#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
EFEMP2	30008	broad.mit.edu	37	11	65637423	65637423	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:65637423G>C	ENST00000307998.6	-	7	862	c.632C>G	c.(631-633)gCc>gGc	p.A211G	EFEMP2_ENST00000528176.1_Missense_Mutation_p.A211G|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	211	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)	p.A211G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CTCGCATGGGGCCCCCATGTC	0.607																																						ENST00000307998.6																			1	Substitution - Missense(1)	p.A211G(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(631-633)gCc>gGc		EGF containing fibulin-like extracellular matrix protein 2							80.0	87.0	85.0					11																	65637423		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65637423G>C	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.632C>G	11.37:g.65637423G>C	ENSP00000309953:p.Ala211Gly					EFEMP2_ENST00000528176.1_Missense_Mutation_p.A211G	p.A211G	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	7	862	-			211			EGF-like 4; calcium-binding (Potential).		A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.632C>G	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308477	0.81247	.	.	ENSG00000172638	ENST00000528176;ENST00000307998	D;T	0.86297	-2.1;-1.42	5.6	5.6	0.85130	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.52532	D	0.000078	T	0.78960	0.4366	N	0.01515	-0.825	0.49130	D	0.999757	D;P	0.56746	0.977;0.798	P;P	0.56474	0.799;0.59	T	0.78753	-0.2081	10	0.11794	T	0.64	.	17.1044	0.86658	0.0:0.0:1.0:0.0	.	211;211	E9PRU1;O95967	.;FBLN4_HUMAN	G	211	ENSP00000434151:A211G;ENSP00000309953:A211G	ENSP00000309953:A211G	A	-	2	0	EFEMP2	65393999	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.206000	0.58473	2.644000	0.89710	0.561000	0.74099	GCC		0.607	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		9	127	0	0	0	0.058154	0	9	127				
PRDM9	56979	broad.mit.edu	37	5	23526359	23526359	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:23526359C>T	ENST00000296682.3	+	11	1344	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	388					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.H388Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GCCAGAGATCCATCCATGTCC	0.438										HNSCC(3;0.000094)																												ENST00000296682.3																			1	Substitution - Missense(1)	p.H388Y(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1162-1164)Cat>Tat		PR domain containing 9							108.0	104.0	105.0					5																	23526359		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526359C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1162C>T	5.37:g.23526359C>T	ENSP00000296682:p.His388Tyr	HNSCC(3;0.000094)					p.H388Y	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1344	+			388					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1162C>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	2.262	-0.369111	0.05069	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.08458	3.09	3.52	1.57	0.23409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.436094	0.16961	N	0.192495	T	0.02119	0.0066	N	0.01751	-0.74	0.22354	N	0.999173	B	0.12013	0.005	B	0.06405	0.002	T	0.45396	-0.9264	10	0.02654	T	1	-7.3769	4.2661	0.10764	0.2259:0.6419:0.0:0.1322	.	388	Q9NQV7	PRDM9_HUMAN	Y	388;182	ENSP00000296682:H388Y	ENSP00000253473:H182Y	H	+	1	0	PRDM9	23562116	0.017000	0.18338	0.416000	0.26546	0.167000	0.22549	-0.028000	0.12350	0.199000	0.20427	0.400000	0.26472	CAT		0.438	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		53	92	0	0	0	0.048971	0	53	92				
MED14	9282	broad.mit.edu	37	X	40572273	40572273	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:40572273C>T	ENST00000324817.1	-	6	792	c.674G>A	c.(673-675)cGt>cAt	p.R225H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	225	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R225H(2)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTTCAACACGAAACTTCAC	0.403																																						ENST00000324817.1																			2	Substitution - Missense(2)	p.R225H(2)	prostate(2)	NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(673-675)cGt>cAt		mediator complex subunit 14							95.0	77.0	83.0					X																	40572273		2203	4300	6503	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40572273C>T	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.674G>A	X.37:g.40572273C>T	ENSP00000323720:p.Arg225His						p.R225H	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN			6	792	-			225			Interaction with STAT2.		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.674G>A	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302966	0.60195	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	N	0.01576	-0.805	0.80722	D	1	P	0.35272	0.493	B	0.32724	0.151	T	0.32241	-0.9914	9	0.35671	T	0.21	.	18.0248	0.89265	0.0:1.0:0.0:0.0	.	225	O60244	MED14_HUMAN	H	225	.	ENSP00000323720:R225H	R	-	2	0	MED14	40457217	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.397000	0.79903	2.279000	0.76181	0.538000	0.68166	CGT		0.403	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		11	3	0	0	0	0.069234	0	11	3				
NTM	50863	broad.mit.edu	37	11	132180059	132180059	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:132180059G>T	ENST00000374786.1	+	5	1194	c.715G>T	c.(715-717)Ggg>Tgg	p.G239W	NTM_ENST00000374791.3_Missense_Mutation_p.G239W|NTM_ENST00000374784.1_Missense_Mutation_p.G239W|NTM_ENST00000539799.1_Missense_Mutation_p.G239W|NTM_ENST00000427481.2_Missense_Mutation_p.G230W|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Missense_Mutation_p.G239W	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	239	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G239W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GGGACAAAAGGGGACACTGCA	0.498																																						ENST00000374786.1																			2	Substitution - Missense(2)	p.G239W(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(715-717)Ggg>Tgg		neurotrimin							151.0	149.0	150.0					11																	132180059		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132180059G>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.715G>T	11.37:g.132180059G>T	ENSP00000363918:p.Gly239Trp					NTM_ENST00000374791.3_Missense_Mutation_p.G239W|NTM_ENST00000539799.1_Missense_Mutation_p.G239W|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Missense_Mutation_p.G239W|NTM_ENST00000427481.2_Missense_Mutation_p.G230W|NTM_ENST00000425719.2_Missense_Mutation_p.G239W	p.G239W	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			5	1194	+			239			Ig-like C2-type 3.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.715G>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862935	0.91511	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	6.07	6.07	0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	D	0.86986	0.6065	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.998;0.997;0.992;0.996;0.995	D	0.87298	0.2303	10	0.72032	D	0.01	-22.5364	20.6439	0.99570	0.0:0.0:1.0:0.0	.	239;230;239;239;239;239	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	W	239;239;230;239;239;239	ENSP00000363923:G239W;ENSP00000437668:G239W;ENSP00000416320:G230W;ENSP00000363918:G239W;ENSP00000396722:G239W;ENSP00000363916:G239W	ENSP00000363916:G239W	G	+	1	0	NTM	131685269	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.884000	0.98904	0.655000	0.94253	GGG		0.498	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		18	169	1	0	5.35267e-07	0.043863	5.78088e-07	18	169				
ZMYM3	9203	broad.mit.edu	37	X	70461111	70461111	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:70461111G>T	ENST00000353904.2	-	24	4073	c.3886C>A	c.(3886-3888)Cct>Act	p.P1296T	ZMYM3_ENST00000373998.1_Missense_Mutation_p.P1284T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P1296T|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P1298T|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P1206T	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1296					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P1296T(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AACTTGACAGGGCAGCGGAGG	0.507																																						ENST00000373998.1																			1	Substitution - Missense(1)	p.P1296T(1)	prostate(1)	breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3850-3852)Cct>Act		zinc finger, MYM-type 3							122.0	98.0	106.0					X																	70461111		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70461111G>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3886C>A	X.37:g.70461111G>T	ENSP00000343909:p.Pro1296Thr					ZMYM3_ENST00000353904.2_Missense_Mutation_p.P1296T|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P1296T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P1206T|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P1298T	p.P1284T	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			24	4547	-	Renal(35;0.156)		1296					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3850C>A	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	18.22	3.576784	0.65878	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.53857	1.19;0.6;1.19;1.23;1.19	4.79	3.93	0.45458	.	0.000000	0.64402	D	0.000004	T	0.70378	0.3217	M	0.73962	2.25	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.73528	-0.3954	10	0.87932	D	0	-8.3833	12.2326	0.54497	0.0844:0.0:0.9155:0.0	.	1284;1296	Q14202-2;Q14202	.;ZMYM3_HUMAN	T	1296;1284;1296;1206;1298	ENSP00000322845:P1296T;ENSP00000363110:P1284T;ENSP00000343909:P1296T;ENSP00000363096:P1206T;ENSP00000363100:P1298T	ENSP00000322845:P1296T	P	-	1	0	ZMYM3	70377836	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.254000	0.95512	1.013000	0.39391	0.583000	0.79449	CCT		0.507	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		5	23	1	0	5.9392e-07	0.021553	6.32994e-07	5	23				
SLC10A2	6555	broad.mit.edu	37	13	103710721	103710721	+	Missense_Mutation	SNP	G	G	T	rs201341384		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr13:103710721G>T	ENST00000245312.3	-	2	985	c.389C>A	c.(388-390)aCc>aAc	p.T130N		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	130					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.T130N(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	GGAGCATGTGGTCATGCTGAC	0.433																																						ENST00000245312.3																			1	Substitution - Missense(1)	p.T130N(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(388-390)aCc>aAc		solute carrier family 10 (sodium/bile acid cotransporter), member 2							106.0	89.0	95.0					13																	103710721		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103710721G>T	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.389C>A	13.37:g.103710721G>T	ENSP00000245312:p.Thr130Asn						p.T130N	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			2	985	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		130					A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.389C>A	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061977	0.93846	.	.	ENSG00000125255	ENST00000245312	T	0.16324	2.35	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77059	-0.2728	10	0.87932	D	0	-28.2764	18.4783	0.90800	0.0:0.0:1.0:0.0	.	130	Q12908	NTCP2_HUMAN	N	130	ENSP00000245312:T130N	ENSP00000245312:T130N	T	-	2	0	SLC10A2	102508722	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.640000	0.98453	2.873000	0.98535	0.563000	0.77884	ACC		0.433	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			5	51	1	0	1.23904e-05	0.014758	1.30341e-05	5	51				
TTN	7273	broad.mit.edu	37	2	179435374	179435374	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr2:179435374C>G	ENST00000591111.1	-	276	70786	c.70562G>C	c.(70561-70563)aGc>aCc	p.S23521T	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S25162T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S16289T|TTN_ENST00000342992.6_Missense_Mutation_p.S22594T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S16222T|TTN_ENST00000460472.2_Missense_Mutation_p.S16097T			Q8WZ42	TITIN_HUMAN	titin	23521	Ig-like 119.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S16097T(2)|p.S22594T(1)|p.S16222T(1)|p.S16289T(1)|p.S22592T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGTCGGTGCTCTTTATTTC	0.408																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.S16097T(2)|p.S22594T(1)|p.S16222T(1)|p.S16289T(1)|p.S22592T(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(75484-75486)aGc>aCc		titin							164.0	149.0	154.0					2																	179435374		1919	4118	6037	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179435374C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70562G>C	2.37:g.179435374C>G	ENSP00000465570:p.Ser23521Thr					TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S16289T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S16097T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S23521T|TTN_ENST00000359218.5_Missense_Mutation_p.S16222T|TTN_ENST00000342992.6_Missense_Mutation_p.S22594T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.S25162T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	75709	-			23521			Fibronectin type-III 83.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.75485G>C		.	.	.	.	.	.	.	.	.	.	C	10.57	1.388248	0.25118	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.63	5.63	0.86233	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48677	0.1513	N	0.11927	0.2	0.40809	D	0.983407	B;B;B;B	0.21071	0.051;0.051;0.051;0.051	B;B;B;B	0.19946	0.027;0.027;0.027;0.027	T	0.50355	-0.8838	9	0.87932	D	0	.	10.4053	0.44254	0.0:0.7937:0.1351:0.0711	.	16097;16222;16289;23521	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	22594;16097;16289;16222;16095	ENSP00000343764:S22594T;ENSP00000434586:S16097T;ENSP00000340554:S16289T;ENSP00000352154:S16222T	ENSP00000340554:S16289T	S	-	2	0	TTN	179143620	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.142000	0.42177	2.799000	0.96334	0.650000	0.86243	AGC		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	71	0	0	0	0.064281	0	36	71				
SLC8B1	80024	broad.mit.edu	37	12	113748108	113748108	+	Silent	SNP	G	G	T	rs138371135		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr12:113748108G>T	ENST00000552014.1	-	13	1703	c.1188C>A	c.(1186-1188)atC>atA	p.I396I	SLC8B1_ENST00000202831.3_Silent_p.I396I|SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000546737.1_Silent_p.I340I|SLC8B1_ENST00000550047.1_5'Flank			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	396					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)	p.I396I(1)									CTGTGCCTGCGATCACCACCA	0.587																																						ENST00000552014.1																			1	Substitution - coding silent(1)	p.I396I(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.(1186-1188)atC>atA									98.0	86.0	90.0					12																	113748108		2203	4300	6503	SO:0001819	synonymous_variant	0				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113748108G>T	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1188C>A	12.37:g.113748108G>T						SLC24A6_ENST00000202831.3_Silent_p.I396I|SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000546737.1_Silent_p.I340I	p.I396I			Q6J4K2	NCKX6_HUMAN			13	1703	-			396					A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Silent	SNP	ENST00000552014.1	37	c.1188C>A	CCDS31909.1																																																																																				0.587	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		50	56	1	0	3.4597e-24	0.048971	3.94698e-24	50	56				
HIST1H2AB	8335	broad.mit.edu	37	6	26033605	26033605	+	Silent	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:26033605C>T	ENST00000259791.2	-	1	191	c.192G>A	c.(190-192)ctG>ctA	p.L64L	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	64						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L64L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CCGCCAGCTCCAGGATCTCGG	0.637																																						ENST00000259791.2																			1	Substitution - coding silent(1)	p.L64L(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(190-192)ctG>ctA		histone cluster 1, H2ab							45.0	48.0	47.0					6																	26033605		2203	4300	6503	SO:0001819	synonymous_variant	8335				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26033605C>T	X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"""Histones / Replication-dependent"""	4734	protein-coding gene	gene with protein product		602795	"""H2A histone family, member M"", ""histone 1, H2ab"""	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.192G>A	6.37:g.26033605C>T							p.L64L	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN			1	191	-			64					P28001|Q76P63	Silent	SNP	ENST00000259791.2	37	c.192G>A	CCDS4574.1																																																																																				0.637	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040082.1	NM_003513		11	56	0	0	0	0.080935	0	11	56				
CYB5R2	51700	broad.mit.edu	37	11	7690490	7690490	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:7690490C>T	ENST00000533558.1	-	5	890	c.334G>A	c.(334-336)Ggg>Agg	p.G112R	CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299498.6_Missense_Mutation_p.G112R|CYB5R2_ENST00000299497.9_Missense_Mutation_p.G112R|CYB5R2_ENST00000524790.1_Missense_Mutation_p.G112R			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	112	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.G112R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGGTCTCCCCGATTTTCATG	0.483																																						ENST00000533558.1																			1	Substitution - Missense(1)	p.G112R(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(334-336)Ggg>Agg		cytochrome b5 reductase 2							155.0	146.0	149.0					11																	7690490		2201	4296	6497	SO:0001583	missense	51700				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	g.chr11:7690490C>T	AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.334G>A	11.37:g.7690490C>T	ENSP00000437041:p.Gly112Arg					CYB5R2_ENST00000299497.9_Missense_Mutation_p.G112R|CYB5R2_ENST00000299498.6_Missense_Mutation_p.G112R|CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000524790.1_Missense_Mutation_p.G112R	p.G112R			Q6BCY4	NB5R2_HUMAN		Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	5	890	-			112			FAD-binding FR-type.		Q9BVA3|Q9UF68|Q9UHJ0	Missense_Mutation	SNP	ENST00000533558.1	37	c.334G>A	CCDS7780.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815040	0.90790	.	.	ENSG00000166394	ENST00000524790;ENST00000299498;ENST00000533558;ENST00000299497;ENST00000531096;ENST00000527542;ENST00000524608;ENST00000436351	D;D;D;D;D;D;D;D	0.97279	-4.32;-4.32;-4.32;-4.32;-4.32;-4.32;-4.32;-4.32	5.37	5.37	0.77165	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	0.100867	0.64402	D	0.000002	D	0.99083	0.9685	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73708	0.969;0.981	D	0.99063	1.0831	10	0.87932	D	0	-16.8903	16.6555	0.85227	0.0:1.0:0.0:0.0	.	112;112	E9PIV9;Q6BCY4	.;NB5R2_HUMAN	R	112;112;112;112;112;112;172;112	ENSP00000435916:G112R;ENSP00000299498:G112R;ENSP00000437041:G112R;ENSP00000299497:G112R;ENSP00000434969:G112R;ENSP00000433856:G112R;ENSP00000432482:G172R;ENSP00000392777:G112R	ENSP00000299497:G112R	G	-	1	0	CYB5R2	7647066	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	5.277000	0.65586	2.793000	0.96121	0.563000	0.77884	GGG		0.483	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229		15	115	0	0	0	0.024245	0	15	115				
SLC25A25	114789	broad.mit.edu	37	9	130854176	130854176	+	Silent	SNP	A	A	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr9:130854176A>G	ENST00000373066.5	+	1	434	c.27A>G	c.(25-27)ctA>ctG	p.L9L	SLC25A25_ENST00000373068.2_Intron|RP11-379C10.4_ENST00000453870.1_RNA|SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000432073.2_Silent_p.L9L	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	0					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.L9L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GGCATTTCCTAGCTAGCTTTT	0.577																																						ENST00000373066.5																			1	Substitution - coding silent(1)	p.L9L(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.(25-27)ctA>ctG		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25							115.0	129.0	125.0					9																	130854176		2039	4197	6236	SO:0001819	synonymous_variant	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130854176A>G	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373066.5:c.27A>G	9.37:g.130854176A>G						SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000373068.2_Intron|RP11-379C10.4_ENST00000453870.1_RNA|SLC25A25_ENST00000432073.2_Silent_p.L9L	p.L9L	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN			1	434	+			0					Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Silent	SNP	ENST00000373066.5	37	c.27A>G	CCDS59146.1																																																																																				0.577	SLC25A25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054406.1	NM_052901		95	161	0	0	0	0.048971	0	95	161				
TBXA2R	6915	broad.mit.edu	37	19	3600542	3600542	+	Missense_Mutation	SNP	C	C	T	rs201738444		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr19:3600542C>T	ENST00000375190.4	-	2	484	c.91G>A	c.(91-93)Gcc>Acc	p.A31T	TBXA2R_ENST00000411851.3_Missense_Mutation_p.A31T|TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000589966.1_Missense_Mutation_p.A31T	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	31					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)	p.A31T(1)		kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	AAGGAGGCGGCGAACCAGGGC	0.697																																						ENST00000375190.4																			1	Substitution - Missense(1)	p.A31T(1)	prostate(1)	kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(91-93)Gcc>Acc		thromboxane A2 receptor	Ridogrel(DB01207)						22.0	29.0	26.0					19																	3600542		2104	4196	6300	SO:0001583	missense	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600542C>T		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.91G>A	19.37:g.3600542C>T	ENSP00000364336:p.Ala31Thr					TBXA2R_ENST00000589966.1_Missense_Mutation_p.A31T|TBXA2R_ENST00000411851.3_Missense_Mutation_p.A31T	p.A31T	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	484	-		Hepatocellular(1079;0.137)	31					O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	c.91G>A	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230395	0.58777	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.36699	1.24;1.24	4.55	-0.769	0.11009	.	0.152670	0.43747	D	0.000533	T	0.16300	0.0392	L	0.27053	0.805	0.35243	D	0.77803	B;P	0.39352	0.046;0.669	B;B	0.27076	0.004;0.076	T	0.26710	-1.0095	10	0.24483	T	0.36	-11.956	8.4517	0.32875	0.4913:0.2645:0.2442:0.0	.	31;31	P21731;E2QRJ2	TA2R_HUMAN;.	T	31	ENSP00000393333:A31T;ENSP00000364336:A31T	ENSP00000364336:A31T	A	-	1	0	TBXA2R	3551542	0.924000	0.31332	0.808000	0.32385	0.738000	0.42128	0.343000	0.19944	-0.195000	0.10382	0.305000	0.20034	GCC		0.697	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			9	23	0	0	0	0.058154	0	9	23				
ASIC2	40	broad.mit.edu	37	17	32483118	32483118	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:32483118T>G	ENST00000359872.6	-	1	1195	c.434A>C	c.(433-435)cAc>cCc	p.H145P		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	145					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.H145P(1)								Amiloride(DB00594)	GGGTTTGTAGTGCTTGAAGTT	0.592																																						ENST00000359872.6																			1	Substitution - Missense(1)	p.H145P(1)	prostate(1)								c.(433-435)cAc>cCc		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						99.0	106.0	104.0					17																	32483118		2134	4258	6392	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483118T>G	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.434A>C	17.37:g.32483118T>G	ENSP00000352934:p.His145Pro						p.H145P	NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN			1	1195	-			145					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.434A>C	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	T	8.730	0.916408	0.17907	.	.	ENSG00000108684	ENST00000359872	T	0.62788	0.0	4.96	4.96	0.65561	.	.	.	.	.	T	0.43765	0.1262	N	0.16903	0.455	0.25616	N	0.986448	B	0.02656	0.0	B	0.08055	0.003	T	0.20140	-1.0284	9	0.31617	T	0.26	.	8.0485	0.30564	0.1806:0.0:0.0:0.8194	.	145	Q16515	ACCN1_HUMAN	P	145	ENSP00000352934:H145P	ENSP00000352934:H145P	H	-	2	0	ACCN1	29507231	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.204000	0.51082	2.069000	0.61940	0.533000	0.62120	CAC		0.592	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		16	132	0	0	0	0.033300	0	16	132				
FUT10	84750	broad.mit.edu	37	8	33246843	33246843	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:33246843C>T	ENST00000327671.5	-	4	1481	c.850G>A	c.(850-852)Gtt>Att	p.V284I	FUT10_ENST00000518672.1_Missense_Mutation_p.V256I|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Missense_Mutation_p.V256I|FUT10_ENST00000335589.3_Missense_Mutation_p.V222I	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	284					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.V284I(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TCATCACAAACTGCATTCTCA	0.468																																						ENST00000327671.5																			1	Substitution - Missense(1)	p.V284I(1)	prostate(1)	cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29						c.(850-852)Gtt>Att		fucosyltransferase 10 (alpha (1,3) fucosyltransferase)							85.0	79.0	81.0					8																	33246843		2203	4300	6503	SO:0001583	missense	84750				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33246843C>T	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.850G>A	8.37:g.33246843C>T	ENSP00000332757:p.Val284Ile					FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Missense_Mutation_p.V256I|FUT10_ENST00000335589.3_Missense_Mutation_p.V222I|FUT10_ENST00000518672.1_Missense_Mutation_p.V256I	p.V284I	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	4	1481	-			284					A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	c.850G>A	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	c	0.806	-0.753804	0.03041	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.25250	1.96;1.96;1.96;1.81	5.22	3.43	0.39272	.	0.301587	0.30277	N	0.009999	T	0.10508	0.0257	N	0.05619	-0.005	0.30280	N	0.791446	B;B;B;B;B;B	0.10296	0.003;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.16289	0.015;0.001;0.003;0.005;0.009;0.004	T	0.31943	-0.9925	10	0.02654	T	1	-1.9925	10.0253	0.42068	0.0:0.8343:0.0:0.1657	.	334;284;256;222;284;326	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	I	284;326;256;256;222	ENSP00000332757:V284I;ENSP00000430428:V256I;ENSP00000429870:V256I;ENSP00000334997:V222I	ENSP00000332757:V284I	V	-	1	0	FUT10	33366385	0.479000	0.25925	0.009000	0.14445	0.740000	0.42216	0.984000	0.29565	0.707000	0.31934	0.552000	0.68991	GTT		0.468	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		8	46	0	0	0	0.038147	0	8	46				
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	lincRNA	SNP	C	C	T	rs367060	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCAGCCTTCCGCCGGGCCAG	0.672													.|||	253	0.0505192	0.115	0.0533	5008	,	,		65734	0.0119		0.0437	False		,,,				2504	0.0082					ENST00000412962.1																			0																																																			0							g.chr1:16946434C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946434C>T														0	1085	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	15	0	0	0	0.014758	0	4	15				
CCDC54	84692	broad.mit.edu	37	3	107096617	107096617	+	Silent	SNP	C	C	T	rs144553244	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr3:107096617C>T	ENST00000261058.1	+	1	430	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	61								p.D61D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATAGTTATGACGGAAAAATGA	0.363													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21297	0.0		0.0	False		,,,				2504	0.0					ENST00000261058.1																			1	Substitution - coding silent(1)	p.D61D(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						c.(181-183)gaC>gaT		coiled-coil domain containing 54							132.0	127.0	129.0					3																	107096617		2203	4300	6503	SO:0001819	synonymous_variant	84692							g.chr3:107096617C>T	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.183C>T	3.37:g.107096617C>T							p.D61D	NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN			1	430	+			61					Q96A43	Silent	SNP	ENST00000261058.1	37	c.183C>T	CCDS2949.1																																																																																				0.363	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		8	89	0	0	0	0.038147	0	8	89				
FAM83H	286077	broad.mit.edu	37	8	144811144	144811144	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:144811144T>C	ENST00000388913.3	-	4	855	c.730A>G	c.(730-732)Agc>Ggc	p.S244G		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	244					biomineral tissue development (GO:0031214)			p.S244G(1)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CACCTGTAGCTCCCACTCATC	0.662																																						ENST00000388913.3																			1	Substitution - Missense(1)	p.S244G(1)	prostate(1)	central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(730-732)Agc>Ggc		family with sequence similarity 83, member H							61.0	74.0	70.0					8																	144811144		2091	4206	6297	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144811144T>C	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.730A>G	8.37:g.144811144T>C	ENSP00000373565:p.Ser244Gly						p.S244G	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		4	855	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		244					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.730A>G	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	t	23.1	4.375347	0.82682	.	.	ENSG00000180921	ENST00000388913	T	0.32515	1.45	4.91	4.91	0.64330	.	0.333887	0.34750	N	0.003708	T	0.48390	0.1497	M	0.76838	2.35	0.24988	N	0.99156	P	0.48162	0.906	P	0.52343	0.696	T	0.49978	-0.8881	10	0.87932	D	0	.	14.0383	0.64658	0.0:0.0:0.0:1.0	.	244	Q6ZRV2	FA83H_HUMAN	G	244	ENSP00000373565:S244G	ENSP00000373565:S244G	S	-	1	0	FAM83H	144883132	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.794000	0.55492	1.970000	0.57323	0.454000	0.30748	AGC		0.662	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		8	108	0	0	0	0.047766	0	8	108				
ARID1B	57492	broad.mit.edu	37	6	157522425	157522425	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:157522425G>A	ENST00000350026.5	+	17	4659	c.4658G>A	c.(4657-4659)cGc>cAc	p.R1553H	ARID1B_ENST00000275248.4_Missense_Mutation_p.R1548H|ARID1B_ENST00000367148.1_Missense_Mutation_p.R1606H|ARID1B_ENST00000346085.5_Missense_Mutation_p.R1566H	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1553	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.R1548H(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTGGAGAACCGCATGTCTCCA	0.622																																						ENST00000346085.5																			1	Substitution - Missense(1)	p.R1548H(1)	prostate(1)	NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4696-4698)cGc>cAc		AT rich interactive domain 1B (SWI1-like)							109.0	109.0	109.0					6																	157522425		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157522425G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4658G>A	6.37:g.157522425G>A	ENSP00000055163:p.Arg1553His					ARID1B_ENST00000367148.1_Missense_Mutation_p.R1606H|ARID1B_ENST00000350026.5_Missense_Mutation_p.R1553H|ARID1B_ENST00000275248.4_Missense_Mutation_p.R1548H	p.R1566H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4698	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1553			Pro-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.4697G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484469	0.63962	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02421	4.61;4.62;4.6;4.6;4.3	4.94	4.94	0.65067	.	0.183542	0.46442	D	0.000292	T	0.06325	0.0163	L	0.41824	1.3	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.959;0.982;0.982	T	0.46275	-0.9203	10	0.52906	T	0.07	.	18.5459	0.91045	0.0:0.0:1.0:0.0	.	1553;1566;1548	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	H	1566;1553;1606;1548;1075	ENSP00000344546:R1566H;ENSP00000055163:R1553H;ENSP00000356116:R1606H;ENSP00000275248:R1548H;ENSP00000412835:R1075H	ENSP00000275248:R1548H	R	+	2	0	ARID1B	157564117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.256000	0.78350	2.459000	0.83118	0.655000	0.94253	CGC		0.622	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		4	168	0	0	0	0.009096	0	4	168				
KCNB1	3745	broad.mit.edu	37	20	47991220	47991220	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr20:47991220G>A	ENST00000371741.4	-	2	1043	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	293					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.R293C(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	ACCACGCGGCGGACATTCTGG	0.542																																						ENST00000371741.4																			1	Substitution - Missense(1)	p.R293C(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(877-879)Cgc>Tgc		potassium voltage-gated channel, Shab-related subfamily, member 1							88.0	82.0	84.0					20																	47991220		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47991220G>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.877C>T	20.37:g.47991220G>A	ENSP00000360806:p.Arg293Cys						p.R293C	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1043	-			293					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.877C>T	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648870	0.67358	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.98419	-4.92	6.02	6.02	0.97574	Ion transport (1);	0.122489	0.52532	D	0.000067	D	0.99177	0.9715	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99482	1.0948	10	0.72032	D	0.01	.	19.1188	0.93353	0.0:0.0:1.0:0.0	.	293	Q14721	KCNB1_HUMAN	C	293;248	ENSP00000360806:R293C	ENSP00000360806:R293C	R	-	1	0	KCNB1	47424627	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	6.528000	0.73807	2.865000	0.98341	0.655000	0.94253	CGC		0.542	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		3	89	0	0	0	0.009096	0	3	89				
ZNF622	90441	broad.mit.edu	37	5	16465318	16465318	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:16465318T>A	ENST00000308683.2	-	1	583	c.457A>T	c.(457-459)Aag>Tag	p.K153*		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	153					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K153*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CTGGCCTCCTTTGCAGGCGCT	0.642																																						ENST00000308683.2																			1	Substitution - Nonsense(1)	p.K153*(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(457-459)Aag>Tag		zinc finger protein 622							75.0	78.0	77.0					5																	16465318		2203	4300	6503	SO:0001587	stop_gained	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16465318T>A	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.457A>T	5.37:g.16465318T>A	ENSP00000310042:p.Lys153*						p.K153*	NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN			1	583	-			153						Nonsense_Mutation	SNP	ENST00000308683.2	37	c.457A>T	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419634	0.83559	.	.	ENSG00000173545	ENST00000308683	.	.	.	4.27	-1.05	0.10036	.	1.882610	0.01917	N	0.040271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.882	6.1335	0.20219	0.0:0.3026:0.2333:0.4641	.	.	.	.	X	153	.	ENSP00000310042:K153X	K	-	1	0	ZNF622	16518318	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.165000	0.09968	-0.520000	0.06435	-1.105000	0.02106	AAG		0.642	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		13	113	0	0	0	0.024245	0	13	113				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	68	0	0	0	0.021553	0	4	68				
SLX4	84464	broad.mit.edu	37	16	3640329	3640329	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr16:3640329G>A	ENST00000294008.3	-	12	3950	c.3310C>T	c.(3310-3312)Cgg>Tgg	p.R1104W		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1104	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.R1104R(1)|p.R1104W(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGCACGGACCGACGCTCTTTG	0.532								Direct reversal of damage																														ENST00000294008.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.R1104R(1)|p.R1104W(1)	prostate(1)|endometrium(1)	breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(3310-3312)Cgg>Tgg	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							115.0	110.0	112.0					16																	3640329		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3640329G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3310C>T	16.37:g.3640329G>A	ENSP00000294008:p.Arg1104Trp						p.R1104W	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	3950	-			1104			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.3310C>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608463	0.46527	.	.	ENSG00000188827	ENST00000294008	T	0.18960	2.18	5.59	-6.26	0.02033	.	0.978990	0.08383	N	0.954247	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	D	0.54047	0.964	B	0.36766	0.232	T	0.34850	-0.9812	10	0.56958	D	0.05	.	7.7788	0.29054	0.0:0.4672:0.2201:0.3126	.	1104	Q8IY92	SLX4_HUMAN	W	1104	ENSP00000294008:R1104W	ENSP00000294008:R1104W	R	-	1	2	SLX4	3580330	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.383000	0.02544	-1.032000	0.03304	-0.262000	0.10625	CGG		0.532	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		5	137	0	0	0	0.021553	0	5	137				
RDM1	201299	broad.mit.edu	37	17	34249537	34249537	+	Intron	SNP	T	T	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:34249537T>G	ENST00000293273.6	-	5	713				RDM1_ENST00000394528.3_Nonstop_Mutation_p.*237Y|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000394529.3_Intron|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000394527.1_3'UTR|RDM1_ENST00000431884.2_Intron|RDM1_ENST00000419453.2_Intron|RDM1_ENST00000430160.2_Nonstop_Mutation_p.*214Y	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1						DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.*237Y(1)		breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTTTATTTGCTTACTGAAACT	0.318								Other identified genes with known or suspected DNA repair function																														ENST00000430160.2																			1	Nonstop extension(1)	p.*237Y(1)	prostate(1)	breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9						c.(640-642)taA>taC	Other identified genes with known or suspected DNA repair function	RAD52 motif 1							89.0	91.0	90.0					17																	34249537		2203	4300	6503	SO:0001627	intron_variant	201299				DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding	g.chr17:34249537T>G	AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"""RNA binding motif (RRM) containing"""	19950	protein-coding gene	gene with protein product		612896	"""RAD52 homolog B (S. cerevisiae)"", ""RAD52 motif 1"""	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.667+43A>C	17.37:g.34249537T>G						RDM1_ENST00000425909.3_Intron|RDM1_ENST00000431884.2_Intron|RDM1_ENST00000394528.3_Nonstop_Mutation_p.*237Y|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000419453.2_Intron|RDM1_ENST00000394529.3_Intron|RDM1_ENST00000394527.1_3'UTR|RDM1_ENST00000293273.6_Intron	p.*214Y			Q8NG50	RDM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	4	1112	-		Ovarian(249;0.17)	0					A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Nonstop_Mutation	SNP	ENST00000293273.6	37	c.642A>C	CCDS11301.1	.	.	.	.	.	.	.	.	.	.	T	1.918	-0.449017	0.04572	.	.	ENSG00000187456	ENST00000430160;ENST00000394528	.	.	.	3.36	1.11	0.20524	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6144	0.22769	0.0:0.2416:0.0:0.7584	.	.	.	.	Y	214;237	.	.	X	-	3	2	RDM1	31273650	0.029000	0.19370	0.001000	0.08648	0.001000	0.01503	-0.135000	0.10420	0.055000	0.16094	-1.811000	0.00612	TAA		0.318	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2	NM_145654		15	94	0	0	0	0.020292	0	15	94				
TSPAN33	340348	broad.mit.edu	37	7	128807390	128807390	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr7:128807390G>A	ENST00000289407.4	+	7	848	c.739G>A	c.(739-741)Gcc>Acc	p.A247T	RP11-286H14.6_ENST00000498745.1_RNA|Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	247					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)	p.A247T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TCTAGGCCTGGCCATCCCCCA	0.507																																						ENST00000289407.4																			1	Substitution - Missense(1)	p.A247T(1)	prostate(1)	NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(739-741)Gcc>Acc		tetraspanin 33							152.0	145.0	147.0					7																	128807390		2203	4300	6503	SO:0001583	missense	340348					integral to membrane		g.chr7:128807390G>A		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"""Tetraspanins"""	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.739G>A	7.37:g.128807390G>A	ENSP00000289407:p.Ala247Thr						p.A247T	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN			7	848	+			247						Missense_Mutation	SNP	ENST00000289407.4	37	c.739G>A	CCDS5810.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597768	0.66332	.	.	ENSG00000158457	ENST00000289407	D	0.81996	-1.56	5.72	5.72	0.89469	.	0.101382	0.64402	D	0.000002	D	0.88314	0.6403	M	0.83953	2.67	0.58432	D	0.99999	B	0.31153	0.31	B	0.41813	0.367	D	0.87937	0.2714	10	0.66056	D	0.02	-0.6054	17.3806	0.87403	0.0:0.0:1.0:0.0	.	247	Q86UF1	TSN33_HUMAN	T	247	ENSP00000289407:A247T	ENSP00000289407:A247T	A	+	1	0	TSPAN33	128594626	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.279000	0.65597	2.709000	0.92574	0.655000	0.94253	GCC		0.507	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		4	137	0	0	0	0.014758	0	4	137				
PCDHGA1	56114	broad.mit.edu	37	5	140711178	140711178	+	Silent	SNP	C	C	T	rs148638556		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:140711178C>T	ENST00000517417.1	+	1	927	c.927C>T	c.(925-927)ttC>ttT	p.F309F	PCDHGA1_ENST00000378105.3_Silent_p.F309F|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	309	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F309F(3)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTAGATTTCGAAGAATACA	0.373																																						ENST00000517417.1																			3	Substitution - coding silent(3)	p.F309F(3)	prostate(2)|large_intestine(1)	breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(925-927)ttC>ttT				C	,	2,4404	4.2+/-10.8	0,2,2201	56.0	57.0	57.0		927,927	-5.8	0.9	5	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PCDHGA1	NM_018912.2,NM_031993.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	309/932,309/824	140711178	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140711178C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.927C>T	5.37:g.140711178C>T						PCDHGA1_ENST00000378105.3_Silent_p.F309F	p.F309F	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	927	+								Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.927C>T	CCDS54922.1																																																																																				0.373	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		6	44	0	0	0	0.021553	0	6	44				
CDK5RAP2	55755	broad.mit.edu	37	9	123171436	123171436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr9:123171436C>A	ENST00000349780.4	-	30	4752	c.4573G>T	c.(4573-4575)Gag>Tag	p.E1525*	CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.E1493*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.E1525*|CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.E1484*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1525					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.E1525*(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAGCGGACCTCCTGGATCAGC	0.612																																						ENST00000349780.4																			1	Substitution - Nonsense(1)	p.E1525*(1)	prostate(1)	breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(4573-4575)Gag>Tag		CDK5 regulatory subunit associated protein 2							186.0	139.0	155.0					9																	123171436		2203	4300	6503	SO:0001587	stop_gained	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123171436C>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4573G>T	9.37:g.123171436C>A	ENSP00000343818:p.Glu1525*					CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.E1484*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.E1493*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.E1525*	p.E1525*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			30	4752	-			1525					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Nonsense_Mutation	SNP	ENST00000349780.4	37	c.4573G>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	37	6.206363	0.97376	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	.	.	.	4.73	4.73	0.59995	.	0.247697	0.28327	N	0.015754	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.606	0.62048	0.0:0.845:0.155:0.0	.	.	.	.	X	1493;1484;1525;1525;919;535;1297	.	ENSP00000341695:E1297X	E	-	1	0	CDK5RAP2	122211257	0.954000	0.32549	0.997000	0.53966	0.576000	0.36127	2.671000	0.46842	2.344000	0.79699	0.467000	0.42956	GAG		0.612	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		5	70	1	0	0.014758	0.014758	0.0153256	5	70				
ZMYM1	79830	broad.mit.edu	37	1	35579021	35579021	+	Silent	SNP	A	A	G	rs567658292		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:35579021A>G	ENST00000373330.1	+	11	1764	c.1590A>G	c.(1588-1590)caA>caG	p.Q530Q	ZMYM1_ENST00000359858.4_Silent_p.Q530Q|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	530						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Q530Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAGAATACCAATTTTGTGATG	0.318													A|||	1	0.000199681	0.0	0.0	5008	,	,		17693	0.0		0.0	False		,,,				2504	0.001					ENST00000373330.1																			1	Substitution - coding silent(1)	p.Q530Q(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(1588-1590)caA>caG		zinc finger, MYM-type 1							110.0	110.0	110.0					1																	35579021		1810	4085	5895	SO:0001819	synonymous_variant	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35579021A>G	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1590A>G	1.37:g.35579021A>G						ZMYM1_ENST00000359858.4_Silent_p.Q530Q|ZMYM1_ENST00000373329.1_3'UTR	p.Q530Q			Q5SVZ6	ZMYM1_HUMAN			11	1764	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	530					D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	37	c.1590A>G	CCDS41302.1																																																																																				0.318	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		16	181	0	0	0	0.043863	0	16	181				
GPR128	84873	broad.mit.edu	37	3	100373726	100373726	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr3:100373726T>C	ENST00000273352.3	+	12	1695	c.1427T>C	c.(1426-1428)aTa>aCa	p.I476T	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.I181T	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	476					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I476T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AATCTGTGCATATCAATGTTG	0.323																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			1	Substitution - Missense(1)	p.I476T(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1426-1428)aTa>aCa		G protein-coupled receptor 128							102.0	97.0	98.0					3																	100373726		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100373726T>C	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1427T>C	3.37:g.100373726T>C	ENSP00000273352:p.Ile476Thr					GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.I181T	p.I476T	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			12	1695	+			476					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1427T>C	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.610012	0.00835	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.42131	0.98;0.98	5.48	-2.52	0.06346	GPCR, family 2-like (1);	1.045180	0.07482	N	0.904019	T	0.25457	0.0619	N	0.16166	0.38	0.09310	N	1	B;B	0.19583	0.037;0.013	B;B	0.21360	0.034;0.008	T	0.26430	-1.0103	10	0.27082	T	0.32	.	11.6476	0.51269	0.0:0.3261:0.0:0.6739	.	181;476	E9PHI0;Q96K78	.;GP128_HUMAN	T	476;181	ENSP00000273352:I476T;ENSP00000419788:I181T	ENSP00000273352:I476T	I	+	2	0	GPR128	101856416	0.000000	0.05858	0.010000	0.14722	0.481000	0.33189	-0.925000	0.03992	-0.623000	0.05618	-0.242000	0.12053	ATA		0.323	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			3	57	0	0	0	0.004672	0	3	57				
COQ6	51004	broad.mit.edu	37	14	74426130	74426130	+	Silent	SNP	T	T	C	rs113814754		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr14:74426130T>C	ENST00000334571.2	+	8	836	c.796T>C	c.(796-798)Ttg>Ctg	p.L266L	ENTPD5_ENST00000557325.1_3'UTR|COQ6_ENST00000394026.4_Silent_p.L241L|COQ6_ENST00000238709.4_Silent_p.L191L|COQ6_ENST00000554920.1_Intron	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	266					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)	p.L266L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		CTCAGACACCTTGAGTTCCTT	0.448																																						ENST00000334571.2																			1	Substitution - coding silent(1)	p.L266L(1)	prostate(1)	breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(796-798)Ttg>Ctg		coenzyme Q6 monooxygenase							244.0	210.0	222.0					14																	74426130		2203	4300	6503	SO:0001819	synonymous_variant	51004				ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr14:74426130T>C	AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"""coenzyme Q6 homolog (yeast)"", ""coenzyme Q6 homolog, monooxygenase (yeast)"", ""coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"""			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.796T>C	14.37:g.74426130T>C						COQ6_ENST00000394026.4_Silent_p.L241L|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000238709.4_Silent_p.L191L|ENTPD5_ENST00000557325.1_3'UTR	p.L266L	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00337)	8	836	+			266					B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Silent	SNP	ENST00000334571.2	37	c.796T>C	CCDS9823.1	.	.	.	.	.	.	.	.	.	.	T	8.566	0.878893	0.17395	.	.	ENSG00000119723	ENST00000557584	.	.	.	5.55	-4.31	0.03698	.	0.841724	0.11086	N	0.601332	T	0.16428	0.0395	.	.	.	0.20764	N	0.999858	B	0.02656	0.0	B	0.04013	0.001	T	0.22068	-1.0227	7	.	.	.	-1.7138	4.4024	0.11393	0.0919:0.3934:0.1268:0.3878	.	274	B7Z8E9	.	P	274	.	.	L	+	2	0	COQ6	73495883	0.002000	0.14202	0.841000	0.33234	0.995000	0.86356	-0.388000	0.07352	-0.994000	0.03463	0.533000	0.62120	CTT		0.448	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1			52	78	0	0	0	0.048971	0	52	78				
DNAJC5B	85479	broad.mit.edu	37	8	67012255	67012255	+	Missense_Mutation	SNP	A	A	T	rs558068876		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:67012255A>T	ENST00000276570.5	+	6	876	c.589A>T	c.(589-591)Aca>Tca	p.T197S	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	197						membrane (GO:0016020)		p.T197S(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAGTTATTGCACAGACTCTTG	0.448																																						ENST00000276570.5																			1	Substitution - Missense(1)	p.T197S(1)	prostate(1)	endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20						c.(589-591)Aca>Tca		DnaJ (Hsp40) homolog, subfamily C, member 5 beta							103.0	94.0	97.0					8																	67012255		2203	4300	6503	SO:0001583	missense	85479				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr8:67012255A>T	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.589A>T	8.37:g.67012255A>T	ENSP00000276570:p.Thr197Ser					DNAJC5B_ENST00000519330.1_3'UTR	p.T197S	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		6	876	+		Lung NSC(129;0.114)|all_lung(136;0.188)	197					Q969Y8	Missense_Mutation	SNP	ENST00000276570.5	37	c.589A>T	CCDS6183.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.496448	0.64186	.	.	ENSG00000147570	ENST00000276570	T	0.72167	-0.63	5.96	4.8	0.61643	.	0.064962	0.64402	D	0.000019	T	0.63792	0.2541	L	0.56199	1.76	0.32165	N	0.582374	P	0.41624	0.757	B	0.39185	0.293	T	0.75001	-0.3471	10	0.66056	D	0.02	.	9.1036	0.36685	0.9156:0.0:0.0844:0.0	.	197	Q9UF47	DNJ5B_HUMAN	S	197	ENSP00000276570:T197S	ENSP00000276570:T197S	T	+	1	0	DNAJC5B	67174809	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	2.486000	0.45259	2.277000	0.76020	0.528000	0.53228	ACA		0.448	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105		4	24	0	0	0	0.014758	0	4	24				
OR4D5	219875	broad.mit.edu	37	11	123811134	123811134	+	Missense_Mutation	SNP	G	G	A	rs564572858		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:123811134G>A	ENST00000307033.2	+	1	885	c.811G>A	c.(811-813)Gtc>Atc	p.V271I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V271I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACAAGGCCGTCTCTGTGCT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		22065	0.0		0.0	False		,,,				2504	0.001					ENST00000307033.2																			1	Substitution - Missense(1)	p.V271I(1)	prostate(1)	autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(811-813)Gtc>Atc		olfactory receptor, family 4, subfamily D, member 5							161.0	131.0	141.0					11																	123811134		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811134G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.811G>A	11.37:g.123811134G>A	ENSP00000305970:p.Val271Ile						p.V271I	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	885	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	271					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.811G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	8.169	0.791230	0.16258	.	.	ENSG00000171014	ENST00000307033	T	0.36878	1.23	5.49	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000538	T	0.25344	0.0616	L	0.37850	1.14	0.09310	N	1	B	0.14438	0.01	B	0.24006	0.05	T	0.16394	-1.0404	10	0.29301	T	0.29	-13.4657	7.0729	0.25189	0.1492:0.2545:0.5963:0.0	.	271	Q8NGN0	OR4D5_HUMAN	I	271	ENSP00000305970:V271I	ENSP00000305970:V271I	V	+	1	0	OR4D5	123316344	0.000000	0.05858	0.168000	0.22838	0.830000	0.47004	0.194000	0.17135	0.658000	0.30925	0.650000	0.86243	GTC		0.493	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		36	140	0	0	0	0.069456	0	36	140				
ZMYM3	9203	broad.mit.edu	37	X	70461110	70461110	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:70461110G>C	ENST00000353904.2	-	24	4074	c.3887C>G	c.(3886-3888)cCt>cGt	p.P1296R	ZMYM3_ENST00000373998.1_Missense_Mutation_p.P1284R|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P1296R|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P1298R|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P1206R	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1296					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P1296R(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GAACTTGACAGGGCAGCGGAG	0.512																																						ENST00000373998.1																			1	Substitution - Missense(1)	p.P1296R(1)	prostate(1)	breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3850-3852)cCt>cGt		zinc finger, MYM-type 3							122.0	98.0	106.0					X																	70461110		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70461110G>C	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3887C>G	X.37:g.70461110G>C	ENSP00000343909:p.Pro1296Arg					ZMYM3_ENST00000353904.2_Missense_Mutation_p.P1296R|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P1296R|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P1206R|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P1298R	p.P1284R	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			24	4548	-	Renal(35;0.156)		1296					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3851C>G	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.958607	0.74016	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.54279	1.17;0.58;1.17;1.21;1.17	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000004	T	0.72906	0.3519	M	0.73962	2.25	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77427	-0.2592	10	0.87932	D	0	-8.3833	17.073	0.86579	0.0:0.0:1.0:0.0	.	1284;1296	Q14202-2;Q14202	.;ZMYM3_HUMAN	R	1296;1284;1296;1206;1298	ENSP00000322845:P1296R;ENSP00000363110:P1284R;ENSP00000343909:P1296R;ENSP00000363096:P1206R;ENSP00000363100:P1298R	ENSP00000322845:P1296R	P	-	2	0	ZMYM3	70377835	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.254000	0.95512	2.209000	0.71365	0.583000	0.79449	CCT		0.512	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		5	23	0	0	0	0.021553	0	5	23				
SYCP1	6847	broad.mit.edu	37	1	115454198	115454198	+	Silent	SNP	C	C	T	rs148948913	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:115454198C>T	ENST00000369522.3	+	18	1764	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	SYCP1_ENST00000369518.1_Silent_p.N508N	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	508				IQLTAITTSEQYYSKEVKDLKTELENEK -> YSYCHYHKW TVLPKRGQRPKLSSKRE (in Ref. 2; BAA22586). {ECO:0000305}.	chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.N508N(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTTGAAAACGAGAAGTATG	0.249													T|||	2	0.000399361	0.0015	0.0	5008	,	,		13609	0.0		0.0	False		,,,				2504	0.0					ENST00000369522.3																		RGS22/SYCP1(2)	1	Substitution - coding silent(1)	p.N508N(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1522-1524)aaC>aaT		synaptonemal complex protein 1		T		17,4387	812.1+/-416.1	0,17,2185	60.0	60.0	60.0		1524	-0.3	1.0	1	dbSNP_134	60	1,8573	809.3+/-407.2	0,1,4286	no	coding-synonymous	SYCP1	NM_003176.2		0,18,6471	TT,TC,CC		0.0117,0.386,0.1387		508/977	115454198	18,12960	2202	4287	6489	SO:0001819	synonymous_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115454198C>T	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1524C>T	1.37:g.115454198C>T						SYCP1_ENST00000369518.1_Silent_p.N508N	p.N508N	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	18	1764	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	508	IQLTAITTSEQYYSKEVKDLKTELENEK -> YSYCHYHKW TVLPKRGQRPKLSSKRE (in Ref. 2; BAA22586).				O14963|Q5VXJ6	Silent	SNP	ENST00000369522.3	37	c.1524C>T	CCDS879.1																																																																																				0.249	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		19	20	0	0	0	0.043863	0	19	20				
TTN	7273	broad.mit.edu	37	2	179412022	179412022	+	Silent	SNP	G	G	A	rs373502790		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr2:179412022G>A	ENST00000591111.1	-	290	89531	c.89307C>T	c.(89305-89307)agC>agT	p.S29769S	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.S31410S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.S22537S|TTN_ENST00000342992.6_Silent_p.S28842S|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.S22470S|TTN_ENST00000460472.2_Silent_p.S22345S			Q8WZ42	TITIN_HUMAN	titin	29769					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S22345S(2)|p.S22470S(1)|p.S28840S(1)|p.S22537S(1)|p.S28842S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTAGGAGCGCTTGGTGGGA	0.378																																						ENST00000589042.1																			6	Substitution - coding silent(6)	p.S22345S(2)|p.S22470S(1)|p.S28840S(1)|p.S22537S(1)|p.S28842S(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(94228-94230)agC>agT		titin		G	,,,	0,3710		0,0,1855	88.0	83.0	85.0		67035,86526,67410,67611	-0.5	1.0	2		85	1,8205		0,1,4102	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5957	AA,AG,GG		0.0122,0.0,0.0084	,,,	22345/26927,28842/33424,22470/27052,22537/27119	179412022	1,11915	1855	4103	5958	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412022G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89307C>T	2.37:g.179412022G>A						TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.S22537S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.S22345S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.S29769S|TTN_ENST00000359218.5_Silent_p.S22470S|TTN_ENST00000342992.6_Silent_p.S28842S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.S31410S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		340	94454	-			29769			Fibronectin type-III 129.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.94230C>T																																																																																					0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	111	0	0	0	0.028581	0	17	111				
PKHD1	5314	broad.mit.edu	37	6	51915071	51915071	+	Silent	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:51915071C>T	ENST00000371117.3	-	22	2438	c.2163G>A	c.(2161-2163)acG>acA	p.T721T	PKHD1_ENST00000340994.4_Silent_p.T721T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	721					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.T721T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGGGCGAGCCGTTCCAGAAT	0.537											OREG0017493	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371117.3																			1	Substitution - coding silent(1)	p.T721T(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(2161-2163)acG>acA		polycystic kidney and hepatic disease 1 (autosomal recessive)							62.0	63.0	63.0					6																	51915071		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51915071C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2163G>A	6.37:g.51915071C>T			OREG0017493	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	981	PKHD1_ENST00000340994.4_Silent_p.T721T	p.T721T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			22	2438	-	Lung NSC(77;0.0605)		721					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.2163G>A	CCDS4935.1																																																																																				0.537	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		7	92	0	0	0	0.038147	0	7	92				
DVL1	1855	broad.mit.edu	37	1	1271546	1271546	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:1271546G>A	ENST00000378888.5	-	15	2348	c.2064C>T	c.(2062-2064)tgC>tgT	p.C688C	DVL1_ENST00000378891.5_Silent_p.C663C			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	688					axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)	p.C663C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGAAGAACTCGCAGGGGTTCC	0.692																																						ENST00000378888.5																			1	Substitution - coding silent(1)	p.C663C(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(2062-2064)tgC>tgT		dishevelled segment polarity protein 1																																				SO:0001819	synonymous_variant	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1271546G>A	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.2064C>T	1.37:g.1271546G>A						DVL1_ENST00000378891.5_Silent_p.C663C	p.C688C			O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	15	2348	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	688					Q5TA33|Q5TA35	Silent	SNP	ENST00000378888.5	37	c.2064C>T																																																																																					0.692	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		3	11	0	0	0	0.014758	0	3	11				
SRPK1	6732	broad.mit.edu	37	6	35810383	35810383	+	Splice_Site	SNP	T	T	A	rs372527508|rs371577081	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:35810383T>A	ENST00000373825.2	-	14	1906		c.e14-2		SRPK1_ENST00000423325.2_Splice_Site|SRPK1_ENST00000373822.1_Splice_Site					SRSF protein kinase 1									p.?(2)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCAAAGGCCTAAAAAAAAAA	0.418																																					NSCLC(31;67 978 16289 24856 26454)	ENST00000373825.2																			2	Unknown(2)	p.?(2)	prostate(2)	endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.e14-2		SRSF protein kinase 1							55.0	50.0	52.0					6																	35810383		1838	4093	5931	SO:0001630	splice_region_variant	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35810383T>A	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1621-2A>T	6.37:g.35810383T>A						SRPK1_ENST00000423325.2_Splice_Site|SRPK1_ENST00000373822.1_Splice_Site				Q96SB4	SRPK1_HUMAN			14	1906	-									Splice_Site	SNP	ENST00000373825.2	37		CCDS47415.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331210	0.81690	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1951	0.73081	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SRPK1	35918361	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	7.651000	0.83577	2.051000	0.60960	0.402000	0.26972	.		0.418	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137	Intron	3	45	0	0	0	0.009096	0	3	45				
NIPBL	25836	broad.mit.edu	37	5	37038824	37038824	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:37038824T>A	ENST00000282516.8	+	34	6591	c.6092T>A	c.(6091-6093)cTt>cAt	p.L2031H	NIPBL_ENST00000448238.2_Missense_Mutation_p.L2031H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2031					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.L2031H(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAACCATACCTTACCACTAAA	0.348																																						ENST00000282516.8																			2	Substitution - Missense(2)	p.L2031H(2)	prostate(2)	autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(6091-6093)cTt>cAt		Nipped-B homolog (Drosophila)							89.0	81.0	84.0					5																	37038824		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37038824T>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6092T>A	5.37:g.37038824T>A	ENSP00000282516:p.Leu2031His					NIPBL_ENST00000448238.2_Missense_Mutation_p.L2031H	p.L2031H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		34	6591	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2031					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.6092T>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234359	0.79800	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.75367	-0.93;-0.93	4.95	4.95	0.65309	Armadillo-like helical (1);Armadillo-type fold (1);	0.146527	0.47093	D	0.000258	D	0.87884	0.6290	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90050	0.4148	10	0.62326	D	0.03	-1.4723	14.9013	0.70681	0.0:0.0:0.0:1.0	.	2031;2031	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	2031	ENSP00000282516:L2031H;ENSP00000406266:L2031H	ENSP00000282516:L2031H	L	+	2	0	NIPBL	37074581	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.648000	0.83479	1.970000	0.57323	0.528000	0.53228	CTT		0.348	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		5	51	0	0	0	0.014758	0	5	51				
ZNF576	79177	broad.mit.edu	37	19	44103050	44103050	+	Silent	SNP	T	T	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr19:44103050T>C	ENST00000336564.4	+	3	307	c.153T>C	c.(151-153)cgT>cgC	p.R51R	SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000525771.1_Silent_p.R51R|IRGQ_ENST00000422989.1_5'Flank|ZNF576_ENST00000391965.2_Silent_p.R51R|ZNF576_ENST00000528387.1_Silent_p.R51R|ZNF576_ENST00000533118.1_Silent_p.R51R|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000529930.1_Silent_p.R51R	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	51					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R51R(1)		endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				TCCAGGAGCGTCACATGAAGC	0.647																																						ENST00000336564.4																			1	Substitution - coding silent(1)	p.R51R(1)	prostate(1)	endometrium(1)|prostate(1)	2						c.(151-153)cgT>cgC		zinc finger protein 576							78.0	91.0	87.0					19																	44103050		2203	4300	6503	SO:0001819	synonymous_variant	79177				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44103050T>C	AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"""Zinc fingers, C2H2-type"""	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.153T>C	19.37:g.44103050T>C						ZNF576_ENST00000528387.1_Silent_p.R51R|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000525771.1_Silent_p.R51R|ZNF576_ENST00000533118.1_Silent_p.R51R|ZNF576_ENST00000529930.1_Silent_p.R51R|ZNF576_ENST00000391965.2_Silent_p.R51R|SRRM5_ENST00000526798.1_Intron	p.R51R	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN			3	307	+		Prostate(69;0.0199)	51					Q9BU03	Silent	SNP	ENST00000336564.4	37	c.153T>C	CCDS12625.1																																																																																				0.647	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	NM_024327		4	143	0	0	0	0.021553	0	4	143				
OR10K2	391107	broad.mit.edu	37	1	158390384	158390384	+	Silent	SNP	G	G	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:158390384G>T	ENST00000314902.2	-	1	272	c.273C>A	c.(271-273)acC>acA	p.T91T		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T91T(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGAAAGAAATGGTCTTCTTCT	0.478																																						ENST00000314902.2																			1	Substitution - coding silent(1)	p.T91T(1)	prostate(1)	NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(271-273)acC>acA		olfactory receptor, family 10, subfamily K, member 2							180.0	175.0	177.0					1																	158390384		2203	4298	6501	SO:0001819	synonymous_variant	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390384G>T	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.273C>A	1.37:g.158390384G>T							p.T91T	NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN			1	272	-	all_hematologic(112;0.0378)		91						Silent	SNP	ENST00000314902.2	37	c.273C>A	CCDS30896.1																																																																																				0.478	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		17	262	1	0	9.16793e-09	0.033300	1.01726e-08	17	262				
NFASC	23114	broad.mit.edu	37	1	204985573	204985573	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:204985573G>A	ENST00000401399.1	+	29	3828	c.3629G>A	c.(3628-3630)gGc>gAc	p.G1210D	NFASC_ENST00000404076.1_Missense_Mutation_p.G1127D|NFASC_ENST00000367171.4_Missense_Mutation_p.G1302D|NFASC_ENST00000338586.6_Missense_Mutation_p.G1194D|NFASC_ENST00000539706.1_Missense_Mutation_p.G1144D|NFASC_ENST00000367172.4_Missense_Mutation_p.G1317D|NFASC_ENST00000360049.4_Missense_Mutation_p.G1139D|NFASC_ENST00000339876.6_Missense_Mutation_p.G1210D|NFASC_ENST00000513543.1_Missense_Mutation_p.G1139D|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000338515.6_Missense_Mutation_p.G1227D|NFASC_ENST00000367169.4_Missense_Mutation_p.G1041D|NFASC_ENST00000404907.1_Missense_Mutation_p.G1144D|NFASC_ENST00000367170.4_Missense_Mutation_p.G1238D			O94856	NFASC_HUMAN	neurofascin	1317					axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.G1139D(1)|p.G1210D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCCTTCATCGGCCAGTACACG	0.562																																						ENST00000367172.4																			2	Substitution - Missense(2)	p.G1139D(1)|p.G1210D(1)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(3949-3951)gGc>gAc		neurofascin							183.0	162.0	169.0					1																	204985573		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204985573G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3629G>A	1.37:g.204985573G>A	ENSP00000385637:p.Gly1210Asp					NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000338515.6_Missense_Mutation_p.G1227D|NFASC_ENST00000367171.4_Missense_Mutation_p.G1302D|NFASC_ENST00000367170.4_Missense_Mutation_p.G1238D|NFASC_ENST00000404076.1_Missense_Mutation_p.G1127D|NFASC_ENST00000339876.6_Missense_Mutation_p.G1210D|NFASC_ENST00000539706.1_Missense_Mutation_p.G1144D|NFASC_ENST00000360049.4_Missense_Mutation_p.G1139D|NFASC_ENST00000404907.1_Missense_Mutation_p.G1144D|NFASC_ENST00000338586.6_Missense_Mutation_p.G1194D|NFASC_ENST00000513543.1_Missense_Mutation_p.G1139D|NFASC_ENST00000401399.1_Missense_Mutation_p.G1210D|NFASC_ENST00000367169.4_Missense_Mutation_p.G1041D	p.G1317D			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		32	4278	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		1317					B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.3950G>A	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.275914|5.275914	0.95459|0.95459	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173;ENST00000425360|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393;ENST00000447819	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89343	.|-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.000000	.|0.52532	.|D	.|0.000080	D|D	0.94794|0.94794	0.8319|0.8319	M|M	0.81497|0.81497	2.545|2.545	0.41277|0.41277	D|D	0.986882|0.986882	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.996;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;0.996;0.997;0.999;1.0	D|D	0.95412|0.95412	0.8499|0.8499	5|10	.|0.87932	.|D	.|0	.|.	18.6493|18.6493	0.91425|0.91425	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1317;1159;1144;1194;1036;1210;1139	.|O94856;O94856-11;O94856-8;F8W8X7;O94856-4;O94856-9;O94856-3	.|NFASC_HUMAN;.;.;.;.;.;.	T|D	1011;268|1317;1302;1238;1227;1210;1194;1159;1144;1139;1041;1127;1210;1144;1139;1135;188	.|ENSP00000356140:G1317D;ENSP00000356139:G1302D;ENSP00000356138:G1238D;ENSP00000342128:G1227D;ENSP00000344786:G1210D;ENSP00000343509:G1194D;ENSP00000438614:G1144D;ENSP00000353154:G1139D;ENSP00000356137:G1041D;ENSP00000385676:G1127D;ENSP00000385637:G1210D;ENSP00000384061:G1144D;ENSP00000425908:G1139D;ENSP00000415031:G1135D;ENSP00000416891:G188D	.|ENSP00000295776:G1159D	A|G	+|+	1|2	0|0	NFASC|NFASC	203252196|203252196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.835000|9.835000	0.99442|0.99442	2.484000|2.484000	0.83849|0.83849	0.563000|0.563000	0.77884|0.77884	GCC|GGC		0.562	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		4	128	0	0	0	0.009096	0	4	128				
BHMT	635	broad.mit.edu	37	5	78415119	78415119	+	Silent	SNP	A	A	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:78415119A>T	ENST00000274353.5	+	3	311	c.204A>T	c.(202-204)tcA>tcT	p.S68S	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	68	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.S68S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GAGCTGGCTCAAACGTCATGC	0.448																																						ENST00000274353.5																			1	Substitution - coding silent(1)	p.S68S(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29						c.(202-204)tcA>tcT		betaine--homocysteine S-methyltransferase	L-Methionine(DB00134)						110.0	103.0	105.0					5																	78415119		2203	4300	6503	SO:0001819	synonymous_variant	635				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78415119A>T	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.204A>T	5.37:g.78415119A>T						DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Intron	p.S68S	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	3	311	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	68			Hcy-binding.		Q9UNI9	Silent	SNP	ENST00000274353.5	37	c.204A>T	CCDS4046.1																																																																																				0.448	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		33	41	0	0	0	0.069456	0	33	41				
KIAA1551	55196	broad.mit.edu	37	12	32134717	32134717	+	Silent	SNP	A	A	G	rs550353898	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr12:32134717A>G	ENST00000312561.4	+	4	1242	c.828A>G	c.(826-828)agA>agG	p.R276R	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	276								p.R276R(1)									CTGACAAAAGACCTCCTCCTC	0.418																																						ENST00000312561.4																			1	Substitution - coding silent(1)	p.R276R(1)	prostate(1)								c.(826-828)agA>agG		KIAA1551							95.0	93.0	94.0					12																	32134717		2203	4300	6503	SO:0001819	synonymous_variant	55196							g.chr12:32134717A>G	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.828A>G	12.37:g.32134717A>G						KIAA1551_ENST00000535596.1_Intron	p.R276R	NM_018169.3	NP_060639.3					4	1242	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	c.828A>G	CCDS8725.2																																																																																				0.418	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		5	94	0	0	0	0.014758	0	5	94				
ATG10	83734	broad.mit.edu	37	5	81354375	81354375	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:81354375C>G	ENST00000282185.3	+	3	464	c.170C>G	c.(169-171)tCa>tGa	p.S57*	ATG10_ENST00000513443.1_Nonsense_Mutation_p.S57*|ATG10_ENST00000458350.3_Nonsense_Mutation_p.S57*|ATG10_ENST00000355178.4_Nonsense_Mutation_p.S57*|ATG10_ENST00000513634.1_Nonsense_Mutation_p.S57*	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	57					autophagy (GO:0006914)|autophagy in response to ER overload (GO:0034263)|positive regulation of protein modification process (GO:0031401)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	Atg12 ligase activity (GO:0019777)	p.S57*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		TCTGTGATGTCACATCTAGGA	0.373																																						ENST00000282185.3																			1	Substitution - Nonsense(1)	p.S57*(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9						c.(169-171)tCa>tGa		autophagy related 10							183.0	183.0	183.0					5																	81354375		2203	4300	6503	SO:0001587	stop_gained	83734				autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding	g.chr5:81354375C>G	AK024016	CCDS4057.1	5q14.1	2014-02-12	2012-06-06	2005-09-11	ENSG00000152348	ENSG00000152348			20315	protein-coding gene	gene with protein product		610800	"""APG10 autophagy 10-like (S. cerevisiae)"", ""ATG10 autophagy related 10 homolog (S. cerevisiae)"""	APG10L			Standard	NM_031482		Approved	DKFZP586I0418, FLJ13954	uc003khr.3	Q9H0Y0	OTTHUMG00000119041	ENST00000282185.3:c.170C>G	5.37:g.81354375C>G	ENSP00000282185:p.Ser57*					ATG10_ENST00000513443.1_Nonsense_Mutation_p.S57*|ATG10_ENST00000513634.1_Nonsense_Mutation_p.S57*|ATG10_ENST00000458350.3_Nonsense_Mutation_p.S57*|ATG10_ENST00000355178.4_Nonsense_Mutation_p.S57*	p.S57*	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)	3	464	+		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)	57					B2RE09|Q6PIX1|Q9H842	Nonsense_Mutation	SNP	ENST00000282185.3	37	c.170C>G	CCDS4057.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263119	0.95399	.	.	ENSG00000152348	ENST00000355178;ENST00000282185;ENST00000458350;ENST00000513443;ENST00000513634	.	.	.	5.47	5.47	0.80525	.	1.156020	0.06239	N	0.690087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	15.1879	0.73020	0.0:1.0:0.0:0.0	.	.	.	.	X	57	.	ENSP00000282185:S57X	S	+	2	0	ATG10	81390131	0.015000	0.18098	0.012000	0.15200	0.010000	0.07245	3.290000	0.51755	2.729000	0.93468	0.557000	0.71058	TCA		0.373	ATG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239252.2	NM_001131028		28	227	0	0	0	0.037714	0	28	227				
FAM193A	8603	broad.mit.edu	37	4	2648484	2648484	+	Silent	SNP	C	C	T	rs562276379	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr4:2648484C>T	ENST00000324666.5	+	5	714	c.363C>T	c.(361-363)tcC>tcT	p.S121S	FAM193A_ENST00000382839.3_Silent_p.S121S|FAM193A_ENST00000502458.1_Silent_p.S121S|FAM193A_ENST00000505311.1_Silent_p.S121S|FAM193A_ENST00000545951.1_Silent_p.S121S	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	121								p.S121S(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ACCAGCGTTCCGAGGAGGAGC	0.597													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20723	0.0		0.0	False		,,,				2504	0.0					ENST00000324666.5																			1	Substitution - coding silent(1)	p.S121S(1)	prostate(1)	NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(361-363)tcC>tcT		family with sequence similarity 193, member A							146.0	136.0	139.0					4																	2648484		2203	4300	6503	SO:0001819	synonymous_variant	8603							g.chr4:2648484C>T	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.363C>T	4.37:g.2648484C>T						FAM193A_ENST00000382839.3_Silent_p.S121S|FAM193A_ENST00000545951.1_Silent_p.S121S|FAM193A_ENST00000505311.1_Silent_p.S121S|FAM193A_ENST00000502458.1_Silent_p.S121S	p.S121S	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			5	714	+			121					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Silent	SNP	ENST00000324666.5	37	c.363C>T	CCDS58875.1																																																																																				0.597	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		10	142	0	0	0	0.058154	0	10	142				
P4HTM	54681	broad.mit.edu	37	3	49028271	49028271	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr3:49028271G>A	ENST00000383729.4	+	2	731	c.360G>A	c.(358-360)ggG>ggA	p.G120G	P4HTM_ENST00000343546.4_Silent_p.G120G|RP13-131K19.2_ENST00000452042.1_RNA|P4HTM_ENST00000609406.1_3'UTR	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	120						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.G120G(2)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CTTAGGTGGGGCACGAGCGTA	0.662																																						ENST00000343546.4																			2	Substitution - coding silent(2)	p.G120G(2)	prostate(2)	NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(358-360)ggG>ggA		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)						55.0	39.0	44.0					3																	49028271		2203	4300	6503	SO:0001819	synonymous_variant	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49028271G>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.360G>A	3.37:g.49028271G>A						P4HTM_ENST00000383729.4_Silent_p.G120G|P4HTM_ENST00000468374.1_3'UTR	p.G120G	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			2	728	+			120					Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Silent	SNP	ENST00000383729.4	37	c.360G>A	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512447	0.27123	.	.	ENSG00000178467	ENST00000444213	.	.	.	4.33	0.998	0.19857	.	.	.	.	.	T	0.41811	0.1175	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24225	-1.0166	4	.	.	.	-24.3214	1.0209	0.01517	0.2871:0.2856:0.2905:0.1368	.	.	.	.	T	72	.	.	A	+	1	0	P4HTM	49003275	0.903000	0.30736	0.983000	0.44433	0.958000	0.62258	-0.043000	0.12043	0.183000	0.20059	0.462000	0.41574	GCA		0.662	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		3	26	0	0	0	0.004672	0	3	26				
ABCC11	85320	broad.mit.edu	37	16	48258247	48258247	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr16:48258247C>G	ENST00000394747.1	-	4	838	c.489G>C	c.(487-489)ttG>ttC	p.L163F	ABCC11_ENST00000356608.2_Missense_Mutation_p.L163F|ABCC11_ENST00000353782.5_Missense_Mutation_p.L163F|ABCC11_ENST00000394748.1_Missense_Mutation_p.L163F|ABCC11_ENST00000537808.1_Missense_Mutation_p.L163F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	163	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.L163F(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CATCGAAAATCAACCTTGTTC	0.507																																						ENST00000394747.1																			2	Substitution - Missense(2)	p.L163F(2)	large_intestine(1)|prostate(1)	breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(487-489)ttG>ttC		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							125.0	104.0	111.0					16																	48258247		2200	4300	6500	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48258247C>G	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.489G>C	16.37:g.48258247C>G	ENSP00000378230:p.Leu163Phe					ABCC11_ENST00000537808.1_Missense_Mutation_p.L163F|ABCC11_ENST00000356608.2_Missense_Mutation_p.L163F|ABCC11_ENST00000394748.1_Missense_Mutation_p.L163F|ABCC11_ENST00000353782.5_Missense_Mutation_p.L163F	p.L163F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			4	838	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	163			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.489G>C	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	9.728	1.161510	0.21538	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	4.39	0.942	0.19525	ABC transporter, transmembrane domain, type 1 (1);	0.932371	0.09020	N	0.860290	T	0.32704	0.0838	N	0.11560	0.145	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.0;0.004	T	0.16689	-1.0394	10	0.05620	T	0.96	0.3991	10.222	0.43203	0.7573:0.2427:0.0:0.0	.	163;163	Q96J66-2;Q96J66	.;ABCCB_HUMAN	F	163	ENSP00000311326:L163F;ENSP00000349017:L163F;ENSP00000378231:L163F;ENSP00000378230:L163F;ENSP00000438530:L163F	ENSP00000311326:L163F	L	-	3	2	ABCC11	46815748	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	0.308000	0.19314	-0.051000	0.13334	0.460000	0.39030	TTG		0.507	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		8	25	0	0	0	0.038147	0	8	25				
OR5T2	219464	broad.mit.edu	37	11	55999741	55999741	+	Silent	SNP	C	C	T	rs201143815		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:55999741C>T	ENST00000313264.4	-	1	996	c.921G>A	c.(919-921)tcG>tcA	p.S307S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S307S(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGTCATGGTCCGAAGCATAGC	0.408																																						ENST00000313264.4																			1	Substitution - coding silent(1)	p.S307S(1)	prostate(1)	endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(919-921)tcG>tcA		olfactory receptor, family 5, subfamily T, member 2							196.0	172.0	180.0					11																	55999741		2201	4296	6497	SO:0001819	synonymous_variant	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55999741C>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.921G>A	11.37:g.55999741C>T							p.S307S	NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN			1	996	-	Esophageal squamous(21;0.00448)		307					B9EGX5|Q6IFC8	Silent	SNP	ENST00000313264.4	37	c.921G>A	CCDS31523.1																																																																																				0.408	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		6	143	0	0	0	0.029380	0	6	143				
INTS10	55174	broad.mit.edu	37	8	19690802	19690802	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:19690802G>A	ENST00000397977.3	+	12	1898	c.1500G>A	c.(1498-1500)gcG>gcA	p.A500A		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	500					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.A500A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TCCAGCTGGCGACGTGCCACT	0.607																																						ENST00000397977.3																			1	Substitution - coding silent(1)	p.A500A(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(1498-1500)gcG>gcA		integrator complex subunit 10							36.0	41.0	40.0					8																	19690802		2111	4247	6358	SO:0001819	synonymous_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19690802G>A	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1500G>A	8.37:g.19690802G>A							p.A500A	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	12	1898	+			500					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	c.1500G>A	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	G	4.162	0.028632	0.08054	.	.	ENSG00000104613	ENST00000518799	.	.	.	5.37	-10.7	0.00240	.	.	.	.	.	T	0.59445	0.2194	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76833	-0.2813	4	.	.	.	-17.7037	15.0772	0.72084	0.5008:0.4313:0.0678:0.0	.	.	.	.	N	83	.	.	D	+	1	0	INTS10	19735082	0.000000	0.05858	0.002000	0.10522	0.419000	0.31324	-5.972000	0.00087	-3.956000	0.00087	-0.251000	0.11542	GAC		0.607	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		12	44	0	0	0	0.105934	0	12	44				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000464581.1_5'Flank			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	54	0	0	0	0.009096	0	3	54				
ZIC2	7546	broad.mit.edu	37	13	100635173	100635173	+	Silent	SNP	A	A	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr13:100635173A>G	ENST00000376335.3	+	1	1148	c.855A>G	c.(853-855)acA>acG	p.T285T		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	285					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T285T(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGCTGGTGACACACGTCTCGG	0.582																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			1	Substitution - coding silent(1)	p.T285T(1)	prostate(1)	large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(853-855)acA>acG		Zic family member 2							126.0	122.0	124.0					13																	100635173		2203	4300	6503	SO:0001819	synonymous_variant	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635173A>G	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.855A>G	13.37:g.100635173A>G							p.T285T	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	1148	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		285					Q5VYA9|Q9H309	Silent	SNP	ENST00000376335.3	37	c.855A>G	CCDS9495.1																																																																																				0.582	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		53	71	0	0	0	0.048971	0	53	71				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000464581.1_5'Flank			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	55	0	0	0	0.009096	0	3	55				
MXRA5	25878	broad.mit.edu	37	X	3227796	3227796	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:3227796G>A	ENST00000217939.6	-	7	8602	c.8448C>T	c.(8446-8448)ctC>ctT	p.L2816L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2816	Ig-like C2-type 12.					extracellular vesicular exosome (GO:0070062)		p.L2816L(3)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGTCACTGCCGAGAATGTTTT	0.468																																						ENST00000217939.6																			3	Substitution - coding silent(3)	p.L2816L(3)	prostate(3)	NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(8446-8448)ctC>ctT		matrix-remodelling associated 5							77.0	72.0	74.0					X																	3227796		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3227796G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.8448C>T	X.37:g.3227796G>A							p.L2816L	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	8602	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2816			Ig-like C2-type 12.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.8448C>T	CCDS14124.1																																																																																				0.468	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		20	3	0	0	0	0.055883	0	20	3				
OR13C5	138799	broad.mit.edu	37	9	107361114	107361114	+	Missense_Mutation	SNP	C	C	T	rs76558719		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr9:107361114C>T	ENST00000374779.2	-	1	674	c.581G>A	c.(580-582)gGc>gAc	p.G194D		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G194D(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GAACTCATTGCCTGAGATGTC	0.383													C|||	1	0.000199681	0.0008	0.0	5008	,	,		24553	0.0		0.0	False		,,,				2504	0.0					ENST00000374779.2																			1	Substitution - Missense(1)	p.G194D(1)	prostate(1)	endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						c.(580-582)gGc>gAc		olfactory receptor, family 13, subfamily C, member 5							188.0	173.0	178.0					9																	107361114		2203	4300	6503	SO:0001583	missense	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107361114C>T		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.581G>A	9.37:g.107361114C>T	ENSP00000363911:p.Gly194Asp						p.G194D	NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN			1	674	-			194					B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	c.581G>A	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825228	0.32237	.	.	ENSG00000255800	ENST00000374779	T	0.00091	8.74	4.17	-8.33	0.00992	GPCR, rhodopsin-like superfamily (1);	0.502926	0.14712	U	0.302890	T	0.00073	0.0002	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.39702	-0.9601	10	0.51188	T	0.08	.	4.2242	0.10572	0.6078:0.1243:0.0925:0.1754	.	194	Q8NGS8	O13C5_HUMAN	D	194	ENSP00000363911:G194D	ENSP00000363911:G194D	G	-	2	0	OR13C5	106400935	0.000000	0.05858	0.000000	0.03702	0.367000	0.29736	-0.970000	0.03810	-1.910000	0.01083	0.531000	0.56144	GGC		0.383	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		5	177	0	0	0	0.021553	0	5	177				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	94	0	0	0	0.004672	0	3	94				
LELP1	149018	broad.mit.edu	37	1	153177307	153177307	+	Missense_Mutation	SNP	C	C	T	rs573106359		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:153177307C>T	ENST00000368747.1	+	2	234	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	42	Cys/Pro-rich.							p.R42C(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGCTGCAACGCTGTTTCGA	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		19136	0.0		0.0	False		,,,				2504	0.001					ENST00000368747.1																			2	Substitution - Missense(2)	p.R42C(2)	large_intestine(1)|prostate(1)	NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19						c.(124-126)Cgc>Tgc		late cornified envelope-like proline-rich 1							172.0	150.0	157.0					1																	153177307		2203	4300	6503	SO:0001583	missense	149018							g.chr1:153177307C>T		CCDS30869.1	1q21.3	2008-02-05			ENSG00000203784	ENSG00000203784			32046	protein-coding gene	gene with protein product		611042					Standard	NM_001010857		Approved		uc001fbl.4	Q5T871	OTTHUMG00000013935	ENST00000368747.1:c.124C>T	1.37:g.153177307C>T	ENSP00000357736:p.Arg42Cys						p.R42C	NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	234	+	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		42			Cys/Pro-rich.		A1L4E1	Missense_Mutation	SNP	ENST00000368747.1	37	c.124C>T	CCDS30869.1	.	.	.	.	.	.	.	.	.	.	C	8.982	0.975532	0.18736	.	.	ENSG00000203784	ENST00000368747	.	.	.	5.41	3.53	0.40419	.	0.000000	0.39407	N	0.001373	T	0.60235	0.2253	.	.	.	0.38639	D	0.951557	D	0.89917	1.0	D	0.67382	0.951	T	0.64153	-0.6474	8	0.56958	D	0.05	-16.5011	6.4963	0.22144	0.1797:0.7304:0.0:0.0899	.	42	Q5T871	LELP1_HUMAN	C	42	.	ENSP00000357736:R42C	R	+	1	0	LELP1	151443931	0.972000	0.33761	0.994000	0.49952	0.613000	0.37349	0.691000	0.25467	0.826000	0.34661	0.561000	0.74099	CGC		0.552	LELP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039104.1	NM_001010857		13	178	0	0	0	0.105934	0	13	178				
HTR1A	3350	broad.mit.edu	37	5	63256567	63256567	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:63256567C>T	ENST00000323865.3	-	1	1213	c.980G>A	c.(979-981)cGc>cAc	p.R327H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	327					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.R327H(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CTCGGCGTTGCGCTCATTTTT	0.622																																						ENST00000323865.3																			1	Substitution - Missense(1)	p.R327H(1)	prostate(1)	cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(979-981)cGc>cAc		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						68.0	71.0	70.0					5																	63256567		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256567C>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.980G>A	5.37:g.63256567C>T	ENSP00000316244:p.Arg327His					RP11-158J3.2_ENST00000502882.1_RNA	p.R327H	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1213	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	327					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.980G>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940610	0.73557	.	.	ENSG00000178394	ENST00000323865	T	0.39229	1.09	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.215793	0.40144	N	0.001172	T	0.50837	0.1639	L	0.49640	1.575	0.47065	D	0.999304	D	0.65815	0.995	P	0.55923	0.787	T	0.48703	-0.9012	10	0.52906	T	0.07	.	12.1079	0.53823	0.0:0.9137:0.0:0.0863	.	327	P08908	5HT1A_HUMAN	H	327	ENSP00000316244:R327H	ENSP00000316244:R327H	R	-	2	0	HTR1A	63292323	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.012000	0.57131	2.692000	0.91855	0.655000	0.94253	CGC		0.622	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		9	82	0	0	0	0.047766	0	9	82				
UHRF1BP1	54887	broad.mit.edu	37	6	34804091	34804091	+	Silent	SNP	G	G	T	rs190081988		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:34804091G>T	ENST00000192788.5	+	8	1170	c.999G>T	c.(997-999)ctG>ctT	p.L333L	UHRF1BP1_ENST00000452449.2_Silent_p.L333L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	333							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.L333L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCCTGGACCTGCACATTTGTG	0.577																																						ENST00000192788.5																			1	Substitution - coding silent(1)	p.L333L(1)	prostate(1)	breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(997-999)ctG>ctT		UHRF1 binding protein 1							83.0	91.0	88.0					6																	34804091		2054	4211	6265	SO:0001819	synonymous_variant	54887							g.chr6:34804091G>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.999G>T	6.37:g.34804091G>T						UHRF1BP1_ENST00000452449.2_Silent_p.L333L	p.L333L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			8	1170	+			333					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.999G>T	CCDS43455.1																																																																																				0.577	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		31	75	1	0	2.81731e-10	0.045705	3.16948e-10	31	75				
SFRP2	6423	broad.mit.edu	37	4	154709740	154709740	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr4:154709740A>G	ENST00000274063.4	-	1	532	c.248T>C	c.(247-249)gTc>gCc	p.V83A		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	83	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V83A(2)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CTGCTTCATGACCAGCGGGAT	0.627																																						ENST00000274063.4																			2	Substitution - Missense(2)	p.V83A(2)	prostate(2)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(247-249)gTc>gCc		secreted frizzled-related protein 2							98.0	109.0	106.0					4																	154709740		2203	4300	6503	SO:0001583	missense	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154709740A>G	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.248T>C	4.37:g.154709740A>G	ENSP00000274063:p.Val83Ala						p.V83A	NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN			1	532	-	all_hematologic(180;0.093)	Renal(120;0.117)	83			FZ.		B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	ENST00000274063.4	37	c.248T>C	CCDS34082.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.405560	0.83230	.	.	ENSG00000145423	ENST00000274063	T	0.56444	0.46	4.77	3.53	0.40419	Frizzled domain (5);	0.111099	0.64402	D	0.000010	T	0.51398	0.1672	L	0.48986	1.54	0.58432	D	0.999998	B	0.33379	0.41	B	0.41135	0.348	T	0.51505	-0.8697	10	0.56958	D	0.05	.	10.6521	0.45655	0.8561:0.0:0.0:0.1439	.	83	Q96HF1	SFRP2_HUMAN	A	83	ENSP00000274063:V83A	ENSP00000274063:V83A	V	-	2	0	SFRP2	154929190	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.177000	0.94849	0.715000	0.32103	0.533000	0.62120	GTC		0.627	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			20	127	0	0	0	0.062417	0	20	127				
GABRE	2564	broad.mit.edu	37	X	151138818	151138818	+	Missense_Mutation	SNP	T	T	C	rs61730039	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:151138818T>C	ENST00000370328.3	-	2	166	c.113A>G	c.(112-114)tAt>tGt	p.Y38C	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.Y38C	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	38					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Y38C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTGGGGGCCATAGACAACATC	0.512													t|||	7	0.0018543	0.0	0.0014	3775	,	,		12419	0.0		0.004	False		,,,				2504	0.002					ENST00000370325.1																			2	Substitution - Missense(2)	p.Y38C(2)	prostate(1)|lung(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(112-114)tAt>tGt		gamma-aminobutyric acid (GABA) A receptor, epsilon			CYS/TYR	0,3835		0,0,0,1632,571	121.0	116.0	117.0		113	2.9	0.0	X	dbSNP_129	117	50,6678		0,32,18,2396,1854	yes	missense	GABRE	NM_004961.3	194	0,32,18,4028,2425	CC,CT,C,TT,T		0.7432,0.0,0.4734	probably-damaging	38/507	151138818	50,10513	2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151138818T>C	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.113A>G	X.37:g.151138818T>C	ENSP00000359353:p.Tyr38Cys					GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.Y38C	p.Y38C			P78334	GBRE_HUMAN			2	166	-	Acute lymphoblastic leukemia(192;6.56e-05)		38					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.113A>G	CCDS14703.1	3	0.0018083182640144665	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	t	14.12	2.440276	0.43326	0.0	0.007432	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.79247	-1.25;-0.66	4.11	2.9	0.33743	.	.	.	.	.	T	0.57373	0.2049	N	0.08118	0	0.09310	N	0.999994	D	0.63046	0.992	P	0.51355	0.667	T	0.53429	-0.8440	9	0.72032	D	0.01	.	5.7704	0.18249	0.2498:0.0:0.0:0.7502	.	38	P78334	GBRE_HUMAN	C	38	ENSP00000359353:Y38C;ENSP00000359350:Y38C	ENSP00000359350:Y38C	Y	-	2	0	GABRE	150889474	0.000000	0.05858	0.005000	0.12908	0.030000	0.12068	0.377000	0.20552	0.678000	0.31325	0.483000	0.47432	TAT		0.512	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		81	15	0	0	0	0.048971	0	81	15				
CBX8	57332	broad.mit.edu	37	17	77768836	77768836	+	Silent	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:77768836C>T	ENST00000269385.4	-	5	885	c.768G>A	c.(766-768)tcG>tcA	p.S256S	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	256					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)	p.S256S(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCACCAGGTCCGAGTCCTGTC	0.627																																						ENST00000269385.4																			1	Substitution - coding silent(1)	p.S256S(1)	prostate(1)	breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14						c.(766-768)tcG>tcA		chromobox homolog 8							41.0	38.0	39.0					17																	77768836		2202	4300	6502	SO:0001819	synonymous_variant	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77768836C>T	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.768G>A	17.37:g.77768836C>T							p.S256S	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	885	-			256					Q96H39|Q9NR07	Silent	SNP	ENST00000269385.4	37	c.768G>A	CCDS11765.1																																																																																				0.627	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		7	11	0	0	0	0.038147	0	7	11				
PRG4	10216	broad.mit.edu	37	1	186276640	186276640	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:186276640A>C	ENST00000445192.2	+	7	1834	c.1789A>C	c.(1789-1791)Acc>Ccc	p.T597P	PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	597	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T597P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGAAGCC	0.652																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T597P(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1789-1791)Acc>Ccc		proteoglycan 4							87.0	83.0	85.0					1																	186276640		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276640A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1789A>C	1.37:g.186276640A>C	ENSP00000399679:p.Thr597Pro					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P|PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P	p.T597P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1834	+			597			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1789A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	A	1.907	-0.451678	0.04572	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04360	3.64;3.75;3.64;3.73	2.4	-2.78	0.05859	.	0.762931	0.10621	N	0.653340	T	0.01189	0.0039	N	0.00465	-1.465	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.47736	-0.9094	9	.	.	.	.	7.4224	0.27079	0.6922:0.2055:0.0:0.1023	.	463;504;597;556	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	554;463;556;504;597	ENSP00000356456:T554P;ENSP00000356453:T556P;ENSP00000356455:T504P;ENSP00000399679:T597P	.	T	+	1	0	PRG4	184543263	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.955000	0.00675	-1.097000	0.03042	-4.201000	0.00009	ACC		0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		6	69	0	0	0	0.047766	0	6	69				
FIBCD1	84929	broad.mit.edu	37	9	133780631	133780631	+	Silent	SNP	G	G	A	rs142382814		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr9:133780631G>A	ENST00000372338.4	-	6	1358	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Silent_p.S214S|FIBCD1_ENST00000448616.1_Silent_p.S372S	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	372	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)	p.S372S(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CTGCAGTGCCGGAATAGTCAG	0.647																																						ENST00000372338.4																			1	Substitution - coding silent(1)	p.S372S(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12						c.(1114-1116)tcC>tcT		fibrinogen C domain containing 1		G	,	1,4405	2.1+/-5.4	0,1,2202	40.0	36.0	38.0		1116,1116	-9.2	0.7	9	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FIBCD1	NM_001145106.1,NM_032843.4	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	372/462,372/462	133780631	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133780631G>A	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1116C>T	9.37:g.133780631G>A						FIBCD1_ENST00000448616.1_Silent_p.S372S|FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Silent_p.S214S	p.S372S	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	6	1358	-	all_hematologic(7;0.0028)		372			Fibrinogen C-terminal.		A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	ENST00000372338.4	37	c.1116C>T	CCDS6937.1																																																																																				0.647	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		8	19	0	0	0	0.069234	0	8	19				
TXNIP	10628	broad.mit.edu	37	1	145439910	145439910	+	Silent	SNP	T	T	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:145439910T>C	ENST00000369317.4	+	3	790	c.456T>C	c.(454-456)aaT>aaC	p.N152N	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	152					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.N152N(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGATGTCAATACCCCTGATT	0.433																																						ENST00000369317.4																			1	Substitution - coding silent(1)	p.N152N(1)	prostate(1)	breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(454-456)aaT>aaC		thioredoxin interacting protein							88.0	93.0	91.0					1																	145439910		2203	4300	6503	SO:0001819	synonymous_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145439910T>C	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.456T>C	1.37:g.145439910T>C						TXNIP_ENST00000475171.1_Intron	p.N152N	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN			3	790	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		152					B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	ENST00000369317.4	37	c.456T>C	CCDS913.1																																																																																				0.433	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		32	128	0	0	0	0.045705	0	32	128				
KRT15	3866	broad.mit.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	rs138271368	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393981.3_Missense_Mutation_p.V40I|KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19121	0.001		0.0	False		,,,				2504	0.0					ENST00000254043.3																			3	Substitution - Missense(3)	p.V205I(3)	prostate(1)|kidney(1)|central_nervous_system(1)	NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(613-615)Gtt>Att		keratin 15		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	75.0	75.0	75.0		613	2.7	1.0	17	dbSNP_134	75	0,8600		0,0,4300	yes	missense	KRT15	NM_002275.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	205/457	39673185	1,13005	2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673185C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.613G>A	17.37:g.39673185C>T	ENSP00000254043:p.Val205Ile					KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I	p.V205I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			3	4198	-		Breast(137;0.000286)	205			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.613G>A	CCDS11398.1	6	0.0027472527472527475	1	0.0020325203252032522	1	0.0027624309392265192	3	0.005244755244755245	1	0.0013192612137203166	C	18.69	3.678865	0.68042	2.27E-4	0.0	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	4.86	2.74	0.32292	Filament (1);	0.000000	0.41823	D	0.000804	D	0.93288	0.7861	M	0.93150	3.385	0.47037	D	0.99929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.93234	0.6620	10	0.87932	D	0	.	10.0097	0.41979	0.1362:0.7907:0.0:0.0731	.	40;205;205	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	I	205;40;205;40;40	ENSP00000254043:V205I;ENSP00000377544:V40I;ENSP00000377546:V205I;ENSP00000377550:V40I;ENSP00000409282:V40I	ENSP00000254043:V205I	V	-	1	0	KRT15	36926711	1.000000	0.71417	0.999000	0.59377	0.185000	0.23345	4.807000	0.62576	1.254000	0.44035	0.650000	0.86243	GTT		0.612	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		35	60	0	0	0	0.111260	0	35	60				
EFEMP2	30008	broad.mit.edu	37	11	65637423	65637423	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr11:65637423G>C	ENST00000307998.6	-	7	862	c.632C>G	c.(631-633)gCc>gGc	p.A211G	EFEMP2_ENST00000528176.1_Missense_Mutation_p.A211G|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	211	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)	p.A211G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CTCGCATGGGGCCCCCATGTC	0.607																																						ENST00000307998.6																			1	Substitution - Missense(1)	p.A211G(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(631-633)gCc>gGc		EGF containing fibulin-like extracellular matrix protein 2							80.0	87.0	85.0					11																	65637423		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65637423G>C	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.632C>G	11.37:g.65637423G>C	ENSP00000309953:p.Ala211Gly					EFEMP2_ENST00000528176.1_Missense_Mutation_p.A211G	p.A211G	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	7	862	-			211			EGF-like 4; calcium-binding (Potential).		A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.632C>G	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308477	0.81247	.	.	ENSG00000172638	ENST00000528176;ENST00000307998	D;T	0.86297	-2.1;-1.42	5.6	5.6	0.85130	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.52532	D	0.000078	T	0.78960	0.4366	N	0.01515	-0.825	0.49130	D	0.999757	D;P	0.56746	0.977;0.798	P;P	0.56474	0.799;0.59	T	0.78753	-0.2081	10	0.11794	T	0.64	.	17.1044	0.86658	0.0:0.0:1.0:0.0	.	211;211	E9PRU1;O95967	.;FBLN4_HUMAN	G	211	ENSP00000434151:A211G;ENSP00000309953:A211G	ENSP00000309953:A211G	A	-	2	0	EFEMP2	65393999	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.206000	0.58473	2.644000	0.89710	0.561000	0.74099	GCC		0.607	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		9	127	0	0	0	0.058154	0	9	127				
ZMYM3	9203	broad.mit.edu	37	X	70461111	70461111	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chrX:70461111G>T	ENST00000353904.2	-	24	4073	c.3886C>A	c.(3886-3888)Cct>Act	p.P1296T	ZMYM3_ENST00000373998.1_Missense_Mutation_p.P1284T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P1296T|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P1298T|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P1206T	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1296					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P1296T(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AACTTGACAGGGCAGCGGAGG	0.507																																						ENST00000373998.1																			1	Substitution - Missense(1)	p.P1296T(1)	prostate(1)	breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3850-3852)Cct>Act		zinc finger, MYM-type 3							122.0	98.0	106.0					X																	70461111		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70461111G>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3886C>A	X.37:g.70461111G>T	ENSP00000343909:p.Pro1296Thr					ZMYM3_ENST00000373984.3_Missense_Mutation_p.P1206T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P1296T|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P1298T|ZMYM3_ENST00000353904.2_Missense_Mutation_p.P1296T	p.P1284T	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			24	4547	-	Renal(35;0.156)		1296					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3850C>A	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	18.22	3.576784	0.65878	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.53857	1.19;0.6;1.19;1.23;1.19	4.79	3.93	0.45458	.	0.000000	0.64402	D	0.000004	T	0.70378	0.3217	M	0.73962	2.25	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.73528	-0.3954	10	0.87932	D	0	-8.3833	12.2326	0.54497	0.0844:0.0:0.9155:0.0	.	1284;1296	Q14202-2;Q14202	.;ZMYM3_HUMAN	T	1296;1284;1296;1206;1298	ENSP00000322845:P1296T;ENSP00000363110:P1284T;ENSP00000343909:P1296T;ENSP00000363096:P1206T;ENSP00000363100:P1298T	ENSP00000322845:P1296T	P	-	1	0	ZMYM3	70377836	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.254000	0.95512	1.013000	0.39391	0.583000	0.79449	CCT		0.507	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		5	23	1	0	5.9392e-07	0.021553	6.42403e-07	5	23				
NFASC	23114	broad.mit.edu	37	1	204985573	204985573	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr1:204985573G>A	ENST00000401399.1	+	29	3828	c.3629G>A	c.(3628-3630)gGc>gAc	p.G1210D	NFASC_ENST00000404076.1_Missense_Mutation_p.G1127D|NFASC_ENST00000367171.4_Missense_Mutation_p.G1302D|NFASC_ENST00000338586.6_Missense_Mutation_p.G1194D|NFASC_ENST00000539706.1_Missense_Mutation_p.G1144D|NFASC_ENST00000367172.4_Missense_Mutation_p.G1317D|NFASC_ENST00000360049.4_Missense_Mutation_p.G1139D|NFASC_ENST00000339876.6_Missense_Mutation_p.G1210D|NFASC_ENST00000513543.1_Missense_Mutation_p.G1139D|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000338515.6_Missense_Mutation_p.G1227D|NFASC_ENST00000367169.4_Missense_Mutation_p.G1041D|NFASC_ENST00000404907.1_Missense_Mutation_p.G1144D|NFASC_ENST00000367170.4_Missense_Mutation_p.G1238D			O94856	NFASC_HUMAN	neurofascin	1317					axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.G1139D(1)|p.G1210D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCCTTCATCGGCCAGTACACG	0.562																																						ENST00000367172.4																			2	Substitution - Missense(2)	p.G1139D(1)|p.G1210D(1)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(3949-3951)gGc>gAc		neurofascin							183.0	162.0	169.0					1																	204985573		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204985573G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3629G>A	1.37:g.204985573G>A	ENSP00000385637:p.Gly1210Asp					NFASC_ENST00000339876.6_Missense_Mutation_p.G1210D|NFASC_ENST00000367169.4_Missense_Mutation_p.G1041D|NFASC_ENST00000539706.1_Missense_Mutation_p.G1144D|NFASC_ENST00000360049.4_Missense_Mutation_p.G1139D|NFASC_ENST00000401399.1_Missense_Mutation_p.G1210D|NFASC_ENST00000338586.6_Missense_Mutation_p.G1194D|NFASC_ENST00000404076.1_Missense_Mutation_p.G1127D|NFASC_ENST00000404907.1_Missense_Mutation_p.G1144D|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367171.4_Missense_Mutation_p.G1302D|NFASC_ENST00000338515.6_Missense_Mutation_p.G1227D|NFASC_ENST00000513543.1_Missense_Mutation_p.G1139D|NFASC_ENST00000367170.4_Missense_Mutation_p.G1238D	p.G1317D			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		32	4278	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		1317					B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.3950G>A	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.275914|5.275914	0.95459|0.95459	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173;ENST00000425360|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393;ENST00000447819	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89343	.|-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.000000	.|0.52532	.|D	.|0.000080	D|D	0.94794|0.94794	0.8319|0.8319	M|M	0.81497|0.81497	2.545|2.545	0.41277|0.41277	D|D	0.986882|0.986882	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.996;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;0.996;0.997;0.999;1.0	D|D	0.95412|0.95412	0.8499|0.8499	5|10	.|0.87932	.|D	.|0	.|.	18.6493|18.6493	0.91425|0.91425	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1317;1159;1144;1194;1036;1210;1139	.|O94856;O94856-11;O94856-8;F8W8X7;O94856-4;O94856-9;O94856-3	.|NFASC_HUMAN;.;.;.;.;.;.	T|D	1011;268|1317;1302;1238;1227;1210;1194;1159;1144;1139;1041;1127;1210;1144;1139;1135;188	.|ENSP00000356140:G1317D;ENSP00000356139:G1302D;ENSP00000356138:G1238D;ENSP00000342128:G1227D;ENSP00000344786:G1210D;ENSP00000343509:G1194D;ENSP00000438614:G1144D;ENSP00000353154:G1139D;ENSP00000356137:G1041D;ENSP00000385676:G1127D;ENSP00000385637:G1210D;ENSP00000384061:G1144D;ENSP00000425908:G1139D;ENSP00000415031:G1135D;ENSP00000416891:G188D	.|ENSP00000295776:G1159D	A|G	+|+	1|2	0|0	NFASC|NFASC	203252196|203252196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.835000|9.835000	0.99442|0.99442	2.484000|2.484000	0.83849|0.83849	0.563000|0.563000	0.77884|0.77884	GCC|GGC		0.562	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		4	128	0	0	0	0.009096	0	4	128				
HIST1H2AB	8335	broad.mit.edu	37	6	26033605	26033605	+	Silent	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr6:26033605C>T	ENST00000259791.2	-	1	191	c.192G>A	c.(190-192)ctG>ctA	p.L64L	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	64						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L64L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CCGCCAGCTCCAGGATCTCGG	0.637																																						ENST00000259791.2																			1	Substitution - coding silent(1)	p.L64L(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(190-192)ctG>ctA		histone cluster 1, H2ab							45.0	48.0	47.0					6																	26033605		2203	4300	6503	SO:0001819	synonymous_variant	8335				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26033605C>T	X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"""Histones / Replication-dependent"""	4734	protein-coding gene	gene with protein product		602795	"""H2A histone family, member M"", ""histone 1, H2ab"""	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.192G>A	6.37:g.26033605C>T							p.L64L	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN			1	191	-			64					P28001|Q76P63	Silent	SNP	ENST00000259791.2	37	c.192G>A	CCDS4574.1																																																																																				0.637	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040082.1	NM_003513		11	56	0	0	0	0.080935	0	11	56				
CYB5R2	51700	broad.mit.edu	37	11	7690490	7690490	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr11:7690490C>T	ENST00000533558.1	-	5	890	c.334G>A	c.(334-336)Ggg>Agg	p.G112R	CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299498.6_Missense_Mutation_p.G112R|CYB5R2_ENST00000299497.9_Missense_Mutation_p.G112R|CYB5R2_ENST00000524790.1_Missense_Mutation_p.G112R			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	112	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.G112R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGGTCTCCCCGATTTTCATG	0.483																																						ENST00000533558.1																			1	Substitution - Missense(1)	p.G112R(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(334-336)Ggg>Agg		cytochrome b5 reductase 2							155.0	146.0	149.0					11																	7690490		2201	4296	6497	SO:0001583	missense	51700				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	g.chr11:7690490C>T	AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.334G>A	11.37:g.7690490C>T	ENSP00000437041:p.Gly112Arg					CYB5R2_ENST00000524790.1_Missense_Mutation_p.G112R|CYB5R2_ENST00000299497.9_Missense_Mutation_p.G112R|CYB5R2_ENST00000299498.6_Missense_Mutation_p.G112R|CYB5R2_ENST00000528585.1_5'UTR	p.G112R			Q6BCY4	NB5R2_HUMAN		Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	5	890	-			112			FAD-binding FR-type.		Q9BVA3|Q9UF68|Q9UHJ0	Missense_Mutation	SNP	ENST00000533558.1	37	c.334G>A	CCDS7780.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815040	0.90790	.	.	ENSG00000166394	ENST00000524790;ENST00000299498;ENST00000533558;ENST00000299497;ENST00000531096;ENST00000527542;ENST00000524608;ENST00000436351	D;D;D;D;D;D;D;D	0.97279	-4.32;-4.32;-4.32;-4.32;-4.32;-4.32;-4.32;-4.32	5.37	5.37	0.77165	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	0.100867	0.64402	D	0.000002	D	0.99083	0.9685	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73708	0.969;0.981	D	0.99063	1.0831	10	0.87932	D	0	-16.8903	16.6555	0.85227	0.0:1.0:0.0:0.0	.	112;112	E9PIV9;Q6BCY4	.;NB5R2_HUMAN	R	112;112;112;112;112;112;172;112	ENSP00000435916:G112R;ENSP00000299498:G112R;ENSP00000437041:G112R;ENSP00000299497:G112R;ENSP00000434969:G112R;ENSP00000433856:G112R;ENSP00000432482:G172R;ENSP00000392777:G112R	ENSP00000299497:G112R	G	-	1	0	CYB5R2	7647066	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	5.277000	0.65586	2.793000	0.96121	0.563000	0.77884	GGG		0.483	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229		15	115	0	0	0	0.024245	0	15	115				
TBXA2R	6915	broad.mit.edu	37	19	3600542	3600542	+	Missense_Mutation	SNP	C	C	T	rs201738444		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr19:3600542C>T	ENST00000375190.4	-	2	484	c.91G>A	c.(91-93)Gcc>Acc	p.A31T	TBXA2R_ENST00000411851.3_Missense_Mutation_p.A31T|TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000589966.1_Missense_Mutation_p.A31T	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	31					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)	p.A31T(1)		kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	AAGGAGGCGGCGAACCAGGGC	0.697																																						ENST00000375190.4																			1	Substitution - Missense(1)	p.A31T(1)	prostate(1)	kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(91-93)Gcc>Acc		thromboxane A2 receptor	Ridogrel(DB01207)						22.0	29.0	26.0					19																	3600542		2104	4196	6300	SO:0001583	missense	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600542C>T		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.91G>A	19.37:g.3600542C>T	ENSP00000364336:p.Ala31Thr					TBXA2R_ENST00000589966.1_Missense_Mutation_p.A31T|TBXA2R_ENST00000411851.3_Missense_Mutation_p.A31T	p.A31T	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	484	-		Hepatocellular(1079;0.137)	31					O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	c.91G>A	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230395	0.58777	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.36699	1.24;1.24	4.55	-0.769	0.11009	.	0.152670	0.43747	D	0.000533	T	0.16300	0.0392	L	0.27053	0.805	0.35243	D	0.77803	B;P	0.39352	0.046;0.669	B;B	0.27076	0.004;0.076	T	0.26710	-1.0095	10	0.24483	T	0.36	-11.956	8.4517	0.32875	0.4913:0.2645:0.2442:0.0	.	31;31	P21731;E2QRJ2	TA2R_HUMAN;.	T	31	ENSP00000393333:A31T;ENSP00000364336:A31T	ENSP00000364336:A31T	A	-	1	0	TBXA2R	3551542	0.924000	0.31332	0.808000	0.32385	0.738000	0.42128	0.343000	0.19944	-0.195000	0.10382	0.305000	0.20034	GCC		0.697	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			9	23	0	0	0	0.058154	0	9	23				
ZMYM3	9203	broad.mit.edu	37	X	70461110	70461110	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chrX:70461110G>C	ENST00000353904.2	-	24	4074	c.3887C>G	c.(3886-3888)cCt>cGt	p.P1296R	ZMYM3_ENST00000373998.1_Missense_Mutation_p.P1284R|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P1296R|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P1298R|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P1206R	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1296					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P1296R(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GAACTTGACAGGGCAGCGGAG	0.512																																						ENST00000373998.1																			1	Substitution - Missense(1)	p.P1296R(1)	prostate(1)	breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3850-3852)cCt>cGt		zinc finger, MYM-type 3							122.0	98.0	106.0					X																	70461110		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70461110G>C	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3887C>G	X.37:g.70461110G>C	ENSP00000343909:p.Pro1296Arg					ZMYM3_ENST00000373984.3_Missense_Mutation_p.P1206R|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P1296R|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P1298R|ZMYM3_ENST00000353904.2_Missense_Mutation_p.P1296R	p.P1284R	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			24	4548	-	Renal(35;0.156)		1296					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3851C>G	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.958607	0.74016	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.54279	1.17;0.58;1.17;1.21;1.17	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000004	T	0.72906	0.3519	M	0.73962	2.25	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77427	-0.2592	10	0.87932	D	0	-8.3833	17.073	0.86579	0.0:0.0:1.0:0.0	.	1284;1296	Q14202-2;Q14202	.;ZMYM3_HUMAN	R	1296;1284;1296;1206;1298	ENSP00000322845:P1296R;ENSP00000363110:P1284R;ENSP00000343909:P1296R;ENSP00000363096:P1206R;ENSP00000363100:P1298R	ENSP00000322845:P1296R	P	-	2	0	ZMYM3	70377835	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.254000	0.95512	2.209000	0.71365	0.583000	0.79449	CCT		0.512	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		5	23	0	0	0	0.021553	0	5	23				
FUT10	84750	broad.mit.edu	37	8	33246843	33246843	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr8:33246843C>T	ENST00000327671.5	-	4	1481	c.850G>A	c.(850-852)Gtt>Att	p.V284I	FUT10_ENST00000518672.1_Missense_Mutation_p.V256I|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Missense_Mutation_p.V256I|FUT10_ENST00000335589.3_Missense_Mutation_p.V222I	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	284					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.V284I(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TCATCACAAACTGCATTCTCA	0.468																																						ENST00000327671.5																			1	Substitution - Missense(1)	p.V284I(1)	prostate(1)	cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29						c.(850-852)Gtt>Att		fucosyltransferase 10 (alpha (1,3) fucosyltransferase)							85.0	79.0	81.0					8																	33246843		2203	4300	6503	SO:0001583	missense	84750				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33246843C>T	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.850G>A	8.37:g.33246843C>T	ENSP00000332757:p.Val284Ile					FUT10_ENST00000335589.3_Missense_Mutation_p.V222I|FUT10_ENST00000524021.1_Missense_Mutation_p.V256I|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000518672.1_Missense_Mutation_p.V256I	p.V284I	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	4	1481	-			284					A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	c.850G>A	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	c	0.806	-0.753804	0.03041	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.25250	1.96;1.96;1.96;1.81	5.22	3.43	0.39272	.	0.301587	0.30277	N	0.009999	T	0.10508	0.0257	N	0.05619	-0.005	0.30280	N	0.791446	B;B;B;B;B;B	0.10296	0.003;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.16289	0.015;0.001;0.003;0.005;0.009;0.004	T	0.31943	-0.9925	10	0.02654	T	1	-1.9925	10.0253	0.42068	0.0:0.8343:0.0:0.1657	.	334;284;256;222;284;326	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	I	284;326;256;256;222	ENSP00000332757:V284I;ENSP00000430428:V256I;ENSP00000429870:V256I;ENSP00000334997:V222I	ENSP00000332757:V284I	V	-	1	0	FUT10	33366385	0.479000	0.25925	0.009000	0.14445	0.740000	0.42216	0.984000	0.29565	0.707000	0.31934	0.552000	0.68991	GTT		0.468	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		8	46	0	0	0	0.038147	0	8	46				
SLX4	84464	broad.mit.edu	37	16	3640329	3640329	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr16:3640329G>A	ENST00000294008.3	-	12	3950	c.3310C>T	c.(3310-3312)Cgg>Tgg	p.R1104W		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1104	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.R1104R(1)|p.R1104W(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGCACGGACCGACGCTCTTTG	0.532								Direct reversal of damage																														ENST00000294008.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.R1104R(1)|p.R1104W(1)	prostate(1)|endometrium(1)	breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(3310-3312)Cgg>Tgg	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							115.0	110.0	112.0					16																	3640329		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3640329G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3310C>T	16.37:g.3640329G>A	ENSP00000294008:p.Arg1104Trp						p.R1104W	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	3950	-			1104			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.3310C>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608463	0.46527	.	.	ENSG00000188827	ENST00000294008	T	0.18960	2.18	5.59	-6.26	0.02033	.	0.978990	0.08383	N	0.954247	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	D	0.54047	0.964	B	0.36766	0.232	T	0.34850	-0.9812	10	0.56958	D	0.05	.	7.7788	0.29054	0.0:0.4672:0.2201:0.3126	.	1104	Q8IY92	SLX4_HUMAN	W	1104	ENSP00000294008:R1104W	ENSP00000294008:R1104W	R	-	1	2	SLX4	3580330	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.383000	0.02544	-1.032000	0.03304	-0.262000	0.10625	CGG		0.532	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		5	137	0	0	0	0.021553	0	5	137				
CCDC54	84692	broad.mit.edu	37	3	107096617	107096617	+	Silent	SNP	C	C	T	rs144553244	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr3:107096617C>T	ENST00000261058.1	+	1	430	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	61								p.D61D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATAGTTATGACGGAAAAATGA	0.363													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21297	0.0		0.0	False		,,,				2504	0.0					ENST00000261058.1																			1	Substitution - coding silent(1)	p.D61D(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						c.(181-183)gaC>gaT		coiled-coil domain containing 54							132.0	127.0	129.0					3																	107096617		2203	4300	6503	SO:0001819	synonymous_variant	84692							g.chr3:107096617C>T	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.183C>T	3.37:g.107096617C>T							p.D61D	NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN			1	430	+			61					Q96A43	Silent	SNP	ENST00000261058.1	37	c.183C>T	CCDS2949.1																																																																																				0.363	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		8	89	0	0	0	0.038147	0	8	89				
ARID1B	57492	broad.mit.edu	37	6	157522425	157522425	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr6:157522425G>A	ENST00000350026.5	+	17	4659	c.4658G>A	c.(4657-4659)cGc>cAc	p.R1553H	ARID1B_ENST00000275248.4_Missense_Mutation_p.R1548H|ARID1B_ENST00000367148.1_Missense_Mutation_p.R1606H|ARID1B_ENST00000346085.5_Missense_Mutation_p.R1566H	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1553	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.R1548H(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTGGAGAACCGCATGTCTCCA	0.622																																						ENST00000346085.5																			1	Substitution - Missense(1)	p.R1548H(1)	prostate(1)	NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4696-4698)cGc>cAc		AT rich interactive domain 1B (SWI1-like)							109.0	109.0	109.0					6																	157522425		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157522425G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4658G>A	6.37:g.157522425G>A	ENSP00000055163:p.Arg1553His					ARID1B_ENST00000275248.4_Missense_Mutation_p.R1548H|ARID1B_ENST00000367148.1_Missense_Mutation_p.R1606H|ARID1B_ENST00000350026.5_Missense_Mutation_p.R1553H	p.R1566H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4698	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1553			Pro-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.4697G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484469	0.63962	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02421	4.61;4.62;4.6;4.6;4.3	4.94	4.94	0.65067	.	0.183542	0.46442	D	0.000292	T	0.06325	0.0163	L	0.41824	1.3	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.959;0.982;0.982	T	0.46275	-0.9203	10	0.52906	T	0.07	.	18.5459	0.91045	0.0:0.0:1.0:0.0	.	1553;1566;1548	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	H	1566;1553;1606;1548;1075	ENSP00000344546:R1566H;ENSP00000055163:R1553H;ENSP00000356116:R1606H;ENSP00000275248:R1548H;ENSP00000412835:R1075H	ENSP00000275248:R1548H	R	+	2	0	ARID1B	157564117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.256000	0.78350	2.459000	0.83118	0.655000	0.94253	CGC		0.622	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		4	168	0	0	0	0.009096	0	4	168				
KCNB1	3745	broad.mit.edu	37	20	47991220	47991220	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr20:47991220G>A	ENST00000371741.4	-	2	1043	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	293					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.R293C(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	ACCACGCGGCGGACATTCTGG	0.542																																						ENST00000371741.4																			1	Substitution - Missense(1)	p.R293C(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(877-879)Cgc>Tgc		potassium voltage-gated channel, Shab-related subfamily, member 1							88.0	82.0	84.0					20																	47991220		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47991220G>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.877C>T	20.37:g.47991220G>A	ENSP00000360806:p.Arg293Cys						p.R293C	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1043	-			293					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.877C>T	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648870	0.67358	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.98419	-4.92	6.02	6.02	0.97574	Ion transport (1);	0.122489	0.52532	D	0.000067	D	0.99177	0.9715	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99482	1.0948	10	0.72032	D	0.01	.	19.1188	0.93353	0.0:0.0:1.0:0.0	.	293	Q14721	KCNB1_HUMAN	C	293;248	ENSP00000360806:R293C	ENSP00000360806:R293C	R	-	1	0	KCNB1	47424627	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	6.528000	0.73807	2.865000	0.98341	0.655000	0.94253	CGC		0.542	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		3	89	0	0	0	0.009096	0	3	89				
ZNF622	90441	broad.mit.edu	37	5	16465318	16465318	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr5:16465318T>A	ENST00000308683.2	-	1	583	c.457A>T	c.(457-459)Aag>Tag	p.K153*		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	153					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K153*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CTGGCCTCCTTTGCAGGCGCT	0.642																																						ENST00000308683.2																			1	Substitution - Nonsense(1)	p.K153*(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(457-459)Aag>Tag		zinc finger protein 622							75.0	78.0	77.0					5																	16465318		2203	4300	6503	SO:0001587	stop_gained	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16465318T>A	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.457A>T	5.37:g.16465318T>A	ENSP00000310042:p.Lys153*						p.K153*	NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN			1	583	-			153						Nonsense_Mutation	SNP	ENST00000308683.2	37	c.457A>T	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419634	0.83559	.	.	ENSG00000173545	ENST00000308683	.	.	.	4.27	-1.05	0.10036	.	1.882610	0.01917	N	0.040271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.882	6.1335	0.20219	0.0:0.3026:0.2333:0.4641	.	.	.	.	X	153	.	ENSP00000310042:K153X	K	-	1	0	ZNF622	16518318	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.165000	0.09968	-0.520000	0.06435	-1.105000	0.02106	AAG		0.642	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		13	113	0	0	0	0.024245	0	13	113				
ZNF576	79177	broad.mit.edu	37	19	44103050	44103050	+	Silent	SNP	T	T	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr19:44103050T>C	ENST00000336564.4	+	3	307	c.153T>C	c.(151-153)cgT>cgC	p.R51R	SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000525771.1_Silent_p.R51R|IRGQ_ENST00000422989.1_5'Flank|ZNF576_ENST00000391965.2_Silent_p.R51R|ZNF576_ENST00000528387.1_Silent_p.R51R|ZNF576_ENST00000533118.1_Silent_p.R51R|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000529930.1_Silent_p.R51R	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	51					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R51R(1)		endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				TCCAGGAGCGTCACATGAAGC	0.647																																						ENST00000336564.4																			1	Substitution - coding silent(1)	p.R51R(1)	prostate(1)	endometrium(1)|prostate(1)	2						c.(151-153)cgT>cgC		zinc finger protein 576							78.0	91.0	87.0					19																	44103050		2203	4300	6503	SO:0001819	synonymous_variant	79177				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44103050T>C	AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"""Zinc fingers, C2H2-type"""	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.153T>C	19.37:g.44103050T>C						SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000525771.1_Silent_p.R51R|ZNF576_ENST00000528387.1_Silent_p.R51R|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000391965.2_Silent_p.R51R|ZNF576_ENST00000533118.1_Silent_p.R51R|ZNF576_ENST00000529930.1_Silent_p.R51R	p.R51R	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN			3	307	+		Prostate(69;0.0199)	51					Q9BU03	Silent	SNP	ENST00000336564.4	37	c.153T>C	CCDS12625.1																																																																																				0.647	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	NM_024327		4	143	0	0	0	0.021553	0	4	143				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			0							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	112	0	0	0	0.004672	0	3	112				
RDM1	201299	broad.mit.edu	37	17	34249537	34249537	+	Intron	SNP	T	T	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr17:34249537T>G	ENST00000293273.6	-	5	713				RDM1_ENST00000394528.3_Nonstop_Mutation_p.*237Y|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000394529.3_Intron|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000394527.1_3'UTR|RDM1_ENST00000431884.2_Intron|RDM1_ENST00000419453.2_Intron|RDM1_ENST00000430160.2_Nonstop_Mutation_p.*214Y	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1						DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.*237Y(1)		breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTTTATTTGCTTACTGAAACT	0.318								Other identified genes with known or suspected DNA repair function																														ENST00000430160.2																			1	Nonstop extension(1)	p.*237Y(1)	prostate(1)	breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9						c.(640-642)taA>taC	Other identified genes with known or suspected DNA repair function	RAD52 motif 1							89.0	91.0	90.0					17																	34249537		2203	4300	6503	SO:0001627	intron_variant	201299				DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding	g.chr17:34249537T>G	AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"""RNA binding motif (RRM) containing"""	19950	protein-coding gene	gene with protein product		612896	"""RAD52 homolog B (S. cerevisiae)"", ""RAD52 motif 1"""	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.667+43A>C	17.37:g.34249537T>G						RDM1_ENST00000591402.1_Intron|RDM1_ENST00000293273.6_Intron|RDM1_ENST00000431884.2_Intron|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000419453.2_Intron|RDM1_ENST00000394527.1_3'UTR|RDM1_ENST00000394528.3_Nonstop_Mutation_p.*237Y|RDM1_ENST00000394529.3_Intron	p.*214Y			Q8NG50	RDM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	4	1112	-		Ovarian(249;0.17)	0					A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Nonstop_Mutation	SNP	ENST00000293273.6	37	c.642A>C	CCDS11301.1	.	.	.	.	.	.	.	.	.	.	T	1.918	-0.449017	0.04572	.	.	ENSG00000187456	ENST00000430160;ENST00000394528	.	.	.	3.36	1.11	0.20524	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6144	0.22769	0.0:0.2416:0.0:0.7584	.	.	.	.	Y	214;237	.	.	X	-	3	2	RDM1	31273650	0.029000	0.19370	0.001000	0.08648	0.001000	0.01503	-0.135000	0.10420	0.055000	0.16094	-1.811000	0.00612	TAA		0.318	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2	NM_145654		15	94	0	0	0	0.020292	0	15	94				
TSPAN33	340348	broad.mit.edu	37	7	128807390	128807390	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr7:128807390G>A	ENST00000289407.4	+	7	848	c.739G>A	c.(739-741)Gcc>Acc	p.A247T	RP11-286H14.6_ENST00000498745.1_RNA|Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	247					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)	p.A247T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TCTAGGCCTGGCCATCCCCCA	0.507																																						ENST00000289407.4																			1	Substitution - Missense(1)	p.A247T(1)	prostate(1)	NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(739-741)Gcc>Acc		tetraspanin 33							152.0	145.0	147.0					7																	128807390		2203	4300	6503	SO:0001583	missense	340348					integral to membrane		g.chr7:128807390G>A		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"""Tetraspanins"""	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.739G>A	7.37:g.128807390G>A	ENSP00000289407:p.Ala247Thr						p.A247T	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN			7	848	+			247						Missense_Mutation	SNP	ENST00000289407.4	37	c.739G>A	CCDS5810.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597768	0.66332	.	.	ENSG00000158457	ENST00000289407	D	0.81996	-1.56	5.72	5.72	0.89469	.	0.101382	0.64402	D	0.000002	D	0.88314	0.6403	M	0.83953	2.67	0.58432	D	0.99999	B	0.31153	0.31	B	0.41813	0.367	D	0.87937	0.2714	10	0.66056	D	0.02	-0.6054	17.3806	0.87403	0.0:0.0:1.0:0.0	.	247	Q86UF1	TSN33_HUMAN	T	247	ENSP00000289407:A247T	ENSP00000289407:A247T	A	+	1	0	TSPAN33	128594626	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.279000	0.65597	2.709000	0.92574	0.655000	0.94253	GCC		0.507	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		4	137	0	0	0	0.014758	0	4	137				
PCDHGA1	56114	broad.mit.edu	37	5	140711178	140711178	+	Silent	SNP	C	C	T	rs148638556		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr5:140711178C>T	ENST00000517417.1	+	1	927	c.927C>T	c.(925-927)ttC>ttT	p.F309F	PCDHGA1_ENST00000378105.3_Silent_p.F309F|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	309	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F309F(3)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTAGATTTCGAAGAATACA	0.373																																						ENST00000517417.1																			3	Substitution - coding silent(3)	p.F309F(3)	prostate(2)|large_intestine(1)	breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(925-927)ttC>ttT				C	,	2,4404	4.2+/-10.8	0,2,2201	56.0	57.0	57.0		927,927	-5.8	0.9	5	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PCDHGA1	NM_018912.2,NM_031993.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	309/932,309/824	140711178	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140711178C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.927C>T	5.37:g.140711178C>T						PCDHGA1_ENST00000378105.3_Silent_p.F309F	p.F309F	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	927	+								Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.927C>T	CCDS54922.1																																																																																				0.373	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		6	44	0	0	0	0.021553	0	6	44				
CDK5RAP2	55755	broad.mit.edu	37	9	123171436	123171436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr9:123171436C>A	ENST00000349780.4	-	30	4752	c.4573G>T	c.(4573-4575)Gag>Tag	p.E1525*	CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.E1493*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.E1525*|CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.E1484*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1525					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.E1525*(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAGCGGACCTCCTGGATCAGC	0.612																																						ENST00000349780.4																			1	Substitution - Nonsense(1)	p.E1525*(1)	prostate(1)	breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(4573-4575)Gag>Tag		CDK5 regulatory subunit associated protein 2							186.0	139.0	155.0					9																	123171436		2203	4300	6503	SO:0001587	stop_gained	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123171436C>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4573G>T	9.37:g.123171436C>A	ENSP00000343818:p.Glu1525*					CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.E1493*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.E1525*|CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.E1484*	p.E1525*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			30	4752	-			1525					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Nonsense_Mutation	SNP	ENST00000349780.4	37	c.4573G>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	37	6.206363	0.97376	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	.	.	.	4.73	4.73	0.59995	.	0.247697	0.28327	N	0.015754	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.606	0.62048	0.0:0.845:0.155:0.0	.	.	.	.	X	1493;1484;1525;1525;919;535;1297	.	ENSP00000341695:E1297X	E	-	1	0	CDK5RAP2	122211257	0.954000	0.32549	0.997000	0.53966	0.576000	0.36127	2.671000	0.46842	2.344000	0.79699	0.467000	0.42956	GAG		0.612	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		5	70	1	0	0.014758	0.014758	0.0156435	5	70				
GPR128	84873	broad.mit.edu	37	3	100373726	100373726	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr3:100373726T>C	ENST00000273352.3	+	12	1695	c.1427T>C	c.(1426-1428)aTa>aCa	p.I476T	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.I181T	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	476					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I476T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AATCTGTGCATATCAATGTTG	0.323																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			1	Substitution - Missense(1)	p.I476T(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1426-1428)aTa>aCa		G protein-coupled receptor 128							102.0	97.0	98.0					3																	100373726		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100373726T>C	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1427T>C	3.37:g.100373726T>C	ENSP00000273352:p.Ile476Thr					GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.I181T	p.I476T	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			12	1695	+			476					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1427T>C	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.610012	0.00835	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.42131	0.98;0.98	5.48	-2.52	0.06346	GPCR, family 2-like (1);	1.045180	0.07482	N	0.904019	T	0.25457	0.0619	N	0.16166	0.38	0.09310	N	1	B;B	0.19583	0.037;0.013	B;B	0.21360	0.034;0.008	T	0.26430	-1.0103	10	0.27082	T	0.32	.	11.6476	0.51269	0.0:0.3261:0.0:0.6739	.	181;476	E9PHI0;Q96K78	.;GP128_HUMAN	T	476;181	ENSP00000273352:I476T;ENSP00000419788:I181T	ENSP00000273352:I476T	I	+	2	0	GPR128	101856416	0.000000	0.05858	0.010000	0.14722	0.481000	0.33189	-0.925000	0.03992	-0.623000	0.05618	-0.242000	0.12053	ATA		0.323	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			3	57	0	0	0	0.004672	0	3	57				
OR4D5	219875	broad.mit.edu	37	11	123811134	123811134	+	Missense_Mutation	SNP	G	G	A	rs564572858		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr11:123811134G>A	ENST00000307033.2	+	1	885	c.811G>A	c.(811-813)Gtc>Atc	p.V271I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V271I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACAAGGCCGTCTCTGTGCT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		22065	0.0		0.0	False		,,,				2504	0.001					ENST00000307033.2																			1	Substitution - Missense(1)	p.V271I(1)	prostate(1)	autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(811-813)Gtc>Atc		olfactory receptor, family 4, subfamily D, member 5							161.0	131.0	141.0					11																	123811134		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811134G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.811G>A	11.37:g.123811134G>A	ENSP00000305970:p.Val271Ile						p.V271I	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	885	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	271					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.811G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	8.169	0.791230	0.16258	.	.	ENSG00000171014	ENST00000307033	T	0.36878	1.23	5.49	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000538	T	0.25344	0.0616	L	0.37850	1.14	0.09310	N	1	B	0.14438	0.01	B	0.24006	0.05	T	0.16394	-1.0404	10	0.29301	T	0.29	-13.4657	7.0729	0.25189	0.1492:0.2545:0.5963:0.0	.	271	Q8NGN0	OR4D5_HUMAN	I	271	ENSP00000305970:V271I	ENSP00000305970:V271I	V	+	1	0	OR4D5	123316344	0.000000	0.05858	0.168000	0.22838	0.830000	0.47004	0.194000	0.17135	0.658000	0.30925	0.650000	0.86243	GTC		0.493	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		36	140	0	0	0	0.069456	0	36	140				
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							92.0	70.0	77.0					21																	11058322		692	1591	2283			85319							g.chr21:11058322C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058322C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	325	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	172	0	0	0	0.029380	0	5	172				
ASIC2	40	broad.mit.edu	37	17	32483118	32483118	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr17:32483118T>G	ENST00000359872.6	-	1	1195	c.434A>C	c.(433-435)cAc>cCc	p.H145P		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	145					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.H145P(1)								Amiloride(DB00594)	GGGTTTGTAGTGCTTGAAGTT	0.592																																						ENST00000359872.6																			1	Substitution - Missense(1)	p.H145P(1)	prostate(1)								c.(433-435)cAc>cCc		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						99.0	106.0	104.0					17																	32483118		2134	4258	6392	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483118T>G	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.434A>C	17.37:g.32483118T>G	ENSP00000352934:p.His145Pro						p.H145P	NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN			1	1195	-			145					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.434A>C	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	T	8.730	0.916408	0.17907	.	.	ENSG00000108684	ENST00000359872	T	0.62788	0.0	4.96	4.96	0.65561	.	.	.	.	.	T	0.43765	0.1262	N	0.16903	0.455	0.25616	N	0.986448	B	0.02656	0.0	B	0.08055	0.003	T	0.20140	-1.0284	9	0.31617	T	0.26	.	8.0485	0.30564	0.1806:0.0:0.0:0.8194	.	145	Q16515	ACCN1_HUMAN	P	145	ENSP00000352934:H145P	ENSP00000352934:H145P	H	-	2	0	ACCN1	29507231	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.204000	0.51082	2.069000	0.61940	0.533000	0.62120	CAC		0.592	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		16	132	0	0	0	0.033300	0	16	132				
DVL1	1855	broad.mit.edu	37	1	1271546	1271546	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr1:1271546G>A	ENST00000378888.5	-	15	2348	c.2064C>T	c.(2062-2064)tgC>tgT	p.C688C	DVL1_ENST00000378891.5_Silent_p.C663C			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	688					axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)	p.C663C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGAAGAACTCGCAGGGGTTCC	0.692																																						ENST00000378888.5																			1	Substitution - coding silent(1)	p.C663C(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(2062-2064)tgC>tgT		dishevelled segment polarity protein 1																																				SO:0001819	synonymous_variant	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1271546G>A	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.2064C>T	1.37:g.1271546G>A						DVL1_ENST00000378891.5_Silent_p.C663C	p.C688C			O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	15	2348	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	688					Q5TA33|Q5TA35	Silent	SNP	ENST00000378888.5	37	c.2064C>T																																																																																					0.692	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		3	11	0	0	0	0.014758	0	3	11				
SRPK1	6732	broad.mit.edu	37	6	35810383	35810383	+	Splice_Site	SNP	T	T	A	rs372527508|rs371577081	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr6:35810383T>A	ENST00000373825.2	-	14	1906		c.e14-2		SRPK1_ENST00000423325.2_Splice_Site|SRPK1_ENST00000373822.1_Splice_Site					SRSF protein kinase 1									p.?(2)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCAAAGGCCTAAAAAAAAAA	0.418																																					NSCLC(31;67 978 16289 24856 26454)	ENST00000373825.2																			2	Unknown(2)	p.?(2)	prostate(2)	endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.e14-2		SRSF protein kinase 1							55.0	50.0	52.0					6																	35810383		1838	4093	5931	SO:0001630	splice_region_variant	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35810383T>A	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1621-2A>T	6.37:g.35810383T>A						SRPK1_ENST00000373822.1_Splice_Site|SRPK1_ENST00000423325.2_Splice_Site				Q96SB4	SRPK1_HUMAN			14	1906	-									Splice_Site	SNP	ENST00000373825.2	37		CCDS47415.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331210	0.81690	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1951	0.73081	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SRPK1	35918361	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	7.651000	0.83577	2.051000	0.60960	0.402000	0.26972	.		0.418	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137	Intron	3	45	0	0	0	0.009096	0	3	45				
NIPBL	25836	broad.mit.edu	37	5	37038824	37038824	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr5:37038824T>A	ENST00000282516.8	+	34	6591	c.6092T>A	c.(6091-6093)cTt>cAt	p.L2031H	NIPBL_ENST00000448238.2_Missense_Mutation_p.L2031H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2031					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.L2031H(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAACCATACCTTACCACTAAA	0.348																																						ENST00000282516.8																			2	Substitution - Missense(2)	p.L2031H(2)	prostate(2)	autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(6091-6093)cTt>cAt		Nipped-B homolog (Drosophila)							89.0	81.0	84.0					5																	37038824		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37038824T>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6092T>A	5.37:g.37038824T>A	ENSP00000282516:p.Leu2031His					NIPBL_ENST00000448238.2_Missense_Mutation_p.L2031H	p.L2031H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		34	6591	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2031					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.6092T>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234359	0.79800	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.75367	-0.93;-0.93	4.95	4.95	0.65309	Armadillo-like helical (1);Armadillo-type fold (1);	0.146527	0.47093	D	0.000258	D	0.87884	0.6290	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90050	0.4148	10	0.62326	D	0.03	-1.4723	14.9013	0.70681	0.0:0.0:0.0:1.0	.	2031;2031	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	2031	ENSP00000282516:L2031H;ENSP00000406266:L2031H	ENSP00000282516:L2031H	L	+	2	0	NIPBL	37074581	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.648000	0.83479	1.970000	0.57323	0.528000	0.53228	CTT		0.348	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		5	51	0	0	0	0.014758	0	5	51				
OR5T2	219464	broad.mit.edu	37	11	55999741	55999741	+	Silent	SNP	C	C	T	rs201143815		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr11:55999741C>T	ENST00000313264.4	-	1	996	c.921G>A	c.(919-921)tcG>tcA	p.S307S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S307S(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGTCATGGTCCGAAGCATAGC	0.408																																						ENST00000313264.4																			1	Substitution - coding silent(1)	p.S307S(1)	prostate(1)	endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(919-921)tcG>tcA		olfactory receptor, family 5, subfamily T, member 2							196.0	172.0	180.0					11																	55999741		2201	4296	6497	SO:0001819	synonymous_variant	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55999741C>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.921G>A	11.37:g.55999741C>T							p.S307S	NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN			1	996	-	Esophageal squamous(21;0.00448)		307					B9EGX5|Q6IFC8	Silent	SNP	ENST00000313264.4	37	c.921G>A	CCDS31523.1																																																																																				0.408	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		6	143	0	0	0	0.029380	0	6	143				
OR10K2	391107	broad.mit.edu	37	1	158390384	158390384	+	Silent	SNP	G	G	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr1:158390384G>T	ENST00000314902.2	-	1	272	c.273C>A	c.(271-273)acC>acA	p.T91T		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T91T(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGAAAGAAATGGTCTTCTTCT	0.478																																						ENST00000314902.2																			1	Substitution - coding silent(1)	p.T91T(1)	prostate(1)	NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(271-273)acC>acA		olfactory receptor, family 10, subfamily K, member 2							180.0	175.0	177.0					1																	158390384		2203	4298	6501	SO:0001819	synonymous_variant	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390384G>T	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.273C>A	1.37:g.158390384G>T							p.T91T	NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN			1	272	-	all_hematologic(112;0.0378)		91						Silent	SNP	ENST00000314902.2	37	c.273C>A	CCDS30896.1																																																																																				0.478	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		17	262	1	0	9.16793e-09	0.033300	1.01229e-08	17	262				
FAM83H	286077	broad.mit.edu	37	8	144811144	144811144	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr8:144811144T>C	ENST00000388913.3	-	4	855	c.730A>G	c.(730-732)Agc>Ggc	p.S244G		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	244					biomineral tissue development (GO:0031214)			p.S244G(1)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CACCTGTAGCTCCCACTCATC	0.662																																						ENST00000388913.3																			1	Substitution - Missense(1)	p.S244G(1)	prostate(1)	central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(730-732)Agc>Ggc		family with sequence similarity 83, member H							61.0	74.0	70.0					8																	144811144		2091	4206	6297	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144811144T>C	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.730A>G	8.37:g.144811144T>C	ENSP00000373565:p.Ser244Gly						p.S244G	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		4	855	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		244					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.730A>G	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	t	23.1	4.375347	0.82682	.	.	ENSG00000180921	ENST00000388913	T	0.32515	1.45	4.91	4.91	0.64330	.	0.333887	0.34750	N	0.003708	T	0.48390	0.1497	M	0.76838	2.35	0.24988	N	0.99156	P	0.48162	0.906	P	0.52343	0.696	T	0.49978	-0.8881	10	0.87932	D	0	.	14.0383	0.64658	0.0:0.0:0.0:1.0	.	244	Q6ZRV2	FA83H_HUMAN	G	244	ENSP00000373565:S244G	ENSP00000373565:S244G	S	-	1	0	FAM83H	144883132	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.794000	0.55492	1.970000	0.57323	0.454000	0.30748	AGC		0.662	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		8	108	0	0	0	0.047766	0	8	108				
ATG10	83734	broad.mit.edu	37	5	81354375	81354375	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr5:81354375C>G	ENST00000282185.3	+	3	464	c.170C>G	c.(169-171)tCa>tGa	p.S57*	ATG10_ENST00000513443.1_Nonsense_Mutation_p.S57*|ATG10_ENST00000458350.3_Nonsense_Mutation_p.S57*|ATG10_ENST00000355178.4_Nonsense_Mutation_p.S57*|ATG10_ENST00000513634.1_Nonsense_Mutation_p.S57*	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	57					autophagy (GO:0006914)|autophagy in response to ER overload (GO:0034263)|positive regulation of protein modification process (GO:0031401)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	Atg12 ligase activity (GO:0019777)	p.S57*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		TCTGTGATGTCACATCTAGGA	0.373																																						ENST00000282185.3																			1	Substitution - Nonsense(1)	p.S57*(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9						c.(169-171)tCa>tGa		autophagy related 10							183.0	183.0	183.0					5																	81354375		2203	4300	6503	SO:0001587	stop_gained	83734				autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding	g.chr5:81354375C>G	AK024016	CCDS4057.1	5q14.1	2014-02-12	2012-06-06	2005-09-11	ENSG00000152348	ENSG00000152348			20315	protein-coding gene	gene with protein product		610800	"""APG10 autophagy 10-like (S. cerevisiae)"", ""ATG10 autophagy related 10 homolog (S. cerevisiae)"""	APG10L			Standard	NM_031482		Approved	DKFZP586I0418, FLJ13954	uc003khr.3	Q9H0Y0	OTTHUMG00000119041	ENST00000282185.3:c.170C>G	5.37:g.81354375C>G	ENSP00000282185:p.Ser57*					ATG10_ENST00000458350.3_Nonsense_Mutation_p.S57*|ATG10_ENST00000513443.1_Nonsense_Mutation_p.S57*|ATG10_ENST00000355178.4_Nonsense_Mutation_p.S57*|ATG10_ENST00000513634.1_Nonsense_Mutation_p.S57*	p.S57*	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)	3	464	+		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)	57					B2RE09|Q6PIX1|Q9H842	Nonsense_Mutation	SNP	ENST00000282185.3	37	c.170C>G	CCDS4057.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263119	0.95399	.	.	ENSG00000152348	ENST00000355178;ENST00000282185;ENST00000458350;ENST00000513443;ENST00000513634	.	.	.	5.47	5.47	0.80525	.	1.156020	0.06239	N	0.690087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	15.1879	0.73020	0.0:1.0:0.0:0.0	.	.	.	.	X	57	.	ENSP00000282185:S57X	S	+	2	0	ATG10	81390131	0.015000	0.18098	0.012000	0.15200	0.010000	0.07245	3.290000	0.51755	2.729000	0.93468	0.557000	0.71058	TCA		0.373	ATG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239252.2	NM_001131028		28	227	0	0	0	0.037714	0	28	227				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G								NR_027293.1						0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	61	0	0	0	0.004672	0	3	61				
P4HTM	54681	broad.mit.edu	37	3	49028271	49028271	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr3:49028271G>A	ENST00000383729.4	+	2	731	c.360G>A	c.(358-360)ggG>ggA	p.G120G	P4HTM_ENST00000343546.4_Silent_p.G120G|RP13-131K19.2_ENST00000452042.1_RNA|P4HTM_ENST00000609406.1_3'UTR	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	120						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.G120G(2)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CTTAGGTGGGGCACGAGCGTA	0.662																																						ENST00000343546.4																			2	Substitution - coding silent(2)	p.G120G(2)	prostate(2)	NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(358-360)ggG>ggA		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)						55.0	39.0	44.0					3																	49028271		2203	4300	6503	SO:0001819	synonymous_variant	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49028271G>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.360G>A	3.37:g.49028271G>A						P4HTM_ENST00000468374.1_3'UTR|P4HTM_ENST00000383729.4_Silent_p.G120G	p.G120G	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			2	728	+			120					Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Silent	SNP	ENST00000383729.4	37	c.360G>A	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512447	0.27123	.	.	ENSG00000178467	ENST00000444213	.	.	.	4.33	0.998	0.19857	.	.	.	.	.	T	0.41811	0.1175	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24225	-1.0166	4	.	.	.	-24.3214	1.0209	0.01517	0.2871:0.2856:0.2905:0.1368	.	.	.	.	T	72	.	.	A	+	1	0	P4HTM	49003275	0.903000	0.30736	0.983000	0.44433	0.958000	0.62258	-0.043000	0.12043	0.183000	0.20059	0.462000	0.41574	GCA		0.662	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		3	26	0	0	0	0.004672	0	3	26				
ABCC11	85320	broad.mit.edu	37	16	48258247	48258247	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr16:48258247C>G	ENST00000394747.1	-	4	838	c.489G>C	c.(487-489)ttG>ttC	p.L163F	ABCC11_ENST00000356608.2_Missense_Mutation_p.L163F|ABCC11_ENST00000353782.5_Missense_Mutation_p.L163F|ABCC11_ENST00000394748.1_Missense_Mutation_p.L163F|ABCC11_ENST00000537808.1_Missense_Mutation_p.L163F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	163	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.L163F(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CATCGAAAATCAACCTTGTTC	0.507																																						ENST00000394747.1																			2	Substitution - Missense(2)	p.L163F(2)	large_intestine(1)|prostate(1)	breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(487-489)ttG>ttC		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							125.0	104.0	111.0					16																	48258247		2200	4300	6500	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48258247C>G	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.489G>C	16.37:g.48258247C>G	ENSP00000378230:p.Leu163Phe					ABCC11_ENST00000537808.1_Missense_Mutation_p.L163F|ABCC11_ENST00000394748.1_Missense_Mutation_p.L163F|ABCC11_ENST00000356608.2_Missense_Mutation_p.L163F|ABCC11_ENST00000353782.5_Missense_Mutation_p.L163F	p.L163F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			4	838	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	163			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.489G>C	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	9.728	1.161510	0.21538	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	4.39	0.942	0.19525	ABC transporter, transmembrane domain, type 1 (1);	0.932371	0.09020	N	0.860290	T	0.32704	0.0838	N	0.11560	0.145	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.0;0.004	T	0.16689	-1.0394	10	0.05620	T	0.96	0.3991	10.222	0.43203	0.7573:0.2427:0.0:0.0	.	163;163	Q96J66-2;Q96J66	.;ABCCB_HUMAN	F	163	ENSP00000311326:L163F;ENSP00000349017:L163F;ENSP00000378231:L163F;ENSP00000378230:L163F;ENSP00000438530:L163F	ENSP00000311326:L163F	L	-	3	2	ABCC11	46815748	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	0.308000	0.19314	-0.051000	0.13334	0.460000	0.39030	TTG		0.507	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		8	25	0	0	0	0.038147	0	8	25				
INTS10	55174	broad.mit.edu	37	8	19690802	19690802	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr8:19690802G>A	ENST00000397977.3	+	12	1898	c.1500G>A	c.(1498-1500)gcG>gcA	p.A500A		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	500					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.A500A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TCCAGCTGGCGACGTGCCACT	0.607																																						ENST00000397977.3																			1	Substitution - coding silent(1)	p.A500A(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(1498-1500)gcG>gcA		integrator complex subunit 10							36.0	41.0	40.0					8																	19690802		2111	4247	6358	SO:0001819	synonymous_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19690802G>A	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1500G>A	8.37:g.19690802G>A							p.A500A	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	12	1898	+			500					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	c.1500G>A	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	G	4.162	0.028632	0.08054	.	.	ENSG00000104613	ENST00000518799	.	.	.	5.37	-10.7	0.00240	.	.	.	.	.	T	0.59445	0.2194	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76833	-0.2813	4	.	.	.	-17.7037	15.0772	0.72084	0.5008:0.4313:0.0678:0.0	.	.	.	.	N	83	.	.	D	+	1	0	INTS10	19735082	0.000000	0.05858	0.002000	0.10522	0.419000	0.31324	-5.972000	0.00087	-3.956000	0.00087	-0.251000	0.11542	GAC		0.607	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		12	44	0	0	0	0.105934	0	12	44				
GOLGA6L7P	728310	broad.mit.edu	37	15	29092257	29092257	+	RNA	SNP	C	C	T	rs75388271		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr15:29092257C>T	ENST00000569815.1	-	0	258					NR_047567.1				golgin A6 family-like 7, pseudogene																		TCAGGGTTAGCGCCATGATTT	0.547																																						ENST00000569815.1																			0																																																			0							g.chr15:29092257C>T	AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29092257C>T								NR_047567.1						0	258	-									RNA	SNP	ENST00000569815.1	37																																																																																						0.547	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000431796.1	XR_078490		4	29	0	0	0	0.014758	0	4	29				
MST1L	11223	broad.mit.edu	37	1	17083671	17083671	+	RNA	SNP	C	C	G	rs1057420	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr1:17083671C>G	ENST00000455405.2	-	0	917							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										aagtcttGTCCTTGACTGTAC	0.403																																						ENST00000455405.2																			0																																																			0							g.chr1:17083671C>G	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083671C>G														0	917	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.403	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		6	69	0	0	0	0.029380	0	6	69				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	94	0	0	0	0.004672	0	3	94				
TXNIP	10628	broad.mit.edu	37	1	145439910	145439910	+	Silent	SNP	T	T	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr1:145439910T>C	ENST00000369317.4	+	3	790	c.456T>C	c.(454-456)aaT>aaC	p.N152N	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	152					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.N152N(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGATGTCAATACCCCTGATT	0.433																																						ENST00000369317.4																			1	Substitution - coding silent(1)	p.N152N(1)	prostate(1)	breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(454-456)aaT>aaC		thioredoxin interacting protein							88.0	93.0	91.0					1																	145439910		2203	4300	6503	SO:0001819	synonymous_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145439910T>C	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.456T>C	1.37:g.145439910T>C						TXNIP_ENST00000475171.1_Intron	p.N152N	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN			3	790	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		152					B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	ENST00000369317.4	37	c.456T>C	CCDS913.1																																																																																				0.433	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		32	128	0	0	0	0.045705	0	32	128				
LELP1	149018	broad.mit.edu	37	1	153177307	153177307	+	Missense_Mutation	SNP	C	C	T	rs573106359		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr1:153177307C>T	ENST00000368747.1	+	2	234	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	42	Cys/Pro-rich.							p.R42C(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGCTGCAACGCTGTTTCGA	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		19136	0.0		0.0	False		,,,				2504	0.001					ENST00000368747.1																			2	Substitution - Missense(2)	p.R42C(2)	large_intestine(1)|prostate(1)	NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19						c.(124-126)Cgc>Tgc		late cornified envelope-like proline-rich 1							172.0	150.0	157.0					1																	153177307		2203	4300	6503	SO:0001583	missense	149018							g.chr1:153177307C>T		CCDS30869.1	1q21.3	2008-02-05			ENSG00000203784	ENSG00000203784			32046	protein-coding gene	gene with protein product		611042					Standard	NM_001010857		Approved		uc001fbl.4	Q5T871	OTTHUMG00000013935	ENST00000368747.1:c.124C>T	1.37:g.153177307C>T	ENSP00000357736:p.Arg42Cys						p.R42C	NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	234	+	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		42			Cys/Pro-rich.		A1L4E1	Missense_Mutation	SNP	ENST00000368747.1	37	c.124C>T	CCDS30869.1	.	.	.	.	.	.	.	.	.	.	C	8.982	0.975532	0.18736	.	.	ENSG00000203784	ENST00000368747	.	.	.	5.41	3.53	0.40419	.	0.000000	0.39407	N	0.001373	T	0.60235	0.2253	.	.	.	0.38639	D	0.951557	D	0.89917	1.0	D	0.67382	0.951	T	0.64153	-0.6474	8	0.56958	D	0.05	-16.5011	6.4963	0.22144	0.1797:0.7304:0.0:0.0899	.	42	Q5T871	LELP1_HUMAN	C	42	.	ENSP00000357736:R42C	R	+	1	0	LELP1	151443931	0.972000	0.33761	0.994000	0.49952	0.613000	0.37349	0.691000	0.25467	0.826000	0.34661	0.561000	0.74099	CGC		0.552	LELP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039104.1	NM_001010857		13	178	0	0	0	0.105934	0	13	178				
MED12	9968	broad.mit.edu	37	X	70356862	70356862	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chrX:70356862A>C	ENST00000374080.3	+	38	5566	c.5534A>C	c.(5533-5535)aAc>aCc	p.N1845T	MED12_ENST00000333646.6_Missense_Mutation_p.N1845T|MED12_ENST00000374102.1_Missense_Mutation_p.N1845T			Q93074	MED12_HUMAN	mediator complex subunit 12	1845	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TACACCCAGAACCAGCCACTA	0.567			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(5533-5535)aAc>aCc		mediator complex subunit 12							16.0	18.0	18.0					X																	70356862		2003	4154	6157	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70356862A>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.5534A>C	X.37:g.70356862A>C	ENSP00000363193:p.Asn1845Thr					MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_Missense_Mutation_p.N1845T|MED12_ENST00000374080.3_Missense_Mutation_p.N1845T	p.N1845T	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			38	5733	+	Renal(35;0.156)		1845			Interaction with CTNNB1 and GLI3.		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.5534A>C	CCDS43970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	16.49|16.49	3.138709|3.138709	0.56936|0.56936	.|.	.|.	ENSG00000184634|ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750|ENST00000444034	T;T;T;T;T|.	0.60040|.	0.22;0.24;0.24;0.24;1.2|.	3.78|3.78	3.78|3.78	0.43462|0.43462	Mediator complex, subunit Med12, catenin-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64472|0.64472	0.2601|0.2601	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.62365|.	0.989;0.991;0.989;0.991|.	D;D;D;D|.	0.74023|.	0.969;0.982;0.969;0.982|.	T|T	0.64118|0.64118	-0.6482|-0.6482	10|5	0.46703|.	T|.	0.11|.	-16.0047|-16.0047	12.2263|12.2263	0.54461|0.54461	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1845;1692;1845;1845|.	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074|.	.;.;.;MED12_HUMAN|.	T|P	1845;1845;1845;1845;1813;590|66	ENSP00000333125:N1845T;ENSP00000363215:N1845T;ENSP00000363193:N1845T;ENSP00000414203:N1813T;ENSP00000408388:N590T|.	ENSP00000333125:N1845T|.	N|T	+|+	2|1	0|0	MED12|MED12	70273587|70273587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	6.805000|6.805000	0.75191|0.75191	1.517000|1.517000	0.48917|0.48917	0.390000|0.390000	0.25778|0.25778	AAC|ACC		0.567	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		3	5	0	0	0	0.009096	0	3	5				
CLTCL1	8218	broad.mit.edu	37	22	19241488	19241488	+	Silent	SNP	C	C	T	rs190950286	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr22:19241488C>T	ENST00000263200.10	-	3	585	c.513G>A	c.(511-513)tcG>tcA	p.S171S	CLTCL1_ENST00000427926.1_Silent_p.S171S|CLTCL1_ENST00000353891.5_Silent_p.S171S	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	171	Globular terminal domain.|WD40-like repeat 4.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TTACCTGAGCCGAGATGCCTA	0.478			T	?	ALCL								C|||	12	0.00239617	0.0023	0.0058	5008	,	,		16762	0.0		0.005	False		,,,				2504	0.0					ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(511-513)tcG>tcA		clathrin, heavy chain-like 1		C	,	4,3888		0,4,1942	29.0	29.0	29.0		513,513	-8.4	0.8	22		29	54,8236		0,54,4091	yes	coding-synonymous,coding-synonymous	CLTCL1	NM_001835.3,NM_007098.3	,	0,58,6033	TT,TC,CC		0.6514,0.1028,0.4761	,	171/1584,171/1641	19241488	58,12124	1946	4145	6091	SO:0001819	synonymous_variant	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19241488C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.513G>A	22.37:g.19241488C>T						CLTCL1_ENST00000427926.1_Silent_p.S171S|CLTCL1_ENST00000353891.5_Silent_p.S171S	p.S171S	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			3	585	-	Colorectal(54;0.0993)		171			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	c.513G>A	CCDS46662.1																																																																																				0.478	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		10	11	0	0	0	0.069234	0	10	11				
UBA6-AS1	550112	broad.mit.edu	37	4	68632418	68632419	+	RNA	INS	-	-	ACACACACAT	rs141790878|rs2627241		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr4:68632418_68632419insACACACACAT	ENST00000500538.2	+	0	1905				UBA6-AS1_ENST00000502758.1_RNA					UBA6 antisense RNA 1 (head to head)																		cacacacacacaTATATATAct	0.431																																						ENST00000500538.2																			0																																																			0							g.chr4:68632418_68632419insACACACACAT			4q13.2	2014-01-15			ENSG00000248049	ENSG00000248049		"""Long non-coding RNAs"""	49083	non-coding RNA	RNA, long non-coding							Standard	NR_015439		Approved	LOC550112			OTTHUMG00000160769		4.37:g.68632418_68632419insACACACACAT						RP11-453E17.1_ENST00000502758.1_RNA								0	1905	+									RNA	INS	ENST00000500538.2	37																																																																																						0.431	UBA6-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000362199.2			12	5						12	5	---	---	---	---
FAM66D	100132923	broad.mit.edu	37	8	11990647	11990648	+	RNA	INS	-	-	GTTTGTT			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:11990647_11990648insGTTTGTT	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		ATTCTTGGCAAGTTTGTTGCCT	0.485																																						ENST00000434078.2																			0																																																			0							g.chr8:11990647_11990648insGTTTGTT			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11990648_11990654dupGTTTGTT								NR_027425.1						0	608	+									RNA	INS	ENST00000434078.2	37																																																																																						0.485	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		7	61						7	61	---	---	---	---
LINC00475	158314	broad.mit.edu	37	9	94904432	94904432	+	RNA	DEL	G	G	-	rs34310564	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr9:94904432delG	ENST00000416438.2	+	0	184				snoU13_ENST00000459125.1_RNA	NR_027341.1				long intergenic non-protein coding RNA 475																		GGCCTTCTTTGGGGGGGGGGT	0.612													|||unknown(HR)	1764	0.352236	0.3396	0.4957	5008	,	,		14095	0.371		0.2286	False		,,,				2504	0.3753					ENST00000416438.2																			0																																																			0							g.chr9:94904432delG	AK023662		9q22.31	2012-10-12	2011-08-31	2011-08-31	ENSG00000225511	ENSG00000225511		"""Long non-coding RNAs"""	23569	non-coding RNA	RNA, long non-coding			"""chromosome 9 open reading frame 44"""	C9orf44			Standard	NR_027341		Approved		uc004arp.1		OTTHUMG00000020216		9.37:g.94904432delG								NR_027341.1						0	184	+									RNA	DEL	ENST00000416438.2	37																																																																																						0.612	LINC00475-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000053051.2			4	3						4	3	---	---	---	---
HERC2P9	440248	broad.mit.edu	37	15	28913367	28913367	+	RNA	DEL	T	T	-			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr15:28913367delT	ENST00000528584.1	+	0	1224					NR_036443.1				hect domain and RLD 2 pseudogene 9																		TGAGTTCTCCTTTTTTTTTTT	0.308																																						ENST00000528584.1																			0																																																			0							g.chr15:28913367delT	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28913367delT								NR_036443.1						0	1224	+									RNA	DEL	ENST00000528584.1	37																																																																																						0.308	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		2	4						2	4	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.581																																						ENST00000561463.1																			0																																																			0							g.chr15:102292874_102292876delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292874_102292876delCTC														0	920_922	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.581	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	3						4	3	---	---	---	---
C17orf70	80233	broad.mit.edu	37	17	79518970	79518970	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:79518970delG	ENST00000327787.8	-	2	320	c.274delC	c.(274-276)cacfs	p.H92fs	C17orf70_ENST00000537152.1_5'UTR			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	92					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CTGCCCGGGTGGTCCAGCGAC	0.736																																						ENST00000327787.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(274-276)acfs		chromosome 17 open reading frame 70							4.0	6.0	5.0					17																	79518970		1739	3781	5520	SO:0001589	frameshift_variant	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79518970delG	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.274delC	17.37:g.79518970delG	ENSP00000333283:p.His92fs					C17orf70_ENST00000537152.1_5'UTR	p.H92fs			Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		2	320	-	all_neural(118;0.0878)|Melanoma(429;0.242)		92					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Frame_Shift_Del	DEL	ENST00000327787.8	37	c.274delC	CCDS32765.2																																																																																				0.736	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		2	4						2	4	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G	rs375659563		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.e36-1		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1																																				SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110455173_110455174insG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4394-1->G	8.37:g.110455175_110455175dupG		HNSCC(38;0.096)						NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		36	4497	+								Q567P2|Q9UF27	Splice_Site	INS	ENST00000378402.5	37		CCDS47911.1																																																																																				0.322	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron	9	130						9	130	---	---	---	---
RP11-83N9.5	0	broad.mit.edu	37	9	139000903	139000903	+	lincRNA	DEL	C	C	-			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr9:139000903delC	ENST00000566567.1	-	0	24																											cctctgccctccccgccctgc	0.682																																						ENST00000566567.1																			0																																																			0							g.chr9:139000903delC																													9.37:g.139000903delC														0	24	-									RNA	DEL	ENST00000566567.1	37																																																																																						0.682	RP11-83N9.5-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000431112.1			2	4						2	4	---	---	---	---
CHORDC2P	317775	broad.mit.edu	37	14	90203668	90203668	+	RNA	DEL	C	C	-	rs12897726|rs144915275		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr14:90203668delC	ENST00000555070.1	-	0	170																											CTCTTTCTTTCtttttttttt	0.368																																						ENST00000555070.1																			0																																																			0							g.chr14:90203668delC																													14.37:g.90203668delC														0	170	-									RNA	DEL	ENST00000555070.1	37																																																																																						0.368	RP11-33N16.3-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000411023.1			4	4						4	4	---	---	---	---
C17orf70	80233	broad.mit.edu	37	17	79518970	79518970	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr17:79518970delG	ENST00000327787.8	-	2	320	c.274delC	c.(274-276)cacfs	p.H92fs	C17orf70_ENST00000537152.1_5'UTR			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	92					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CTGCCCGGGTGGTCCAGCGAC	0.736																																						ENST00000327787.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(274-276)acfs		chromosome 17 open reading frame 70							4.0	6.0	5.0					17																	79518970		1739	3781	5520	SO:0001589	frameshift_variant	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79518970delG	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.274delC	17.37:g.79518970delG	ENSP00000333283:p.His92fs					C17orf70_ENST00000537152.1_5'UTR	p.H92fs			Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		2	320	-	all_neural(118;0.0878)|Melanoma(429;0.242)		92					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Frame_Shift_Del	DEL	ENST00000327787.8	37	c.274delC	CCDS32765.2																																																																																				0.736	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		2	4						2	4	---	---	---	---
IGLC3	3539	broad.mit.edu	37	22	23248852	23248852	+	RNA	DEL	A	A	-	rs71797740|rs200606818	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr22:23248852delA	ENST00000390325.2	+	0	341				IGLJ3_ENST00000390324.2_RNA			P0CG06	LAC3_HUMAN	immunoglobulin lambda constant 3 (Kern-Oz+ marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CTCACCCCCCACCACGGGAGA	0.572													-|A|-|insertion	1080	0.215655	0.1271	0.2565	5008	,	,		20361	0.3879		0.0974	False		,,,				2504	0.2505					ENST00000390325.2																			0																	813,2575		63,687,944						-2.4	0.0		dbSNP_130	7	1378,5566		50,1278,2144	no	intergenic				113,1965,3088	A1A1,A1R,RR		19.8445,23.9965,21.206				2191,8141						0							g.chr22:23248852delA	J00254		22q11.2	2012-02-08			ENSG00000211679	ENSG00000211679		"""Immunoglobulins / IGL locus"""	5857	other	immunoglobulin gene				IGLC			Standard	NG_000002		Approved			P0CG06	OTTHUMG00000151217		22.37:g.23248852delA														0	341	+								A0M8Q4|P80423	RNA	DEL	ENST00000390325.2	37																																																																																						0.572	IGLC3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000321821.3	NG_000002		7	20						7	20	---	---	---	---
