	p.R166W	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			4	1026	-			163					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.496C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395343	0.83011	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.52295	0.67;0.67;0.67	5.79	4.91	0.64330	Cortactin-binding protein-2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61098	0.2320	M	0.69823	2.125	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	T	0.68488	-0.5395	10	0.87932	D	0	-16.7465	16.1884	0.81971	0.0:0.0:0.8657:0.1343	.	163;163;163	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	W	163;163;64	ENSP00000376728:R163W;ENSP00000237172:R163W;ENSP00000359037:R64W	ENSP00000237172:R163W	R	-	1	2	FILIP1	76120117	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.104000	0.50306	1.427000	0.47276	0.561000	0.74099	CGG		0.428	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
SGK1	6446	broad.mit.edu	37	6	134493370	134493370	+	Silent	SNP	T	T	C			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr6:134493370T>C	ENST00000237305.7	-	8	835	c.747A>G	c.(745-747)gaA>gaG	p.E249E	SGK1_ENST00000413996.3_Silent_p.E263E|SGK1_ENST00000367858.5_Silent_p.E344E|SGK1_ENST00000475719.2_Silent_p.E205E|SGK1_ENST00000367857.5_Silent_p.E239E|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000528577.1_Silent_p.E277E	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGCTGTTGTGTTCAATGTTCT	0.468																																						uc003qen.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(745-747)gaA>gaG		Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.							270.0	241.0	251.0					6																	134493370		2203	4300	6503	SO:0001819	synonymous_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134493370T>C	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.747A>G	6.37:g.134493370T>C						SGK1_uc003qeo.4_Silent_p.E344E|SGK1_uc011ect.2_Silent_p.E239E|SGK1_uc011ecu.2_Silent_p.E205E|SGK1_uc011ecv.2_Silent_p.E263E|SGK1_uc011ecw.2_Silent_p.E277E	p.E249E	NM_005627	NP_005618	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	7	836	-	Colorectal(23;0.221)		249			Protein kinase.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	c.747A>G	CCDS5170.1																																																																																				0.468	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2		
LRP11	84918	broad.mit.edu	37	6	150174287	150174287	+	Missense_Mutation	SNP	G	G	A	rs150922217	byFrequency	TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr6:150174287G>A	ENST00000239367.2	-	2	628	c.623C>T	c.(622-624)gCg>gTg	p.A208V	LRP11_ENST00000546019.1_5'UTR|RP11-350J20.12_ENST00000472053.2_RNA|LRP11_ENST00000367368.2_Missense_Mutation_p.A208V	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	208						integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		AAGTGGAGGCGCATCCTTTTC	0.438																																						uc003qng.2																			0				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8						c.(622-624)gCg>gTg		Homo sapiens low density lipoprotein receptor-related protein 11 (LRP11), mRNA.		G	VAL/ALA	0,4406		0,0,2203	57.0	52.0	53.0		623	3.1	1.0	6	dbSNP_134	53	2,8598	2.2+/-6.3	0,2,4298	yes	missense	LRP11	NM_032832.5	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	208/501	150174287	2,13004	2203	4300	6503	SO:0001583	missense	84918					integral to membrane	receptor activity	g.chr6:150174287G>A	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"""Low density lipoprotein receptors"""	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.623C>T	6.37:g.150174287G>A	ENSP00000239367:p.Ala208Val					LRP11_uc003qnh.1_Missense_Mutation_p.A208V	p.A208V	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)	1	947	-		Ovarian(120;0.0907)	208					Q5VYC0|Q96SN6	Missense_Mutation	SNP	ENST00000239367.2	37	c.623C>T	CCDS5220.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491527	0.26774	0.0	2.33E-4	ENSG00000120256	ENST00000239367;ENST00000367368	T;T	0.13089	2.62;2.62	5.54	3.09	0.35607	PKD domain (1);	0.264933	0.42821	D	0.000651	T	0.02494	0.0076	N	0.17631	0.505	0.80722	D	1	P;P	0.49447	0.833;0.924	B;B	0.30105	0.096;0.111	T	0.50311	-0.8843	10	0.52906	T	0.07	-13.944	10.7567	0.46241	0.0:0.0:0.363:0.637	.	208;208	Q5VYB9;Q86VZ4	.;LRP11_HUMAN	V	208	ENSP00000239367:A208V;ENSP00000356338:A208V	ENSP00000239367:A208V	A	-	2	0	LRP11	150215980	1.000000	0.71417	0.981000	0.43875	0.538000	0.34931	3.589000	0.53972	0.359000	0.24239	-0.274000	0.10170	GCG		0.438	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832	
SEMA3C	10512	broad.mit.edu	37	7	80433493	80433493	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:80433493A>G	ENST00000265361.3	-	8	1291	c.730T>C	c.(730-732)Ttc>Ctc	p.F244L	SEMA3C_ENST00000419255.2_Missense_Mutation_p.F244L|SEMA3C_ENST00000544525.1_Missense_Mutation_p.F262L|SEMA3C_ENST00000536800.1_Missense_Mutation_p.F96L	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	244	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTTTCTTTGAAGAAGAAGTAC	0.368																																						uc011kgw.2																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(784-786)Ttc>Ctc		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.							147.0	139.0	142.0					7																	80433493		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80433493A>G	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.730T>C	7.37:g.80433493A>G	ENSP00000265361:p.Phe244Leu					SEMA3C_uc003uhj.3_Missense_Mutation_p.F244L|SEMA3C_uc011kgx.1_Missense_Mutation_p.F96L	p.F262L	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			7	863	-			244			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.784T>C	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.443182	0.63067	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.187313	0.64402	D	0.000017	T	0.20251	0.0487	L	0.53561	1.675	0.46586	D	0.99911	P;B;B	0.41498	0.752;0.057;0.07	B;B;B	0.37731	0.257;0.053;0.088	T	0.01512	-1.1336	10	0.66056	D	0.02	.	15.8229	0.78673	1.0:0.0:0.0:0.0	.	96;262;244	B4DRL8;F5H1Z7;Q99985	.;.;SEM3C_HUMAN	L	244;244;262;96	ENSP00000265361:F244L;ENSP00000411193:F244L;ENSP00000445649:F262L;ENSP00000438258:F96L	ENSP00000265361:F244L	F	-	1	0	SEMA3C	80271429	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.230000	0.72301	2.130000	0.65690	0.477000	0.44152	TTC		0.368	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379	
COL1A2	1278	broad.mit.edu	37	7	94037543	94037543	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:94037543C>T	ENST00000297268.6	+	14	1159	c.688C>T	c.(688-690)Cca>Tca	p.P230S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	230					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.P230S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGCCCCTGGCCCAGCTGTAAG	0.398										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)	p.P230S(2)	central_nervous_system(1)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(688-690)Cca>Tca		Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	Collagenase(DB00048)						112.0	118.0	116.0					7																	94037543		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94037543C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.688C>T	7.37:g.94037543C>T	ENSP00000297268:p.Pro230Ser	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.P230S	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		13	1159	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		230					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.688C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814960	0.50527	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.96587	-4.06	5.85	5.85	0.93711	.	0.054541	0.85682	D	0.000000	D	0.95175	0.8436	L	0.41356	1.27	0.58432	D	0.999998	P	0.49635	0.926	P	0.46362	0.514	D	0.94057	0.7323	10	0.38643	T	0.18	.	20.5471	0.99284	0.0:1.0:0.0:0.0	.	230	P08123	CO1A2_HUMAN	S	230;231	ENSP00000297268:P230S	ENSP00000297268:P230S	P	+	1	0	COL1A2	93875479	0.993000	0.37304	0.999000	0.59377	0.625000	0.37756	3.030000	0.49720	2.941000	0.99782	0.655000	0.94253	CCA		0.398	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
TRRAP	8295	broad.mit.edu	37	7	98552870	98552870	+	Silent	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:98552870G>A	ENST00000359863.4	+	40	6068	c.5859G>A	c.(5857-5859)gaG>gaA	p.E1953E	TRRAP_ENST00000355540.3_Silent_p.E1935E|TRRAP_ENST00000446306.3_Silent_p.E1934E	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1953					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.E1935E(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTGTGGAGGAGGGGCACACCG	0.642																																						uc003upp.3																			1	Substitution - coding silent(1)	p.E1935E(1)	central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(5857-5859)gaG>gaA		Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.							50.0	43.0	46.0					7																	98552870		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98552870G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5859G>A	7.37:g.98552870G>A						TRRAP_uc011kis.2_Silent_p.E1935E|TRRAP_uc003upr.3_Silent_p.E1652E	p.E1953E	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		39	6068	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1953					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.5859G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	6.973	0.549459	0.13374	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.56	2.36	0.29203	.	.	.	.	.	T	0.59004	0.2162	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54423	-0.8296	4	.	.	.	.	10.0779	0.42370	0.3011:0.0:0.6989:0.0	.	.	.	.	K	1675	.	.	R	+	2	0	TRRAP	98390806	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	2.901000	0.48695	0.730000	0.32425	-0.136000	0.14681	AGG		0.642	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
RELN	5649	broad.mit.edu	37	7	103191709	103191709	+	Missense_Mutation	SNP	G	G	A	rs368438329		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:103191709G>A	ENST00000428762.1	-	41	6266	c.6107C>T	c.(6106-6108)gCg>gTg	p.A2036V	RELN_ENST00000424685.2_Missense_Mutation_p.A2036V|RELN_ENST00000343529.5_Missense_Mutation_p.A2036V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2036					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACTGGATCCGCGGATGAGCT	0.502																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(6106-6108)gCg>gTg		Homo sapiens reelin (RELN), transcript variant 1, mRNA.		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	56.0	47.0	50.0		6107,6107	6.0	1.0	7		50	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RELN	NM_005045.3,NM_173054.2	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	2036/3461,2036/3459	103191709	1,13005	2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103191709G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6107C>T	7.37:g.103191709G>A	ENSP00000392423:p.Ala2036Val					RELN_uc022ajq.1_Missense_Mutation_p.A2036V|RELN_uc010liz.3_Missense_Mutation_p.A2036V	p.A2036V	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	40	6267	-			2036					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6107C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823536	0.32237	0.0	1.16E-4	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24350	1.86;1.86;1.86	5.96	5.96	0.96718	Neuraminidase (1);	0.265034	0.43416	D	0.000570	T	0.17238	0.0414	L	0.34521	1.04	0.38245	D	0.941433	P;P	0.52061	0.59;0.95	B;B	0.23018	0.016;0.043	T	0.11060	-1.0603	10	0.40728	T	0.16	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	2036;2036	P78509-2;P78509	.;RELN_HUMAN	V	2036	ENSP00000392423:A2036V;ENSP00000345694:A2036V;ENSP00000388446:A2036V	ENSP00000345694:A2036V	A	-	2	0	RELN	102978945	1.000000	0.71417	0.999000	0.59377	0.194000	0.23727	4.784000	0.62411	2.831000	0.97527	0.650000	0.86243	GCG		0.502	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
KEL	3792	broad.mit.edu	37	7	142639989	142639989	+	Silent	SNP	G	G	A	rs367661434		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:142639989G>A	ENST00000355265.2	-	17	2388	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	638					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCCCCCAACGTCTGCAGCAT	0.502																																						uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1912-1914)gaC>gaT		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.		G		0,4406		0,0,2203	103.0	95.0	98.0		1914	-1.9	0.0	7		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KEL	NM_000420.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		638/733	142639989	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142639989G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1914C>T	7.37:g.142639989G>A							p.D638D	NM_000420	NP_000411	P23276	KELL_HUMAN			16	2124	-	Melanoma(164;0.059)		638					B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	c.1914C>T	CCDS34766.1																																																																																				0.502	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
COL22A1	169044	broad.mit.edu	37	8	139606337	139606337	+	Missense_Mutation	SNP	C	C	T	rs200298766		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr8:139606337C>T	ENST00000303045.6	-	63	4984	c.4538G>A	c.(4537-4539)cGg>cAg	p.R1513Q	COL22A1_ENST00000435777.1_Missense_Mutation_p.R1493Q|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1513	Collagen-like 15.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R1513Q(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGCCGGCCCGGCCTGGAAG	0.662										HNSCC(7;0.00092)																												uc003yvd.3																			1	Substitution - Missense(1)	p.R1513Q(2)	ovary(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(4537-4539)cGg>cAg		Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.																																				SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139606337C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4538G>A	8.37:g.139606337C>T	ENSP00000303153:p.Arg1513Gln	HNSCC(7;0.00092)				COL22A1_uc011ljo.2_Missense_Mutation_p.R793Q	p.R1513Q	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		62	4985	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1513			Collagen-like 15.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4538G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573540	0.65765	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93906	-3.31;-3.31	5.92	4.14	0.48551	.	0.138852	0.30930	N	0.008598	D	0.88108	0.6348	N	0.16368	0.405	0.19945	N	0.999945	P;B	0.37083	0.581;0.175	B;B	0.43950	0.437;0.02	T	0.77504	-0.2563	10	0.13470	T	0.59	.	12.0321	0.53403	0.0:0.8609:0.0:0.1391	.	1493;1513	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	Q	1513;1493;1206	ENSP00000303153:R1513Q;ENSP00000387655:R1493Q	ENSP00000303153:R1513Q	R	-	2	0	COL22A1	139675519	0.955000	0.32602	0.476000	0.27291	0.817000	0.46193	3.106000	0.50322	0.861000	0.35504	0.650000	0.86243	CGG		0.662	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
RP11-498P14.3	0	broad.mit.edu	37	9	99960660	99960660	+	lincRNA	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr9:99960660C>T	ENST00000416066.1	-	0	0																											TACAGACAAACGGTTTTTCAC	0.443																																						uc004axd.2																			0											c.(1132-1134)ccG>ccA		Homo sapiens zinc finger protein 322 (ZNF322), transcript variant 2, mRNA.							102.0	155.0	140.0					9																	99960660		1616	4102	5718			387328				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr9:99960660C>T																													9.37:g.99960660C>T						BC070371_uc004axb.2_5'Flank|BC070371_uc004axc.1_5'Flank|AK309476_uc010msl.1_Intron	p.P378P	NM_024639	NP_078915	Q6U7Q0	Z322A_HUMAN			0	1193	-			378						Silent	SNP	ENST00000416066.1	37	c.1134G>A																																																																																					0.443	RP11-498P14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053307.1		
C5	727	broad.mit.edu	37	9	123745005	123745005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr9:123745005C>T	ENST00000223642.1	-	26	3347	c.3318G>A	c.(3316-3318)tgG>tgA	p.W1106*		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1106					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TCTCAACTAGCCACAATAAAG	0.299																																						uc004bkv.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(3316-3318)tgG>tgA		Homo sapiens complement component 5 (C5), mRNA.	Eculizumab(DB01257)						60.0	61.0	60.0					9																	123745005		2202	4284	6486	SO:0001587	stop_gained	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123745005C>T	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3318G>A	9.37:g.123745005C>T	ENSP00000223642:p.Trp1106*						p.W1106*	NM_001735	NP_001726	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	25	3348	-			1106					Q14CJ0|Q27I61	Nonsense_Mutation	SNP	ENST00000223642.1	37	c.3318G>A	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	C	40	8.230429	0.98717	.	.	ENSG00000106804	ENST00000223642	.	.	.	5.42	4.52	0.55395	.	0.062090	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7962	0.57560	0.0:0.9216:0.0:0.0784	.	.	.	.	X	1106	.	ENSP00000223642:W1106X	W	-	3	0	C5	122784826	1.000000	0.71417	0.996000	0.52242	0.754000	0.42855	4.976000	0.63785	1.294000	0.44707	0.484000	0.47621	TGG		0.299	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735	
ACRC	93953	broad.mit.edu	37	X	70823913	70823913	+	Silent	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chrX:70823913G>A	ENST00000373695.1	+	7	1323	c.786G>A	c.(784-786)tcG>tcA	p.S262S	ACRC_ENST00000373696.3_Silent_p.S262S			Q96QF7	ACRC_HUMAN	acidic repeat containing	262	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GTGATGATTCGGAAGCTCCCG	0.552																																						uc004eae.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(784-786)tcG>tcA		Homo sapiens acidic repeat containing (ACRC), mRNA.							19.0	20.0	20.0					X																	70823913		2069	4031	6100	SO:0001819	synonymous_variant	93953					nucleus		g.chrX:70823913G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.786G>A	X.37:g.70823913G>A						BCYRN1_uc011mpt.1_Intron	p.S262S	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			7	1287	+	Renal(35;0.156)		262			Asp/Ser-rich.		B9EG62	Silent	SNP	ENST00000373695.1	37	c.786G>A	CCDS35326.1																																																																																				0.552	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1		
ACRC	93953	broad.mit.edu	37	X	70823943	70823943	+	Silent	SNP	G	G	A	rs368020183		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chrX:70823943G>A	ENST00000373695.1	+	7	1353	c.816G>A	c.(814-816)tcG>tcA	p.S272S	ACRC_ENST00000373696.3_Silent_p.S272S			Q96QF7	ACRC_HUMAN	acidic repeat containing	272	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GTGATGATTCGGAAGCTCCCG	0.557																																						uc004eae.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(814-816)tcG>tcA		Homo sapiens acidic repeat containing (ACRC), mRNA.		G		0,3835		0,0,1632,571	57.0	58.0	57.0		816	0.1	0.0	X		57	1,6718		0,1,2424,1869	no	coding-synonymous	ACRC	NM_052957.4		0,1,4056,2440	AA,AG,GG,G		0.0149,0.0,0.0095		272/692	70823943	1,10553	2203	4294	6497	SO:0001819	synonymous_variant	93953					nucleus		g.chrX:70823943G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.816G>A	X.37:g.70823943G>A						BCYRN1_uc011mpt.1_Intron	p.S272S	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			7	1317	+	Renal(35;0.156)		272			Asp/Ser-rich.		B9EG62	Silent	SNP	ENST00000373695.1	37	c.816G>A	CCDS35326.1																																																																																				0.557	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1		
