#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_filter	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRAMEF2	65122	broad.mit.edu	37	1	12921409	12921409	+	Silent	SNP	C	C	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr1:12921409C>T	ENST00000240189.2	+	4	1287	c.1200C>T	c.(1198-1200)caC>caT	p.H400H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	400					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.H400H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTGCGCCACACCAGTGGGC	0.557																																						uc001aum.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1198-1200)CAC>CAT		PRAME family member 2							66.0	69.0	68.0					1																	12921409		2202	4294	6496	SO:0001819	synonymous_variant	65122							g.chr1:12921409C>T		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1200C>T	1.37:g.12921409C>T							p.H400H	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1287	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	400						Silent	SNP	ENST00000240189.2	37	c.1200C>T	CCDS149.1																																																																																				PASS	0.557	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		22	58	22	58	---	---	---	---
SRSF11	9295	broad.mit.edu	37	1	70703197	70703197	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr1:70703197G>C	ENST00000370950.3	+	7	762	c.680G>C	c.(679-681)cGa>cCa	p.R227P	SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000370949.1_Missense_Mutation_p.R167P|SRSF11_ENST00000405432.1_Missense_Mutation_p.R227P|SRSF11_ENST00000370951.1_Missense_Mutation_p.R227P|SRSF11_ENST00000436161.2_3'UTR			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	227					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R227P(1)		large_intestine(3)|ovary(2)|skin(1)	6						AAAAGAGTACGAGAAGCACAG	0.368																																						uc001des.2																			1	Substitution - Missense(1)		lung(1)		0						c.(679-681)CGA>CCA		splicing factor, arginine/serine-rich 11							147.0	141.0	143.0					1																	70703197		2203	4300	6503	SO:0001583	missense	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70703197G>C	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.680G>C	1.37:g.70703197G>C	ENSP00000359988:p.Arg227Pro					SFRS11_uc001det.2_Missense_Mutation_p.R227P|SFRS11_uc001deu.2_Missense_Mutation_p.R227P|SFRS11_uc001dev.2_Missense_Mutation_p.R37P|SFRS11_uc001dew.2_Missense_Mutation_p.R167P	p.R227P	NM_004768	NP_004759	Q05519	SRS11_HUMAN			7	804	+			227					Q5T758|Q8IWE6	Missense_Mutation	SNP	ENST00000370950.3	37	c.680G>C	CCDS647.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321034	0.81580	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000395136;ENST00000370949	D;D;D;T;T	0.83755	-1.76;-1.76;-1.76;2.5;-0.54	5.61	5.61	0.85477	.	0.055317	0.64402	D	0.000003	D	0.91195	0.7226	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.995;0.995;0.995	D	0.91246	0.5025	10	0.59425	D	0.04	.	19.6248	0.95674	0.0:0.0:1.0:0.0	.	167;227;227;227	Q5T757;Q6PJB9;Q8IWE6;Q05519	.;.;.;SRS11_HUMAN	P	227;227;227;227;167	ENSP00000359989:R227P;ENSP00000359988:R227P;ENSP00000384357:R227P;ENSP00000378568:R227P;ENSP00000359987:R167P	ENSP00000359987:R167P	R	+	2	0	SRSF11	70475785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.631000	0.89168	0.655000	0.94253	CGA		PASS	0.368	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		12	34	12	34	---	---	---	---
CLCA1	1179	broad.mit.edu	37	1	86961341	86961341	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr1:86961341C>A	ENST00000234701.3	+	13	2447	c.2096C>A	c.(2095-2097)cCt>cAt	p.P699H	CLCA1_ENST00000394711.1_Missense_Mutation_p.P699H			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	699					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.P699H(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTGTACATACCTGGCTGGATT	0.473																																						uc001dlt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2095-2097)CCT>CAT		chloride channel accessory 1 precursor							71.0	71.0	71.0					1																	86961341		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86961341C>A		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.2096C>A	1.37:g.86961341C>A	ENSP00000234701:p.Pro699His						p.P699H	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	12	2225	+		Lung NSC(277;0.239)	699					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.2096C>A	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843632	0.71488	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.03242	4.0;4.0	5.69	4.75	0.60458	.	0.412733	0.25878	N	0.027702	T	0.09992	0.0245	M	0.87971	2.92	0.27681	N	0.946439	D	0.54207	0.965	P	0.57548	0.823	T	0.02852	-1.1102	10	0.87932	D	0	-0.1079	15.5712	0.76337	0.1431:0.8569:0.0:0.0	.	699	A8K7I4	CLCA1_HUMAN	H	699	ENSP00000234701:P699H;ENSP00000378200:P699H	ENSP00000234701:P699H	P	+	2	0	CLCA1	86733929	0.665000	0.27466	0.697000	0.30258	0.743000	0.42351	2.991000	0.49409	1.477000	0.48234	0.655000	0.94253	CCT		PASS	0.473	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		8	15	8	15	---	---	---	---
S1PR1	1901	broad.mit.edu	37	1	101705192	101705192	+	Missense_Mutation	SNP	G	G	T	rs200913242		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr1:101705192G>T	ENST00000305352.6	+	2	1027	c.652G>T	c.(652-654)Gtc>Ttc	p.V218F		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	218					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.V218F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCTCTCCATCGTCATTCTGTA	0.567																																						uc001dud.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(652-654)GTC>TTC		sphingosine-1-phosphate receptor 1							126.0	120.0	122.0					1																	101705192		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705192G>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.652G>T	1.37:g.101705192G>T	ENSP00000305416:p.Val218Phe					S1PR1_uc009weg.2_Missense_Mutation_p.V218F	p.V218F	NM_001400	NP_001391	P21453	S1PR1_HUMAN			2	1166	+			218			Helical; Name=5; (By similarity).		D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.652G>T	CCDS777.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498599	0.85069	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.72942	-0.7	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82651	0.5083	M	0.85945	2.785	0.80722	D	1	D	0.54601	0.967	P	0.61397	0.888	D	0.85369	0.1112	10	0.72032	D	0.01	.	18.9667	0.92700	0.0:0.0:1.0:0.0	.	218	P21453	S1PR1_HUMAN	F	218	ENSP00000305416:V218F	ENSP00000305416:V218F	V	+	1	0	S1PR1	101477780	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.472000	0.83506	0.449000	0.29647	GTC		PASS	0.567	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		27	60	27	60	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152127903	152127903	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr1:152127903G>C	ENST00000316073.3	-	3	1736	c.1672C>G	c.(1672-1674)Cac>Gac	p.H558D		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	558	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.H558D(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGACCGTAGTGGGAACTCTGG	0.507																																						uc001ezs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1672-1674)CAC>GAC		repetin							675.0	601.0	624.0					1																	152127903		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127903G>C	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1672C>G	1.37:g.152127903G>C	ENSP00000317895:p.His558Asp						p.H558D	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	1737	-			558			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1672C>G	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372946	0.42105	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.13778	2.56	4.6	3.66	0.41972	.	0.849278	0.09511	U	0.792306	T	0.09423	0.0232	M	0.82630	2.6	0.09310	N	1	P	0.45594	0.862	P	0.44477	0.451	T	0.33471	-0.9867	10	0.12766	T	0.61	-0.738	9.8575	0.41094	0.0:0.0:0.7946:0.2053	.	558	Q6XPR3	RPTN_HUMAN	D	558;213	ENSP00000317895:H558D	ENSP00000317895:H558D	H	-	1	0	RPTN	150394527	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.257000	0.18369	0.874000	0.35823	0.453000	0.30009	CAC		PASS	0.507	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		166	694	166	694	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158632635	158632635	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr1:158632635C>A	ENST00000368147.4	-	17	2501	c.2321G>T	c.(2320-2322)cGa>cTa	p.R774L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	774					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R774L(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCTTCAAATCGGCATACCAA	0.478																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2320-2322)CGA>CTA		spectrin, alpha, erythrocytic 1							96.0	95.0	96.0					1																	158632635		1902	4121	6023	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158632635C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2321G>T	1.37:g.158632635C>A	ENSP00000357129:p.Arg774Leu						p.R774L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			17	2520	-	all_hematologic(112;0.0378)		774			Spectrin 8.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2321G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337452	0.24253	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.39592	1.07;1.07	4.41	1.56	0.23342	.	0.295815	0.18537	N	0.138320	T	0.44286	0.1286	M	0.79258	2.445	0.44234	D	0.997079	D	0.64830	0.994	D	0.67231	0.95	T	0.38520	-0.9657	10	0.30854	T	0.27	.	7.21	0.25929	0.0:0.719:0.0:0.281	.	774	P02549	SPTA1_HUMAN	L	774	ENSP00000357130:R774L;ENSP00000357129:R774L	ENSP00000357129:R774L	R	-	2	0	SPTA1	156899259	0.007000	0.16637	0.220000	0.23810	0.005000	0.04900	0.496000	0.22499	0.154000	0.19237	-0.136000	0.14681	CGA		PASS	0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		9	63	9	63	---	---	---	---
FCER1A	2205	broad.mit.edu	37	1	159275988	159275989	+	Missense_Mutation	DNP	GG	GG	TT	rs537550419		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr1:159275988_159275989GG>TT	ENST00000368115.1	+	5	641_642	c.542_543GG>TT	c.(541-543)tGG>tTT	p.W181F	FCER1A_ENST00000368114.1_Missense_Mutation_p.W148F	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	181	Ig-like 2.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)	p.W181C(1)|p.W181F(1)|p.W181L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GGCAAAGTGTGGCAGCTGGACT	0.455																																						uc001ftq.2																			3	Substitution - Missense(3)		lung(3)	lung(2)|skin(2)|prostate(1)	5						c.(541-543)TGG>TTG|c.(541-543)TGG>TGT		Fc fragment of IgE, high affinity I, receptor	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)																																			SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159275988G>T|g.chr1:159275989G>T	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	Exception_encountered	1.37:g.159275988_159275989delinsTT	ENSP00000357097:p.Trp181Phe						p.W181L|p.W181C	NM_002001	NP_001992	P12319	FCERA_HUMAN			5	641|642	+	all_hematologic(112;0.0429)		181			Ig-like 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000368115.1	37	c.542G>T|c.543G>T	CCDS1184.1																																																																																				PASS	0.455	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		39|41	33|32	39	32	---	---	---	---
FCER1A	2205	broad.mit.edu	37	1	159277608	159277608	+	Silent	SNP	A	A	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr1:159277608A>G	ENST00000368115.1	+	6	759	c.660A>G	c.(658-660)acA>acG	p.T220T	FCER1A_ENST00000368114.1_Silent_p.T187T	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	220					activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)	p.T220T(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CTGTGGACACAGGATTATTTA	0.438																																						uc001ftq.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|prostate(1)	5						c.(658-660)ACA>ACG		Fc fragment of IgE, high affinity I, receptor	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						130.0	119.0	123.0					1																	159277608		2203	4300	6503	SO:0001819	synonymous_variant	2205					integral to plasma membrane		g.chr1:159277608A>G	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.660A>G	1.37:g.159277608A>G							p.T220T	NM_002001	NP_001992	P12319	FCERA_HUMAN			6	759	+	all_hematologic(112;0.0429)		220			Helical; (Potential).			Silent	SNP	ENST00000368115.1	37	c.660A>G	CCDS1184.1																																																																																				PASS	0.438	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		24	100	24	100	---	---	---	---
IGSF8	93185	broad.mit.edu	37	1	160064847	160064847	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr1:160064847T>A	ENST00000368086.1	-	2	470	c.254A>T	c.(253-255)cAg>cTg	p.Q85L	IGSF8_ENST00000314485.7_Missense_Mutation_p.Q85L|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	85	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q85L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ATAGGAGAACTGGGTATCCTT	0.597																																						uc001fva.2																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)CAG>CTG		immunoglobulin superfamily, member 8							85.0	81.0	83.0					1																	160064847		2203	4300	6503	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160064847T>A	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.254A>T	1.37:g.160064847T>A	ENSP00000357065:p.Gln85Leu					IGSF8_uc001fuz.2_Missense_Mutation_p.Q85L|IGSF8_uc009wtf.2_Missense_Mutation_p.Q85L	p.Q85L	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		2	299	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		85			Ig-like C2-type 1.|Extracellular (Potential).		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.254A>T	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	T	4.210	0.037819	0.08148	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.02631	4.22;4.22;4.22	5.36	0.342	0.15996	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.318283	0.28908	N	0.013749	T	0.00637	0.0021	N	0.22421	0.69	0.18873	N	0.999989	B	0.15719	0.014	B	0.18871	0.023	T	0.47005	-0.9150	10	0.42905	T	0.14	-2.1795	4.9822	0.14172	0.0:0.2853:0.2775:0.4373	.	85	Q969P0	IGSF8_HUMAN	L	85	ENSP00000316664:Q85L;ENSP00000357065:Q85L;ENSP00000397464:Q85L	ENSP00000316664:Q85L	Q	-	2	0	IGSF8	158331471	0.000000	0.05858	0.290000	0.24890	0.013000	0.08279	0.155000	0.16362	-0.235000	0.09767	-0.468000	0.05107	CAG		PASS	0.597	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		43	29	43	29	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197411333	197411333	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr1:197411333T>C	ENST00000367400.3	+	11	4051	c.3916T>C	c.(3916-3918)Tgt>Cgt	p.C1306R	RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000535699.1_Missense_Mutation_p.C1282R|CRB1_ENST00000367397.1_3'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.C770R|CRB1_ENST00000367399.2_Missense_Mutation_p.C1194R|CRB1_ENST00000544212.1_Missense_Mutation_p.C787R	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1306	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C1306R(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTCTGATCCGTGTGTCAATGG	0.493																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(3916-3918)TGT>CGT		crumbs homolog 1 precursor							299.0	281.0	287.0					1																	197411333		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197411333T>C		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3916T>C	1.37:g.197411333T>C	ENSP00000356370:p.Cys1306Arg					CRB1_uc010poz.1_Missense_Mutation_p.C1282R|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.C1194R|CRB1_uc010ppb.1_Missense_Mutation_p.C770R|CRB1_uc010ppd.1_Missense_Mutation_p.C787R|CRB1_uc001gub.1_3'UTR	p.C1306R	NM_201253	NP_957705	P82279	CRUM1_HUMAN			11	4051	+			1306			Extracellular (Potential).|EGF-like 19; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.3916T>C	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985539	0.74589	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000448952	D;D;D;D;D;D	0.99992	-12.4;-12.4;-12.4;-12.4;-12.4;-12.4	5.36	5.36	0.76844	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99994	0.9999	H	0.96748	3.875	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.995;0.987	D;D;D;D	0.97110	1.0;0.926;0.914;0.925	D	0.99988	1.3653	9	0.87932	D	0	.	15.3581	0.74443	0.0:0.0:0.0:1.0	.	770;1282;1194;1306	B7Z5T2;F5H0L2;P82279-3;P82279	.;.;.;CRUM1_HUMAN	R	1282;770;1306;1194;787;12	ENSP00000438786:C1282R;ENSP00000438091:C770R;ENSP00000356370:C1306R;ENSP00000356369:C1194R;ENSP00000444556:C787R;ENSP00000395407:C12R	ENSP00000356369:C1194R	C	+	1	0	CRB1	195677956	1.000000	0.71417	0.118000	0.21660	0.723000	0.41478	7.956000	0.87863	2.033000	0.60031	0.482000	0.46254	TGT		PASS	0.493	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		95	97	95	97	---	---	---	---
PTPN7	5778	broad.mit.edu	37	1	202128422	202128422	+	Nonsense_Mutation	SNP	G	G	A	rs149516769		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr1:202128422G>A	ENST00000308986.5	-	2	239	c.109C>T	c.(109-111)Cga>Tga	p.R37*	PTPN7_ENST00000367279.4_Nonsense_Mutation_p.R76*|PTPN7_ENST00000309017.3_Nonsense_Mutation_p.R142*|PTPN7_ENST00000543735.1_5'UTR|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000492977.1_5'Flank			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	37					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)	p.R76*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						TCCTGCAGTCGCACATGCTTC	0.632																																						uc001gxm.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(109-111)CGA>TGA		protein tyrosine phosphatase, non-receptor type							56.0	52.0	53.0					1																	202128422		2203	4300	6503	SO:0001587	stop_gained	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202128422G>A	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.109C>T	1.37:g.202128422G>A	ENSP00000311133:p.Arg37*					PTPN7_uc001gxl.1_Nonsense_Mutation_p.R76*|PTPN7_uc001gxn.1_Nonsense_Mutation_p.R37*|PTPN7_uc010ppv.1_5'UTR|PTPN7_uc010ppw.1_Silent_p.C2C|PTPN7_uc010ppx.1_Nonsense_Mutation_p.R111*|PTPN7_uc010ppy.1_RNA|PTPN7_uc001gxo.1_5'Flank	p.R37*	NM_002832	NP_002823	P35236	PTN7_HUMAN			2	240	-			37					B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Nonsense_Mutation	SNP	ENST00000308986.5	37	c.109C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.123397	0.94429	.	.	ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000477554;ENST00000476061;ENST00000467283;ENST00000464870;ENST00000435759;ENST00000486116;ENST00000492451	.	.	.	4.91	3.89	0.44902	.	0.000000	0.52532	D	0.000069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	13.936	0.64026	0.0:0.0:0.8379:0.1621	.	.	.	.	X	76;142;37;118;36;37;37;37;37;37	.	ENSP00000311133:R37X	R	-	1	2	PTPN7	200395045	0.213000	0.23551	1.000000	0.80357	0.214000	0.24535	0.363000	0.20301	2.277000	0.76020	0.555000	0.69702	CGA		PASS	0.632	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832		6	30	6	30	---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235345290	235345290	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr1:235345290C>A	ENST00000264183.3	-	20	3441	c.2944G>T	c.(2944-2946)Gta>Tta	p.V982L	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Missense_Mutation_p.V896L|ARID4B_ENST00000366603.2_Missense_Mutation_p.V982L	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	982					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V982L(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTAGTTCTACACTGGGTGAA	0.498																																						uc001hwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(2944-2946)GTA>TTA		AT rich interactive domain 4B isoform 1							128.0	132.0	130.0					1																	235345290		2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345290C>A	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2944G>T	1.37:g.235345290C>A	ENSP00000264183:p.Val982Leu					ARID4B_uc001hwr.2_Missense_Mutation_p.V896L|ARID4B_uc001hws.3_Missense_Mutation_p.V896L|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.V663L	p.V982L	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	3442	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	982					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.2944G>T	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	C	0.083	-1.180775	0.01633	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183	T;T;T	0.22539	1.96;1.95;1.95	5.1	0.834	0.18880	.	0.945300	0.08970	N	0.867400	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.31696	-0.9934	10	0.45353	T	0.12	-0.9866	3.542	0.07815	0.2226:0.3705:0.0:0.4069	.	663;982;896;982	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	L	982;896;982;982	ENSP00000264184:V896L;ENSP00000355562:V982L;ENSP00000264183:V982L	ENSP00000264183:V982L	V	-	1	0	ARID4B	233411913	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-0.189000	0.09629	0.310000	0.22990	0.585000	0.79938	GTA		PASS	0.498	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		33	149	33	149	---	---	---	---
RSAD2	91543	broad.mit.edu	37	2	7027158	7027158	+	Missense_Mutation	SNP	G	G	A	rs377040525		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr2:7027158G>A	ENST00000382040.3	+	3	737	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	RSAD2_ENST00000541728.1_Missense_Mutation_p.V94M	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2									p.V201M(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GAAGAACCATGTGGAAAACCT	0.448																																						uc002qyp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(601-603)GTG>ATG		radical S-adenosyl methionine domain containing							117.0	108.0	111.0					2																	7027158		2203	4300	6503	SO:0001583	missense	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7027158G>A	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.601G>A	2.37:g.7027158G>A	ENSP00000371471:p.Val201Met						p.V201M	NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	3	737	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		201						Missense_Mutation	SNP	ENST00000382040.3	37	c.601G>A	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361638	0.61403	.	.	ENSG00000134321	ENST00000442639;ENST00000382040;ENST00000541728	T;D;D	0.92199	-1.45;-2.99;-2.99	5.69	5.69	0.88448	Elongator protein 3/MiaB/NifB (1);Radical SAM (1);	0.204110	0.47093	D	0.000259	D	0.94896	0.8350	M	0.66939	2.045	0.48511	D	0.999664	D	0.60575	0.988	D	0.67725	0.953	D	0.94627	0.7818	10	0.56958	D	0.05	-39.5137	14.0237	0.64573	0.0722:0.0:0.9278:0.0	.	201	Q8WXG1	RSAD2_HUMAN	M	133;201;94	ENSP00000406427:V133M;ENSP00000371471:V201M;ENSP00000440859:V94M	ENSP00000371471:V201M	V	+	1	0	RSAD2	6944609	0.869000	0.29996	0.986000	0.45419	0.565000	0.35776	1.307000	0.33516	2.679000	0.91253	0.655000	0.94253	GTG		PASS	0.448	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		14	38	14	38	---	---	---	---
TMEM178A	130733	broad.mit.edu	37	2	39944267	39944267	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr2:39944267C>T	ENST00000281961.2	+	4	826	c.770C>T	c.(769-771)tCc>tTc	p.S257F	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	257						integral component of membrane (GO:0016021)		p.S257F(1)									TACAGCTGGTCCATCTTTTGC	0.488																																						uc002rrt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(769-771)TCC>TTC		transmembrane protein 178 precursor							224.0	203.0	210.0					2																	39944267		2203	4300	6503	SO:0001583	missense	130733					integral to membrane		g.chr2:39944267C>T	BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"""transmembrane protein 178"""	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.770C>T	2.37:g.39944267C>T	ENSP00000281961:p.Ser257Phe					TMEM178_uc010fam.1_Missense_Mutation_p.S211F	p.S257F	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN			4	795	+		all_hematologic(82;0.248)	257			Extracellular (Potential).		Q6UWI6|Q8N6N4	Missense_Mutation	SNP	ENST00000281961.2	37	c.770C>T	CCDS1804.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645279	0.87859	.	.	ENSG00000152154	ENST00000281961	D	0.86627	-2.15	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.92756	0.7697	M	0.69823	2.125	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.91882	0.5516	9	.	.	.	-10.8958	17.7923	0.88558	0.0:1.0:0.0:0.0	.	257	Q8NBL3	TM178_HUMAN	F	257	ENSP00000281961:S257F	.	S	+	2	0	TMEM178	39797771	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.073000	0.76784	2.793000	0.96121	0.655000	0.94253	TCC		PASS	0.488	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250445.2	NM_152390		62	62	62	62	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40656327	40656327	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr2:40656327C>A	ENST00000403092.1	-	2	1127	c.1094G>T	c.(1093-1095)cGc>cTc	p.R365L	SLC8A1_ENST00000405269.1_Missense_Mutation_p.R365L|SLC8A1_ENST00000406785.2_Missense_Mutation_p.R365L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R365L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R365L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R365L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R365L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R365L|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R365L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R365L			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	365					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.R365L(1)|p.R365H(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGCTTGAATGCGATAAAATGC	0.428																																						uc002rrx.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1093-1095)CGC>CTC		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						163.0	155.0	158.0					2																	40656327		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656327C>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1094G>T	2.37:g.40656327C>A	ENSP00000384763:p.Arg365Leu					SLC8A1_uc002rry.2_Missense_Mutation_p.R365L|SLC8A1_uc002rrz.2_Missense_Mutation_p.R365L|SLC8A1_uc002rsa.2_Missense_Mutation_p.R365L|SLC8A1_uc002rsd.3_Missense_Mutation_p.R365L|SLC8A1_uc002rsb.1_Missense_Mutation_p.R365L|SLC8A1_uc010fan.1_Missense_Mutation_p.R365L|SLC8A1_uc002rsc.1_Missense_Mutation_p.R365L	p.R365L	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	1118	-			365			Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1094G>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657674	0.67586	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.54071	0.64;0.67;0.65;0.67;0.64;0.64;0.65;0.59;0.64;0.63	6.17	5.3	0.74995	Heat shock protein DnaJ, N-terminal (1);	0.049164	0.85682	D	0.000000	T	0.77538	0.4145	M	0.91663	3.23	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.995;1.0;0.997;1.0	T	0.82878	-0.0239	10	0.87932	D	0	.	13.3312	0.60488	0.0:0.9246:0.0:0.0754	.	365;365;365;365;365	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	L	365	ENSP00000383886:R365L;ENSP00000440727:R365L;ENSP00000384763:R365L;ENSP00000385678:R365L;ENSP00000385188:R365L;ENSP00000385535:R365L;ENSP00000332931:R365L;ENSP00000384908:R365L;ENSP00000385811:R365L;ENSP00000443515:R365L	ENSP00000332931:R365L	R	-	2	0	SLC8A1	40509831	1.000000	0.71417	0.913000	0.36048	0.990000	0.78478	7.663000	0.83820	1.635000	0.50512	0.655000	0.94253	CGC		PASS	0.428	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		23	133	23	133	---	---	---	---
SPRED2	200734	broad.mit.edu	37	2	65541258	65541258	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr2:65541258C>G	ENST00000356388.4	-	6	823	c.634G>C	c.(634-636)Gag>Cag	p.E212Q	SPRED2_ENST00000474228.1_5'Flank|SPRED2_ENST00000443619.2_Missense_Mutation_p.E209Q	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	212	KBD. {ECO:0000255|PROSITE- ProRule:PRU00821}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.E212Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						ACGATCTCCTCGTCGTCGTCC	0.597																																						uc002sdr.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(634-636)GAG>CAG		sprouty-related protein with EVH-1 domain 2							44.0	42.0	43.0					2																	65541258		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65541258C>G	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.634G>C	2.37:g.65541258C>G	ENSP00000348753:p.Glu212Gln					SPRED2_uc010fcw.2_Missense_Mutation_p.E209Q	p.E212Q	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN			6	1169	-			212			KBD.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.634G>C	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	c	33	5.276402	0.95459	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.80214	-1.35;-1.34;-1.35;-0.29	5.31	5.31	0.75309	c-Kit-binding domain (1);	0.096192	0.64402	D	0.000001	D	0.86360	0.5914	L	0.57536	1.79	0.80722	D	1	P;D	0.59357	0.502;0.985	B;P	0.57425	0.216;0.82	D	0.87123	0.2192	10	0.59425	D	0.04	-27.4018	18.9738	0.92725	0.0:1.0:0.0:0.0	.	209;212	E9PEP0;Q7Z698	.;SPRE2_HUMAN	Q	212;209;227;94	ENSP00000348753:E212Q;ENSP00000393697:E209Q;ENSP00000390595:E227Q;ENSP00000407627:E94Q	ENSP00000348753:E212Q	E	-	1	0	SPRED2	65394762	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.747000	0.85070	2.491000	0.84063	0.586000	0.80456	GAG		PASS	0.597	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			16	26	16	26	---	---	---	---
TGOLN2	10618	broad.mit.edu	37	2	85553695	85553695	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr2:85553695G>A	ENST00000409232.3	-	2	1221	c.1160C>T	c.(1159-1161)gCa>gTa	p.A387V	TGOLN2_ENST00000409015.1_Missense_Mutation_p.A387V|TGOLN2_ENST00000377386.3_Missense_Mutation_p.A387V|TGOLN2_ENST00000282120.2_Missense_Mutation_p.A231V|TGOLN2_ENST00000398263.2_Missense_Mutation_p.A329V|TGOLN2_ENST00000444342.2_Missense_Mutation_p.A387V			O43493	TGON2_HUMAN	trans-golgi network protein 2	387						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)		p.A387V(1)									CACCAGATATGCAAAGAAGTG	0.547																																						uc010fgd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1159-1161)GCA>GTA		trans-golgi network protein 2							78.0	79.0	79.0					2																	85553695		1935	4142	6077	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85553695G>A	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.1160C>T	2.37:g.85553695G>A	ENSP00000386443:p.Ala387Val					TGOLN2_uc002soz.2_Missense_Mutation_p.A387V|TGOLN2_uc002spa.2_RNA|TGOLN2_uc002spb.2_Missense_Mutation_p.A329V|TGOLN2_uc002spc.1_Missense_Mutation_p.A387V	p.A387V	NM_006464	NP_006455	O43493	TGON2_HUMAN			2	1449	-			387			Helical; (Potential).		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.1160C>T	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519189	0.96416	.	.	ENSG00000152291	ENST00000377386;ENST00000282120;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T;T	0.15718	2.52;2.54;2.4;2.54;2.51;2.51	4.68	4.68	0.58851	.	.	.	.	.	T	0.37892	0.1020	L	0.59436	1.845	0.41835	D	0.990097	D;D;D;D	0.76494	0.976;0.989;0.99;0.999	P;D;D;D	0.77004	0.908;0.95;0.935;0.989	T	0.13415	-1.0510	9	0.62326	D	0.03	-22.5733	15.1379	0.72583	0.0:0.0:1.0:0.0	.	387;387;329;387	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	V	387;231;329;387;387;387	ENSP00000366603:A387V;ENSP00000282120:A231V;ENSP00000381312:A329V;ENSP00000386443:A387V;ENSP00000387035:A387V;ENSP00000391190:A387V	ENSP00000282120:A231V	A	-	2	0	TGOLN2	85407206	1.000000	0.71417	0.947000	0.38551	0.983000	0.72400	6.759000	0.74934	2.430000	0.82344	0.655000	0.94253	GCA		PASS	0.547	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		58	46	58	46	---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159481743	159481743	+	Silent	SNP	G	G	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr2:159481743G>C	ENST00000389759.3	+	7	1069	c.957G>C	c.(955-957)acG>acC	p.T319T	PKP4_ENST00000389757.3_Silent_p.T319T	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	319					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.T319T(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TGACCCTGACGGATGCACAGA	0.627										HNSCC(62;0.18)																												uc002tzv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)	7						c.(955-957)ACG>ACC		plakophilin 4 isoform a							56.0	53.0	54.0					2																	159481743		2203	4300	6503	SO:0001819	synonymous_variant	8502				cell adhesion	desmosome	protein binding	g.chr2:159481743G>C	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.957G>C	2.37:g.159481743G>C		HNSCC(62;0.18)				PKP4_uc002tzt.1_Silent_p.T171T|PKP4_uc002tzu.2_Silent_p.T319T|PKP4_uc002tzw.2_Silent_p.T319T|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Silent_p.T317T|PKP4_uc002uaa.2_Silent_p.T171T	p.T319T	NM_003628	NP_003619	Q99569	PKP4_HUMAN			7	1217	+			319					Q86W91	Silent	SNP	ENST00000389759.3	37	c.957G>C	CCDS33305.1																																																																																				PASS	0.627	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			15	39	15	39	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179446758	179446758	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr2:179446758C>G	ENST00000591111.1	-	265	61639	c.61415G>C	c.(61414-61416)aGa>aCa	p.R20472T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R22113T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13048T|TTN_ENST00000342992.6_Missense_Mutation_p.R19545T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13240T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13173T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20472	Fibronectin type-III 48. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R13173T(1)|p.R13048T(1)|p.R19545T(1)|p.R19543T(1)|p.R13240T(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)			TTTTAATGTTCTTTCTATAAT	0.448																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(58633-58635)AGA>ACA		titin isoform N2-A							175.0	169.0	170.0					2																	179446758		1863	4101	5964	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179446758C>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.61415G>C	2.37:g.179446758C>G	ENSP00000465570:p.Arg20472Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R13240T|TTN_uc010zfi.1_Missense_Mutation_p.R13173T|TTN_uc010zfj.1_Missense_Mutation_p.R13048T	p.R19545T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		264	58858	-			20472					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.58634G>C		.	.	.	.	.	.	.	.	.	.	C	16.35	3.098330	0.56183	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.68	5.68	0.88126	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54743	0.1877	N	0.11892	0.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.63287	-0.6671	9	0.87932	D	0	.	19.7959	0.96481	0.0:1.0:0.0:0.0	.	13048;13173;13240;20472	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	19545;13048;13240;13173;13046	ENSP00000343764:R19545T;ENSP00000434586:R13048T;ENSP00000340554:R13240T;ENSP00000352154:R13173T	ENSP00000340554:R13240T	R	-	2	0	TTN	179155004	1.000000	0.71417	0.991000	0.47740	0.971000	0.66376	7.818000	0.86416	2.689000	0.91719	0.655000	0.94253	AGA		PASS	0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	108	43	108	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179569457	179569457	+	Silent	SNP	A	A	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr2:179569457A>G	ENST00000591111.1	-	103	29015	c.28791T>C	c.(28789-28791)gaT>gaC	p.D9597D	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.D9914D|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.D8670D|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	13679					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.D8670D(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)			CAGCATCATTATCTTTCAAAA	0.318																																						uc010zfg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(26008-26010)GAT>GAC		titin isoform N2-A							42.0	38.0	39.0					2																	179569457		1807	4067	5874	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569457A>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.28791T>C	2.37:g.179569457A>G						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.D5331D	p.D8670D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		102	26234	-			9597					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.26010T>C																																																																																					PASS	0.318	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	21	14	21	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179718286	179718286	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr2:179718286G>T	ENST00000420890.2	-	20	3243	c.3126C>A	c.(3124-3126)tgC>tgA	p.C1042*	CCDC141_ENST00000295723.5_Nonsense_Mutation_p.C467*	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1042								p.C1042*(1)|p.C467*(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCTTTGTCTTGCACTCTGTGG	0.413																																						uc002unf.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(7)|pancreas(2)|skin(1)	10						c.(1399-1401)TGC>TGA		coiled-coil domain containing 141							123.0	123.0	123.0					2																	179718286		2203	4300	6503	SO:0001587	stop_gained	285025						protein binding	g.chr2:179718286G>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3126C>A	2.37:g.179718286G>T	ENSP00000395995:p.Cys1042*						p.C467*	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		10	1458	-			467					H7C0P1|J3KNW6|Q8N8H3	Nonsense_Mutation	SNP	ENST00000420890.2	37	c.1401C>A		.	.	.	.	.	.	.	.	.	.	G	41	9.083695	0.99061	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	.	.	.	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.793	20.1731	0.98165	0.0:0.0:1.0:0.0	.	.	.	.	X	1042;486;467	.	ENSP00000295723:C467X	C	-	3	2	CCDC141	179426531	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.333000	0.33816	2.768000	0.95171	0.655000	0.94253	TGC		PASS	0.413	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		17	48	17	48	---	---	---	---
ZSWIM2	151112	broad.mit.edu	37	2	187693346	187693346	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr2:187693346C>A	ENST00000295131.2	-	9	1306	c.1267G>T	c.(1267-1269)Gat>Tat	p.D423Y		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	423					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D423Y(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATAAAAAGATCTGGTTCTTTC	0.338																																						uc002upu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1267-1269)GAT>TAT		zinc finger, SWIM domain containing 2							74.0	76.0	75.0					2																	187693346		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187693346C>A	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1267G>T	2.37:g.187693346C>A	ENSP00000295131:p.Asp423Tyr						p.D423Y	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		9	1307	-			423					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.1267G>T	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	C	9.556	1.117278	0.20795	.	.	ENSG00000163012	ENST00000295131	T	0.24538	1.85	5.3	2.19	0.27852	.	0.521509	0.17975	N	0.155733	T	0.09905	0.0243	N	0.08118	0	0.23391	N	0.997777	P	0.36438	0.553	B	0.28232	0.087	T	0.17776	-1.0358	10	0.87932	D	0	-1.3808	4.7294	0.12957	0.0:0.5989:0.1736:0.2274	.	423	Q8NEG5	ZSWM2_HUMAN	Y	423	ENSP00000295131:D423Y	ENSP00000295131:D423Y	D	-	1	0	ZSWIM2	187401591	0.994000	0.37717	0.709000	0.30452	0.537000	0.34900	0.387000	0.20718	0.199000	0.20427	-0.282000	0.10007	GAT		PASS	0.338	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		25	32	25	32	---	---	---	---
SF3B1	23451	broad.mit.edu	37	2	198262836	198262836	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr2:198262836C>A	ENST00000335508.6	-	22	3230	c.3139G>T	c.(3139-3141)Gct>Tct	p.A1047S		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1047					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.A1047S(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ACATATTCAGCTCCCCTAATT	0.323			Mis		myelodysplastic syndrome																																	uc002uue.2				Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					1	Substitution - Missense(1)		lung(1)	pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(3139-3141)GCT>TCT		splicing factor 3b, subunit 1 isoform 1							88.0	94.0	92.0					2																	198262836		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198262836C>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.3139G>T	2.37:g.198262836C>A	ENSP00000335321:p.Ala1047Ser						p.A1047S	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		22	3187	-			1047			HEAT 8.		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.3139G>T	CCDS33356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.49|15.49	2.849589|2.849589	0.51270|0.51270	.|.	.|.	ENSG00000115524|ENSG00000115524	ENST00000335508|ENST00000424674	T|.	0.64438|.	-0.1|.	5.45|5.45	5.45|5.45	0.79879|0.79879	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60470|0.60470	0.2271|0.2271	L|L	0.33093|0.33093	0.98|0.98	0.80722|0.80722	D|D	1|1	B|.	0.23316|.	0.083|.	B|.	0.24974|.	0.057|.	T|T	0.52704|0.52704	-0.8540|-0.8540	10|5	0.26408|.	T|.	0.33|.	.|.	19.4782|19.4782	0.94998|0.94998	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1047|.	O75533|.	SF3B1_HUMAN|.	S|D	1047|62	ENSP00000335321:A1047S|.	ENSP00000335321:A1047S|.	A|E	-|-	1|3	0|2	SF3B1|SF3B1	197971081|197971081	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.593000|7.593000	0.82686|0.82686	2.838000|2.838000	0.97847|0.97847	0.655000|0.655000	0.94253|0.94253	GCT|GAG		PASS	0.323	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			27	71	27	71	---	---	---	---
HSPD1	3329	broad.mit.edu	37	2	198361921	198361921	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr2:198361921C>G	ENST00000388968.3	-	3	637	c.370G>C	c.(370-372)Gcc>Ccc	p.A124P	HSPD1_ENST00000544407.1_Missense_Mutation_p.A124P|HSPE1_ENST00000233893.5_5'Flank|HSPD1_ENST00000345042.2_Missense_Mutation_p.A124P|HSPE1_ENST00000409729.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	124					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)	p.A124P(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CCTTCCTTGGCTATAGAGCGT	0.443																																						uc002uui.2																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)GCC>CCC		chaperonin							125.0	117.0	120.0					2																	198361921		2203	4300	6503	SO:0001583	missense	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198361921C>G	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.370G>C	2.37:g.198361921C>G	ENSP00000373620:p.Ala124Pro					HSPD1_uc002uuj.2_Missense_Mutation_p.A124P|HSPD1_uc010zgx.1_Missense_Mutation_p.A124P|HSPD1_uc010fsm.2_Intron|HSPD1_uc002uuk.2_Missense_Mutation_p.A124P|HSPD1_uc010zgy.1_Missense_Mutation_p.A124P|HSPE1_uc002uul.2_5'Flank	p.A124P	NM_002156	NP_002147	P10809	CH60_HUMAN	Epithelial(96;0.225)		3	507	-			124					B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	ENST00000388968.3	37	c.370G>C	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961878	0.92791	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000430176;ENST00000452200;ENST00000544407;ENST00000426480	T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	4.28	4.28	0.50868	.	0.102116	0.64402	D	0.000003	D	0.92071	0.7487	M	0.94063	3.49	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.982;0.993;0.993;0.982	D	0.93953	0.7233	10	0.59425	D	0.04	-8.0854	17.2656	0.87086	0.0:1.0:0.0:0.0	.	124;124;124;124	B7Z712;B7Z597;B3GQS7;P10809	.;.;.;CH60_HUMAN	P	124;124;124;124;124;166	ENSP00000373620:A124P;ENSP00000340019:A124P;ENSP00000393670:A124P;ENSP00000412717:A124P;ENSP00000441296:A124P;ENSP00000414446:A166P	ENSP00000340019:A124P	A	-	1	0	HSPD1	198070166	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.583000	0.82559	2.364000	0.80123	0.650000	0.86243	GCC		PASS	0.443	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		24	49	24	49	---	---	---	---
PARD3B	117583	broad.mit.edu	37	2	206023531	206023531	+	Missense_Mutation	SNP	C	C	T	rs149158367		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr2:206023531C>T	ENST00000406610.2	+	11	1727	c.1520C>T	c.(1519-1521)gCt>gTt	p.A507V	PARD3B_ENST00000349953.3_Missense_Mutation_p.A507V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A507V|PARD3B_ENST00000351153.1_Missense_Mutation_p.A507V|PARD3B_ENST00000358768.2_Intron	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	507	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.A507V(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCAGGTTCTGCTGGCCTCGGG	0.483																																						uc002var.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(1519-1521)GCT>GTT		par-3 partitioning defective 3 homolog B isoform							102.0	98.0	99.0					2																	206023531		1870	4109	5979	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206023531C>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1520C>T	2.37:g.206023531C>T	ENSP00000385848:p.Ala507Val					PARD3B_uc010fub.1_Missense_Mutation_p.A507V|PARD3B_uc002vao.1_Missense_Mutation_p.A507V|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Missense_Mutation_p.A507V	p.A507V	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	11	1727	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	507			PDZ 3.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.1520C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.468259	0.96274	.	.	ENSG00000116117	ENST00000406610;ENST00000351153;ENST00000349953	T;T;T	0.27720	1.65;1.65;1.65	5.86	5.86	0.93980	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.56688	0.2002	M	0.64260	1.97	0.80722	D	1	D;D;D;D	0.89917	0.994;0.999;0.997;1.0	D;D;D;D	0.97110	0.985;0.995;1.0;0.998	T	0.55186	-0.8180	9	0.72032	D	0.01	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	507;507;507;507	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-5	.;PAR3L_HUMAN;.;.	V	507	ENSP00000385848:A507V;ENSP00000317261:A507V;ENSP00000340280:A507V	ENSP00000340280:A507V	A	+	2	0	PARD3B	205731776	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.777000	0.95525	0.655000	0.94253	GCT		PASS	0.483	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		34	65	34	65	---	---	---	---
DNER	92737	broad.mit.edu	37	2	230272008	230272008	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr2:230272008C>G	ENST00000341772.4	-	10	1797	c.1663G>C	c.(1663-1665)Gga>Cga	p.G555R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	555	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Follistatin-like.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.G555*(1)|p.G555R(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAGGTGGCTCCGTTCAGACAG	0.512																																						uc002vpv.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	lung(5)|ovary(2)|skin(1)	8						c.(1663-1665)GGA>CGA		delta-notch-like EGF repeat-containing							137.0	121.0	126.0					2																	230272008		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230272008C>G	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1663G>C	2.37:g.230272008C>G	ENSP00000345229:p.Gly555Arg						p.G555R	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	10	1810	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	555			Extracellular (Potential).|Follistatin-like.|EGF-like 9.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1663G>C	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444667	0.83993	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.86297	-2.1	5.6	5.6	0.85130	Follistatin-like, N-terminal (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.049136	0.85682	D	0.000000	D	0.93507	0.7928	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.93935	0.7218	10	0.87932	D	0	.	18.3815	0.90452	0.0:1.0:0.0:0.0	.	555	Q8NFT8	DNER_HUMAN	R	555;273	ENSP00000345229:G555R	ENSP00000345229:G555R	G	-	1	0	DNER	229980252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.681000	0.68175	2.642000	0.89623	0.563000	0.77884	GGA		PASS	0.512	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		13	70	13	70	---	---	---	---
ABHD6	57406	broad.mit.edu	37	3	58279428	58279428	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr3:58279428C>T	ENST00000478253.1	+	10	1451	c.950C>T	c.(949-951)gCc>gTc	p.A317V	ABHD6_ENST00000295962.4_Missense_Mutation_p.A317V			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	317					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)	p.A317V(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		AGGAAGACAGCCAAGCTCATA	0.517																																						uc003djs.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(949-951)GCC>GTC		abhydrolase domain containing 6							107.0	94.0	99.0					3																	58279428		2203	4300	6503	SO:0001583	missense	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58279428C>T	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.950C>T	3.37:g.58279428C>T	ENSP00000420315:p.Ala317Val					ABHD6_uc003djr.2_Missense_Mutation_p.A318V|ABHD6_uc003djt.3_Missense_Mutation_p.A317V	p.A317V	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	9	1360	+			317			Cytoplasmic (Potential).		B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	c.950C>T	CCDS2887.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.121813|5.121813	0.94429|0.94429	.|.	.|.	ENSG00000163686|ENSG00000163686	ENST00000478253;ENST00000295962|ENST00000511761	T;T|.	0.72167|.	-0.63;-0.63|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73249|0.73249	0.3563|0.3563	L|L	0.53617|0.53617	1.68|1.68	0.80722|0.80722	D|D	1|1	D|.	0.57899|.	0.981|.	P|.	0.56514|.	0.8|.	T|T	0.73623|0.73623	-0.3924|-0.3924	10|6	0.15952|0.66056	T|D	0.53|0.02	-26.3728|-26.3728	18.7332|18.7332	0.91744|0.91744	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	317|.	Q9BV23|.	ABHD6_HUMAN|.	V|S	317|316	ENSP00000420315:A317V;ENSP00000295962:A317V|.	ENSP00000295962:A317V|ENSP00000442448:P316S	A|P	+|+	2|1	0|0	ABHD6|ABHD6	58254468|58254468	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	7.284000|7.284000	0.78650|0.78650	2.760000|2.760000	0.94817|0.94817	0.655000|0.655000	0.94253|0.94253	GCC|CCA		PASS	0.517	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		16	8	16	8	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96533582	96533582	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr3:96533582G>A	ENST00000389672.5	+	1	153	c.115G>A	c.(115-117)Ggg>Agg	p.G39R	EPHA6_ENST00000470610.2_Missense_Mutation_p.G39R|EPHA6_ENST00000542517.1_5'Flank	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.G39R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCCTGTTCCCGGGACCTCGCG	0.721																																						uc010how.1																			1	Substitution - Missense(1)		lung(1)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(115-117)GGG>AGG		EPH receptor A6 isoform a							10.0	13.0	12.0					3																	96533582		1926	4118	6044	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96533582G>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.115G>A	3.37:g.96533582G>A	ENSP00000374323:p.Gly39Arg					EPHA6_uc003drp.1_Missense_Mutation_p.G39R	p.G39R	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			1	158	+			Error:Variant_position_missing_in_Q9UF33_after_alignment					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.115G>A	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954129	0.53293	.	.	ENSG00000080224	ENST00000470610;ENST00000389672	T;T	0.79454	4.6;-1.27	4.95	3.0	0.34707	.	.	.	.	.	T	0.59528	0.2200	N	0.08118	0	0.80722	D	1	P;B	0.49559	0.925;0.003	B;B	0.42798	0.398;0.001	T	0.61652	-0.7019	9	0.45353	T	0.12	.	11.0514	0.47893	0.0:0.3622:0.6378:0.0	.	39;39	B3KS12;E7EU71	.;.	R	39	ENSP00000420598:G39R;ENSP00000374323:G39R	ENSP00000374323:G39R	G	+	1	0	EPHA6	98016272	0.994000	0.37717	1.000000	0.80357	0.968000	0.65278	0.617000	0.24359	1.032000	0.39892	0.585000	0.79938	GGG		PASS	0.721	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		5	15	5	15	---	---	---	---
GPR128	84873	broad.mit.edu	37	3	100373989	100373989	+	Missense_Mutation	SNP	C	C	T	rs373804273		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr3:100373989C>T	ENST00000273352.3	+	12	1958	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W	GPR128_ENST00000475887.1_Missense_Mutation_p.R269W|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	564					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.R564W(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						GCCTCTTCCTCGGCATTTCAT	0.398																																					Pancreas(87;185 1975 7223 18722)	uc003duc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1690-1692)CGG>TGG		G protein-coupled receptor 128 precursor							101.0	97.0	98.0					3																	100373989		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100373989C>T	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.1690C>T	3.37:g.100373989C>T	ENSP00000273352:p.Arg564Trp					GPR128_uc011bhc.1_Missense_Mutation_p.R265W|GPR128_uc003dud.2_Missense_Mutation_p.R87W	p.R564W	NM_032787	NP_116176	Q96K78	GP128_HUMAN			12	1958	+			564			Cytoplasmic (Potential).		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1690C>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014624	0.54468	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.39229	1.09;1.09	5.81	3.03	0.35002	GPCR, family 2-like (1);	1.707210	0.02978	N	0.145287	T	0.61110	0.2321	M	0.85373	2.75	0.09310	N	1	P;D	0.71674	0.661;0.998	B;P	0.56612	0.227;0.802	T	0.18335	-1.0340	10	0.72032	D	0.01	.	2.3777	0.04346	0.1571:0.5282:0.1517:0.163	.	269;564	E9PHI0;Q96K78	.;GP128_HUMAN	W	564;269	ENSP00000273352:R564W;ENSP00000419788:R269W	ENSP00000273352:R564W	R	+	1	2	GPR128	101856679	0.685000	0.27652	0.159000	0.22649	0.801000	0.45260	1.230000	0.32612	0.773000	0.33404	0.655000	0.94253	CGG		PASS	0.398	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			18	84	18	84	---	---	---	---
KIAA1524	57650	broad.mit.edu	37	3	108300348	108300348	+	Missense_Mutation	SNP	C	C	G	rs138065901	byFrequency	TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr3:108300348C>G	ENST00000295746.8	-	5	539	c.463G>C	c.(463-465)Gaa>Caa	p.E155Q	KIAA1524_ENST00000491772.1_5'UTR|KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	155					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E155Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AACTCATCTTCAGAAGATTGA	0.284																																						uc003dxb.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(463-465)GAA>CAA		p90 autoantigen							119.0	119.0	119.0					3																	108300348		2203	4299	6502	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108300348C>G	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.463G>C	3.37:g.108300348C>G	ENSP00000295746:p.Glu155Gln					KIAA1524_uc003dxc.1_5'UTR|KIAA1524_uc010hpw.1_5'UTR	p.E155Q	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			5	732	-			155					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.463G>C	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464495	0.84425	.	.	ENSG00000163507	ENST00000295746	T	0.35973	1.28	5.62	5.62	0.85841	Armadillo-type fold (1);	0.203252	0.52532	D	0.000061	T	0.58018	0.2093	M	0.62723	1.935	0.44603	D	0.997571	D	0.69078	0.997	D	0.62955	0.909	T	0.57106	-0.7868	10	0.62326	D	0.03	-19.645	20.0377	0.97569	0.0:1.0:0.0:0.0	.	155	Q8TCG1	CIP2A_HUMAN	Q	155	ENSP00000295746:E155Q	ENSP00000295746:E155Q	E	-	1	0	KIAA1524	109783038	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.051000	0.64257	2.822000	0.97130	0.650000	0.86243	GAA		PASS	0.284	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		5	34	5	34	---	---	---	---
CCDC80	151887	broad.mit.edu	37	3	112357186	112357186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr3:112357186C>A	ENST00000206423.3	-	2	2520	c.1567G>T	c.(1567-1569)Gag>Tag	p.E523*	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Nonsense_Mutation_p.E523*	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	523	Lys-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.E523*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ACCTGCAGCTCGTCCTCCAGC	0.448																																						uc003dzf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1567-1569)GAG>TAG		steroid-sensitive protein 1 precursor							60.0	61.0	61.0					3																	112357186		2203	4300	6503	SO:0001587	stop_gained	151887							g.chr3:112357186C>A	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1567G>T	3.37:g.112357186C>A	ENSP00000206423:p.Glu523*					CCDC80_uc011bhv.1_Nonsense_Mutation_p.E523*|CCDC80_uc003dzg.2_Nonsense_Mutation_p.E523*|CCDC80_uc003dzh.1_Nonsense_Mutation_p.E523*	p.E523*	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			2	1785	-			523			Lys-rich.		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Nonsense_Mutation	SNP	ENST00000206423.3	37	c.1567G>T	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	48	14.301043	0.99789	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	.	.	.	5.46	5.46	0.80206	.	0.218238	0.47455	D	0.000223	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-35.6478	10.1358	0.42706	0.0:0.7899:0.1376:0.0725	.	.	.	.	X	523;523;151	.	ENSP00000206423:E523X	E	-	1	0	CCDC80	113839876	0.994000	0.37717	1.000000	0.80357	0.957000	0.61999	2.468000	0.45102	2.741000	0.93983	0.555000	0.69702	GAG		PASS	0.448	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		25	57	25	57	---	---	---	---
SLC12A8	84561	broad.mit.edu	37	3	124807181	124807181	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr3:124807181A>T	ENST00000393469.4	-	12	2004	c.1955T>A	c.(1954-1956)aTg>aAg	p.M652K	SLC12A8_ENST00000469902.1_Missense_Mutation_p.M652K|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000423114.2_Missense_Mutation_p.M681K|SLC12A8_ENST00000430155.2_Missense_Mutation_p.M453K|SLC12A8_ENST00000465475.1_Intron	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	652					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.M690K(1)|p.M652K(1)		endometrium(2)|kidney(2)|lung(12)	16						GAGAGACCTCATCCACCGGAA	0.498																																						uc003ehv.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1954-1956)ATG>AAG		solute carrier family 12, member 8							84.0	90.0	88.0					3																	124807181		1972	4149	6121	SO:0001583	missense	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124807181A>T		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.1955T>A	3.37:g.124807181A>T	ENSP00000377112:p.Met652Lys					SLC12A8_uc003ehw.3_Missense_Mutation_p.M681K|SLC12A8_uc003eht.3_Missense_Mutation_p.M453K|SLC12A8_uc003ehu.3_Missense_Mutation_p.M405K|SLC12A8_uc010hry.2_Intron	p.M652K	NM_024628	NP_078904	A0AV02	S12A8_HUMAN			13	2066	-			652					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	c.1955T>A	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905920	0.72868	.	.	ENSG00000221955	ENST00000430155;ENST00000393469;ENST00000423114;ENST00000469902	D;D;D;D	0.88509	-1.9;-2.38;-2.39;-2.38	4.99	4.99	0.66335	.	.	.	.	.	D	0.86632	0.5979	L	0.51422	1.61	0.80722	D	1	B;P;P	0.47106	0.439;0.453;0.89	B;B;B	0.44224	0.18;0.127;0.444	D	0.87778	0.2610	9	0.87932	D	0	.	11.0046	0.47626	1.0:0.0:0.0:0.0	.	681;652;453	A0AV02-2;A0AV02;A0AV02-3	.;S12A8_HUMAN;.	K	453;652;681;652	ENSP00000415713:M453K;ENSP00000377112:M652K;ENSP00000404243:M681K;ENSP00000418783:M652K	ENSP00000377112:M652K	M	-	2	0	SLC12A8	126289871	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.641000	0.67881	2.090000	0.63153	0.460000	0.39030	ATG		PASS	0.498	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		16	32	16	32	---	---	---	---
PODXL2	50512	broad.mit.edu	37	3	127379397	127379397	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr3:127379397G>C	ENST00000342480.6	+	3	565	c.526G>C	c.(526-528)Gaa>Caa	p.E176Q		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	176	Glu-rich.				leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)	p.E176Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						gagggagaaggaagaggtaga	0.547																																						uc003ejq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(526-528)GAA>CAA		podocalyxin-like 2 precursor							66.0	73.0	71.0					3																	127379397		2203	4300	6503	SO:0001583	missense	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127379397G>C	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.526G>C	3.37:g.127379397G>C	ENSP00000345359:p.Glu176Gln						p.E176Q	NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN			3	550	+			176			Extracellular (Potential).|Glu-rich.		Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	c.526G>C	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413317	0.25465	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.12255	2.7	3.63	3.63	0.41609	.	1.103240	0.07195	U	0.856328	T	0.12263	0.0298	N	0.24115	0.695	0.24490	N	0.994301	P	0.47910	0.902	B	0.42163	0.378	T	0.21008	-1.0258	10	0.51188	T	0.08	3.0E-4	10.9794	0.47486	0.0:0.0:1.0:0.0	.	176	Q9NZ53	PDXL2_HUMAN	Q	176	ENSP00000345359:E176Q	ENSP00000304498:E176Q	E	+	1	0	PODXL2	128862087	0.094000	0.21725	0.859000	0.33776	0.834000	0.47266	2.796000	0.47869	2.030000	0.59900	0.491000	0.48974	GAA		PASS	0.547	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		10	33	10	33	---	---	---	---
NME9	347736	broad.mit.edu	37	3	138025270	138025270	+	Silent	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr3:138025270G>T	ENST00000333911.3	-	7	540	c.513C>A	c.(511-513)gcC>gcA	p.A171A	NME9_ENST00000341790.5_Silent_p.A108A|NME9_ENST00000484930.1_Silent_p.A108A|NME9_ENST00000317876.4_Silent_p.A110A|NME9_ENST00000383180.2_Silent_p.A110A|NME9_ENST00000536478.1_Silent_p.A110A			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	171	NDK.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.A110A(1)									TCTTTCCATGGGCCACTGCAT	0.463																																						uc003esg.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(511-513)GCC>GCA		thioredoxin domain containing 6							185.0	155.0	165.0					3																	138025270		2203	4300	6503	SO:0001819	synonymous_variant	347736				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr3:138025270G>T	AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.513C>A	3.37:g.138025270G>T						TXNDC6_uc003esd.1_RNA|TXNDC6_uc010huf.1_Silent_p.A86A|TXNDC6_uc003ese.1_Silent_p.A110A	p.A171A	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN			7	541	-			171			NDK.		Q7Z4A8|Q8N1V7	Silent	SNP	ENST00000333911.3	37	c.513C>A		.	.	.	.	.	.	.	.	.	.	G	8.155	0.788200	0.16258	.	.	ENSG00000181322	ENST00000474690	.	.	.	4.95	-3.36	0.04913	.	.	.	.	.	T	0.38026	0.1025	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35549	-0.9784	4	.	.	.	-5.848	1.1382	0.01759	0.1772:0.3201:0.2183:0.2844	.	.	.	.	T	102	.	.	P	-	1	0	TXNDC6	139507960	0.927000	0.31430	0.248000	0.24265	0.817000	0.46193	-0.200000	0.09478	-0.408000	0.07565	0.591000	0.81541	CCA		PASS	0.463	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	NM_178130		20	41	20	41	---	---	---	---
NMD3	51068	broad.mit.edu	37	3	160952598	160952598	+	Silent	SNP	A	A	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr3:160952598A>G	ENST00000460469.1	+	5	896	c.441A>G	c.(439-441)gtA>gtG	p.V147V	NMD3_ENST00000472947.1_Silent_p.V147V|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000351193.2_Silent_p.V147V			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	147					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)	p.V147V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GCCATAGAGTAGAAGCTAAGG	0.383																																						uc003feb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(439-441)GTA>GTG		NMD3 homolog							198.0	190.0	193.0					3																	160952598		2203	4300	6503	SO:0001819	synonymous_variant	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160952598A>G	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.441A>G	3.37:g.160952598A>G						NMD3_uc003fec.2_Silent_p.V147V|NMD3_uc003fed.1_Silent_p.V147V|NMD3_uc010hwh.2_5'Flank	p.V147V	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		6	560	+			147					D3DNM7|Q9Y2Z6	Silent	SNP	ENST00000460469.1	37	c.441A>G	CCDS3194.1																																																																																				PASS	0.383	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		18	67	18	67	---	---	---	---
BCHE	590	broad.mit.edu	37	3	165547449	165547449	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr3:165547449C>A	ENST00000264381.3	-	2	1539	c.1373G>T	c.(1372-1374)tGg>tTg	p.W458L	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	458					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.W458L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CCATTCTGGCCACGGAAGTTT	0.403																																						uc003fem.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1372-1374)TGG>TTG		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						97.0	101.0	100.0					3																	165547449		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547449C>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1373G>T	3.37:g.165547449C>A	ENSP00000264381:p.Trp458Leu					BCHE_uc003fen.3_Intron	p.W458L	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	1533	-			458					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1373G>T	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946608	0.73672	.	.	ENSG00000114200	ENST00000264381	T	0.67698	-0.28	5.52	5.52	0.82312	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.78046	0.4222	L	0.56124	1.755	0.80722	D	1	D	0.61697	0.99	P	0.62649	0.905	T	0.79657	-0.1712	10	0.87932	D	0	.	18.4281	0.90615	0.0:1.0:0.0:0.0	.	458	P06276	CHLE_HUMAN	L	458	ENSP00000264381:W458L	ENSP00000264381:W458L	W	-	2	0	BCHE	167030143	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.609000	0.67661	2.605000	0.88082	0.591000	0.81541	TGG		PASS	0.403	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			16	88	16	88	---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170797378	170797378	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr3:170797378T>G	ENST00000436636.2	-	28	3721	c.3377A>C	c.(3376-3378)gAc>gCc	p.D1126A	TNIK_ENST00000475336.1_Missense_Mutation_p.D1034A|TNIK_ENST00000460047.1_Missense_Mutation_p.D1063A|TNIK_ENST00000470834.1_Missense_Mutation_p.D1089A|TNIK_ENST00000357327.5_Missense_Mutation_p.D1097A|TNIK_ENST00000488470.1_Missense_Mutation_p.D1071A|TNIK_ENST00000341852.6_Missense_Mutation_p.D1042A|TNIK_ENST00000538048.1_Missense_Mutation_p.D1078A|TNIK_ENST00000369326.5_Missense_Mutation_p.D1104A|TNIK_ENST00000284483.8_Missense_Mutation_p.D1118A	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1126	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.D1126A(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TACTTCTGGGTCATTATGTAG	0.338																																						uc003fhh.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(3376-3378)GAC>GCC		TRAF2 and NCK interacting kinase isoform 1							136.0	126.0	129.0					3																	170797378		1849	4097	5946	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170797378T>G	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3377A>C	3.37:g.170797378T>G	ENSP00000399511:p.Asp1126Ala					TNIK_uc003fhi.2_Missense_Mutation_p.D1071A|TNIK_uc003fhj.2_Missense_Mutation_p.D1097A|TNIK_uc003fhk.2_Missense_Mutation_p.D1118A|TNIK_uc003fhl.2_Missense_Mutation_p.D1042A|TNIK_uc003fhm.2_Missense_Mutation_p.D1063A|TNIK_uc003fhn.2_Missense_Mutation_p.D1089A|TNIK_uc003fho.2_Missense_Mutation_p.D1034A|TNIK_uc003fhg.2_Missense_Mutation_p.D304A|TNIK_uc003fhp.2_Missense_Mutation_p.D58A	p.D1126A	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		28	3722	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1126			CNH.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.3377A>C	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.313322	0.81358	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57;3.57;3.57;3.57;3.57;3.57	5.27	5.27	0.74061	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.24392	0.0591	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.996;0.999;0.996;0.996;1.0;0.999;0.996;1.0	D;D;D;D;D;D;D;D;D	0.85130	0.994;0.991;0.968;0.991;0.991;0.994;0.968;0.991;0.997	T	0.01464	-1.1348	10	0.87932	D	0	.	15.4862	0.75569	0.0:0.0:0.0:1.0	.	1078;1034;1089;1063;1042;1118;1097;1071;1126	F5H5M9;Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;.;TNIK_HUMAN	A	1126;1104;1078;1042;1118;1034;1097;1063;1071;1089	ENSP00000399511:D1126A;ENSP00000358332:D1104A;ENSP00000443278:D1078A;ENSP00000345352:D1042A;ENSP00000284483:D1118A;ENSP00000418156:D1034A;ENSP00000349880:D1097A;ENSP00000418916:D1063A;ENSP00000418378:D1071A;ENSP00000419990:D1089A	ENSP00000284483:D1118A	D	-	2	0	TNIK	172280072	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.993000	0.88291	2.104000	0.64026	0.533000	0.62120	GAC		PASS	0.338	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		8	31	8	31	---	---	---	---
ABCF3	55324	broad.mit.edu	37	3	183910653	183910653	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr3:183910653T>A	ENST00000429586.2	+	18	1904	c.1719T>A	c.(1717-1719)agT>agA	p.S573R	ABCF3_ENST00000292808.5_Missense_Mutation_p.S567R|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	573	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S573R(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TAAACGTCAGTGCTGTGGAAC	0.542																																						uc003fmz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(1717-1719)AGT>AGA		ATP-binding cassette, sub-family F (GCN20),							70.0	62.0	65.0					3																	183910653		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183910653T>A	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1719T>A	3.37:g.183910653T>A	ENSP00000411471:p.Ser573Arg					ABCF3_uc003fna.2_Missense_Mutation_p.S567R|ABCF3_uc003fnb.2_Missense_Mutation_p.S254R	p.S573R	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		18	1852	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		573			ABC transporter 2.		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.1719T>A	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999756	0.74818	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.92911	-3.13;-3.13	5.48	0.826	0.18829	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.089681	0.85682	D	0.000000	D	0.92485	0.7614	L	0.53671	1.685	0.47949	D	0.999554	P;D	0.53151	0.906;0.958	P;P	0.58210	0.691;0.835	D	0.90401	0.4402	10	0.87932	D	0	-12.3735	10.3563	0.43967	0.0:0.4898:0.0:0.5102	.	567;573	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	R	573;567	ENSP00000411471:S573R;ENSP00000292808:S567R	ENSP00000292808:S567R	S	+	3	2	ABCF3	185393347	0.117000	0.22190	0.997000	0.53966	0.912000	0.54170	-0.545000	0.06069	-0.133000	0.11537	0.460000	0.39030	AGT		PASS	0.542	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		18	44	18	44	---	---	---	---
C3orf70	285382	broad.mit.edu	37	3	184870445	184870445	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr3:184870445T>A	ENST00000335012.2	-	1	357	c.167A>T	c.(166-168)cAc>cTc	p.H56L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	56								p.H56L(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						ACAGCACCAGTGCAGCTTGAA	0.697																																						uc003fpd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(166-168)CAC>CTC		hypothetical protein LOC285382							34.0	29.0	30.0					3																	184870445		2201	4298	6499	SO:0001583	missense	285382							g.chr3:184870445T>A		CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.167A>T	3.37:g.184870445T>A	ENSP00000334974:p.His56Leu						p.H56L	NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN			1	358	-			56					B2RNY2|B9EH83	Missense_Mutation	SNP	ENST00000335012.2	37	c.167A>T	CCDS33900.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.571354	0.86542	.	.	ENSG00000187068	ENST00000335012	.	.	.	3.74	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	L	0.27053	0.805	0.58432	D	0.999993	D	0.69078	0.997	D	0.75484	0.986	T	0.66878	-0.5812	9	0.87932	D	0	.	12.279	0.54753	0.0:0.0:0.0:1.0	.	56	A6NLC5	CC070_HUMAN	L	56	.	ENSP00000334974:H56L	H	-	2	0	C3orf70	186353139	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.001000	0.76297	1.562000	0.49601	0.329000	0.21502	CAC		PASS	0.697	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1	NM_001025266		8	8	8	8	---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186971078	186971078	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr3:186971078C>T	ENST00000337774.5	-	6	1159	c.770G>A	c.(769-771)gGg>gAg	p.G257E	MASP1_ENST00000169293.6_Missense_Mutation_p.G257E|MASP1_ENST00000392472.2_Missense_Mutation_p.G144E|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.G231E|MASP1_ENST00000296280.6_Missense_Mutation_p.G257E	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	257	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Interaction with FCN2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.G257E(3)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ACAGAAAGGCCCCAAAACTTT	0.507																																						uc003frh.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)|breast(1)|liver(1)	4						c.(769-771)GGG>GAG		mannan-binding lectin serine protease 1 isoform							151.0	168.0	162.0					3																	186971078		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186971078C>T	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.770G>A	3.37:g.186971078C>T	ENSP00000336792:p.Gly257Glu					MASP1_uc003fri.2_Missense_Mutation_p.G257E|MASP1_uc003frj.2_Missense_Mutation_p.G226E|MASP1_uc003frk.1_Missense_Mutation_p.G257E|MASP1_uc011bse.1_Missense_Mutation_p.G231E	p.G257E	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	6	1102	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		257			Interaction with FCN2.|CUB 2.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.770G>A	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265780	0.95399	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	5.63	4.74	0.60224	CUB (5);	0.049793	0.85682	D	0.000000	T	0.59128	0.2171	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.981;1.0;0.999;0.989	T	0.69684	-0.5079	10	0.66056	D	0.02	.	15.8607	0.79019	0.0:0.8641:0.1359:0.0	.	231;257;144;257;257	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	E	257;257;144;144;257;231	ENSP00000336792:G257E;ENSP00000296280:G257E;ENSP00000376264:G144E;ENSP00000169293:G257E;ENSP00000376262:G231E	ENSP00000169293:G257E	G	-	2	0	MASP1	188453772	1.000000	0.71417	0.938000	0.37757	0.595000	0.36748	7.758000	0.85224	1.463000	0.47967	0.655000	0.94253	GGG		PASS	0.507	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		61	151	61	151	---	---	---	---
PIGZ	80235	broad.mit.edu	37	3	196674943	196674943	+	Silent	SNP	C	C	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr3:196674943C>T	ENST00000412723.1	-	3	971	c.825G>A	c.(823-825)acG>acA	p.T275T		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	275					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)	p.T275T(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		ACCAGCTGTCCGTGGCCACAA	0.592																																						uc003fxh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(823-825)ACG>ACA		phosphatidylinositol glycan anchor biosynthesis,							80.0	85.0	83.0					3																	196674943		2203	4300	6503	SO:0001819	synonymous_variant	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196674943C>T	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.825G>A	3.37:g.196674943C>T							p.T275T	NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	3	972	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		275			Helical; (Potential).		Q9H9G6	Silent	SNP	ENST00000412723.1	37	c.825G>A	CCDS3324.1																																																																																				PASS	0.592	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		12	41	12	41	---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44177020	44177020	+	Silent	SNP	T	T	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr4:44177020T>G	ENST00000360029.3	-	2	1492	c.1209A>C	c.(1207-1209)ccA>ccC	p.P403P		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	403					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.P403P(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GTTTGTCTGGTGGGGGTATCC	0.483										HNSCC(17;0.042)																												uc003gwu.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1207-1209)CCA>CCC		potassium channel tetramerisation domain							198.0	203.0	201.0					4																	44177020		2203	4300	6503	SO:0001819	synonymous_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44177020T>G	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1209A>C	4.37:g.44177020T>G		HNSCC(17;0.042)					p.P403P	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			2	1493	-			403					A2RU39	Silent	SNP	ENST00000360029.3	37	c.1209A>C	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.579951	0.00879	.	.	ENSG00000183783	ENST00000515268	.	.	.	4.62	0.674	0.17946	.	.	.	.	.	T	0.45418	0.1341	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23440	-1.0188	4	.	.	.	.	3.8395	0.08908	0.1495:0.271:0.0:0.5795	.	.	.	.	P	139	.	.	H	-	2	0	KCTD8	43871777	0.008000	0.16893	1.000000	0.80357	0.041000	0.13682	-1.304000	0.02741	0.041000	0.15688	-0.375000	0.07067	CAC		PASS	0.483	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			52	135	52	135	---	---	---	---
GABRB1	2560	broad.mit.edu	37	4	47428023	47428023	+	Silent	SNP	C	C	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr4:47428023C>T	ENST00000295454.3	+	9	1705	c.1413C>T	c.(1411-1413)taC>taT	p.Y471Y	GABRB1_ENST00000538619.1_Silent_p.Y401Y	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	471					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.Y471Y(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					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)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|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)	ATTGGCTTTACTATGTACACT	0.403																																						uc003gxh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1411-1413)TAC>TAT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						84.0	82.0	83.0					4																	47428023		2203	4296	6499	SO:0001819	synonymous_variant	2560				synaptic transmission	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.chr4:47428023C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1413C>T	4.37:g.47428023C>T						GABRB1_uc011bze.1_Silent_p.Y401Y	p.Y471Y	NM_000812	NP_000803	P18505	GBRB1_HUMAN			9	1787	+			471			Helical; (Probable).		B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.1413C>T	CCDS3474.1																																																																																				PASS	0.403	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			36	65	36	65	---	---	---	---
MIR1269A	100302177	broad.mit.edu	37	4	67142637	67142637	+	RNA	SNP	G	G	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr4:67142637G>C	ENST00000408636.1	+	0	96					NR_031673.1				microRNA 1269a																		tggcttccctggtctccagct	0.512																																						hsa-mir-1269|MI0006406																			0					0															18.0	21.0	20.0					4																	67142637		1553	3562	5115			100302177							g.chr4:67142637G>C			4	2011-11-14	2011-11-14	2011-11-14	ENSG00000221563	ENSG00000221563		"""ncRNAs / Micro RNAs"""	35337	non-coding RNA	RNA, micro			"""microRNA 1269"""	MIRN1269, MIR1269			Standard	NR_031673		Approved	hsa-mir-1269					4.37:g.67142637G>C																+									RNA	SNP	ENST00000408636.1	37	c.96G>C																																																																																					PASS	0.512	MIR1269A-201	KNOWN	basic	miRNA	miRNA		NR_031673		12	25	12	25	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79387483	79387483	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr4:79387483G>T	ENST00000264895.6	+	50	7591	c.7151G>T	c.(7150-7152)cGg>cTg	p.R2384L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2384					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.R2385L(1)|p.R2384L(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TACCAGAACCGGGTCAGCTAC	0.537																																						uc003hlb.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(5)	5						c.(7150-7152)CGG>CTG		Fraser syndrome 1							79.0	82.0	81.0					4																	79387483		2137	4253	6390	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79387483G>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7151G>T	4.37:g.79387483G>T	ENSP00000264895:p.Arg2384Leu						p.R2384L	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			50	7591	+			2383			CSPG 11.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.7151G>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714345	0.30413	.	.	ENSG00000138759	ENST00000264895	T	0.32753	1.44	5.53	2.83	0.33086	.	0.277568	0.35903	N	0.002918	T	0.18676	0.0448	L	0.35723	1.085	0.80722	D	1	B	0.15141	0.012	B	0.14578	0.011	T	0.05971	-1.0853	10	0.07644	T	0.81	.	7.782	0.29070	0.1317:0.0:0.5727:0.2956	.	2384	E9PHH6	.	L	2384	ENSP00000264895:R2384L	ENSP00000264895:R2384L	R	+	2	0	FRAS1	79606507	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	3.164000	0.50770	0.815000	0.34398	0.585000	0.79938	CGG		PASS	0.537	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				16	19	16	19	---	---	---	---
AFF1	4299	broad.mit.edu	37	4	87968236	87968236	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr4:87968236A>T	ENST00000307808.6	+	3	948	c.528A>T	c.(526-528)aaA>aaT	p.K176N	AFF1_ENST00000395146.4_Missense_Mutation_p.K183N|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	176					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K183N(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		ATCACAAGAAAGGTGACCGAA	0.582																																						uc003hqj.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(526-528)AAA>AAT		myeloid/lymphoid or mixed-lineage leukemia							111.0	104.0	106.0					4																	87968236		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87968236A>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.528A>T	4.37:g.87968236A>T	ENSP00000305689:p.Lys176Asn					AFF1_uc011ccx.1_Missense_Mutation_p.K117N|AFF1_uc003hqh.1_Missense_Mutation_p.K183N|AFF1_uc011ccy.1_Missense_Mutation_p.K183N|AFF1_uc011ccz.1_Missense_Mutation_p.K183N|AFF1_uc003hqk.3_Missense_Mutation_p.K176N|AFF1_uc011cda.1_Intron	p.K176N	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	3	935	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	176					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.528A>T	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	A	9.881	1.201512	0.22121	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000507468;ENST00000503477;ENST00000307808	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.68	-5.68	0.02436	.	0.398911	0.26159	N	0.025986	T	0.61489	0.2351	M	0.69823	2.125	0.21184	N	0.999764	P;B;B;P;P;P	0.48407	0.91;0.026;0.026;0.659;0.659;0.91	P;B;B;B;B;P	0.49953	0.627;0.022;0.022;0.259;0.259;0.627	T	0.57694	-0.7767	10	0.31617	T	0.26	-14.725	5.3339	0.15947	0.2067:0.0965:0.4909:0.206	.	183;183;117;176;176;183	E9PBM3;B4DXZ8;B4DJM6;Q14C88;P51825;B4DTU1	.;.;.;.;AFF1_HUMAN;.	N	183;183;183;183;176	ENSP00000378578:K183N;ENSP00000427593:K183N;ENSP00000424483:K183N;ENSP00000305689:K176N	ENSP00000305689:K176N	K	+	3	2	AFF1	88187260	0.001000	0.12720	0.834000	0.33040	0.091000	0.18340	-1.166000	0.03129	-1.117000	0.02965	-0.417000	0.06048	AAA		PASS	0.582	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		22	44	22	44	---	---	---	---
BANK1	55024	broad.mit.edu	37	4	102751013	102751014	+	Missense_Mutation	DNP	GG	GG	TT	rs35978636	byFrequency	TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr4:102751013_102751014GG>TT	ENST00000322953.4	+	2	393_394	c.119_120GG>TT	c.(118-120)tGG>tTT	p.W40F	BANK1_ENST00000508653.1_Intron|BANK1_ENST00000444316.2_Missense_Mutation_p.W10F|BANK1_ENST00000428908.1_Intron|BANK1_ENST00000504592.1_Missense_Mutation_p.W25F	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	40	Interaction with ITPR2.				B cell activation (GO:0042113)			p.W40L(1)|p.W40F(1)|p.W40C(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GCTGAGGAATGGGCTCTGTACT	0.337																																						uc003hvy.3																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(1)	3						c.(118-120)TGG>TTG|c.(118-120)TGG>TGT		B-cell scaffold protein with ankyrin repeats 1																																				SO:0001583	missense	55024				B cell activation			g.chr4:102751013G>T|g.chr4:102751014G>T	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		Exception_encountered	4.37:g.102751013_102751014delinsTT	ENSP00000320509:p.Trp40Phe					BANK1_uc003hvx.3_Missense_Mutation_p.W25L|BANK1_uc010ill.2_Intron|BANK1_uc003hvz.3_Missense_Mutation_p.W10L|BANK1_uc003hvx.3_Missense_Mutation_p.W25C|BANK1_uc010ill.2_Intron|BANK1_uc003hvz.3_Missense_Mutation_p.W10C	p.W40L|p.W40C	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	2	393|394	+		Hepatocellular(203;0.217)	40			Interaction with ITPR2.		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.119G>T|c.120G>T	CCDS34038.1																																																																																				PASS	0.337	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		11	30|31	11	30	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123107280	123107280	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr4:123107280G>T	ENST00000264501.4	+	7	821	c.448G>T	c.(448-450)Gag>Tag	p.E150*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.E150*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.E150*			Q2LD37	K1109_HUMAN	KIAA1109	150					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E150*(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACGCCTTCAAGAGTTGTTTGG	0.383																																						uc003ieh.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(448-450)GAG>TAG		fragile site-associated protein							108.0	105.0	106.0					4																	123107280		1817	4083	5900	SO:0001587	stop_gained	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123107280G>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.448G>T	4.37:g.123107280G>T	ENSP00000264501:p.Glu150*					KIAA1109_uc003iei.1_5'UTR	p.E150*	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			5	493	+			150					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Nonsense_Mutation	SNP	ENST00000264501.4	37	c.448G>T	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	38	6.831629	0.97869	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	.	.	.	4.94	4.94	0.65067	.	0.125066	0.29692	U	0.011450	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	18.1682	0.89736	0.0:0.0:1.0:0.0	.	.	.	.	X	150	.	ENSP00000264501:E150X	E	+	1	0	KIAA1109	123326730	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.605000	0.98321	2.281000	0.76405	0.467000	0.42956	GAG		PASS	0.383	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		19	32	19	32	---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125591992	125591992	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr4:125591992C>T	ENST00000504087.1	-	4	3477	c.2440G>A	c.(2440-2442)Ggt>Agt	p.G814S	ANKRD50_ENST00000515641.1_Missense_Mutation_p.G635S	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	814								p.G814S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACTGTCCTACCTTCACTATCA	0.458																																						uc003ifg.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2440-2442)GGT>AGT		ankyrin repeat domain 50							150.0	136.0	141.0					4																	125591992		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125591992C>T	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2440G>A	4.37:g.125591992C>T	ENSP00000425658:p.Gly814Ser					ANKRD50_uc011cgo.1_Missense_Mutation_p.G635S|ANKRD50_uc010inw.2_Missense_Mutation_p.G814S	p.G814S	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			3	2706	-			814			ANK 11.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.2440G>A	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498822	0.85069	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.66995	-0.24;-0.24	5.1	5.1	0.69264	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.84674	0.5524	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87211	0.2247	10	0.87932	D	0	.	18.7084	0.91646	0.0:1.0:0.0:0.0	.	814	Q9ULJ7	ANR50_HUMAN	S	814;635	ENSP00000425658:G814S;ENSP00000425355:G635S	ENSP00000425658:G814S	G	-	1	0	ANKRD50	125811442	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.164000	0.77533	2.664000	0.90586	0.561000	0.74099	GGT		PASS	0.458	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		34	52	34	52	---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162307058	162307058	+	Silent	SNP	C	C	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr4:162307058C>G	ENST00000306100.5	-	16	2821	c.2385G>C	c.(2383-2385)cgG>cgC	p.R795R	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Silent_p.R794R|FSTL5_ENST00000536695.1_Silent_p.R794R|FSTL5_ENST00000427802.2_Silent_p.R785R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	795						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R795R(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GCCTGTTTTTCCGGTTCCAAG	0.453																																						uc003iqh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(2383-2385)CGG>CGC		follistatin-like 5 isoform a							223.0	200.0	208.0					4																	162307058		2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162307058C>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2385G>C	4.37:g.162307058C>G						FSTL5_uc003iqi.2_Silent_p.R794R|FSTL5_uc010iqv.2_Silent_p.R785R|uc010iqu.1_RNA	p.R795R	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2821	-	all_hematologic(180;0.24)		795					E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.2385G>C	CCDS3802.1																																																																																				PASS	0.453	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		27	82	27	82	---	---	---	---
CLCN3	1182	broad.mit.edu	37	4	170618424	170618424	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr4:170618424C>G	ENST00000513761.1	+	9	1661	c.1102C>G	c.(1102-1104)Cca>Gca	p.P368A	CLCN3_ENST00000347613.4_Missense_Mutation_p.P368A|CLCN3_ENST00000504131.2_Missense_Mutation_p.P351A|CLCN3_ENST00000360642.3_Missense_Mutation_p.P341A	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	368					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)	p.P368A(1)		breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GTCCATCAATCCATTTGGTAA	0.363																																						uc003isi.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1102-1104)CCA>GCA		chloride channel 3 isoform b							108.0	107.0	107.0					4																	170618424		2203	4300	6503	SO:0001583	missense	1182				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170618424C>G	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1102C>G	4.37:g.170618424C>G	ENSP00000424603:p.Pro368Ala					CLCN3_uc003ish.2_Missense_Mutation_p.P368A|CLCN3_uc011cjz.1_Missense_Mutation_p.P351A|CLCN3_uc011cka.1_Missense_Mutation_p.P341A|CLCN3_uc003isj.1_Missense_Mutation_p.P341A	p.P368A	NM_001829	NP_001820	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	9	1611	+		Prostate(90;0.00601)|Renal(120;0.0183)	368					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.1102C>G	CCDS34101.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.634851|4.634851	0.87760|0.87760	.|.	.|.	ENSG00000109572|ENSG00000109572	ENST00000515420|ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	.|D;D;D;D;D	.|0.93906	.|-3.31;-3.31;-3.31;-3.31;-3.31	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Chloride channel, core (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97210|0.97210	0.9088|0.9088	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.999;1.0;1.0;0.998;0.997	.|D;D;D;D;D	.|0.83275	.|0.996;0.994;0.992;0.986;0.979	D|D	0.97289|0.97289	0.9923|0.9923	5|10	.|0.87932	.|D	.|0	-6.0631|-6.0631	20.1392|20.1392	0.98050|0.98050	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|341;351;341;368;368	.|B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.|.;.;.;CLCN3_HUMAN;.	M|A	49|368;368;341;351;341	.|ENSP00000424603:P368A;ENSP00000261514:P368A;ENSP00000353857:P341A;ENSP00000424540:P351A;ENSP00000425323:P341A	.|ENSP00000261514:P368A	I|P	+|+	3|1	3|0	CLCN3|CLCN3	170854999|170854999	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.765000|2.765000	0.95021|0.95021	0.557000|0.557000	0.71058|0.71058	ATC|CCA		PASS	0.363	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			48	71	48	71	---	---	---	---
HAPLN1	1404	broad.mit.edu	37	5	82948380	82948380	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr5:82948380C>T	ENST00000274341.4	-	3	1214	c.364G>A	c.(364-366)Gct>Act	p.A122T	HAPLN1_ENST00000514416.1_Missense_Mutation_p.A122T	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	122	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.A122T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	ACCAGAGAAGCATCACTATCA	0.443																																						uc003kim.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)|skin(1)	5						c.(364-366)GCT>ACT		hyaluronan and proteoglycan link protein 1							161.0	154.0	156.0					5																	82948380		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82948380C>T		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.364G>A	5.37:g.82948380C>T	ENSP00000274341:p.Ala122Thr					HAPLN1_uc003kin.2_Missense_Mutation_p.A122T	p.A122T	NM_001884	NP_001875	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	2	435	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	122			Ig-like V-type.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.364G>A	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376188	0.82682	.	.	ENSG00000145681	ENST00000274341;ENST00000510978;ENST00000508307;ENST00000503117;ENST00000504713;ENST00000514416;ENST00000515590	T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	6.16	6.16	0.99307	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.092272	0.85682	D	0.000000	D	0.83445	0.5256	M	0.83384	2.64	0.80722	D	1	D	0.63046	0.992	D	0.63113	0.911	D	0.84117	0.0404	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	122	P10915	HPLN1_HUMAN	T	122;122;122;121;122;122;122	ENSP00000274341:A122T;ENSP00000422592:A122T;ENSP00000421341:A122T;ENSP00000426610:A121T;ENSP00000422522:A122T;ENSP00000421726:A122T;ENSP00000423836:A122T	ENSP00000274341:A122T	A	-	1	0	HAPLN1	82984136	1.000000	0.71417	0.999000	0.59377	0.282000	0.26991	5.754000	0.68743	2.937000	0.99478	0.650000	0.86243	GCT		PASS	0.443	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		16	94	16	94	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89989783	89989783	+	Missense_Mutation	SNP	G	G	A	rs78203228		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr5:89989783G>A	ENST00000405460.2	+	33	7306	c.7210G>A	c.(7210-7212)Ggt>Agt	p.G2404S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2404					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.G2404S(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATGGAGGAAGGTCAAGATTT	0.483																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(7210-7212)GGT>AGT		G protein-coupled receptor 98 precursor							76.0	72.0	73.0					5																	89989783		1906	4125	6031	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89989783G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7210G>A	5.37:g.89989783G>A	ENSP00000384582:p.Gly2404Ser					GPR98_uc003kjt.2_Missense_Mutation_p.G110S|GPR98_uc003kjv.2_Missense_Mutation_p.G4S	p.G2404S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	33	7306	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2404			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.7210G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049302	0.75846	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.33216	1.42	6.08	5.21	0.72293	.	0.129710	0.64402	D	0.000001	T	0.42245	0.1194	M	0.70595	2.14	0.80722	D	1	P;P	0.49253	0.839;0.921	B;P	0.45406	0.114;0.479	T	0.49082	-0.8976	10	0.72032	D	0.01	.	17.5086	0.87754	0.0:0.1239:0.8761:0.0	.	2404;2404	E7ETI5;Q8WXG9	.;GPR98_HUMAN	S	2404	ENSP00000384582:G2404S	ENSP00000296619:G2404S	G	+	1	0	GPR98	90025539	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.558000	0.73942	1.571000	0.49722	0.591000	0.81541	GGT		PASS	0.483	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		5	21	5	21	---	---	---	---
ST8SIA4	7903	broad.mit.edu	37	5	100222203	100222203	+	Missense_Mutation	SNP	C	C	T	rs150785295		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr5:100222203C>T	ENST00000231461.5	-	3	657	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	ST8SIA4_ENST00000451528.2_Missense_Mutation_p.R116Q|ST8SIA4_ENST00000507360.2_5'UTR	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	116					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.R116Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GTTTAGTGTCCGGCGCCTGTC	0.438																																						uc003knk.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(346-348)CGG>CAG		ST8 alpha-N-acetyl-neuraminide		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	137.0	131.0	133.0		347,347	5.9	1.0	5	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ST8SIA4	NM_005668.4,NM_175052.1	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	116/360,116/169	100222203	1,13005	2203	4300	6503	SO:0001583	missense	7903				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr5:100222203C>T	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.347G>A	5.37:g.100222203C>T	ENSP00000231461:p.Arg116Gln					ST8SIA4_uc003knl.2_Missense_Mutation_p.R116Q	p.R116Q	NM_005668	NP_005659	Q92187	SIA8D_HUMAN		COAD - Colon adenocarcinoma(37;0.00402)	3	675	-		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)	116			Lumenal (Potential).		A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	c.347G>A	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685832	0.68157	0.0	1.16E-4	ENSG00000113532	ENST00000231461;ENST00000451528	T;T	0.29142	1.58;1.58	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	L	0.51422	1.61	0.80722	D	1	D	0.61697	0.99	P	0.49192	0.602	T	0.02226	-1.1192	10	0.25106	T	0.35	.	19.3049	0.94157	0.0:1.0:0.0:0.0	.	116	Q92187	SIA8D_HUMAN	Q	116	ENSP00000231461:R116Q;ENSP00000428914:R116Q	ENSP00000231461:R116Q	R	-	2	0	ST8SIA4	100250102	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	7.456000	0.80751	2.809000	0.96659	0.557000	0.71058	CGG		PASS	0.438	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		34	23	34	23	---	---	---	---
ISOC1	51015	broad.mit.edu	37	5	128448670	128448670	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr5:128448670G>T	ENST00000173527.5	+	5	889	c.873G>T	c.(871-873)gaG>gaT	p.E291D		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	291						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)	p.E291D(1)		kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		GTGCTCCAGAGTCGGGTCTGC	0.463																																						uc003kva.2																			1	Substitution - Missense(1)		lung(1)		0						c.(871-873)GAG>GAT		isochorismatase domain containing 1							109.0	104.0	105.0					5																	128448670		1871	4104	5975	SO:0001583	missense	51015					peroxisome	catalytic activity	g.chr5:128448670G>T	AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.873G>T	5.37:g.128448670G>T	ENSP00000173527:p.Glu291Asp						p.E291D	NM_016048	NP_057132	Q96CN7	ISOC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)	5	891	+		all_cancers(142;0.0813)|Prostate(80;0.0865)	291					Q7Z770	Missense_Mutation	SNP	ENST00000173527.5	37	c.873G>T	CCDS43357.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400576	0.25291	.	.	ENSG00000066583	ENST00000173527	.	.	.	4.93	2.1	0.27182	Isochorismatase-like (2);	0.000000	0.64402	D	0.000001	T	0.13713	0.0332	N	0.00436	-1.5	0.36779	D	0.884218	B	0.13594	0.008	B	0.10450	0.005	T	0.12811	-1.0533	8	.	.	.	-24.8451	10.7373	0.46133	0.2264:0.0:0.7736:0.0	.	291	Q96CN7	ISOC1_HUMAN	D	291	.	.	E	+	3	2	ISOC1	128476569	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	1.552000	0.36244	0.737000	0.32582	-0.137000	0.14449	GAG		PASS	0.463	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371826.1	NM_016048		53	26	53	26	---	---	---	---
TGFBI	7045	broad.mit.edu	37	5	135383035	135383035	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr5:135383035G>A	ENST00000442011.2	+	6	858	c.697G>A	c.(697-699)Gat>Aat	p.D233N	TGFBI_ENST00000305126.8_Missense_Mutation_p.D233N	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	233	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.D233N(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCACCTCATCGATAAGGTCAT	0.557																																						uc003lbf.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(697-699)GAT>AAT		transforming growth factor, beta-induced, 68kDa							201.0	200.0	200.0					5																	135383035		2141	4234	6375	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135383035G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.697G>A	5.37:g.135383035G>A	ENSP00000416330:p.Asp233Asn					TGFBI_uc003lbg.3_5'UTR|TGFBI_uc003lbh.3_Missense_Mutation_p.D59N|TGFBI_uc011cyb.1_Missense_Mutation_p.D59N|TGFBI_uc010jed.2_5'Flank	p.D233N	NM_000358	NP_000349	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	858	+			233			FAS1 1.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.697G>A	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.773811|5.773811	0.96922|0.96922	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000442011;ENST00000305126|ENST00000508767	D;D|.	0.94138|.	-3.36;-3.36|.	6.0|6.0	6.0|6.0	0.97389|0.97389	FAS1 domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83046|0.83046	0.5169|0.5169	M|M	0.82630|0.82630	2.6|2.6	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	T|T	0.82532|0.82532	-0.0410|-0.0410	10|5	0.54805|.	T|.	0.06|.	-8.526|-8.526	20.5597|20.5597	0.99324|0.99324	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	233|.	Q15582|.	BGH3_HUMAN|.	N|Q	233|8	ENSP00000416330:D233N;ENSP00000306306:D233N|.	ENSP00000306306:D233N|.	D|R	+|+	1|2	0|0	TGFBI|TGFBI	135410934|135410934	1.000000|1.000000	0.71417|0.71417	0.604000|0.604000	0.28916|0.28916	0.895000|0.895000	0.52256|0.52256	9.865000|9.865000	0.99609|0.99609	2.868000|2.868000	0.98415|0.98415	0.556000|0.556000	0.70494|0.70494	GAT|CGA		PASS	0.557	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			52	102	52	102	---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140175375	140175375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr5:140175375G>T	ENST00000526136.1	+	1	826	c.826G>T	c.(826-828)Gag>Tag	p.E276*	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Nonsense_Mutation_p.E276*|PCDHA2_ENST00000520672.2_Nonsense_Mutation_p.E276*	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	276	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E276*(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGAACAGCGAGATTGTGTA	0.408																																						uc003lhd.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)	4						c.(826-828)GAG>TAG		protocadherin alpha 2 isoform 1 precursor							111.0	105.0	107.0					5																	140175375		2203	4300	6503	SO:0001587	stop_gained	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140175375G>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.826G>T	5.37:g.140175375G>T	ENSP00000431748:p.Glu276*					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Nonsense_Mutation_p.E276*|PCDHA2_uc011czy.1_Nonsense_Mutation_p.E276*	p.E276*	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	932	+			276			Cadherin 3.|Extracellular (Potential).		O75287|Q9BTV3	Nonsense_Mutation	SNP	ENST00000526136.1	37	c.826G>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	28.5	4.926277	0.92319	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	.	.	.	4.02	4.02	0.46733	.	0.189398	0.24527	U	0.037751	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	10.3926	0.44181	0.0913:0.0:0.9087:0.0	.	.	.	.	X	276	.	ENSP00000367372:E276X	E	+	1	0	PCDHA2	140155559	0.934000	0.31675	0.354000	0.25760	0.926000	0.56050	1.738000	0.38207	2.238000	0.73509	0.650000	0.86243	GAG		PASS	0.408	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		51	19	51	19	---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140559232	140559232	+	Silent	SNP	C	C	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr5:140559232C>G	ENST00000239444.2	+	1	1862	c.1617C>G	c.(1615-1617)tcC>tcG	p.S539S	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	539	Cadherin 5. {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.S539S(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGCGGCTCCCCGGCTTTGA	0.672																																						uc011dai.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)	4						c.(1615-1617)TCC>TCG		protocadherin beta 8 precursor							61.0	105.0	90.0					5																	140559232		2203	4299	6502	SO:0001819	synonymous_variant	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559232C>G	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1617C>G	5.37:g.140559232C>G						PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.S539S	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1803	+			539			Cadherin 5.|Extracellular (Potential).		B9EGV1	Silent	SNP	ENST00000239444.2	37	c.1617C>G	CCDS4250.1																																																																																				PASS	0.672	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		27	56	27	56	---	---	---	---
PCDHGB2	56103	broad.mit.edu	37	5	140740790	140740790	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr5:140740790G>A	ENST00000522605.1	+	1	1088	c.1088G>A	c.(1087-1089)gGa>gAa	p.G363E	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	363	Cadherin 4. {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.G363E(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCCACCAGGAACAGTGATC	0.428																																						uc003ljs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1087-1089)GGA>GAA		protocadherin gamma subfamily B, 2 isoform 1							77.0	79.0	78.0					5																	140740790		2120	4255	6375	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140740790G>A	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1088G>A	5.37:g.140740790G>A	ENSP00000429018:p.Gly363Glu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.G363E	p.G363E	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1088	+			363			Extracellular (Potential).|Cadherin 4.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1088G>A	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	13.26	2.182939	0.38511	.	.	ENSG00000253910	ENST00000522605	T	0.75477	-0.94	5.3	5.3	0.74995	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.87720	0.6248	M	0.83603	2.65	0.39826	D	0.972902	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.89423	0.3711	9	0.66056	D	0.02	.	18.9301	0.92561	0.0:0.0:1.0:0.0	.	363;363	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	E	363	ENSP00000429018:G363E	ENSP00000429018:G363E	G	+	2	0	PCDHGB2	140720974	0.999000	0.42202	0.981000	0.43875	0.013000	0.08279	2.756000	0.47549	2.638000	0.89438	0.655000	0.94253	GGA		PASS	0.428	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		36	18	36	18	---	---	---	---
PCDHGA10	56106	broad.mit.edu	37	5	140793345	140793345	+	Silent	SNP	G	G	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr5:140793345G>A	ENST00000398610.2	+	1	603	c.603G>A	c.(601-603)gaG>gaA	p.E201E	PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	201	Cadherin 2. {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.E201E(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTACTGGAGCACTCCCTAG	0.587																																						uc003lkl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(601-603)GAG>GAA		protocadherin gamma subfamily A, 10 isoform 1							41.0	45.0	44.0					5																	140793345		2035	4185	6220	SO:0001819	synonymous_variant	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140793345G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.603G>A	5.37:g.140793345G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.E201E	p.E201E	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	603	+			201			Extracellular (Potential).|Cadherin 2.		Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.603G>A	CCDS47292.1																																																																																				PASS	0.587	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		13	14	13	14	---	---	---	---
ZKSCAN3	80317	broad.mit.edu	37	6	28327755	28327755	+	Missense_Mutation	SNP	C	C	T	rs199522744		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr6:28327755C>T	ENST00000377255.3	+	3	689	c.392C>T	c.(391-393)cCg>cTg	p.P131L	ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.P131L	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	131					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P131L(1)		kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CTGGATGAGCCGGCGCCGCAG	0.572																																						uc003nle.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(391-393)CCG>CTG		zinc finger with KRAB and SCAN domains 3		C	LEU/PRO,LEU/PRO,	1,4405		0,1,2202	24.0	27.0	26.0		392,392,	2.8	0.0	6		26	2,8592		0,2,4295	no	missense,missense,intron	ZKSCAN3	NM_001242894.1,NM_024493.3,NM_001242895.1	98,98,	0,3,6497	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging,possibly-damaging,	131/539,131/539,	28327755	3,12997	2203	4297	6500	SO:0001583	missense	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28327755C>T	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.392C>T	6.37:g.28327755C>T	ENSP00000366465:p.Pro131Leu					ZKSCAN3_uc010jrc.2_Missense_Mutation_p.P131L|ZKSCAN3_uc003nlf.3_Intron	p.P131L	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN			2	608	+			131					B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	c.392C>T	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	16.05	3.013785	0.54468	2.27E-4	2.33E-4	ENSG00000189298	ENST00000252211;ENST00000454413;ENST00000377255	T;T	0.04406	3.63;3.63	3.64	2.75	0.32379	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	.	.	.	.	T	0.00998	0.0033	N	0.21373	0.66	0.22500	N	0.999045	P	0.42248	0.774	B	0.35655	0.207	T	0.47623	-0.9103	9	0.17369	T	0.5	.	8.9939	0.36041	0.0:0.772:0.228:0.0	.	131	Q9BRR0	ZKSC3_HUMAN	L	131	ENSP00000252211:P131L;ENSP00000366465:P131L	ENSP00000252211:P131L	P	+	2	0	ZKSCAN3	28435734	0.000000	0.05858	0.036000	0.18154	0.971000	0.66376	0.143000	0.16115	0.843000	0.35070	0.404000	0.27445	CCG		PASS	0.572	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		4	10	4	10	---	---	---	---
OR12D2	26529	broad.mit.edu	37	6	29364842	29364842	+	Silent	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr6:29364842G>T	ENST00000383555.2	+	1	427	c.366G>T	c.(364-366)gtG>gtT	p.V122V	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V122V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						ACCTCTCTGTGGCTATCTGCA	0.507																																						uc003nmf.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(364-366)GTG>GTT		olfactory receptor, family 12, subfamily D,							98.0	98.0	98.0					6																	29364842		1511	2709	4220	SO:0001819	synonymous_variant	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29364842G>T		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.366G>T	6.37:g.29364842G>T							p.V122V	NM_013936	NP_039224	P58182	O12D2_HUMAN			1	427	+			122			Cytoplasmic (Potential).		B0S862|Q5SUN9|Q6IET9	Silent	SNP	ENST00000383555.2	37	c.366G>T	CCDS4659.1																																																																																				PASS	0.507	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			8	30	8	30	---	---	---	---
EHMT2	10919	broad.mit.edu	37	6	31854777	31854777	+	Silent	SNP	G	G	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr6:31854777G>A	ENST00000375537.4	-	16	2119	c.2113C>T	c.(2113-2115)Ctg>Ttg	p.L705L	EHMT2_ENST00000395728.3_Silent_p.L762L|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375528.4_Silent_p.L728L|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Silent_p.L671L	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	705					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.L705L(1)		central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CTGACCTGCAGCAGCACATGG	0.687																																						uc003nxz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2113-2115)CTG>TTG		euchromatic histone-lysine N-methyltransferase 2							53.0	60.0	57.0					6																	31854777		1511	2709	4220	SO:0001819	synonymous_variant	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31854777G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2113C>T	6.37:g.31854777G>A						EHMT2_uc003nxv.1_5'Flank|EHMT2_uc003nxw.1_5'Flank|EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Silent_p.L496L|EHMT2_uc011don.1_Silent_p.L728L|EHMT2_uc003nya.1_Silent_p.L671L	p.L705L	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			16	2123	-			705			ANK 2.		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	37	c.2113C>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	9.699	1.154062	0.21371	.	.	ENSG00000204371	ENST00000436026	.	.	.	5.39	4.52	0.55395	.	.	.	.	.	T	0.49236	0.1545	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50684	-0.8799	4	.	.	.	.	10.2273	0.43233	0.0:0.1478:0.6988:0.1533	.	.	.	.	V	22	.	.	A	-	2	0	EHMT2	31962756	0.932000	0.31603	1.000000	0.80357	0.998000	0.95712	1.570000	0.36439	1.238000	0.43771	0.655000	0.94253	GCT		PASS	0.687	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		4	62	4	62	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32037465	32037465	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr6:32037465G>T	ENST00000375244.3	-	15	5653	c.5452C>A	c.(5452-5454)Cag>Aag	p.Q1818K	TNXB_ENST00000375247.2_Missense_Mutation_p.Q1818K			P22105	TENX_HUMAN	tenascin XB	1900	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.Q1818K(1)|p.Q1905K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCACCACCTGGGGCTGCCCG	0.657																																						uc003nzl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(5452-5454)CAG>AAG		tenascin XB isoform 1 precursor							17.0	21.0	19.0					6																	32037465		2108	4238	6346	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32037465G>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5452C>A	6.37:g.32037465G>T	ENSP00000364393:p.Gln1818Lys						p.Q1818K	NM_019105	NP_061978	P22105	TENX_HUMAN			15	5654	-			1900			Fibronectin type-III 11.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5452C>A		.	.	.	.	.	.	.	.	.	.	G	17.77	3.471400	0.63737	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56611	0.45;0.45	5.32	5.32	0.75619	.	0.363741	0.20595	N	0.089272	T	0.48572	0.1507	L	0.55213	1.73	0.24248	N	0.995335	D	0.60575	0.988	D	0.75020	0.985	T	0.49051	-0.8979	10	0.02654	T	1	.	15.9112	0.79475	0.0:0.0:1.0:0.0	.	1818	P22105-3	.	K	1818	ENSP00000364393:Q1818K;ENSP00000364396:Q1818K	ENSP00000364393:Q1818K	Q	-	1	0	TNXB	32145443	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.736000	0.68597	2.496000	0.84212	0.591000	0.81541	CAG		PASS	0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		9	8	9	8	---	---	---	---
TFAP2D	83741	broad.mit.edu	37	6	50683050	50683050	+	Silent	SNP	C	C	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr6:50683050C>G	ENST00000008391.3	+	2	489	c.261C>G	c.(259-261)ccC>ccG	p.P87P		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.P87P(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCGTCACCCCCGACGCCTACT	0.587																																						uc003paf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|breast(1)	7						c.(259-261)CCC>CCG		transcription factor AP-2 beta-like 1							180.0	149.0	160.0					6																	50683050		2203	4300	6503	SO:0001819	synonymous_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50683050C>G	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.261C>G	6.37:g.50683050C>G						TFAP2D_uc011dwt.1_RNA	p.P87P	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			2	773	+	Lung NSC(77;0.0334)		87						Silent	SNP	ENST00000008391.3	37	c.261C>G	CCDS4933.1																																																																																				PASS	0.587	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		16	36	16	36	---	---	---	---
PRIM2	5558	broad.mit.edu	37	6	57472357	57472357	+	Splice_Site	SNP	A	A	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr6:57472357A>T	ENST00000389488.2	+	12	1234		c.e12-1		PRIM2_ENST00000607273.1_Splice_Site			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTTTGTTGTCAGGGTGCCCAT	0.438																																						uc003pdx.2																			1	Unknown(1)		lung(1)		0						c.e13-2		DNA primase polypeptide 2							181.0	164.0	170.0					6																	57472357		2013	4183	6196	SO:0001630	splice_region_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57472357A>T		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.1235-1A>T	6.37:g.57472357A>T							p.G383_splice	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	13	1235	+								Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Splice_Site	SNP	ENST00000389488.2	37	c.1148_splice																																																																																					PASS	0.438	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947	Intron	5	25	5	25	---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73904327	73904327	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr6:73904327C>A	ENST00000370398.1	+	14	2098	c.1989C>A	c.(1987-1989)agC>agA	p.S663R	KCNQ5_ENST00000355635.3_Missense_Mutation_p.S664R|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S663R|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S553R|KCNQ5_ENST00000342056.2_Missense_Mutation_p.S682R|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S654R|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S673R	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	663					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.S663R(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CTGTGGATAGCAAAGATCTTT	0.493																																					GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(1)	7						c.(1987-1989)AGC>AGA		potassium voltage-gated channel, KQT-like							94.0	94.0	94.0					6																	73904327		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73904327C>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1989C>A	6.37:g.73904327C>A	ENSP00000359425:p.Ser663Arg					KCNQ5_uc011dyh.1_Missense_Mutation_p.S682R|KCNQ5_uc011dyi.1_Missense_Mutation_p.S673R|KCNQ5_uc010kat.2_Missense_Mutation_p.S654R|KCNQ5_uc011dyj.1_Missense_Mutation_p.S553R|KCNQ5_uc011dyk.1_Missense_Mutation_p.S413R	p.S663R	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	14	2336	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	663					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.1989C>A	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835570	0.32421	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99494	-5.75;-5.76;-5.77;-5.75;-5.76;-5.79;-6.01	5.41	5.41	0.78517	.	0.090028	0.85682	D	0.000000	D	0.98764	0.9584	L	0.50333	1.59	0.28119	N	0.930696	D;P;B;P;B	0.59357	0.985;0.758;0.273;0.896;0.054	P;P;B;P;B	0.61275	0.886;0.674;0.23;0.66;0.039	D	0.97273	0.9912	10	0.37606	T	0.19	-11.1097	12.5234	0.56073	0.0:0.9234:0.0:0.0766	.	553;673;682;654;663	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	R	682;682;663;663;673;664;654;553	ENSP00000345055:S682R;ENSP00000347326:S663R;ENSP00000359425:S663R;ENSP00000385501:S673R;ENSP00000347853:S664R;ENSP00000384453:S654R;ENSP00000409861:S553R	ENSP00000345055:S682R	S	+	3	2	KCNQ5	73961048	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.275000	0.43399	2.527000	0.85204	0.561000	0.74099	AGC		PASS	0.493	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		18	43	18	43	---	---	---	---
GPR63	81491	broad.mit.edu	37	6	97247581	97247581	+	Silent	SNP	C	C	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr6:97247581C>A	ENST00000229955.3	-	2	372	c.27G>T	c.(25-27)gcG>gcT	p.A9A	GPR63_ENST00000417980.1_Silent_p.A9A	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.A9A(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		CGGTATGGAACGCAGTCAACA	0.463																																						uc010kcl.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(25-27)GCG>GCT		G protein-coupled receptor 63							117.0	106.0	110.0					6																	97247581		2203	4300	6503	SO:0001819	synonymous_variant	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97247581C>A	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.27G>T	6.37:g.97247581C>A						GPR63_uc003pou.2_Silent_p.A9A	p.A9A	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	3	505	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	9			Extracellular (Potential).		Q9UJH3	Silent	SNP	ENST00000229955.3	37	c.27G>T	CCDS5036.1																																																																																				PASS	0.463	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			18	31	18	31	---	---	---	---
HACE1	57531	broad.mit.edu	37	6	105233141	105233141	+	Silent	SNP	T	T	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr6:105233141T>A	ENST00000262903.4	-	12	1404	c.1128A>T	c.(1126-1128)acA>acT	p.T376T	HACE1_ENST00000517995.1_5'Flank|HACE1_ENST00000369125.2_Silent_p.T376T	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	376					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.T376T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TCATCAATTCTGTGGCTATTA	0.363																																						uc003pqu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(2)	7						c.(1126-1128)ACA>ACT		HECT domain and ankyrin repeat containing, E3							71.0	72.0	72.0					6																	105233141		2203	4300	6503	SO:0001819	synonymous_variant	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105233141T>A	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1128A>T	6.37:g.105233141T>A						HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Silent_p.T376T|HACE1_uc010kcx.1_5'UTR|HACE1_uc003pqt.1_Silent_p.T29T	p.T376T	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	12	1405	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	376					A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Silent	SNP	ENST00000262903.4	37	c.1128A>T	CCDS5050.1																																																																																				PASS	0.363	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		17	31	17	31	---	---	---	---
POPDC3	64208	broad.mit.edu	37	6	105609387	105609387	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr6:105609387G>A	ENST00000254765.3	-	2	676	c.398C>T	c.(397-399)tCt>tTt	p.S133F	POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	133					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)		p.S133F(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				AACCACTTCAGAGCTCAAAGC	0.463																																						uc003prb.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(397-399)TCT>TTT		popeye protein 3							119.0	125.0	123.0					6																	105609387		2203	4300	6503	SO:0001583	missense	64208					integral to membrane		g.chr6:105609387G>A	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.398C>T	6.37:g.105609387G>A	ENSP00000254765:p.Ser133Phe					uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron	p.S133F	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN			2	800	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	133					B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	ENST00000254765.3	37	c.398C>T	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874577	0.72180	.	.	ENSG00000132429	ENST00000254765	T	0.32023	1.47	5.72	4.83	0.62350	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.101206	0.64402	D	0.000002	T	0.09598	0.0236	N	0.14661	0.345	0.40746	D	0.982878	B	0.12630	0.006	B	0.15870	0.014	T	0.05517	-1.0880	10	0.35671	T	0.21	-3.0959	13.0265	0.58819	0.0:0.3914:0.6086:0.0	.	133	Q9HBV1	POPD3_HUMAN	F	133	ENSP00000254765:S133F	ENSP00000254765:S133F	S	-	2	0	POPDC3	105716080	0.121000	0.22262	1.000000	0.80357	0.996000	0.88848	1.401000	0.34589	2.704000	0.92352	0.655000	0.94253	TCT		PASS	0.463	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		21	46	21	46	---	---	---	---
ZBTB24	9841	broad.mit.edu	37	6	109802864	109802864	+	Silent	SNP	T	T	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr6:109802864T>A	ENST00000230122.3	-	2	533	c.366A>T	c.(364-366)gtA>gtT	p.V122V		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	122	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V122V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGTAAGCCTTTACCAGGTCAT	0.418																																						uc003ptl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(364-366)GTA>GTT		zinc finger and BTB domain containing 24 isoform							131.0	137.0	135.0					6																	109802864		2203	4300	6503	SO:0001819	synonymous_variant	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802864T>A	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.366A>T	6.37:g.109802864T>A						ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Silent_p.V122V|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Silent_p.V122V	p.V122V	NM_014797	NP_055612	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	2	534	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	122			BTB.		Q17RC6|Q5TED5|Q8N455	Silent	SNP	ENST00000230122.3	37	c.366A>T	CCDS34509.1																																																																																				PASS	0.418	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		26	105	26	105	---	---	---	---
AK9	221264	broad.mit.edu	37	6	109996906	109996906	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr6:109996906T>C	ENST00000424296.2	-	2	119	c.43A>G	c.(43-45)Ata>Gta	p.I15V	AK9_ENST00000341338.6_De_novo_Start_OutOfFrame|AK9_ENST00000368948.2_Missense_Mutation_p.I15V|AK9_ENST00000285397.5_Missense_Mutation_p.I15V	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	15					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.I15V(2)									TCATCAAATATATCTGCAAAA	0.313																																						uc003ptn.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(43-45)ATA>GTA		adenylate kinase domain containing 1 isoform 1							60.0	63.0	62.0					6																	109996906		2203	4294	6497	SO:0001583	missense	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109996906T>C	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.43A>G	6.37:g.109996906T>C	ENSP00000410186:p.Ile15Val					AKD1_uc003ptr.3_Missense_Mutation_p.I15V|AKD1_uc003pts.1_RNA	p.I15V	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			2	120	-			15					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.43A>G	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.401060	0.62288	.	.	ENSG00000155085	ENST00000424296;ENST00000368948;ENST00000285397;ENST00000532976	T;T;T;T	0.63913	-0.07;-0.05;0.03;0.04	5.15	3.98	0.46160	.	0.253346	0.45606	N	0.000348	T	0.56978	0.2022	L	0.59436	1.845	0.80722	D	1	P;P	0.49447	0.625;0.924	B;P	0.55112	0.212;0.769	T	0.58160	-0.7685	9	.	.	.	-16.8017	10.1138	0.42579	0.0:0.0813:0.0:0.9186	.	15;15	Q5TCS8-2;Q5TCS8	.;AKD1_HUMAN	V	15	ENSP00000410186:I15V;ENSP00000357944:I15V;ENSP00000285397:I15V;ENSP00000436325:I15V	.	I	-	1	0	AKD1	110103599	1.000000	0.71417	0.990000	0.47175	0.884000	0.51177	3.401000	0.52601	0.908000	0.36671	0.482000	0.46254	ATA		PASS	0.313	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		11	33	11	33	---	---	---	---
LPA	4018	broad.mit.edu	37	6	161015040	161015040	+	Silent	SNP	G	G	C	rs182305572		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr6:161015040G>C	ENST00000316300.5	-	22	3623	c.3579C>G	c.(3577-3579)tcC>tcG	p.S1193S	LPA_ENST00000447678.1_Silent_p.S1193S			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3701	Kringle 11. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.S1193S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTGTCATAGAGGACCAAGACT	0.483																																						uc003qtl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(3577-3579)TCC>TCG		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						151.0	152.0	151.0					6																	161015040		2062	4241	6303	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161015040G>C	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3579C>G	6.37:g.161015040G>C							p.S1193S	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	23	3699	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3701			Kringle 33.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.3579C>G	CCDS43523.1																																																																																				PASS	0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		24	37	24	37	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2415136	2415136	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr7:2415136A>C	ENST00000360876.4	+	14	2058	c.2002A>C	c.(2002-2004)Acc>Ccc	p.T668P	EIF3B_ENST00000397011.2_Missense_Mutation_p.T668P	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B									p.T668P(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CTACGTCGTCACCTCTGTGTC	0.562																																						uc003slx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2002-2004)ACC>CCC		eukaryotic translation initiation factor 3,							138.0	101.0	114.0					7																	2415136		2203	4300	6503	SO:0001583	missense	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2415136A>C	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.2002A>C	7.37:g.2415136A>C	ENSP00000354125:p.Thr668Pro					EIF3B_uc003sly.2_Missense_Mutation_p.T668P|EIF3B_uc003sma.2_Missense_Mutation_p.T396P|EIF3B_uc003smb.2_5'Flank	p.T668P	NM_003751	NP_003742	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	14	2085	+		Ovarian(82;0.0253)	668			WD 5.			Missense_Mutation	SNP	ENST00000360876.4	37	c.2002A>C	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.989867	0.74589	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.06768	3.26;3.26	5.46	5.46	0.80206	Translation initiation factor 2A, beta propellor-like domain (1);Six-bladed beta-propeller, TolB-like (1);	0.087086	0.85682	D	0.000000	T	0.38188	0.1031	M	0.92459	3.31	0.80722	D	1	D	0.67145	0.996	D	0.72982	0.979	T	0.51052	-0.8754	10	0.87932	D	0	-36.377	15.2079	0.73195	1.0:0.0:0.0:0.0	.	668	P55884	EIF3B_HUMAN	P	668;668;668;592	ENSP00000354125:T668P;ENSP00000380206:T668P	ENSP00000316638:T668P	T	+	1	0	EIF3B	2381662	1.000000	0.71417	0.909000	0.35828	0.469000	0.32828	7.349000	0.79376	2.078000	0.62432	0.533000	0.62120	ACC		PASS	0.562	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			4	47	4	47	---	---	---	---
PAPOLB	56903	broad.mit.edu	37	7	4901276	4901276	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr7:4901276C>T	ENST00000404991.1	-	1	349	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	55					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AGTTCCTCTTCCTCTTCGAAG	0.502																																						uc003snk.2																			0				ovary(1)	1						c.(166-168)GAA>AAA		poly(A) polymerase beta (testis specific)							31.0	30.0	31.0					7																	4901276		1910	4155	6065	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4901276C>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.163G>A	7.37:g.4901276C>T	ENSP00000384700:p.Glu55Lys					RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	p.E56K	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	350	-		Ovarian(82;0.0175)	55					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.166G>A		.	.	.	.	.	.	.	.	.	.	C	11.88	1.770220	0.31320	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.13	3.25	0.37280	.	.	.	.	.	T	0.64505	0.2604	M	0.64567	1.98	0.44719	D	0.997715	P	0.42039	0.769	P	0.53062	0.717	T	0.63051	-0.6723	8	0.39692	T	0.17	.	10.2422	0.43319	0.0:0.9014:0.0:0.0986	.	56	A4D1Z6	.	K	55	.	ENSP00000384700:E55K	E	-	1	0	PAPOLB	4867802	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	4.615000	0.61190	1.340000	0.45581	0.655000	0.94253	GAA		PASS	0.502	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		8	15	8	15	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88963179	88963179	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr7:88963179A>G	ENST00000333190.4	+	4	1492	c.883A>G	c.(883-885)Acc>Gcc	p.T295A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	295							metal ion binding (GO:0046872)	p.T295A(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTACACAATACCATCTCCAT	0.358										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(883-885)ACC>GCC		zinc finger protein 804B							58.0	58.0	58.0					7																	88963179		2203	4299	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963179A>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.883A>G	7.37:g.88963179A>G	ENSP00000329638:p.Thr295Ala	HNSCC(36;0.09)					p.T295A	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1421	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		295					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.883A>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	9.820	1.185599	0.21870	.	.	ENSG00000182348	ENST00000333190	T	0.05199	3.48	5.14	2.66	0.31614	.	0.585375	0.16430	N	0.214774	T	0.04137	0.0115	L	0.31294	0.92	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.43343	-0.9397	10	0.17369	T	0.5	-1.9139	4.1741	0.10343	0.6737:0.1359:0.0728:0.1176	.	295	A4D1E1	Z804B_HUMAN	A	295	ENSP00000329638:T295A	ENSP00000329638:T295A	T	+	1	0	ZNF804B	88801115	0.003000	0.15002	0.688000	0.30117	0.932000	0.56968	1.937000	0.40193	0.991000	0.38814	0.533000	0.62120	ACC		PASS	0.358	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		13	27	13	27	---	---	---	---
NAA38	84316	broad.mit.edu	37	7	117828443	117828443	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr7:117828443G>T	ENST00000249299.2	+	3	376	c.184G>T	c.(184-186)Gta>Tta	p.V62L	NAA38_ENST00000424702.1_Missense_Mutation_p.V62L|NAA38_ENST00000422760.1_Missense_Mutation_p.V41L	NM_016200.4	NP_057284.1	Q9BRA0	LSMD1_HUMAN	N(alpha)-acetyltransferase 38, NatC auxiliary subunit	104					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)		p.V62L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						ATTATACATTGTAAGAGGTGA	0.363																																						uc003vjg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(184-186)GTA>TTA		U6 snRNA-associated Sm-like protein LSm8							76.0	76.0	76.0					7																	117828443		2203	4300	6503	SO:0001583	missense	51691				nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding	g.chr7:117828443G>T		CCDS11122.1	17p13.1	2014-01-21	2014-01-21	2014-01-21		ENSG00000183011		"""N(alpha)-acetyltransferase subunits"""	28212	protein-coding gene	gene with protein product			"""LSM domain containing 1"""	LSMD1		16484612, 19398576	Standard	NM_032356		Approved	MGC14151, PFAAP2	uc002gja.3	Q9BRA0		ENST00000249299.2:c.184G>T	7.37:g.117828443G>T	ENSP00000249299:p.Val62Leu						p.V62L	NM_016200	NP_057284	O95777	NAA38_HUMAN			3	376	+			62					Q8N4M0	Missense_Mutation	SNP	ENST00000249299.2	37	c.184G>T	CCDS5775.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401821	0.62288	.	.	ENSG00000128534	ENST00000249299;ENST00000424702;ENST00000422760;ENST00000411938	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.84	5.84	0.93424	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	.	.	.	0.80722	D	1	B	0.14805	0.011	B	0.24269	0.052	T	0.19063	-1.0317	9	0.51188	T	0.08	-24.396	20.1535	0.98095	0.0:0.0:1.0:0.0	.	62	O95777	NAA38_HUMAN	L	62;62;41;73	ENSP00000249299:V62L;ENSP00000395263:V62L;ENSP00000403811:V41L;ENSP00000408267:V73L	ENSP00000249299:V62L	V	+	1	0	NAA38	117615679	1.000000	0.71417	0.422000	0.26621	0.974000	0.67602	9.234000	0.95347	2.764000	0.94973	0.650000	0.86243	GTA		PASS	0.363	NAA38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346774.2	NM_032356		8	35	8	35	---	---	---	---
FAM3C	10447	broad.mit.edu	37	7	121011442	121011442	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr7:121011442T>C	ENST00000359943.3	-	5	397	c.184A>G	c.(184-186)Aaa>Gaa	p.K62E		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	62					multicellular organismal development (GO:0007275)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	cytokine activity (GO:0005125)	p.K62E(1)		kidney(1)|lung(8)	9	all_neural(327;0.117)					GGGCAAGCTTTTGAGATCCCA	0.413																																						uc003vjx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(184-186)AAA>GAA		family with sequence similarity 3, member C							91.0	89.0	89.0					7																	121011442		2203	4300	6503	SO:0001583	missense	10447				multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity	g.chr7:121011442T>C	D87120	CCDS5782.1	7q22.1-q31.1	2014-08-14			ENSG00000196937	ENSG00000196937			18664	protein-coding gene	gene with protein product	"""predicted osteoblast protein"", ""interleukin-like EMT inducer"", ""interleukin-like epithelial-mesenchymal transition inducer"""	608618				12160727	Standard	NM_014888		Approved	GS3876, ILEI	uc010lkm.3	Q92520	OTTHUMG00000156979	ENST00000359943.3:c.184A>G	7.37:g.121011442T>C	ENSP00000353025:p.Lys62Glu					FAM3C_uc010lkm.2_Missense_Mutation_p.K62E	p.K62E	NM_014888	NP_055703	Q92520	FAM3C_HUMAN			5	432	-	all_neural(327;0.117)		62					A6NDN2|A8K3R7	Missense_Mutation	SNP	ENST00000359943.3	37	c.184A>G	CCDS5782.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.011683	0.93346	.	.	ENSG00000196937	ENST00000359943;ENST00000412653;ENST00000426156;ENST00000455828	T;T;T	0.46063	0.88;2.17;1.45	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.57286	0.2043	M	0.71581	2.175	0.80722	D	1	P	0.40931	0.733	P	0.49829	0.623	T	0.59910	-0.7365	10	0.72032	D	0.01	-30.338	16.5932	0.84781	0.0:0.0:0.0:1.0	.	62	Q92520	FAM3C_HUMAN	E	62;62;32;62	ENSP00000353025:K62E;ENSP00000408636:K62E;ENSP00000414940:K32E	ENSP00000353025:K62E	K	-	1	0	FAM3C	120798678	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.543000	0.82106	2.320000	0.78422	0.528000	0.53228	AAA		PASS	0.413	FAM3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346945.1	NM_001040020		37	41	37	41	---	---	---	---
AKR1B1	231	broad.mit.edu	37	7	134130009	134130009	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr7:134130009T>C	ENST00000285930.4	-	9	968	c.889A>G	c.(889-891)Agg>Ggg	p.R297G		NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	297					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)	p.R297G(1)		kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	GCACAGACCCTCCAGTTCCTG	0.488																																						uc003vrp.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(889-891)AGG>GGG		aldo-keto reductase family 1, member B1	NADH(DB00157)|Sulindac(DB00605)						83.0	72.0	75.0					7																	134130009		2203	4300	6503	SO:0001583	missense	231				C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr7:134130009T>C	J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.889A>G	7.37:g.134130009T>C	ENSP00000285930:p.Arg297Gly					AKR1B1_uc003vrq.1_RNA	p.R297G	NM_001628	NP_001619	P15121	ALDR_HUMAN			9	963	-			297					B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Missense_Mutation	SNP	ENST00000285930.4	37	c.889A>G	CCDS5831.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.748379	0.69533	.	.	ENSG00000085662	ENST00000285930	T	0.12147	2.71	5.03	3.83	0.44106	NADP-dependent oxidoreductase domain (2);	0.042391	0.85682	D	0.000000	T	0.21468	0.0517	M	0.78344	2.41	0.50313	D	0.999865	P	0.46220	0.874	P	0.44477	0.451	T	0.01879	-1.1255	10	0.87932	D	0	.	9.9949	0.41893	0.0:0.0:0.1703:0.8297	.	297	P15121	ALDR_HUMAN	G	297	ENSP00000285930:R297G	ENSP00000285930:R297G	R	-	1	2	AKR1B1	133780549	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.553000	0.45837	0.824000	0.34613	0.459000	0.35465	AGG		PASS	0.488	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628		2	7	2	7	---	---	---	---
BPGM	669	broad.mit.edu	37	7	134346768	134346768	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr7:134346768A>G	ENST00000393132.2	+	3	998	c.509A>G	c.(508-510)aAt>aGt	p.N170S	BPGM_ENST00000418040.1_Missense_Mutation_p.N170S|BPGM_ENST00000344924.3_Missense_Mutation_p.N170S	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	170					carbohydrate metabolic process (GO:0005975)|erythrocyte development (GO:0048821)|glycolytic process (GO:0006096)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)	p.N170S(1)		breast(1)|endometrium(1)|lung(2)|stomach(1)	5						CCCTATTGGAATGAAAGGATT	0.473																																						uc003vrv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(508-510)AAT>AGT		bisphosphoglycerate mutase							75.0	71.0	72.0					7																	134346768		2203	4300	6503	SO:0001583	missense	669				glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chr7:134346768A>G	BC017050	CCDS5833.1	7q33	2012-10-02			ENSG00000172331	ENSG00000172331	5.4.2.4		1093	protein-coding gene	gene with protein product		613896					Standard	NM_199186		Approved		uc003vrw.3	P07738	OTTHUMG00000155380	ENST00000393132.2:c.509A>G	7.37:g.134346768A>G	ENSP00000376840:p.Asn170Ser					BPGM_uc003vrw.2_Missense_Mutation_p.N170S|BPGM_uc003vrx.2_Missense_Mutation_p.N170S	p.N170S	NM_199186	NP_954655	P07738	PMGE_HUMAN			3	1050	+			170					A4D1N9	Missense_Mutation	SNP	ENST00000393132.2	37	c.509A>G	CCDS5833.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.653448	0.47362	.	.	ENSG00000172331	ENST00000344924;ENST00000418040;ENST00000393132	T;T;T	0.71698	-0.59;-0.59;-0.59	6.02	3.73	0.42828	Histidine phosphatase superfamily, clade-1 (2);	0.212843	0.56097	D	0.000035	T	0.69097	0.3073	M	0.78049	2.395	0.48452	D	0.999653	B	0.15719	0.014	B	0.14578	0.011	T	0.68265	-0.5454	10	0.59425	D	0.04	-18.3668	9.9759	0.41783	0.788:0.143:0.069:0.0	.	170	P07738	PMGE_HUMAN	S	170	ENSP00000342032:N170S;ENSP00000399838:N170S;ENSP00000376840:N170S	ENSP00000342032:N170S	N	+	2	0	BPGM	133997308	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	5.087000	0.64480	1.093000	0.41377	0.528000	0.53228	AAT		PASS	0.473	BPGM-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339763.1	NM_001724		22	35	22	35	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138604053	138604053	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr7:138604053G>A	ENST00000422774.1	-	2	367	c.319C>T	c.(319-321)Ctc>Ttc	p.L107F	KIAA1549_ENST00000440172.1_Missense_Mutation_p.L107F|KIAA1549_ENST00000242365.4_Missense_Mutation_p.L57F			Q9HCM3	K1549_HUMAN	KIAA1549	107						integral component of membrane (GO:0016021)		p.L107F(1)|p.L57F(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTGACATGGAGAGGACTGCTG	0.517			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - Missense(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(319-321)CTC>TTC		hypothetical protein LOC57670 isoform 1							83.0	86.0	85.0					7																	138604053		2007	4182	6189	SO:0001583	missense	57670					integral to membrane		g.chr7:138604053G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.319C>T	7.37:g.138604053G>A	ENSP00000416040:p.Leu107Phe					KIAA1549_uc003vuk.3_Missense_Mutation_p.L57F|KIAA1549_uc011kqj.1_Missense_Mutation_p.L107F	p.L107F	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			2	368	-			107					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.319C>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580778	0.28180	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.35605	1.3;1.3;1.3	4.34	3.43	0.39272	.	0.389599	0.18878	N	0.128656	T	0.36441	0.0967	L	0.27053	0.805	0.09310	N	1	P;P	0.52061	0.917;0.95	P;P	0.53006	0.523;0.715	T	0.13548	-1.0505	10	0.66056	D	0.02	.	11.3379	0.49516	0.0:0.1923:0.8077:0.0	.	107;107	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	F	107;57;107	ENSP00000406661:L107F;ENSP00000242365:L57F;ENSP00000416040:L107F	ENSP00000242365:L57F	L	-	1	0	KIAA1549	138254593	0.171000	0.23029	0.002000	0.10522	0.072000	0.16883	1.334000	0.33827	1.013000	0.39391	0.561000	0.74099	CTC		PASS	0.517	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			19	46	19	46	---	---	---	---
OR6B1	135946	broad.mit.edu	37	7	143701563	143701563	+	Silent	SNP	G	G	A	rs562215999		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr7:143701563G>A	ENST00000408922.2	+	1	542	c.474G>A	c.(472-474)gcG>gcA	p.A158A		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A158A(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCTCCCTGGCGAAGATCTACT	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		21965	0.0		0.0	False		,,,				2504	0.001					uc003wdt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(472-474)GCG>GCA		olfactory receptor, family 6, subfamily B,							88.0	88.0	88.0					7																	143701563		2122	4254	6376	SO:0001819	synonymous_variant	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701563G>A		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.474G>A	7.37:g.143701563G>A							p.A158A	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	474	+	Melanoma(164;0.0783)		158			Helical; Name=4; (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	ENST00000408922.2	37	c.474G>A	CCDS43667.1																																																																																				PASS	0.532	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			11	17	11	17	---	---	---	---
BIN3	55909	broad.mit.edu	37	8	22488075	22488075	+	Silent	SNP	G	G	A	rs367655750		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr8:22488075G>A	ENST00000276416.6	-	5	245	c.177C>T	c.(175-177)gcC>gcT	p.A59A	BIN3_ENST00000520292.1_Silent_p.A59A|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000519513.1_Silent_p.A5A|BIN3_ENST00000399977.4_Silent_p.A11A	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	59	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)	p.A59A(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ATATCTTCACGGCAGATTTTG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		20639	0.0		0.0	False		,,,				2504	0.001					uc003xcl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(175-177)GCC>GCT		bridging integrator 3		G		0,3890		0,0,1945	94.0	94.0	94.0		177	-3.8	0.9	8		94	1,8291		0,1,4145	no	coding-synonymous	BIN3	NM_018688.4		0,1,6090	AA,AG,GG		0.0121,0.0,0.0082		59/254	22488075	1,12181	1945	4146	6091	SO:0001819	synonymous_variant	55909				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity	g.chr8:22488075G>A		CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.177C>T	8.37:g.22488075G>A						BIN3_uc003xck.2_Silent_p.A11A|BIN3_uc010ltw.2_Silent_p.A5A	p.A59A	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	5	274	-		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)	59			BAR.		Q9BVG2|Q9NVY9	Silent	SNP	ENST00000276416.6	37	c.177C>T	CCDS47825.1																																																																																				PASS	0.557	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375895.1			5	11	5	11	---	---	---	---
EBF2	64641	broad.mit.edu	37	8	25715978	25715978	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr8:25715978G>C	ENST00000520164.1	-	14	1922	c.1385C>G	c.(1384-1386)tCt>tGt	p.S462C	EBF2_ENST00000408929.3_Missense_Mutation_p.S314C|EBF2_ENST00000535548.1_Missense_Mutation_p.S193C	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	462	Pro/Ser/Thr-rich.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S462C(4)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GGAGCTGGAAGAGTATCCCCG	0.517																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.1																			4	Substitution - Missense(4)		lung(4)	ovary(3)|skin(1)	4						c.(1384-1386)TCT>TGT		early B-cell factor 2							170.0	171.0	171.0					8																	25715978		2054	4204	6258	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25715978G>C	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1385C>G	8.37:g.25715978G>C	ENSP00000430241:p.Ser462Cys					PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	p.S462C	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	14	1402	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	462			Pro/Ser/Thr-rich.		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.1385C>G	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179565	0.57800	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.45668	0.89;0.89;0.89	5.54	5.54	0.83059	.	0.050126	0.85682	D	0.000000	T	0.37758	0.1015	N	0.25890	0.77	0.47659	D	0.99948	P	0.44478	0.836	B	0.42882	0.401	T	0.27191	-1.0081	10	0.59425	D	0.04	-3.1245	18.4615	0.90739	0.0:0.0:1.0:0.0	.	462	Q9HAK2	COE2_HUMAN	C	462;314;193	ENSP00000430241:S462C;ENSP00000386178:S314C;ENSP00000437909:S193C	ENSP00000386178:S314C	S	-	2	0	EBF2	25771895	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.985000	0.63845	2.609000	0.88269	0.655000	0.94253	TCT		PASS	0.517	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		3	29	3	29	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38162894	38162894	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr8:38162894C>A	ENST00000317025.8	-	13	2829	c.2312G>T	c.(2311-2313)gGg>gTg	p.G771V	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.G771V|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.G771V	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	771					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.G771V(1)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			ATAAAATTTCCCACAAGCACC	0.448			T	NUP98	AML																																	uc003xli.2				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(2311-2313)GGG>GTG		WHSC1L1 protein isoform long							99.0	93.0	95.0					8																	38162894		1941	4141	6082	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38162894C>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2312G>T	8.37:g.38162894C>A	ENSP00000313983:p.Gly771Val					WHSC1L1_uc011lbm.1_Missense_Mutation_p.G771V|WHSC1L1_uc010lwe.2_Missense_Mutation_p.G771V	p.G771V	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		13	2830	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	771			PHD-type 2.		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.2312G>T	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010189	0.93346	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.98264	-4.83;-4.83;-4.83	5.75	5.75	0.90469	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.49305	U	0.000156	D	0.99039	0.9671	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.71656	0.941;0.974;0.941	D	0.99744	1.1016	10	0.87932	D	0	.	19.9392	0.97153	0.0:1.0:0.0:0.0	.	771;771;771	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	V	771;771;708;771	ENSP00000393284:G771V;ENSP00000313983:G771V;ENSP00000434730:G771V	ENSP00000313983:G771V	G	-	2	0	WHSC1L1	38282051	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.713000	0.92767	0.655000	0.94253	GGG		PASS	0.448	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		12	171	12	171	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89128831	89128831	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr8:89128831T>C	ENST00000286614.6	-	6	1269	c.988A>G	c.(988-990)Acc>Gcc	p.T330A	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	330					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T330A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GGTCTGCCGGTTGGAGGCCGA	0.532																																						uc003yeb.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(988-990)ACC>GCC		matrix metalloproteinase 16 isoform 1							152.0	150.0	151.0					8																	89128831		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89128831T>C	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.988A>G	8.37:g.89128831T>C	ENSP00000286614:p.Thr330Ala					MMP16_uc003yec.2_Missense_Mutation_p.T330A	p.T330A	NM_005941	NP_005932	P51512	MMP16_HUMAN			6	1270	-			330			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.988A>G	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	T	7.923	0.738915	0.15642	.	.	ENSG00000156103	ENST00000286614	T	0.17054	2.3	5.79	5.79	0.91817	.	0.151416	0.64402	D	0.000020	T	0.13372	0.0324	L	0.36672	1.1	0.47949	D	0.999553	B;B	0.11235	0.004;0.001	B;B	0.17979	0.02;0.001	T	0.07986	-1.0744	10	0.08381	T	0.77	.	12.637	0.56689	0.0:0.0:0.1379:0.8621	.	330;330	P51512-2;P51512	.;MMP16_HUMAN	A	330	ENSP00000286614:T330A	ENSP00000286614:T330A	T	-	1	0	MMP16	89197947	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	4.142000	0.58044	2.223000	0.72356	0.455000	0.32223	ACC		PASS	0.532	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		18	39	18	39	---	---	---	---
DAPK1	1612	broad.mit.edu	37	9	90321440	90321440	+	Silent	SNP	C	C	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr9:90321440C>T	ENST00000408954.3	+	26	3789	c.3454C>T	c.(3454-3456)Ctg>Ttg	p.L1152L	DAPK1_ENST00000472284.1_Silent_p.L1152L|DAPK1_ENST00000358077.5_Silent_p.L1152L|DAPK1_ENST00000491893.1_Silent_p.L1086L|DAPK1_ENST00000469640.2_Silent_p.L1177L	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1152					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L1153L(1)|p.L1152L(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAGGTGAACCTGTGCCGGTG	0.627									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(3454-3456)CTG>TTG		death-associated protein kinase 1							76.0	83.0	80.0					9																	90321440		2181	4274	6455	SO:0001819	synonymous_variant	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90321440C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3454C>T	9.37:g.90321440C>T						DAPK1_uc004apd.2_Silent_p.L1152L|DAPK1_uc011ltg.1_Silent_p.L1086L|DAPK1_uc011lth.1_Silent_p.L889L|DAPK1_uc004apg.2_Silent_p.L129L	p.L1152L	NM_004938	NP_004929	P53355	DAPK1_HUMAN			26	3592	+			1152					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	c.3454C>T	CCDS43842.1																																																																																				PASS	0.627	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		15	8	15	8	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104432474	104432474	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr9:104432474C>A	ENST00000361820.3	-	3	2820	c.2220G>T	c.(2218-2220)tgG>tgT	p.W740C		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	740					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.W740C(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ACCTTCCAGTCCAACATTTTG	0.438																																						uc004bbp.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(2218-2220)TGG>TGT		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						91.0	86.0	88.0					9																	104432474		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104432474C>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2220G>T	9.37:g.104432474C>A	ENSP00000355155:p.Trp740Cys					GRIN3A_uc004bbq.1_Missense_Mutation_p.W740C	p.W740C	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			3	2821	-		Acute lymphoblastic leukemia(62;0.0568)	740			Cytoplasmic (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.2220G>T	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398348	0.62177	.	.	ENSG00000198785	ENST00000361820	T	0.53206	0.63	5.39	5.39	0.77823	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.55832	0.1945	L	0.55743	1.74	0.80722	D	1	P	0.36768	0.569	P	0.44860	0.462	T	0.57353	-0.7826	10	0.62326	D	0.03	.	19.5908	0.95509	0.0:1.0:0.0:0.0	.	740	Q8TCU5	NMD3A_HUMAN	C	740	ENSP00000355155:W740C	ENSP00000355155:W740C	W	-	3	0	GRIN3A	103472295	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.773000	0.85462	2.714000	0.92807	0.580000	0.79431	TGG		PASS	0.438	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			14	34	14	34	---	---	---	---
TMEM38B	55151	broad.mit.edu	37	9	108483984	108483984	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr9:108483984G>A	ENST00000374692.3	+	3	553	c.436G>A	c.(436-438)Gct>Act	p.A146T	TMEM38B_ENST00000374688.1_Missense_Mutation_p.A92T	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	146						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.A146T(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						AGTCATGATAGCTATTGGATG	0.368																																						uc004bcu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(436-438)GCT>ACT		transmembrane protein 38B							73.0	68.0	70.0					9																	108483984		2203	4300	6503	SO:0001583	missense	55151					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr9:108483984G>A	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.436G>A	9.37:g.108483984G>A	ENSP00000363824:p.Ala146Thr					TMEM38B_uc010mtn.1_Intron	p.A146T	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN			3	553	+			146			Helical; (Potential).		Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Missense_Mutation	SNP	ENST00000374692.3	37	c.436G>A	CCDS6768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.67|15.67	2.900842|2.900842	0.52227|0.52227	.|.	.|.	ENSG00000095209|ENSG00000095209	ENST00000374692;ENST00000374688|ENST00000451560	T;T|.	0.48836|.	0.8;0.82|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.159448|.	0.56097|.	D|.	0.000030|.	T|T	0.58481|0.58481	0.2125|0.2125	L|L	0.42686|0.42686	1.345|1.345	0.36065|0.36065	D|D	0.841751|0.841751	P|.	0.40660|.	0.726|.	B|.	0.42138|.	0.377|.	T|T	0.63510|0.63510	-0.6621|-0.6621	10|5	0.27785|.	T|.	0.31|.	-3.0667|-3.0667	11.9816|11.9816	0.53123|0.53123	0.0789:0.0:0.9211:0.0|0.0789:0.0:0.9211:0.0	.|.	146|.	Q9NVV0|.	TM38B_HUMAN|.	T|N	146;92|6	ENSP00000363824:A146T;ENSP00000363820:A92T|.	ENSP00000363820:A92T|.	A|S	+|+	1|2	0|0	TMEM38B|TMEM38B	107523805|107523805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	5.952000|5.952000	0.70282|0.70282	2.622000|2.622000	0.88805|0.88805	0.655000|0.655000	0.94253|0.94253	GCT|AGC		PASS	0.368	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112		19	7	19	7	---	---	---	---
GOLGA2	2801	broad.mit.edu	37	9	131019402	131019402	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr9:131019402T>C	ENST00000421699.2	-	26	2965	c.2953A>G	c.(2953-2955)Att>Gtt	p.I985V	GOLGA2_ENST00000609374.1_Missense_Mutation_p.I973V|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	985					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.I973V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						AAAAAAGGAATGCAGGGGTTG	0.557																																						uc011maw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2953-2955)ATT>GTT		Golgi autoantigen, golgin subfamily a, 2							88.0	98.0	95.0					9																	131019402		2203	4300	6503	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131019402T>C	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2953A>G	9.37:g.131019402T>C	ENSP00000416097:p.Ile985Val					GOLGA2_uc010mxw.2_Missense_Mutation_p.I308V|GOLGA2_uc004buh.2_Missense_Mutation_p.I335V	p.I985V	NM_004486	NP_004477	Q08379	GOGA2_HUMAN			26	2966	-			985					Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.2953A>G	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	t	5.095	0.203241	0.09704	.	.	ENSG00000167110	ENST00000421699;ENST00000342583	T	0.26957	1.7	5.08	-0.481	0.12082	.	0.183599	0.47093	N	0.000251	T	0.12008	0.0292	L	0.27053	0.805	0.39885	D	0.973689	B;B	0.21309	0.054;0.032	B;B	0.28553	0.091;0.081	T	0.22730	-1.0208	10	0.09084	T	0.74	.	2.434	0.04478	0.1208:0.1412:0.1257:0.6123	.	985;603	Q08379;Q08379-2	GOGA2_HUMAN;.	V	985;269	ENSP00000416097:I985V	ENSP00000342692:I269V	I	-	1	0	GOLGA2	130059223	1.000000	0.71417	0.144000	0.22314	0.001000	0.01503	1.725000	0.38074	-0.355000	0.08199	-1.328000	0.01277	ATT		PASS	0.557	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		68	36	68	36	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139412675	139412675	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr9:139412675T>C	ENST00000277541.6	-	7	1244	c.1169A>G	c.(1168-1170)aAc>aGc	p.N390S	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	390	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N390S(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATTGACAGGGTTGGTGTCGCA	0.662			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2				Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1168-1170)AAC>AGC		notch1 preproprotein							75.0	82.0	80.0					9																	139412675		2164	4271	6435	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412675T>C	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1169A>G	9.37:g.139412675T>C	ENSP00000277541:p.Asn390Ser	HNSCC(8;0.001)					p.N390S	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	7	1169	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	390			Extracellular (Potential).|EGF-like 10.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1169A>G	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.070093	0.36566	.	.	ENSG00000148400	ENST00000277541	D	0.82984	-1.67	4.82	4.82	0.62117	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.047738	0.85682	D	0.000000	T	0.67031	0.2850	N	0.12422	0.21	0.54753	D	0.999983	B	0.12013	0.005	B	0.19148	0.024	T	0.61618	-0.7026	10	0.08837	T	0.75	.	13.1976	0.59746	0.0:0.0:0.0:1.0	.	390	P46531	NOTC1_HUMAN	S	390	ENSP00000277541:N390S	ENSP00000277541:N390S	N	-	2	0	NOTCH1	138532496	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.433000	0.66520	1.803000	0.52742	0.421000	0.28195	AAC		PASS	0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		3	8	3	8	---	---	---	---
EHMT1	79813	broad.mit.edu	37	9	140605444	140605444	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr9:140605444A>T	ENST00000460843.1	+	2	74	c.47A>T	c.(46-48)cAg>cTg	p.Q16L	EHMT1_ENST00000371394.2_Intron|EHMT1_ENST00000462484.1_Missense_Mutation_p.Q16L|EHMT1_ENST00000334856.6_5'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	16					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.Q16L(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GGGGAGCCTCAGCAGGATTGC	0.582																																						uc011mfc.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|pancreas(1)	3						c.(46-48)CAG>CTG		euchromatic histone-lysine N-methyltransferase 1							21.0	24.0	23.0					9																	140605444		1566	3577	5143	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140605444A>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.47A>T	9.37:g.140605444A>T	ENSP00000417980:p.Gln16Leu					EHMT1_uc004coa.2_Missense_Mutation_p.Q16L|EHMT1_uc004cob.1_Intron	p.Q16L	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	2	84	+	all_cancers(76;0.164)		16					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.47A>T	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	A	13.43	2.234085	0.39498	.	.	ENSG00000181090	ENST00000462484;ENST00000460843	T;T	0.69435	0.93;-0.4	4.07	1.68	0.24146	.	.	.	.	.	T	0.42562	0.1208	N	0.08118	0	0.35800	D	0.823079	B;B	0.20368	0.01;0.044	B;B	0.20955	0.006;0.032	T	0.36720	-0.9736	9	0.66056	D	0.02	.	5.9245	0.19101	0.7717:0.0:0.2283:0.0	.	16;16	Q9H9B1;Q9H9B1-4	EHMT1_HUMAN;.	L	16	ENSP00000417328:Q16L;ENSP00000417980:Q16L	ENSP00000417980:Q16L	Q	+	2	0	EHMT1	139725265	0.109000	0.22037	0.260000	0.24451	0.894000	0.52154	0.194000	0.17135	0.217000	0.20800	0.533000	0.62120	CAG		PASS	0.582	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		3	0	3	0	---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	323266	323266	+	Nonstop_Mutation	SNP	T	T	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr10:323266T>A	ENST00000280886.6	-	37	4757	c.4670A>T	c.(4669-4671)tAg>tTg	p.*1557L	AL603831.1_ENST00000579524.1_RNA	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	0						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.*1557L(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GAGACGAGACTACATGTTGTA	0.527																																						uc001ifp.2																			1	Nonstop extension(1)		lung(1)	breast(4)|ovary(2)|large_intestine(1)	7						c.(4669-4671)TAG>TTG		DIP2 disco-interacting protein 2 homolog C							104.0	93.0	97.0					10																	323266		2203	4300	6503	SO:0001578	stop_lost	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:323266T>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.4670A>T	10.37:g.323266T>A							p.*1557L	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	37	4760	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1557					B4DPI5|Q5SS78	Nonstop_Mutation	SNP	ENST00000280886.6	37	c.4670A>T	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.561731	0.65538	.	.	ENSG00000151240	ENST00000280886;ENST00000535541	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	.	.	.	L	1557;482	.	.	X	-	2	0	DIP2C	313266	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	5.073000	0.64395	2.317000	0.78254	0.459000	0.35465	TAG		PASS	0.527	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		6	30	6	30	---	---	---	---
GTPBP4	23560	broad.mit.edu	37	10	1058523	1058523	+	Missense_Mutation	SNP	G	G	A	rs369802399		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr10:1058523G>A	ENST00000360803.4	+	14	1545	c.1463G>A	c.(1462-1464)cGa>cAa	p.R488Q	GTPBP4_ENST00000545048.1_Missense_Mutation_p.R441Q|GTPBP4_ENST00000538293.1_Missense_Mutation_p.R372Q	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	488					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.R488Q(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		AAGCAAATTCGAGAGAAAAAG	0.443																																						uc001ift.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1462-1464)CGA>CAA		G protein-binding protein CRFG		G	GLN/ARG	0,4406		0,0,2203	68.0	77.0	74.0		1463	5.2	1.0	10		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	GTPBP4	NM_012341.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	488/635	1058523	1,13005	2203	4300	6503	SO:0001583	missense	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1058523G>A	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1463G>A	10.37:g.1058523G>A	ENSP00000354040:p.Arg488Gln					GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.R372Q|GTPBP4_uc010qae.1_Missense_Mutation_p.R441Q	p.R488Q	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	14	1534	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	488					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	c.1463G>A	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297074	0.81025	0.0	1.16E-4	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.37915	1.19;1.17;1.19	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.66954	0.2842	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.72629	-0.4235	10	0.56958	D	0.05	-4.7945	19.1605	0.93529	0.0:0.0:1.0:0.0	.	488	Q9BZE4	NOG1_HUMAN	Q	488;372;441	ENSP00000354040:R488Q;ENSP00000444277:R372Q;ENSP00000445473:R441Q	ENSP00000354040:R488Q	R	+	2	0	GTPBP4	1048523	1.000000	0.71417	0.972000	0.41901	0.175000	0.22909	6.083000	0.71326	2.619000	0.88677	0.555000	0.69702	CGA		PASS	0.443	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		9	23	9	23	---	---	---	---
MPP7	143098	broad.mit.edu	37	10	28348580	28348580	+	Splice_Site	SNP	T	T	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr10:28348580T>C	ENST00000375732.1	-	14	1556	c.1297A>G	c.(1297-1299)Aag>Gag	p.K433E	MPP7_ENST00000337532.5_Splice_Site_p.K433E|MPP7_ENST00000375719.3_Splice_Site_p.K433E|MPP7_ENST00000445954.2_Splice_Site_p.K308E|MPP7_ENST00000540098.1_Splice_Site_p.K433E			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	433	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)	p.K433E(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCCACATACTTGTTATTTTGT	0.358																																						uc001iua.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1297-1299)AAG>GAG		palmitoylated membrane protein 7							99.0	97.0	98.0					10																	28348580		2202	4300	6502	SO:0001630	splice_region_variant	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28348580T>C	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1298+1A>G	10.37:g.28348580T>C						MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.K433E|MPP7_uc009xla.2_Missense_Mutation_p.K433E|MPP7_uc010qdv.1_RNA	p.K433E	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN			16	1701	-			433			Guanylate kinase-like.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	c.1297A>G	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	T	32	5.174787	0.94807	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595;ENST00000445954	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.9	5.9	0.94986	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	L	0.28192	0.835	0.80722	D	1	D	0.69078	0.997	D	0.71414	0.973	T	0.43750	-0.9372	10	0.27785	T	0.31	.	16.3322	0.83039	0.0:0.0:0.0:1.0	.	433	Q5T2T1	MPP7_HUMAN	E	433;433;433;433;194;308	ENSP00000364884:K433E;ENSP00000337907:K433E;ENSP00000438693:K433E;ENSP00000364871:K433E;ENSP00000398319:K194E;ENSP00000405397:K308E	ENSP00000337907:K433E	K	-	1	0	MPP7	28388586	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.679000	0.84048	2.251000	0.74343	0.528000	0.53228	AAG		PASS	0.358	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496	Missense_Mutation	14	30	14	30	---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29759370	29759370	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr10:29759370T>C	ENST00000355867.4	-	32	6430	c.5678A>G	c.(5677-5679)gAa>gGa	p.E1893G	SVIL_ENST00000375400.3_Missense_Mutation_p.E1467G|SVIL_ENST00000375398.2_Missense_Mutation_p.E1893G|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.E807G|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000446807.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1893					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.E1893G(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CAAATTCCCTTCCACGGGCAC	0.617																																						uc001iut.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(5677-5679)GAA>GGA		supervillin isoform 2							110.0	95.0	100.0					10																	29759370		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29759370T>C	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5678A>G	10.37:g.29759370T>C	ENSP00000348128:p.Glu1893Gly					LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.E807G|SVIL_uc001iuu.1_Missense_Mutation_p.E1467G	p.E1893G	NM_021738	NP_068506	O95425	SVIL_HUMAN			32	6431	-		Breast(68;0.103)	1893			Gelsolin-like 4.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.5678A>G	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	T	33	5.252444	0.95336	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.68007	0.2954	M	0.71871	2.18	0.80722	D	1	D;B;D	0.63880	0.993;0.312;0.957	D;B;P	0.72075	0.976;0.281;0.71	T	0.71570	-0.4553	10	0.72032	D	0.01	-8.0895	15.7987	0.78433	0.0:0.0:0.0:1.0	.	807;1467;1893	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	G	1467;1893;1893;807	ENSP00000364549:E1467G;ENSP00000364547:E1893G;ENSP00000348128:E1893G;ENSP00000445472:E807G	ENSP00000348128:E1893G	E	-	2	0	SVIL	29799376	1.000000	0.71417	0.295000	0.24960	0.844000	0.47949	7.900000	0.87376	2.127000	0.65507	0.528000	0.53228	GAA		PASS	0.617	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			11	30	11	30	---	---	---	---
PRF1	5551	broad.mit.edu	37	10	72360409	72360409	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr10:72360409T>G	ENST00000441259.1	-	2	410	c.250A>C	c.(250-252)Acc>Ccc	p.T84P	PRF1_ENST00000373209.2_Missense_Mutation_p.T84P	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	84	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)	p.T84P(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CGCTGGAGGGTGCCCTCCTGT	0.662			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													uc009xqg.2			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		various leukaemia|lymphoma			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(250-252)ACC>CCC		perforin 1 precursor							31.0	31.0	31.0					10																	72360409		2203	4300	6503	SO:0001583	missense	5551	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72360409T>G	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.250A>C	10.37:g.72360409T>G	ENSP00000398568:p.Thr84Pro					PRF1_uc001jrf.3_Missense_Mutation_p.T84P	p.T84P	NM_001083116	NP_001076585	P14222	PERF_HUMAN			2	411	-			84			MACPF.		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.250A>C	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	T	7.265	0.605903	0.14002	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.91124	-2.79;-2.79	5.57	-1.68	0.08212	Membrane attack complex component/perforin (MACPF) domain (1);	1.046920	0.07443	N	0.897716	T	0.80121	0.4565	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.63976	-0.6515	10	0.35671	T	0.21	-8.3892	2.3318	0.04238	0.1216:0.4276:0.1199:0.331	.	84	P14222	PERF_HUMAN	P	84	ENSP00000362305:T84P;ENSP00000398568:T84P	ENSP00000316746:T84P	T	-	1	0	PRF1	72030415	0.000000	0.05858	0.000000	0.03702	0.251000	0.25915	-0.892000	0.04131	-0.026000	0.13895	-0.441000	0.05720	ACC		PASS	0.662	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		6	26	6	26	---	---	---	---
SORBS1	10580	broad.mit.edu	37	10	97131754	97131754	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr10:97131754C>G	ENST00000361941.3	-	18	1816	c.1790G>C	c.(1789-1791)aGa>aCa	p.R597T	SORBS1_ENST00000393949.1_Missense_Mutation_p.R567T|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.R619T|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000354106.3_Missense_Mutation_p.R567T|SORBS1_ENST00000371247.2_Missense_Mutation_p.R597T|SORBS1_ENST00000371245.3_Missense_Mutation_p.R482T|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.R619T|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000353505.5_Missense_Mutation_p.R482T|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.R551T|SORBS1_ENST00000474353.2_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.R482T(1)|p.R597T(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TCTATCCTCTCTAGGAAGGAT	0.453																																						uc001kkp.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1789-1791)AGA>ACA		sorbin and SH3 domain containing 1 isoform 3							114.0	99.0	104.0					10																	97131754		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97131754C>G	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1790G>C	10.37:g.97131754C>G	ENSP00000355136:p.Arg597Thr					SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Missense_Mutation_p.R199T|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Missense_Mutation_p.R619T|SORBS1_uc001kkq.2_Missense_Mutation_p.R482T|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.R551T|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Intron	p.R597T	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	18	1835	-		Colorectal(252;0.0429)	597						Missense_Mutation	SNP	ENST00000361941.3	37	c.1790G>C	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884333	0.72410	.	.	ENSG00000095637	ENST00000371245;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T;T	0.55234	0.53;3.09;3.06;3.42;2.96;0.53;3.09;3.42;2.96	5.69	5.69	0.88448	.	0.000000	0.42821	D	0.000644	T	0.58566	0.2131	N	0.19112	0.55	0.80722	D	1	D;D;D;D;P	0.76494	0.996;0.996;0.999;0.994;0.908	D;D;D;D;B	0.78314	0.99;0.944;0.991;0.919;0.436	T	0.61997	-0.6947	10	0.62326	D	0.03	-12.5268	14.6193	0.68572	0.1457:0.8543:0.0:0.0	.	551;482;597;619;567	Q9BX66-11;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-5	.;.;SRBS1_HUMAN;.;.	T	482;597;551;619;567;482;597;619;567	ENSP00000360291:R482T;ENSP00000360293:R597T;ENSP00000360271:R551T;ENSP00000360292:R619T;ENSP00000377521:R567T;ENSP00000343998:R482T;ENSP00000355136:R597T;ENSP00000277982:R619T;ENSP00000277984:R567T	ENSP00000277982:R619T	R	-	2	0	SORBS1	97121744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.035000	0.49759	2.691000	0.91804	0.561000	0.74099	AGA		PASS	0.453	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			4	7	4	7	---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118385516	118385516	+	RNA	SNP	G	G	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr10:118385516G>A	ENST00000298771.7	+	0	289				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.K88K(2)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TGGACCGCAAGACACGCTTCA	0.498																																						uc001lcq.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)	1						c.(265-267)AAG>AAA		pancreatic lipase-related protein 2							72.0	79.0	77.0					10																	118385516		2150	4276	6426			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118385516G>A	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118385516G>A						PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	p.K89K	NM_005396	NP_005387	P54317	LIPR2_HUMAN		all cancers(201;0.015)	6	290	+			88					A8K627|Q6IB55	Silent	SNP	ENST00000298771.7	37	c.267G>A																																																																																					PASS	0.498	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		7	13	7	13	---	---	---	---
MTG1	92170	broad.mit.edu	37	10	135233567	135233567	+	Silent	SNP	A	A	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr10:135233567A>T	ENST00000317502.6	+	11	953	c.903A>T	c.(901-903)gcA>gcT	p.A301A	MTG1_ENST00000477902.2_Silent_p.A260A|RP11-108K14.8_ENST00000468317.2_Silent_p.A306A	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	301					GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A301A(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		ATCCTGCGGCAGCCCGTGACT	0.627																																						uc001lnd.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(901-903)GCA>GCT		GTP_binding protein precursor							117.0	92.0	101.0					10																	135233567		2203	4300	6503	SO:0001819	synonymous_variant	92170					mitochondrion	GTP binding|protein binding	g.chr10:135233567A>T		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.903A>T	10.37:g.135233567A>T						MTG1_uc010qve.1_Silent_p.A166A	p.A301A	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)	11	1007	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	301					Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Silent	SNP	ENST00000317502.6	37	c.903A>T	CCDS31320.1																																																																																				PASS	0.627	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		23	46	23	46	---	---	---	---
MUC5AC	4586	broad.mit.edu	37	11	1157826	1157826	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr11:1157826G>T	ENST00000356191.2	+	13	884	c.884G>T	c.(883-885)tGt>tTt	p.C295F				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	298					cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.C298F(1)		NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CTCTGCTTCTGTGAAGACACC	0.657																																						uc009ycr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(892-894)TGT>TTT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							75.0	75.0	75.0					11																	1157826		875	1990	2865	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1157826G>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.884G>T	11.37:g.1157826G>T	ENSP00000348519:p.Cys295Phe						p.C298F	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	9	1019	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	294					O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.893G>T		.	.	.	.	.	.	.	.	.	.	g	13.77	2.336727	0.41398	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	T;T	0.78003	-1.14;-1.14	3.19	3.19	0.36642	.	.	.	.	.	D	0.87208	0.6120	M	0.79011	2.435	.	.	.	D	0.71674	0.998	D	0.77557	0.99	D	0.91146	0.4949	8	0.87932	D	0	.	14.9425	0.71006	0.0:0.0:1.0:0.0	.	298	A7Y9J9	.	F	298;295	ENSP00000435591:C298F;ENSP00000348519:C295F	ENSP00000348519:C295F	C	+	2	0	MUC5AC	1147826	1.000000	0.71417	0.055000	0.19348	0.036000	0.12997	4.539000	0.60657	1.813000	0.52934	0.436000	0.28706	TGT		PASS	0.657	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		15	31	15	31	---	---	---	---
OR51T1	401665	broad.mit.edu	37	11	4903507	4903507	+	Silent	SNP	G	G	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr11:4903507G>A	ENST00000322049.1	+	1	378	c.378G>A	c.(376-378)gtG>gtA	p.V126V	OR51T1_ENST00000380378.1_Silent_p.V153V|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V126V(1)|p.V153V(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCGCTTCGTGGCTATCTGTA	0.478																																						uc010qyp.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(457-459)GTG>GTA		olfactory receptor, family 51, subfamily T,							149.0	127.0	134.0					11																	4903507		2201	4298	6499	SO:0001819	synonymous_variant	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903507G>A	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.378G>A	11.37:g.4903507G>A							p.V153V	NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	459	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	126			Cytoplasmic (Potential).		Q6IFH9	Silent	SNP	ENST00000322049.1	37	c.459G>A																																																																																					PASS	0.478	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		39	76	39	76	---	---	---	---
MRGPRX1	259249	broad.mit.edu	37	11	18955514	18955514	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr11:18955514A>G	ENST00000302797.3	-	1	1042	c.818T>C	c.(817-819)tTc>tCc	p.F273S	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'Flank	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	273					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F273S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCCCACGAAGAAGTAAATGAT	0.498																																						uc001mpg.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|central_nervous_system(1)	3						c.(817-819)TTC>TCC		MAS-related GPR, member X1							78.0	76.0	77.0					11																	18955514		2194	4285	6479	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955514A>G		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.818T>C	11.37:g.18955514A>G	ENSP00000305766:p.Phe273Ser						p.F273S	NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN			1	1036	-			273			Helical; Name=7; (Potential).		Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.818T>C	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	15.47	2.843453	0.51057	.	.	ENSG00000170255	ENST00000302797	T	0.35973	1.28	2.28	1.06	0.20224	.	0.210366	0.32753	N	0.005690	T	0.58047	0.2095	M	0.89095	3.005	0.24952	N	0.991781	D	0.89917	1.0	D	0.80764	0.994	T	0.48139	-0.9061	10	0.66056	D	0.02	.	5.8925	0.18921	0.8513:0.0:0.1487:0.0	.	273	Q96LB2	MRGX1_HUMAN	S	273	ENSP00000305766:F273S	ENSP00000305766:F273S	F	-	2	0	MRGPRX1	18912090	0.181000	0.23161	0.242000	0.24170	0.383000	0.30230	1.546000	0.36179	0.280000	0.22209	0.402000	0.26972	TTC		PASS	0.498	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		12	30	12	30	---	---	---	---
OR4C16	219428	broad.mit.edu	37	11	55339938	55339939	+	Missense_Mutation	DNP	TC	TC	AA	rs143747626		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr11:55339938_55339939TC>AA	ENST00000314634.3	+	1	335_336	c.335_336TC>AA	c.(334-336)aTC>aAA	p.I112K		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I112N(1)|p.I112I(1)|p.I112K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GAGATCTTCATCCTCATCCTCA	0.49																																						uc010rih.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|skin(1)	2						c.(334-336)ATC>AAC|c.(334-336)ATC>ATA		olfactory receptor, family 4, subfamily C,																																				SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339938T>A|g.chr11:55339939C>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	Exception_encountered	11.37:g.55339938_55339939delinsAA	ENSP00000324913:p.Ile112Lys						p.I112N|p.I112I	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	335|336	+		all_epithelial(135;0.0748)	112			Helical; Name=3; (Potential).		Q6IEV8	Missense_Mutation|Silent	SNP	ENST00000314634.3	37	c.335T>A|c.336C>A	CCDS31502.1																																																																																				PASS	0.490	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		36|35	98|99	35	98	---	---	---	---
OR4P4	81300	broad.mit.edu	37	11	55406540	55406540	+	Missense_Mutation	SNP	C	C	G	rs201855113		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr11:55406540C>G	ENST00000314612.2	+	1	707	c.707C>G	c.(706-708)gCc>gGc	p.A236G		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A236G(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AAAGCTCTTGCCACTTGTAGT	0.373																																						uc010rij.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(706-708)GCC>GGC		olfactory receptor, family 4, subfamily P,							210.0	149.0	170.0					11																	55406540		2181	4032	6213	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406540C>G	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.707C>G	11.37:g.55406540C>G	ENSP00000324831:p.Ala236Gly						p.A236G	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	707	+			236			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000314612.2	37	c.707C>G	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829822	0.32329	.	.	ENSG00000181927	ENST00000314612	T	0.00091	8.74	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.188069	0.26411	N	0.024528	T	0.00144	0.0004	N	0.11560	0.145	0.20196	N	0.999922	B	0.16166	0.016	B	0.28638	0.092	T	0.59627	-0.7419	10	0.87932	D	0	-8.5716	16.9274	0.86180	0.0:1.0:0.0:0.0	.	236	Q8NGL7	OR4P4_HUMAN	G	236	ENSP00000324831:A236G	ENSP00000324831:A236G	A	+	2	0	OR4P4	55163116	0.000000	0.05858	0.953000	0.39169	0.142000	0.21351	0.202000	0.17295	2.575000	0.86900	0.637000	0.83480	GCC		PASS	0.373	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		37	16	37	16	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587418	55587418	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr11:55587418T>A	ENST00000333976.4	+	1	333	c.313T>A	c.(313-315)Ttc>Atc	p.F105I		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F105I(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ATTCTTTTTCTTCTGTACCTT	0.418																																						uc010rin.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(313-315)TTC>ATC		olfactory receptor, family 5, subfamily D,							176.0	178.0	177.0					11																	55587418		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587418T>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.313T>A	11.37:g.55587418T>A	ENSP00000335025:p.Phe105Ile						p.F105I	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	313	+		all_epithelial(135;0.208)	105			Helical; Name=3; (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.313T>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	12.80	2.047653	0.36085	.	.	ENSG00000186119	ENST00000333976	T	0.00299	8.22	4.75	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001133	T	0.00210	0.0006	L	0.41124	1.26	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.40327	-0.9569	10	0.72032	D	0.01	-46.8448	8.6992	0.34316	0.0:0.0926:0.0:0.9074	.	105	Q8NGL1	OR5DI_HUMAN	I	105	ENSP00000335025:F105I	ENSP00000335025:F105I	F	+	1	0	OR5D18	55343994	0.000000	0.05858	0.285000	0.24819	0.264000	0.26372	0.469000	0.22067	0.826000	0.34661	0.462000	0.41574	TTC		PASS	0.418	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		54	127	54	127	---	---	---	---
OR5AR1	219493	broad.mit.edu	37	11	56431579	56431579	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr11:56431579G>C	ENST00000302969.2	+	1	442	c.418G>C	c.(418-420)Gtc>Ctc	p.V140L		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V140L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GTCCAAGCAGGTCTGCTTGGC	0.517																																						uc010rjm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(418-420)GTC>CTC		olfactory receptor, family 5, subfamily AR,							202.0	183.0	190.0					11																	56431579		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431579G>C	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.418G>C	11.37:g.56431579G>C	ENSP00000302639:p.Val140Leu						p.V140L	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			1	418	+			140			Helical; Name=4; (Potential).		Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.418G>C	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	G	9.361	1.068040	0.20067	.	.	ENSG00000172459	ENST00000302969	T	0.00058	8.79	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000611	T	0.00144	0.0004	L	0.35854	1.095	0.20196	N	0.999926	B	0.20459	0.045	B	0.18871	0.023	T	0.47235	-0.9133	10	0.33141	T	0.24	.	13.4291	0.61044	0.0:0.2749:0.7251:0.0	.	140	Q8NGP9	O5AR1_HUMAN	L	140	ENSP00000302639:V140L	ENSP00000302639:V140L	V	+	1	0	OR5AR1	56188155	0.001000	0.12720	0.971000	0.41717	0.885000	0.51271	0.527000	0.22987	2.575000	0.86900	0.573000	0.79308	GTC		PASS	0.517	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		51	97	51	97	---	---	---	---
OR5AR1	219493	broad.mit.edu	37	11	56431588	56431588	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr11:56431588G>C	ENST00000302969.2	+	1	451	c.427G>C	c.(427-429)Gct>Cct	p.A143P		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A143P(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GGTCTGCTTGGCTCTCATGCT	0.517																																						uc010rjm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(427-429)GCT>CCT		olfactory receptor, family 5, subfamily AR,							199.0	180.0	187.0					11																	56431588		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431588G>C	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.427G>C	11.37:g.56431588G>C	ENSP00000302639:p.Ala143Pro						p.A143P	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			1	427	+			143			Helical; Name=4; (Potential).		Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.427G>C	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	G	9.570	1.120749	0.20877	.	.	ENSG00000172459	ENST00000302969	T	0.00158	8.65	4.94	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	1.028510	0.07757	N	0.949426	T	0.00109	0.0003	N	0.10760	0.04	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.12218	-1.0556	10	0.34782	T	0.22	.	7.4947	0.27481	0.2836:0.0:0.7164:0.0	.	143	Q8NGP9	O5AR1_HUMAN	P	143	ENSP00000302639:A143P	ENSP00000302639:A143P	A	+	1	0	OR5AR1	56188164	0.000000	0.05858	0.971000	0.41717	0.967000	0.64934	-0.300000	0.08243	1.231000	0.43661	0.573000	0.79308	GCT		PASS	0.517	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		50	93	50	93	---	---	---	---
OR9G4	283189	broad.mit.edu	37	11	56511195	56511195	+	Silent	SNP	A	A	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr11:56511195A>T	ENST00000302957.3	-	1	92	c.93T>A	c.(91-93)ggT>ggA	p.G31G		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G31G(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CTGCTGAGAAACCCAACAAGA	0.433																																						uc010rjo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(91-93)GGT>GGA		olfactory receptor, family 9, subfamily G,							81.0	75.0	77.0					11																	56511195		2201	4296	6497	SO:0001819	synonymous_variant	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56511195A>T	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.93T>A	11.37:g.56511195A>T							p.G31G	NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN			1	93	-			31			Extracellular (Potential).		Q6IF62|Q96RA9	Silent	SNP	ENST00000302957.3	37	c.93T>A	CCDS31537.1																																																																																				PASS	0.433	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		12	49	12	49	---	---	---	---
OR4D10	390197	broad.mit.edu	37	11	59245829	59245829	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr11:59245829T>G	ENST00000530162.1	+	1	984	c.927T>G	c.(925-927)gaT>gaG	p.D309E		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D309E(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCCTTCTGATAGAAAATAGA	0.368																																						uc001nnz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(925-927)GAT>GAG		olfactory receptor, family 4, subfamily D,							29.0	30.0	30.0					11																	59245829		2201	4295	6496	SO:0001583	missense	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245829T>G	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.927T>G	11.37:g.59245829T>G	ENSP00000436424:p.Asp309Glu						p.D309E	NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN			1	927	+			309			Cytoplasmic (Potential).		B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	c.927T>G	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	T	0.021	-1.421604	0.01126	.	.	ENSG00000254466	ENST00000530162	T	0.12774	2.65	3.99	-7.99	0.01131	.	.	.	.	.	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34576	-0.9823	9	0.02654	T	1	.	1.9846	0.03433	0.2982:0.3852:0.0879:0.2287	.	309	Q8NGI6	OR4DA_HUMAN	E	309	ENSP00000436424:D309E	ENSP00000436424:D309E	D	+	3	2	OR4D10	59002405	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.914000	0.00697	-2.911000	0.00308	-0.391000	0.06502	GAT		PASS	0.368	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		8	7	8	7	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62286513	62286513	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr11:62286513A>C	ENST00000378024.4	-	5	15650	c.15376T>G	c.(15376-15378)Ttg>Gtg	p.L5126V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5126					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.L5126V(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCGCTGGCAAAGAAAGTTCC	0.493																																						uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(15376-15378)TTG>GTG		AHNAK nucleoprotein isoform 1							71.0	71.0	71.0					11																	62286513		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62286513A>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15376T>G	11.37:g.62286513A>C	ENSP00000367263:p.Leu5126Val					AHNAK_uc001ntk.1_Intron	p.L5126V	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	15676	-		Melanoma(852;0.155)	5126					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.15376T>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.577291	0.00887	.	.	ENSG00000124942	ENST00000378024	T	0.00873	5.59	4.7	4.7	0.59300	.	0.346876	0.18618	N	0.135980	T	0.01029	0.0034	N	0.17312	0.475	0.09310	N	1	B	0.25719	0.132	B	0.35278	0.199	T	0.52859	-0.8519	10	0.25106	T	0.35	-3.8343	10.7459	0.46181	0.7913:0.2087:0.0:0.0	.	5126	Q09666	AHNK_HUMAN	V	5126	ENSP00000367263:L5126V	ENSP00000367263:L5126V	L	-	1	2	AHNAK	62043089	0.875000	0.30112	0.552000	0.28243	0.072000	0.16883	2.315000	0.43752	1.877000	0.54381	0.443000	0.29094	TTG		PASS	0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		22	37	22	37	---	---	---	---
SYT12	91683	broad.mit.edu	37	11	66807557	66807557	+	Silent	SNP	G	G	T	rs531910830		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr11:66807557G>T	ENST00000393946.2	+	7	1666	c.504G>T	c.(502-504)acG>acT	p.T168T	SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000527043.1_Silent_p.T168T|SYT12_ENST00000525457.1_Silent_p.T168T			Q8IV01	SYT12_HUMAN	synaptotagmin XII	168	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)		p.T168T(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CCTCCCACACGCTGAACGTGG	0.627																																					Ovarian(65;2862 3307)	uc009yrl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(502-504)ACG>ACT		synaptotagmin XII							67.0	63.0	64.0					11																	66807557		2200	4295	6495	SO:0001819	synonymous_variant	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66807557G>T	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.504G>T	11.37:g.66807557G>T						SYT12_uc001oju.2_Silent_p.T168T	p.T168T	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN			4	734	+			168			C2 1.|Cytoplasmic (Potential).			Silent	SNP	ENST00000393946.2	37	c.504G>T	CCDS8154.1																																																																																				PASS	0.627	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		3	30	3	30	---	---	---	---
RNF26	79102	broad.mit.edu	37	11	119206134	119206134	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr11:119206134G>A	ENST00000311413.4	+	1	898	c.302G>A	c.(301-303)gGg>gAg	p.G101E	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	101						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.G101E(1)		cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		AAGCTCCTGGGGCACCTGGCC	0.612																																						uc001pwh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(301-303)GGG>GAG		ring finger protein 26							108.0	104.0	105.0					11																	119206134		2199	4295	6494	SO:0001583	missense	79102						zinc ion binding	g.chr11:119206134G>A	AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"""RING-type (C3HC4) zinc fingers"""	14646	protein-coding gene	gene with protein product	"""ring finger protein with leucine zipper"""	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.302G>A	11.37:g.119206134G>A	ENSP00000312439:p.Gly101Glu						p.G101E	NM_032015	NP_114404	Q9BY78	RNF26_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)	1	898	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	101			Leu-rich.		Q542Y8	Missense_Mutation	SNP	ENST00000311413.4	37	c.302G>A	CCDS8419.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947470	0.92593	.	.	ENSG00000173456	ENST00000311413	T	0.77877	-1.13	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	D	0.85695	0.5756	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86859	0.2028	10	0.72032	D	0.01	-17.8807	16.6372	0.85062	0.0:0.0:1.0:0.0	.	101	Q9BY78	RNF26_HUMAN	E	101	ENSP00000312439:G101E	ENSP00000312439:G101E	G	+	2	0	RNF26	118711344	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.857000	0.92250	2.462000	0.83206	0.655000	0.94253	GGG		PASS	0.612	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388220.1	NM_032015		23	66	23	66	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124740172	124740172	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr11:124740172A>T	ENST00000397801.1	+	5	1070	c.878A>T	c.(877-879)aAg>aTg	p.K293M	ROBO3_ENST00000538940.1_Missense_Mutation_p.K271M	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	293	Ig-like C2-type 3.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.K293M(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CGCTGGCGCAAGGAGGATGGG	0.577																																						uc001qbc.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(877-879)AAG>ATG		roundabout, axon guidance receptor, homolog 3							51.0	51.0	51.0					11																	124740172		1959	4139	6098	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124740172A>T	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.878A>T	11.37:g.124740172A>T	ENSP00000380903:p.Lys293Met						p.K293M	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	5	1070	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	293			Ig-like C2-type 3.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000397801.1	37	c.878A>T	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	A	18.62	3.663198	0.67700	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.37584	1.19;1.19	4.92	4.92	0.64577	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38436	N	0.001699	T	0.66896	0.2836	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74651	-0.3594	10	0.87932	D	0	.	10.1719	0.42915	0.9183:0.0:0.0817:0.0	.	293	Q96MS0	ROBO3_HUMAN	M	293;271	ENSP00000380903:K293M;ENSP00000441797:K271M	ENSP00000380903:K293M	K	+	2	0	ROBO3	124245382	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.978000	0.70501	1.980000	0.57719	0.379000	0.24179	AAG		PASS	0.577	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		9	17	9	17	---	---	---	---
CHEK1	1111	broad.mit.edu	37	11	125499319	125499319	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr11:125499319G>T	ENST00000534070.1	+	5	643	c.388G>T	c.(388-390)Gat>Tat	p.D130Y	CHEK1_ENST00000428830.2_Missense_Mutation_p.D130Y|CHEK1_ENST00000427383.2_Missense_Mutation_p.D146Y|CHEK1_ENST00000278916.3_Missense_Mutation_p.D130Y|CHEK1_ENST00000524737.1_Missense_Mutation_p.D130Y|CHEK1_ENST00000438015.1_Missense_Mutation_p.D130Y|CHEK1_ENST00000544373.1_Missense_Mutation_p.D130Y|CHEK1_ENST00000532449.1_3'UTR	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	130	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)	p.D130Y(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		AACTCACAGGGATATTAAACC	0.289								Other conserved DNA damage response genes																														uc009zbo.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|lung(2)|skin(1)	6						c.(388-390)GAT>TAT	Other_conserved_DNA_damage_response_genes	checkpoint kinase 1							89.0	94.0	92.0					11																	125499319		2201	4299	6500	SO:0001583	missense	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125499319G>T	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.388G>T	11.37:g.125499319G>T	ENSP00000435371:p.Asp130Tyr					CHEK1_uc010sbh.1_Missense_Mutation_p.D146Y|CHEK1_uc010sbi.1_Missense_Mutation_p.D130Y|CHEK1_uc001qcf.3_Missense_Mutation_p.D130Y|CHEK1_uc009zbp.2_Missense_Mutation_p.D130Y|CHEK1_uc001qcg.3_Missense_Mutation_p.D130Y|CHEK1_uc009zbq.2_Missense_Mutation_p.D130Y|CHEK1_uc001qci.1_RNA	p.D130Y	NM_001114122	NP_001107594	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	5	1280	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	130	D->A: Abolishes kinase activity.		Protein kinase.	Proton acceptor.	A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	c.388G>T	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399200	0.83120	.	.	ENSG00000149554	ENST00000438015;ENST00000525396;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000527013;ENST00000526937;ENST00000534070;ENST00000524737;ENST00000532669;ENST00000278916	D;D;D;D;D;D;D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16	5.14	4.23	0.50019	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98112	0.9377	H	0.99074	4.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98561	1.0641	10	0.87932	D	0	-18.2091	12.8759	0.57989	0.0805:0.0:0.9195:0.0	.	130;146;130;130	F5H7S4;E7EPP6;B5BTY6;O14757	.;.;.;CHK1_HUMAN	Y	130;130;146;130;130;130;130;130;130;51;130	ENSP00000388648:D130Y;ENSP00000434141:D130Y;ENSP00000391090:D146Y;ENSP00000412504:D130Y;ENSP00000442317:D130Y;ENSP00000431525:D130Y;ENSP00000431815:D130Y;ENSP00000435371:D130Y;ENSP00000432890:D130Y;ENSP00000434646:D51Y;ENSP00000278916:D130Y	ENSP00000278916:D130Y	D	+	1	0	CHEK1	125004529	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.537000	0.82033	1.318000	0.45170	0.586000	0.80456	GAT		PASS	0.289	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		19	22	19	22	---	---	---	---
B4GALNT3	283358	broad.mit.edu	37	12	659049	659049	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr12:659049G>A	ENST00000266383.5	+	10	981	c.968G>A	c.(967-969)cGg>cAg	p.R323Q		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	323					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.R323Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GACATGCTTCGGCCTGACCCC	0.642																																						uc001qii.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(967-969)CGG>CAG		beta							47.0	44.0	45.0					12																	659049		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:659049G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.968G>A	12.37:g.659049G>A	ENSP00000266383:p.Arg323Gln					B4GALNT3_uc001qij.1_Missense_Mutation_p.R225Q|B4GALNT3_uc001qik.1_5'Flank	p.R323Q	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		10	968	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		323			Lumenal (Potential).		Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.968G>A	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.254057	0.39896	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.73258	-0.73;-0.73	5.62	0.632	0.17705	.	0.238996	0.37809	N	0.001925	T	0.56746	0.2006	L	0.49126	1.545	0.26776	N	0.969701	B;B	0.33379	0.41;0.016	B;B	0.17098	0.017;0.007	T	0.50575	-0.8812	10	0.54805	T	0.06	-17.8493	10.0032	0.41942	0.5599:0.0:0.4401:0.0	.	225;323	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	Q	323;225	ENSP00000266383:R323Q;ENSP00000322953:R225Q	ENSP00000266383:R323Q	R	+	2	0	B4GALNT3	529310	0.992000	0.36948	0.839000	0.33178	0.335000	0.28730	0.582000	0.23834	0.066000	0.16515	0.655000	0.94253	CGG		PASS	0.642	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		7	16	7	16	---	---	---	---
CRACR2A	84766	broad.mit.edu	37	12	3788200	3788200	+	Silent	SNP	G	G	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr12:3788200G>C	ENST00000252322.1	-	6	873	c.405C>G	c.(403-405)cgC>cgG	p.R135R	EFCAB4B_ENST00000444507.1_Silent_p.R135R|EFCAB4B_ENST00000440314.2_Silent_p.R135R	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		135					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R135R(2)		breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCTCTTCATGGCGCTGGGCCA	0.557																																						uc001qmj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(403-405)CGC>CGG		EF-hand calcium binding domain 4B isoform c							176.0	143.0	154.0					12																	3788200		2203	4300	6503	SO:0001819	synonymous_variant	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3788200G>C																												ENST00000252322.1:c.405C>G	12.37:g.3788200G>C						EFCAB4B_uc010sen.1_Silent_p.R135R|EFCAB4B_uc010seo.1_Silent_p.R135R	p.R135R	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		6	977	-			135					B4E1X0|B9EK63	Silent	SNP	ENST00000252322.1	37	c.405C>G	CCDS8522.1																																																																																				PASS	0.557	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			23	89	23	89	---	---	---	---
CD163L1	283316	broad.mit.edu	37	12	7527189	7527189	+	Silent	SNP	C	C	T	rs201656623		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr12:7527189C>T	ENST00000313599.3	-	13	3315	c.3258G>A	c.(3256-3258)acG>acA	p.T1086T	CD163L1_ENST00000416109.2_Silent_p.T1096T|CD163L1_ENST00000396630.1_Silent_p.T1086T|CD163L1_ENST00000544331.1_5'Flank			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1086	SRCR 10. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.T1086T(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GAGCAGAGACCGTGGCATTGA	0.617											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.002					uc001qsy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(3256-3258)ACG>ACA		scavenger receptor cysteine-rich type 1		C		1,4405	2.1+/-5.4	0,1,2202	90.0	82.0	84.0		3258	-5.0	0.0	12		84	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CD163L1	NM_174941.4		0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308		1086/1454	7527189	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7527189C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3258G>A	12.37:g.7527189C>T			OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	642	CD163L1_uc010sge.1_Silent_p.T1096T	p.T1086T	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			13	3284	-			1086			SRCR 10.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.3258G>A	CCDS8577.1																																																																																				PASS	0.617	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		13	47	13	47	---	---	---	---
C12orf40	283461	broad.mit.edu	37	12	40076850	40076850	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr12:40076850A>G	ENST00000324616.5	+	8	1278	c.1124A>G	c.(1123-1125)aAg>aGg	p.K375R	C12orf40_ENST00000398716.1_Missense_Mutation_p.K298R|C12orf40_ENST00000405531.3_Missense_Mutation_p.K375R	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	375								p.K375R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CAGCCAAACAAGAAGTATCAG	0.328																																						uc001rmc.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(1123-1125)AAG>AGG		hypothetical protein LOC283461							41.0	39.0	40.0					12																	40076850		1816	4060	5876	SO:0001583	missense	283461							g.chr12:40076850A>G	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1124A>G	12.37:g.40076850A>G	ENSP00000317671:p.Lys375Arg					C12orf40_uc009zjv.1_RNA	p.K375R	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			8	1291	+			375					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.1124A>G	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	A	1.237	-0.622383	0.03636	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.46063	0.88;0.89	5.14	-1.56	0.08532	.	0.886667	0.09717	N	0.764976	T	0.22044	0.0531	N	0.20986	0.625	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.20739	-1.0266	10	0.27785	T	0.31	.	1.8502	0.03167	0.3943:0.138:0.3333:0.1344	.	375	Q86WS4	CL040_HUMAN	R	375;298;375	ENSP00000383897:K375R;ENSP00000317671:K375R	ENSP00000317671:K375R	K	+	2	0	C12orf40	38363117	0.001000	0.12720	0.000000	0.03702	0.025000	0.11179	0.422000	0.21296	-0.335000	0.08451	0.482000	0.46254	AAG		PASS	0.328	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		3	24	3	24	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43822570	43822570	+	Silent	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr12:43822570G>T	ENST00000389420.3	-	25	3521	c.3522C>A	c.(3520-3522)gcC>gcA	p.A1174A	ADAMTS20_ENST00000395541.2_Silent_p.A292A|ADAMTS20_ENST00000553158.1_Silent_p.A1174A	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1174	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A1174A(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTACATAGCGGGCTTGAGTAC	0.433																																						uc010skx.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(3520-3522)GCC>GCA		a disintegrin-like and metalloprotease with							110.0	105.0	107.0					12																	43822570		2203	4300	6503	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43822570G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3522C>A	12.37:g.43822570G>T						ADAMTS20_uc001rno.1_Silent_p.A292A|ADAMTS20_uc001rnp.1_Silent_p.A328A	p.A1174A	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	25	3522	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1174			TSP type-1 7.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.3522C>A	CCDS31778.2																																																																																				PASS	0.433	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		25	33	25	33	---	---	---	---
KRT72	140807	broad.mit.edu	37	12	52992868	52992868	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr12:52992868A>G	ENST00000537672.2	-	2	465	c.455T>C	c.(454-456)gTg>gCg	p.V152A	KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000293745.2_Missense_Mutation_p.V152A|KRT72_ENST00000354310.4_Missense_Mutation_p.V152A|RP11-641A6.2_ENST00000551089.1_RNA	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	152	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.V152A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GGTCTCTAGCACCTGATTCTG	0.552																																						uc001sar.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(454-456)GTG>GCG		keratin 72 isoform 1							97.0	88.0	91.0					12																	52992868		2203	4300	6503	SO:0001583	missense	140807					keratin filament	structural molecule activity	g.chr12:52992868A>G	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.455T>C	12.37:g.52992868A>G	ENSP00000441160:p.Val152Ala					KRT72_uc001saq.2_Missense_Mutation_p.V152A|KRT72_uc010sns.1_Missense_Mutation_p.V152A|KRT72_uc010snt.1_5'UTR	p.V152A	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	2	541	-			152			Coil 1A.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.455T>C	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.712031	0.89112	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310	T;T;T	0.74737	-0.87;-0.87;-0.87	5.25	5.25	0.73442	Filament (1);	0.000000	0.46145	D	0.000314	D	0.82848	0.5126	M	0.75150	2.29	0.80722	D	1	D;D	0.59357	0.985;0.985	P;P	0.60068	0.868;0.868	D	0.84961	0.0877	10	0.87932	D	0	.	11.8483	0.52397	0.9283:0.0:0.0717:0.0	.	152;152	B4DEI8;Q14CN4	.;K2C72_HUMAN	A	152	ENSP00000441160:V152A;ENSP00000293745:V152A;ENSP00000346269:V152A	ENSP00000293745:V152A	V	-	2	0	KRT72	51279135	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.284000	0.95882	2.289000	0.77006	0.459000	0.35465	GTG		PASS	0.552	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		21	39	21	39	---	---	---	---
CALCOCO1	57658	broad.mit.edu	37	12	54115397	54115397	+	Silent	SNP	C	C	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr12:54115397C>G	ENST00000550804.1	-	6	672	c.612G>C	c.(610-612)ggG>ggC	p.G204G	CALCOCO1_ENST00000262059.4_Silent_p.G204G|CALCOCO1_ENST00000547885.1_5'Flank|CALCOCO1_ENST00000430117.2_Silent_p.G171G|CALCOCO1_ENST00000548263.1_Silent_p.G204G			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	204					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)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.G204G(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						ACCGGGAAATCCCCTGAAATT	0.542																																						uc001sef.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(610-612)GGG>GGC		coiled-coil transcriptional coactivator isoform							225.0	221.0	222.0					12																	54115397		2203	4300	6503	SO:0001819	synonymous_variant	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54115397C>G	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.612G>C	12.37:g.54115397C>G						CALCOCO1_uc010som.1_Silent_p.G171G|CALCOCO1_uc010son.1_Silent_p.G81G|CALCOCO1_uc001seh.2_Silent_p.G204G|CALCOCO1_uc009znd.2_Silent_p.G204G|CALCOCO1_uc001seg.2_Silent_p.G81G|CALCOCO1_uc010soo.1_Silent_p.G197G	p.G204G	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN			6	756	-			204			Potential.		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Silent	SNP	ENST00000550804.1	37	c.612G>C	CCDS8864.1																																																																																				PASS	0.542	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		88	178	88	178	---	---	---	---
TMTC2	160335	broad.mit.edu	37	12	83526007	83526007	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr12:83526007A>T	ENST00000321196.3	+	12	3057	c.2350A>T	c.(2350-2352)Aac>Tac	p.N784Y	TMTC2_ENST00000549919.1_Missense_Mutation_p.N778Y	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	784					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.N784Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TGCTTTGATGAACCTGGGAGC	0.493																																						uc001szt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2350-2352)AAC>TAC		transmembrane and tetratricopeptide repeat							96.0	86.0	89.0					12																	83526007		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83526007A>T	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2350A>T	12.37:g.83526007A>T	ENSP00000322300:p.Asn784Tyr					TMTC2_uc010suk.1_Missense_Mutation_p.N539Y	p.N784Y	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			12	2782	+			784			TPR 10.		B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.2350A>T	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.821422	0.50633	.	.	ENSG00000179104	ENST00000321196;ENST00000549919;ENST00000546590	T;T	0.69561	-0.41;-0.41	5.48	5.48	0.80851	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.87156	0.6107	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90532	0.4496	10	0.54805	T	0.06	-17.2493	14.738	0.69430	1.0:0.0:0.0:0.0	.	784	Q8N394	TMTC2_HUMAN	Y	784;778;539	ENSP00000322300:N784Y;ENSP00000447609:N778Y	ENSP00000322300:N784Y	N	+	1	0	TMTC2	82050138	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	9.279000	0.95777	2.086000	0.62901	0.482000	0.46254	AAC		PASS	0.493	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		14	19	14	19	---	---	---	---
HCFC2	29915	broad.mit.edu	37	12	104496843	104496843	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr12:104496843A>T	ENST00000229330.4	+	15	2275	c.2171A>T	c.(2170-2172)aAt>aTt	p.N724I	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	724	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.N724I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATACAAGATAATCCAAGTCAA	0.408																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	uc001tkj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2170-2172)AAT>ATT		host cell factor C2							133.0	127.0	129.0					12																	104496843		2203	4300	6503	SO:0001583	missense	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104496843A>T	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.2171A>T	12.37:g.104496843A>T	ENSP00000229330:p.Asn724Ile					HCFC2_uc009zul.2_RNA	p.N724I	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN			15	2274	+			724			Fibronectin type-III 3.		B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	c.2171A>T	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613833	0.46631	.	.	ENSG00000111727	ENST00000229330	T	0.01887	4.58	5.9	5.9	0.94986	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.198286	0.44285	D	0.000465	T	0.03520	0.0101	L	0.39898	1.24	0.33093	D	0.538142	B	0.32101	0.356	B	0.36567	0.228	T	0.15636	-1.0430	10	0.62326	D	0.03	-25.8197	12.2117	0.54383	0.858:0.142:0.0:0.0	.	724	Q9Y5Z7	HCFC2_HUMAN	I	724	ENSP00000229330:N724I	ENSP00000229330:N724I	N	+	2	0	HCFC2	103020973	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.343000	0.52167	2.257000	0.74773	0.528000	0.53228	AAT		PASS	0.408	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		33	63	33	63	---	---	---	---
WDR66	144406	broad.mit.edu	37	12	122395069	122395069	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr12:122395069G>C	ENST00000288912.4	+	11	2479	c.1625G>C	c.(1624-1626)gGc>gCc	p.G542A	WDR66_ENST00000397454.2_Missense_Mutation_p.G542A	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	542							calcium ion binding (GO:0005509)	p.G542A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TTGAAACTGGGCGCCATAAGA	0.423																																					Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1624-1626)GGC>GCC		WD repeat domain 66							127.0	119.0	121.0					12																	122395069		1852	4107	5959	SO:0001583	missense	144406						calcium ion binding	g.chr12:122395069G>C	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.1625G>C	12.37:g.122395069G>C	ENSP00000288912:p.Gly542Ala						p.G542A	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	11	1767	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		542					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.1625G>C	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	8.207	0.799403	0.16397	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.24538	1.85;1.85	5.4	5.4	0.78164	WD40 repeat-like-containing domain (1);	0.327925	0.37761	N	0.001943	T	0.22666	0.0547	N	0.22421	0.69	0.09310	N	0.999999	B	0.28636	0.218	B	0.32149	0.141	T	0.15896	-1.0421	10	0.39692	T	0.17	.	18.7777	0.91918	0.0:0.0:1.0:0.0	.	542	Q8TBY9	WDR66_HUMAN	A	542	ENSP00000288912:G542A;ENSP00000380595:G542A	ENSP00000288912:G542A	G	+	2	0	WDR66	120879452	1.000000	0.71417	0.019000	0.16419	0.015000	0.08874	5.883000	0.69721	2.535000	0.85469	0.585000	0.79938	GGC		PASS	0.423	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		29	62	29	62	---	---	---	---
ZCCHC8	55596	broad.mit.edu	37	12	122966142	122966142	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr12:122966142C>G	ENST00000336229.4	-	10	1075	c.945G>C	c.(943-945)caG>caC	p.Q315H	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.Q77H|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.Q77H	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	315					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q315H(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GGTACCCTAGCTGGCGCATCC	0.433																																						uc001ucn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(943-945)CAG>CAC		zinc finger, CCHC domain containing 8							94.0	93.0	93.0					12																	122966142		1829	4090	5919	SO:0001583	missense	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122966142C>G	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.945G>C	12.37:g.122966142C>G	ENSP00000337313:p.Gln315His					ZCCHC8_uc001ucm.2_Missense_Mutation_p.Q77H|ZCCHC8_uc009zxp.2_Missense_Mutation_p.Q77H|ZCCHC8_uc009zxq.2_Missense_Mutation_p.Q77H	p.Q315H	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	10	1076	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		315					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37	c.945G>C		.	.	.	.	.	.	.	.	.	.	C	21.9	4.211391	0.79240	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000544054;ENST00000536663	T;T;T	0.48201	0.84;0.84;0.82	5.47	4.57	0.56435	PSP, proline-rich (2);	0.161101	0.56097	D	0.000030	T	0.58680	0.2139	L	0.40543	1.245	0.40478	D	0.980419	D	0.76494	0.999	D	0.74348	0.983	T	0.60291	-0.7292	10	0.52906	T	0.07	-19.7719	14.5175	0.67827	0.0:0.9284:0.0:0.0716	.	315	Q6NZY4	ZCHC8_HUMAN	H	77;77;315;77;77	ENSP00000441423:Q77H;ENSP00000438993:Q77H;ENSP00000337313:Q315H	ENSP00000337313:Q315H	Q	-	3	2	ZCCHC8	121532095	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.730000	0.38125	2.573000	0.86826	0.455000	0.32223	CAG		PASS	0.433	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		43	72	43	72	---	---	---	---
EIF2B1	1967	broad.mit.edu	37	12	124110982	124110982	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr12:124110982C>T	ENST00000424014.2	-	6	749	c.541G>A	c.(541-543)Gct>Act	p.A181T	EIF2B1_ENST00000537073.1_3'UTR|EIF2B1_ENST00000539951.1_Missense_Mutation_p.A168T	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	181					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)	p.A181T(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		CCGACAGCAGCATCTAGCACC	0.498																																						uc001ufm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(541-543)GCT>ACT		eukaryotic translation initiation factor 2B,							132.0	112.0	119.0					12																	124110982		2203	4300	6503	SO:0001583	missense	1967				cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	g.chr12:124110982C>T	X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.541G>A	12.37:g.124110982C>T	ENSP00000416250:p.Ala181Thr					EIF2B1_uc001ufn.2_Missense_Mutation_p.A179T	p.A181T	NM_001414	NP_001405	Q14232	EI2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)	6	684	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		181					A6NLY9|B4DGX0|Q3SXP4	Missense_Mutation	SNP	ENST00000424014.2	37	c.541G>A	CCDS31924.1	.	.	.	.	.	.	.	.	.	.	C	34	5.296289	0.95574	.	.	ENSG00000111361	ENST00000424014;ENST00000228958;ENST00000539951	D;D;D	0.94232	-3.38;-3.05;-3.05	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.95211	0.8447	L	0.56124	1.755	0.80722	D	1	D;P	0.67145	0.996;0.676	P;B	0.60609	0.877;0.204	D	0.94557	0.7759	10	0.44086	T	0.13	-18.0168	19.2495	0.93917	0.0:1.0:0.0:0.0	.	168;181	F5H0D0;Q14232	.;EI2BA_HUMAN	T	181;179;168	ENSP00000416250:A181T;ENSP00000228958:A179T;ENSP00000438060:A168T	ENSP00000228958:A179T	A	-	1	0	EIF2B1	122676935	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.779000	0.85648	2.609000	0.88269	0.563000	0.77884	GCT		PASS	0.498	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414		10	18	10	18	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129559299	129559299	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr12:129559299A>C	ENST00000422113.2	-	9	2747	c.2421T>G	c.(2419-2421)agT>agG	p.S807R	TMEM132D_ENST00000389441.4_Missense_Mutation_p.S345R	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	807					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.S807R(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTCTGCTGTCACTGGTGTTGG	0.498																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2419-2421)AGT>AGG		transmembrane protein 132D precursor							176.0	141.0	153.0					12																	129559299		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129559299A>C	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2421T>G	12.37:g.129559299A>C	ENSP00000408581:p.Ser807Arg					TMEM132D_uc001uia.2_Missense_Mutation_p.S345R	p.S807R	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2749	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	807			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2421T>G	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	A	2.662	-0.279452	0.05642	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.14022	2.54;2.54	4.2	-6.89	0.01660	.	1.170060	0.06220	N	0.686678	T	0.22205	0.0535	L	0.47716	1.5	0.21105	N	0.999786	B;D	0.64830	0.184;0.994	B;P	0.59221	0.101;0.854	T	0.35375	-0.9791	9	.	.	.	-18.4457	12.4388	0.55614	0.6683:0.0:0.3317:0.0	.	807;345	Q14C87;Q14C87-2	T132D_HUMAN;.	R	345;807	ENSP00000374092:S345R;ENSP00000408581:S807R	.	S	-	3	2	TMEM132D	128125252	0.000000	0.05858	0.016000	0.15963	0.275000	0.26752	-3.417000	0.00478	-1.278000	0.02408	-0.624000	0.04008	AGT		PASS	0.498	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		27	69	27	69	---	---	---	---
ZNF10	7556	broad.mit.edu	37	12	133732712	133732712	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr12:133732712G>A	ENST00000248211.6	+	5	1102	c.880G>A	c.(880-882)Gag>Aag	p.E294K	ZNF10_ENST00000426665.2_Missense_Mutation_p.E294K|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Missense_Mutation_p.E160K|CTD-2140B24.4_ENST00000540096.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E294K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AAAACCCTATGAGTGTAAAGA	0.413																																						uc009zzb.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)|skin(1)	3						c.(880-882)GAG>AAG		zinc finger protein 10							70.0	77.0	74.0					12																	133732712		2203	4300	6503	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133732712G>A	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.880G>A	12.37:g.133732712G>A	ENSP00000248211:p.Glu294Lys					ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.E294K	p.E294K	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	1327	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	294			C2H2-type 3.		B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.880G>A	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046331	0.36085	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000402932	T;T;T	0.35605	1.3;1.3;3.28	3.83	1.96	0.26148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.343884	0.21323	N	0.076436	T	0.09642	0.0237	N	0.01188	-0.97	0.20307	N	0.999913	B	0.10296	0.003	B	0.14023	0.01	T	0.24368	-1.0162	9	.	.	.	.	2.5838	0.04825	0.3019:0.0:0.4791:0.219	.	294	P21506	ZNF10_HUMAN	K	294;294;160	ENSP00000248211:E294K;ENSP00000393814:E294K;ENSP00000384893:E160K	.	E	+	1	0	ZNF10	132242785	0.000000	0.05858	0.995000	0.50966	0.995000	0.86356	-0.271000	0.08572	0.956000	0.37904	0.591000	0.81541	GAG		PASS	0.413	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		22	52	22	52	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32813884	32813884	+	Missense_Mutation	SNP	C	C	G	rs542229219		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr13:32813884C>G	ENST00000380250.3	+	46	7049	c.6553C>G	c.(6553-6555)Ctt>Gtt	p.L2185V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2185						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.L2185V(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACTTTCAAATCTTGCACATGT	0.373																																						uc001utx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(6553-6555)CTT>GTT		furry homolog							71.0	67.0	68.0					13																	32813884		1858	4093	5951	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32813884C>G	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6553C>G	13.37:g.32813884C>G	ENSP00000369600:p.Leu2185Val					FRY_uc010tdw.1_RNA	p.L2185V	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	46	7049	+		Lung SC(185;0.0271)	2185					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.6553C>G	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160907	0.78226	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.52754	0.65	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.69513	0.3119	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65228	-0.6219	10	0.44086	T	0.13	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	2185	Q5TBA9	FRY_HUMAN	V	2185;1022	ENSP00000369600:L2185V	ENSP00000369600:L2185V	L	+	1	0	FRY	31711884	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.056000	0.57448	2.885000	0.99019	0.655000	0.94253	CTT		PASS	0.373	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		12	15	12	15	---	---	---	---
N4BP2L2	10443	broad.mit.edu	37	13	33110057	33110057	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr13:33110057C>A	ENST00000267068.3	-	2	1272	c.1108G>T	c.(1108-1110)Gaa>Taa	p.E370*	N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Nonsense_Mutation_p.E370*|N4BP2L2_ENST00000399396.3_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	370					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.E370*(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CAGCATCTTTCTCTGACTTCA	0.388																																						uc001uuk.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1108-1110)GAA>TAA		phosphonoformate immuno-associated protein 5							150.0	141.0	144.0					13																	33110057		2203	4300	6503	SO:0001587	stop_gained	10443							g.chr13:33110057C>A	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.1108G>T	13.37:g.33110057C>A	ENSP00000267068:p.Glu370*					N4BP2L2_uc010abe.1_Intron|N4BP2L2_uc010tdz.1_Intron|N4BP2L2_uc001uul.1_Nonsense_Mutation_p.E370*|N4BP2L2_uc001uum.2_5'Flank	p.E370*	NM_014887	NP_055702	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	2	1286	-		Lung SC(185;0.0262)	370					A3KME8	Nonsense_Mutation	SNP	ENST00000267068.3	37	c.1108G>T	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625351	0.87560	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	.	.	.	5.33	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-18.2214	14.1586	0.65432	0.0:0.8502:0.1498:0.0	.	.	.	.	X	370	.	ENSP00000267068:E370X	E	-	1	0	N4BP2L2	32008057	0.916000	0.31088	0.022000	0.16811	0.660000	0.38997	1.648000	0.37271	1.214000	0.43395	0.650000	0.86243	GAA		PASS	0.388	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887		24	62	24	62	---	---	---	---
KIAA0226L	80183	broad.mit.edu	37	13	46946524	46946524	+	Silent	SNP	C	C	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr13:46946524C>A	ENST00000429979.1	-	3	691	c.87G>T	c.(85-87)tcG>tcT	p.S29S	KIAA0226L_ENST00000378784.4_Intron|KIAA0226L_ENST00000409879.2_Intron|RNU2-6P_ENST00000411404.1_RNA|KIAA0226L_ENST00000378797.2_Silent_p.S29S|KIAA0226L_ENST00000389908.3_Silent_p.S29S|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378787.3_Silent_p.S29S|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000378781.3_Silent_p.S29S|KIAA0226L_ENST00000480935.1_Intron	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	29								p.S29S(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GGAGTCTGGGCGAACCATCAA	0.522																																						uc010acl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(85-87)TCG>TCT		hypothetical protein LOC80183							61.0	50.0	54.0					13																	46946524		2203	4300	6503	SO:0001819	synonymous_variant	80183							g.chr13:46946524C>A	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.87G>T	13.37:g.46946524C>A						C13orf18_uc001vbf.3_Intron|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_Intron|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Silent_p.S29S|C13orf18_uc001vbh.3_Silent_p.S29S|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Silent_p.S29S|C13orf18_uc010tga.1_Intron	p.S29S	NM_025113	NP_079389	Q9H714	CM018_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)	3	692	-		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	29					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Silent	SNP	ENST00000429979.1	37	c.87G>T	CCDS31970.2																																																																																				PASS	0.522	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		3	8	3	8	---	---	---	---
INTS6	26512	broad.mit.edu	37	13	52026179	52026179	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr13:52026179C>T	ENST00000311234.4	-	2	596	c.124G>A	c.(124-126)Gac>Aac	p.D42N	INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000598905.1_RNA|INTS6_ENST00000442263.3_Missense_Mutation_p.D42N|INTS6-AS1_ENST00000594959.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6_ENST00000420668.2_Missense_Mutation_p.D42N|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6_ENST00000463928.1_Missense_Mutation_p.D42N|INTS6-AS1_ENST00000593429.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6_ENST00000398119.2_Missense_Mutation_p.D29N|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6_ENST00000491723.1_5'UTR|INTS6_ENST00000425000.1_5'UTR	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	42	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.D42N(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		CTGGCAGGGTCCCGGGCACGG	0.667																																						uc001vfk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(124-126)GAC>AAC		integrator complex subunit 6 isoform a							76.0	59.0	65.0					13																	52026179		2203	4300	6503	SO:0001583	missense	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:52026179C>T	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.124G>A	13.37:g.52026179C>T	ENSP00000310260:p.Asp42Asn					INTS6_uc001vfj.2_Missense_Mutation_p.D29N|INTS6_uc001vfl.2_5'UTR|INTS6_uc001vfm.2_Missense_Mutation_p.D42N|uc001vfn.2_5'Flank	p.D42N	NM_012141	NP_036273	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	2	738	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	42			VWFA.		Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	c.124G>A	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	c	18.05	3.536299	0.65085	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000420668;ENST00000485178;ENST00000483288;ENST00000442263	.	.	.	2.59	2.59	0.31030	von Willebrand factor, type A (3);	0.000000	0.85682	U	0.000000	T	0.61173	0.2326	M	0.77406	2.37	0.52099	D	0.999948	B;B	0.26195	0.144;0.004	B;B	0.26969	0.075;0.061	T	0.64110	-0.6484	9	0.40728	T	0.16	1.9597	12.1033	0.53796	0.0:1.0:0.0:0.0	.	42;42	Q9UL03-2;Q9UL03	.;INT6_HUMAN	N	42;29;42;29;29;42	.	ENSP00000310260:D42N	D	-	1	0	INTS6	50924180	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.772000	0.55325	1.457000	0.47850	0.457000	0.33378	GAC		PASS	0.667	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		4	14	4	14	---	---	---	---
DACH1	1602	broad.mit.edu	37	13	72053374	72053374	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr13:72053374C>G	ENST00000359684.2	-	9	1958	c.1959G>C	c.(1957-1959)aaG>aaC	p.K653N	DACH1_ENST00000354591.4_Missense_Mutation_p.K399N|DACH1_ENST00000313174.7_Missense_Mutation_p.K453N|DACH1_ENST00000305425.4_Missense_Mutation_p.K601N			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	653	DACHbox-C.|Interaction with SIN3A. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)	p.K601N(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AAAAATCCATCTTCAGCTCAG	0.388																																						uc010thn.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1795-1797)AAG>AAC		dachshund homolog 1 isoform a							110.0	104.0	106.0					13																	72053374		1800	4072	5872	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72053374C>G	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1959G>C	13.37:g.72053374C>G	ENSP00000352712:p.Lys653Asn					DACH1_uc010tho.1_Missense_Mutation_p.K451N|DACH1_uc010thp.1_Missense_Mutation_p.K397N	p.K599N	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	9	2220	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	651			DACHbox-C.|Potential.|Interaction with SIN3A (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.1797G>C		.	.	.	.	.	.	.	.	.	.	C	24.0	4.478137	0.84747	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.40756	1.09;1.14;1.16;1.02	5.83	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.64148	0.2572	M	0.79693	2.465	0.32194	N	0.57872	D;D;P	0.89917	1.0;0.997;0.92	D;D;P	0.83275	0.996;0.995;0.826	T	0.71849	-0.4468	10	0.59425	D	0.04	-15.4157	11.6252	0.51139	0.0:0.8652:0.0:0.1348	.	397;451;599	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	N	601;453;399;653;653	ENSP00000304994:K601N;ENSP00000318506:K453N;ENSP00000346604:K399N;ENSP00000352712:K653N	ENSP00000304994:K601N	K	-	3	2	DACH1	70951375	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.113000	0.50376	2.770000	0.95276	0.655000	0.94253	AAG		PASS	0.388	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		37	44	37	44	---	---	---	---
POTEG	404785	broad.mit.edu	37	14	19553590	19553590	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr14:19553590G>T	ENST00000409832.3	+	1	226	c.174G>T	c.(172-174)agG>agT	p.R58S		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	58								p.R58S(2)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACACTCAGGAGCAAGATGG	0.612																																						uc001vuz.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(172-174)AGG>AGT		POTE ankyrin domain family, member G							116.0	161.0	146.0					14																	19553590		2198	4286	6484	SO:0001583	missense	404785							g.chr14:19553590G>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.174G>T	14.37:g.19553590G>T	ENSP00000386971:p.Arg58Ser					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.R58S	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	226	+			58					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.174G>T	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	10.19	1.283011	0.23392	.	.	ENSG00000222036	ENST00000409832	T	0.39229	1.09	.	.	.	.	.	.	.	.	T	0.55481	0.1923	L	0.61218	1.895	0.09310	N	1	D	0.64830	0.994	D	0.75020	0.985	T	0.42258	-0.9462	7	0.87932	D	0	.	.	.	.	.	58	Q6S5H5	POTEG_HUMAN	S	58	ENSP00000386971:R58S	ENSP00000386971:R58S	R	+	3	2	POTEG	18623590	0.001000	0.12720	0.011000	0.14972	0.011000	0.07611	-0.334000	0.07883	0.162000	0.19483	0.165000	0.16767	AGG		PASS	0.612	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		33	232	33	232	---	---	---	---
RNASE10	338879	broad.mit.edu	37	14	20979274	20979274	+	Missense_Mutation	SNP	G	G	T	rs552585456		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr14:20979274G>T	ENST00000328444.5	+	1	663	c.644G>T	c.(643-645)gGa>gTa	p.G215V	RNASE10_ENST00000430083.1_Missense_Mutation_p.G243V	NM_001012975.1	NP_001012993.1	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	215					epithelial cell morphogenesis (GO:0003382)|heterotypic cell-cell adhesion (GO:0034113)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of sperm motility (GO:1902093)|regulation of fertilization (GO:0080154)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.G215V(1)		endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		TTACCAACTGGACAATGAAGC	0.378																																						uc010tlj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(643-645)GGA>GTA		ribonuclease, RNase A family, 10 (non-active)							34.0	34.0	34.0					14																	20979274		2202	4300	6502	SO:0001583	missense	338879					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:20979274G>T		CCDS32035.1	14q11.1	2004-11-16				ENSG00000182545		"""Ribonucleases, RNase A"""	19275	protein-coding gene	gene with protein product						12920233	Standard	XM_005267584		Approved	RNASE9	uc010tlj.2	Q5GAN6		ENST00000328444.5:c.644G>T	14.37:g.20979274G>T	ENSP00000333358:p.Gly215Val					RNASE10_uc001vxp.2_Missense_Mutation_p.G243V	p.G215V	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)	1	644	+	all_cancers(95;0.00123)		215					A2RUQ3|B4DKY4	Missense_Mutation	SNP	ENST00000328444.5	37	c.644G>T	CCDS32035.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370920	0.24771	.	.	ENSG00000182545	ENST00000430083;ENST00000328444	T;T	0.26518	1.73;1.86	4.39	-0.215	0.13157	.	2.731100	0.01740	N	0.029326	T	0.16896	0.0406	N	0.24115	0.695	0.09310	N	0.999996	B;P	0.39862	0.44;0.692	B;B	0.38683	0.128;0.279	T	0.09100	-1.0690	10	0.56958	D	0.05	-12.022	0.6326	0.00797	0.229:0.1534:0.3758:0.2417	.	215;243	Q5GAN6;B4DKY4	RNS10_HUMAN;.	V	243;215	ENSP00000392996:G243V;ENSP00000333358:G215V	ENSP00000333358:G215V	G	+	2	0	RNASE10	20049114	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	0.187000	0.16998	-0.148000	0.11234	0.655000	0.94253	GGA		PASS	0.378	RNASE10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411088.1	XM_292225		8	6	8	6	---	---	---	---
MIA2	117153	broad.mit.edu	37	14	39722083	39722083	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr14:39722083G>A	ENST00000280082.3	+	5	1898	c.1699G>A	c.(1699-1701)Gac>Aac	p.D567N	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	0					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)		p.D567N(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GGTGGAGATAGACAGATCTGT	0.373																																						uc001wux.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1699-1701)GAC>AAC		melanoma inhibitory activity 2							92.0	98.0	96.0					14																	39722083		2203	4300	6503	SO:0001583	missense	117153					extracellular region		g.chr14:39722083G>A	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.1699G>A	14.37:g.39722083G>A	ENSP00000280082:p.Asp567Asn						p.D567N	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)	5	1893	+	Hepatocellular(127;0.213)		Error:Variant_position_missing_in_Q96PC5_after_alignment					A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	c.1699G>A	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402157	0.62288	.	.	ENSG00000150526	ENST00000280082	T	0.61040	0.14	5.29	3.31	0.37934	.	0.438594	0.16799	N	0.199094	T	0.63070	0.2480	.	.	.	0.21147	N	0.999778	D	0.55385	0.971	P	0.55455	0.776	T	0.52503	-0.8567	8	.	.	.	.	8.7271	0.34476	0.0:0.1265:0.5931:0.2804	.	567	Q96PC5-2	.	N	567	ENSP00000280082:D567N	.	D	+	1	0	MIA2	38791834	0.012000	0.17670	0.031000	0.17742	0.095000	0.18619	0.483000	0.22292	1.289000	0.44618	0.585000	0.79938	GAC		PASS	0.373	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		17	17	17	17	---	---	---	---
NIN	51199	broad.mit.edu	37	14	51190336	51190336	+	IGR	SNP	C	C	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr14:51190336C>T	ENST00000382041.3	-	0	6496				RP11-248J18.3_ENST00000602615.1_RNA|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000530997.2_Missense_Mutation_p.A2083T|NIN_ENST00000245441.5_Missense_Mutation_p.A2083T	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)						centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.A2083T(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AACAACTGGGCATTTTCAACA	0.428			T	PDGFRB	MPD																																	uc001wyi.2				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(6247-6249)GCC>ACC		ninein isoform 2							140.0	132.0	135.0					14																	51190336		1900	4114	6014	SO:0001628	intergenic_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51190336C>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569		14.37:g.51190336C>T						NIN_uc001wyj.2_RNA	p.A2083T	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN			31	6438	-	all_epithelial(31;0.00244)|Breast(41;0.127)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.6247G>A	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.074686|4.074686	0.76415|0.76415	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149|ENST00000530997	T|.	0.47177|.	0.85|.	5.92|5.92	4.86|4.86	0.63082|0.63082	.|.	0.258488|.	0.38164|.	N|.	0.001787|.	T|T	0.66177|0.66177	0.2763|0.2763	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	P|.	0.40970|.	0.734|.	B|.	0.35470|.	0.203|.	T|T	0.64266|0.64266	-0.6448|-0.6448	10|5	0.33940|.	T|.	0.23|.	-8.9191|-8.9191	11.4189|11.4189	0.49969|0.49969	0.0:0.8491:0.0:0.1509|0.0:0.8491:0.0:0.1509	.|.	2083|.	Q8N4C6-7|.	.|.	T|Y	2083;2066|1573	ENSP00000245441:A2083T|.	ENSP00000245441:A2083T|.	A|C	-|-	1|2	0|0	NIN|NIN	50260086|50260086	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.261000|1.261000	0.32980|0.32980	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	GCC|TGC		PASS	0.428	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		23	16	23	16	---	---	---	---
NIPA2	81614	broad.mit.edu	37	15	23006622	23006622	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr15:23006622A>G	ENST00000337451.3	-	8	1294	c.682T>C	c.(682-684)Tgt>Cgt	p.C228R	NIPA2_ENST00000359727.4_Missense_Mutation_p.C209R|NIPA2_ENST00000398014.2_Missense_Mutation_p.C228R|NIPA2_ENST00000398013.3_Missense_Mutation_p.C228R|NIPA2_ENST00000539711.2_Missense_Mutation_p.C209R	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	228						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)	p.C209R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GTGCTCACACAGACGATGAGG	0.463																																						uc001yux.2																			1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(682-684)TGT>CGT		non imprinted in Prader-Willi/Angelman syndrome							93.0	105.0	101.0					15																	23006622		2203	4300	6503	SO:0001583	missense	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23006622A>G	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.682T>C	15.37:g.23006622A>G	ENSP00000337618:p.Cys228Arg					NIPA2_uc001yuy.2_Missense_Mutation_p.C228R|NIPA2_uc001yuz.2_Missense_Mutation_p.C228R|NIPA2_uc001yva.2_Missense_Mutation_p.C209R|NIPA2_uc001yvb.2_Missense_Mutation_p.C228R|NIPA2_uc010ayb.2_Missense_Mutation_p.C209R	p.C228R	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	8	1295	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	228			Helical; (Potential).		F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	ENST00000337451.3	37	c.682T>C	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.719135	0.48622	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	D;D;D	0.91124	-2.79;-2.79;-2.79	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.96090	0.8726	M	0.91663	3.23	0.80722	D	1	D;D	0.63046	0.99;0.992	D;D	0.69654	0.965;0.949	D	0.96908	0.9665	10	0.72032	D	0.01	-18.0933	15.7833	0.78281	1.0:0.0:0.0:0.0	.	209;228	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	R	228;228;209;228;209	ENSP00000337618:C228R;ENSP00000381096:C228R;ENSP00000352762:C209R	ENSP00000337618:C228R	C	-	1	0	NIPA2	20558063	1.000000	0.71417	0.993000	0.49108	0.120000	0.20174	9.210000	0.95106	2.187000	0.69744	0.533000	0.62120	TGT		PASS	0.463	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		44	32	44	32	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33835852	33835852	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr15:33835852C>G	ENST00000389232.4	+	8	746	c.676C>G	c.(676-678)Ctt>Gtt	p.L226V	RYR3_ENST00000415757.3_Missense_Mutation_p.L226V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	226	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.L226V(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGTAGTACGTCTTTTCCATGG	0.398																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(676-678)CTT>GTT		ryanodine receptor 3							269.0	249.0	255.0					15																	33835852		1906	4138	6044	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33835852C>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.676C>G	15.37:g.33835852C>G	ENSP00000373884:p.Leu226Val					RYR3_uc010bar.2_Missense_Mutation_p.L226V	p.L226V	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	8	746	+		all_lung(180;7.18e-09)	226			MIR 3.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.676C>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786404	0.49997	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.95518	-3.73;-3.73	5.25	4.26	0.50523	MIR motif (2);MIR (2);	0.150659	0.46145	D	0.000319	D	0.93128	0.7812	M	0.75615	2.305	0.41156	D	0.986065	B;B	0.28128	0.144;0.201	B;B	0.28385	0.082;0.089	D	0.90808	0.4699	10	0.87932	D	0	.	4.5958	0.12329	0.0:0.7253:0.0:0.2747	.	226;226	Q15413-2;Q15413	.;RYR3_HUMAN	V	226	ENSP00000373884:L226V;ENSP00000399610:L226V	ENSP00000354735:L226V	L	+	1	0	RYR3	31623144	0.998000	0.40836	0.998000	0.56505	0.488000	0.33401	2.166000	0.42406	2.732000	0.93576	0.563000	0.77884	CTT		PASS	0.398	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			55	34	55	34	---	---	---	---
PGBD4	161779	broad.mit.edu	37	15	34396179	34396179	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr15:34396179A>G	ENST00000397766.2	+	1	1906	c.1447A>G	c.(1447-1449)Ata>Gta	p.I483V	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	483								p.I483V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GATGAGCCATATAAACTTCAG	0.443																																						uc001zho.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1447-1449)ATA>GTA		piggyBac transposable element derived 4							68.0	61.0	63.0					15																	34396179		2201	4298	6499	SO:0001583	missense	161779							g.chr15:34396179A>G	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1447A>G	15.37:g.34396179A>G	ENSP00000380872:p.Ile483Val					C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	p.I483V	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	1906	+		all_lung(180;1.76e-08)	483					A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	c.1447A>G	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	a	4.328	0.060286	0.08339	.	.	ENSG00000182405	ENST00000397766	T	0.16457	2.34	1.02	-2.04	0.07343	.	4.645640	0.02245	N	0.066170	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	B	0.19706	0.038	B	0.19148	0.024	T	0.16958	-1.0385	10	0.13853	T	0.58	.	2.0901	0.03655	0.535:0.0:0.2087:0.2563	.	483	Q96DM1	PGBD4_HUMAN	V	483	ENSP00000380872:I483V	ENSP00000380872:I483V	I	+	1	0	PGBD4	32183471	0.580000	0.26733	0.003000	0.11579	0.695000	0.40330	-0.488000	0.06497	-0.785000	0.04522	0.255000	0.18592	ATA		PASS	0.443	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			15	4	15	4	---	---	---	---
DPH6	89978	broad.mit.edu	37	15	35703036	35703036	+	Splice_Site	SNP	C	C	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr15:35703036C>G	ENST00000256538.4	-	6	593	c.567G>C	c.(565-567)gaG>gaC	p.E189D	DPH6_ENST00000560386.1_5'UTR	NM_080650.3	NP_542381.1	Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6	189					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)	p.E189D(1)									AAATTCTTACCTCTATGAGAT	0.303																																						uc001zja.2																			1	Substitution - Missense(1)		lung(1)		0						c.(565-567)GAG>GAC		ATP binding domain 4 isoform 1							121.0	128.0	126.0					15																	35703036		2201	4296	6497	SO:0001630	splice_region_variant	89978							g.chr15:35703036C>G		CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"""diphthine--ammonia ligase"""		"""ATP binding domain 4"", ""DPH6 homolog (S. cerevisiae)"""	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.567+1G>C	15.37:g.35703036C>G						ATPBD4_uc001ziz.2_Missense_Mutation_p.E173D	p.E189D	NM_080650	NP_542381	Q7L8W6	ATBD4_HUMAN		all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)	6	629	-		all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07)	189					B3KWG1|Q96HJ6	Missense_Mutation	SNP	ENST00000256538.4	37	c.567G>C	CCDS10043.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672246	0.29693	.	.	ENSG00000134146	ENST00000256538	T	0.42131	0.98	5.31	5.31	0.75309	Domain of unknown function DUF71, ATP-binding domain (2);	0.162994	0.53938	D	0.000041	T	0.28863	0.0716	N	0.25825	0.765	0.80722	D	1	B	0.12013	0.005	B	0.15052	0.012	T	0.06899	-1.0801	9	.	.	.	-23.5721	11.7074	0.51605	0.0:0.9196:0.0:0.0804	.	189	Q7L8W6	ATBD4_HUMAN	D	189	ENSP00000256538:E189D	.	E	-	3	2	ATPBD4	33490328	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	3.218000	0.51192	2.764000	0.94973	0.573000	0.79308	GAG		PASS	0.303	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251973.1	NM_080650	Missense_Mutation	43	43	43	43	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86213042	86213042	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr15:86213042C>G	ENST00000394518.2	+	14	5177	c.5082C>G	c.(5080-5082)atC>atG	p.I1694M	AKAP13_ENST00000361243.2_Missense_Mutation_p.I1698M|RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1694					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.I1698M(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TAATGACAATCAGCCATCCTG	0.338																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(5080-5082)ATC>ATG		A-kinase anchor protein 13 isoform 2							134.0	122.0	126.0					15																	86213042		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86213042C>G	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5082C>G	15.37:g.86213042C>G	ENSP00000378026:p.Ile1694Met					AKAP13_uc002blt.1_Missense_Mutation_p.I1676M|AKAP13_uc002blu.1_Missense_Mutation_p.I1698M|AKAP13_uc010bnf.1_Missense_Mutation_p.I316M|AKAP13_uc002blw.1_Missense_Mutation_p.I161M|AKAP13_uc010bne.1_Missense_Mutation_p.I347M	p.I1694M	NM_007200	NP_009131	Q12802	AKP13_HUMAN			14	5252	+			1694					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.5082C>G	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244844	0.59103	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000452008	T;T	0.21361	2.01;2.4	5.86	4.76	0.60689	.	.	.	.	.	T	0.36386	0.0965	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.05649	-1.0872	9	0.87932	D	0	.	7.9338	0.29918	0.0:0.7942:0.0:0.2058	.	1676;1694;1698	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	M	1698;1694;1697;1675;316	ENSP00000354718:I1698M;ENSP00000378026:I1694M	ENSP00000354718:I1698M	I	+	3	3	AKAP13	84014046	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.992000	0.29667	2.774000	0.95407	0.585000	0.79938	ATC		PASS	0.338	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		18	15	18	15	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20576154	20576154	+	Missense_Mutation	SNP	C	C	T	rs564472730	byFrequency	TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr16:20576154C>T	ENST00000329697.6	-	2	182	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R5Q|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R5Q|ACSM2B_ENST00000414188.2_Missense_Mutation_p.R5Q	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	5					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.R5Q(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTGAACTTTTCGCAGCCAATG	0.498													C|||	3	0.000599042	0.0	0.0014	5008	,	,		18567	0.0		0.001	False		,,,				2504	0.001					uc002dhj.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(13-15)CGA>CAA		acyl-CoA synthetase medium-chain family member							62.0	61.0	61.0					16																	20576154		2201	4300	6501	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20576154C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.14G>A	16.37:g.20576154C>T	ENSP00000327453:p.Arg5Gln					ACSM2B_uc002dhk.3_Missense_Mutation_p.R5Q|ACSM2B_uc010bwf.1_Missense_Mutation_p.R5Q	p.R5Q	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			3	224	-			5					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.14G>A	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	8.229	0.804295	0.16467	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.42900	0.96;2.28	3.27	-0.763	0.11030	.	2.661960	0.01665	N	0.025335	T	0.19087	0.0458	N	0.08118	0	0.09310	N	1	P;P	0.41784	0.762;0.762	B;B	0.32149	0.141;0.141	T	0.13629	-1.0502	10	0.24483	T	0.36	1.0797	5.481	0.16723	0.2292:0.3839:0.3869:0.0	.	5;5	A8K051;Q68CK6	.;ACS2B_HUMAN	Q	5	ENSP00000327453:R5Q;ENSP00000390378:R5Q	ENSP00000327453:R5Q	R	-	2	0	ACSM2B	20483655	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	-1.772000	0.01787	0.081000	0.16988	0.505000	0.49811	CGA		PASS	0.498	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		4	28	4	28	---	---	---	---
CYLD	1540	broad.mit.edu	37	16	50826618	50826618	+	Splice_Site	SNP	T	T	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr16:50826618T>A	ENST00000427738.3	+	15	2555		c.e15+2		CYLD_ENST00000540145.1_Splice_Site|RP11-327F22.4_ENST00000575917.1_RNA|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000566206.1_Splice_Site|CYLD_ENST00000398568.2_Splice_Site|CYLD_ENST00000568704.2_Splice_Site|CYLD_ENST00000564326.1_Splice_Site|CYLD_ENST00000569418.1_Splice_Site|CYLD_ENST00000311559.9_Splice_Site			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)						cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.?(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TTGAAGACAGTAAGTATGAGA	0.308			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													uc002egp.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		1	Unknown(1)		lung(1)	skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.e16+2		ubiquitin carboxyl-terminal hydrolase CYLD							41.0	36.0	38.0					16																	50826618		1772	4032	5804	SO:0001630	splice_region_variant	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50826618T>A	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2350+2T>A	16.37:g.50826618T>A						CYLD_uc010cbs.1_Splice_Site_p.T781_splice|CYLD_uc002egq.1_Splice_Site_p.T781_splice|CYLD_uc002egr.1_Splice_Site_p.T781_splice	p.T784_splice	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			16	2765	+		all_cancers(37;0.0156)						O94934|Q7L3N6|Q96EH0|Q9NZX9	Splice_Site	SNP	ENST00000427738.3	37	c.2350_splice	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.241774	0.79912	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9469	0.79802	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYLD	49384119	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.548000	0.82154	2.167000	0.68274	0.455000	0.32223	.		PASS	0.308	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2		Intron	4	9	4	9	---	---	---	---
COQ9	57017	broad.mit.edu	37	16	57486804	57486804	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr16:57486804C>T	ENST00000262507.6	+	3	403	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	COQ9_ENST00000567072.1_Missense_Mutation_p.P112S|COQ9_ENST00000567933.1_Missense_Mutation_p.P112S	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	112					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)		p.P112S(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGAGTTTGTGCCCGCCCACGG	0.592																																						uc002elq.2																			2	Substitution - Missense(2)		lung(1)|prostate(1)	breast(1)	1						c.(334-336)CCC>TCC		coenzyme Q9 homolog precursor							107.0	93.0	98.0					16																	57486804		2198	4300	6498	SO:0001583	missense	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57486804C>T	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.334C>T	16.37:g.57486804C>T	ENSP00000262507:p.Pro112Ser					COQ9_uc002elp.1_Missense_Mutation_p.P112S|COQ9_uc010vhn.1_Missense_Mutation_p.P112S|COQ9_uc010vho.1_Missense_Mutation_p.P112S|COQ9_uc010vhp.1_Missense_Mutation_p.P112S|COQ9_uc002elr.2_Missense_Mutation_p.P112S	p.P112S	NM_020312	NP_064708	O75208	COQ9_HUMAN			3	350	+			112					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Missense_Mutation	SNP	ENST00000262507.6	37	c.334C>T	CCDS32459.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697474	0.88830	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	M	0.69185	2.1	0.58432	D	0.999995	D;P;D;P;D	0.89917	1.0;0.811;1.0;0.816;1.0	D;P;D;B;D	0.97110	0.999;0.554;0.999;0.288;1.0	T	0.79902	-0.1607	9	0.59425	D	0.04	-10.8459	17.3209	0.87235	0.0:1.0:0.0:0.0	.	112;112;112;112;112	B4E0U3;B4DIV2;B4DEE3;O75208;O75208-2	.;.;.;COQ9_HUMAN;.	S	112	.	ENSP00000262507:P112S	P	+	1	0	COQ9	56044305	1.000000	0.71417	0.999000	0.59377	0.693000	0.40251	7.783000	0.85696	2.325000	0.78763	0.650000	0.86243	CCC		PASS	0.592	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		3	40	3	40	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654|rs587780066	byFrequency	TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr17:7579358C>A	ENST00000269305.4	-	4	518	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000420246.2_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R110L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654). {ECO:0000269|PubMed:17224074}.|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAAGCCCAGACGGAAACCGTA	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		71	Substitution - Missense(47)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(3)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	p.R110L(24)|p.R110P(8)|p.0?(7)|p.R110fs*13(5)|p.R110C(4)|p.G59fs*23(3)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)|p.R110fs*18(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.R110S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)	upper_aerodigestive_tract(15)|lung(13)|breast(8)|large_intestine(5)|urinary_tract(5)|liver(4)|bone(4)|soft_tissue(3)|oesophagus(3)|ovary(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)|autonomic_ganglia(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM984590	TP53	M	rs11540654	c.(328-330)CGT>CTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							63.0	60.0	61.0					17																	7579358		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579358C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.329G>T	17.37:g.7579358C>A	ENSP00000269305:p.Arg110Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R110L|TP53_uc002gih.2_Missense_Mutation_p.R110L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.R110L|TP53_uc010cni.1_Missense_Mutation_p.R110L|TP53_uc002gij.2_Missense_Mutation_p.R110L|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.R71L|TP53_uc010cnk.1_Missense_Mutation_p.R125L	p.R110L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	523	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	110		R -> G (in a sporadic cancer; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).||Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.329G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091694	0.55968	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.75	-0.964	0.10326	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.808524	0.11806	N	0.527643	D	0.99242	0.9736	L	0.52759	1.655	0.09310	N	1	P;P;P;B;B;B;P	0.51537	0.946;0.941;0.459;0.347;0.373;0.362;0.782	P;P;B;B;B;P;B	0.57152	0.523;0.814;0.269;0.211;0.405;0.49;0.337	D	0.99938	1.1378	10	0.66056	D	0.02	-0.2466	4.9119	0.13825	0.0:0.3943:0.154:0.4517	rs11540654;rs11540654	71;110;110;110;110;110;110	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	110	ENSP00000410739:R110L;ENSP00000352610:R110L;ENSP00000269305:R110L;ENSP00000398846:R110L;ENSP00000391127:R110L;ENSP00000391478:R110L;ENSP00000424104:R110L;ENSP00000426252:R110L	ENSP00000269305:R110L	R	-	2	0	TP53	7520083	0.012000	0.17670	0.014000	0.15608	0.952000	0.60782	0.563000	0.23547	-0.185000	0.10550	0.655000	0.94253	CGT		PASS	0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	16	13	16	---	---	---	---
CCDC42	146849	broad.mit.edu	37	17	8638528	8638528	+	Silent	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr17:8638528G>T	ENST00000293845.3	-	6	985	c.759C>A	c.(757-759)acC>acA	p.T253T	CCDC42_ENST00000539522.2_Silent_p.T179T	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	253								p.T253T(1)		kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CAAGCAGGAGGGTCTTCTTGG	0.567																																						uc002gln.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(757-759)ACC>ACA		coiled-coil domain containing 42 isoform 1							149.0	119.0	129.0					17																	8638528		2203	4300	6503	SO:0001819	synonymous_variant	146849							g.chr17:8638528G>T	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.759C>A	17.37:g.8638528G>T						CCDC42_uc002glo.2_Silent_p.T179T	p.T253T	NM_144681	NP_653282	Q96M95	CCD42_HUMAN			6	986	-			253					Q8N6Q0	Silent	SNP	ENST00000293845.3	37	c.759C>A	CCDS11145.1																																																																																				PASS	0.567	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		11	10	11	10	---	---	---	---
FZD2	2535	broad.mit.edu	37	17	42635359	42635359	+	Silent	SNP	C	C	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr17:42635359C>A	ENST00000315323.3	+	1	435	c.303C>A	c.(301-303)acC>acA	p.T101T		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	101	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.T101T(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCGTGTGCACCGTGCTGGAAC	0.632																																						uc002igx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(301-303)ACC>ACA		frizzled 2 precursor							87.0	86.0	86.0					17																	42635359		2203	4300	6503	SO:0001819	synonymous_variant	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42635359C>A	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.303C>A	17.37:g.42635359C>A							p.T101T	NM_001466	NP_001457	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	435	+		Prostate(33;0.0181)	101			FZ.|Extracellular (Potential).		Q0VG82	Silent	SNP	ENST00000315323.3	37	c.303C>A	CCDS11484.1																																																																																				PASS	0.632	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		25	52	25	52	---	---	---	---
DBF4B	80174	broad.mit.edu	37	17	42809611	42809611	+	Silent	SNP	A	A	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr17:42809611A>G	ENST00000315005.3	+	6	672	c.534A>G	c.(532-534)ggA>ggG	p.G178G	DBF4B_ENST00000526915.1_Intron|DBF4B_ENST00000393547.2_Silent_p.G178G|DBF4B_ENST00000398338.3_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	178					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.G178G(1)		kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				GCTCTTGGGGAGTGAGGATTC	0.552																																						uc002ihf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(532-534)GGA>GGG		DBF4 homolog B isoform 1							96.0	71.0	80.0					17																	42809611		2203	4300	6503	SO:0001819	synonymous_variant	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42809611A>G	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.534A>G	17.37:g.42809611A>G						DBF4B_uc002ihd.1_3'UTR|DBF4B_uc010wjb.1_Intron|DBF4B_uc002ihe.2_Intron|DBF4B_uc010wjc.1_Silent_p.G162G|DBF4B_uc002ihg.2_3'UTR	p.G178G	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN			6	747	+		Prostate(33;0.0322)	178					D3DX56|Q8TEX0|Q96B19|Q9H912	Silent	SNP	ENST00000315005.3	37	c.534A>G	CCDS11485.1																																																																																				PASS	0.552	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		10	18	10	18	---	---	---	---
MPO	4353	broad.mit.edu	37	17	56349033	56349033	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr17:56349033C>A	ENST00000225275.3	-	11	2189	c.2013G>T	c.(2011-2013)aaG>aaT	p.K671N	MPO_ENST00000340482.3_Missense_Mutation_p.K703N	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	671					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.K671N(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CATCCCGGAGCTTCCTGAACT	0.632																																						uc002ivu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(2011-2013)AAG>AAT		myeloperoxidase	Cefdinir(DB00535)						43.0	42.0	42.0					17																	56349033		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56349033C>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.2013G>T	17.37:g.56349033C>A	ENSP00000225275:p.Lys671Asn						p.K671N	NM_000250	NP_000241	P05164	PERM_HUMAN			11	2190	-			671					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.2013G>T	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132712	0.37630	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.69435	-0.4;-0.4	5.44	2.21	0.28008	.	0.436743	0.28209	N	0.016197	T	0.44414	0.1292	N	0.12443	0.215	0.46874	D	0.999235	B	0.21071	0.051	B	0.25987	0.065	T	0.33317	-0.9873	10	0.39692	T	0.17	-24.31	6.9105	0.24333	0.111:0.6258:0.1844:0.0789	.	671	P05164	PERM_HUMAN	N	703;671	ENSP00000344419:K703N;ENSP00000225275:K671N	ENSP00000225275:K671N	K	-	3	2	MPO	53704032	0.901000	0.30685	1.000000	0.80357	0.988000	0.76386	0.038000	0.13862	1.306000	0.44926	0.563000	0.77884	AAG		PASS	0.632	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			13	13	13	13	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65924580	65924580	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr17:65924580T>G	ENST00000321892.4	+	18	6300	c.6239T>G	c.(6238-6240)aTa>aGa	p.I2080R	BPTF_ENST00000306378.6_Missense_Mutation_p.I1954R|BPTF_ENST00000335221.5_Missense_Mutation_p.I2080R|BPTF_ENST00000424123.3_Missense_Mutation_p.I1941R			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2080					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I1954R(1)|p.I2080R(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTGGCCCCCATAAGTGGCTCA	0.458																																						uc002jgf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(5860-5862)ATA>AGA		bromodomain PHD finger transcription factor							83.0	72.0	76.0					17																	65924580		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65924580T>G	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.6239T>G	17.37:g.65924580T>G	ENSP00000315454:p.Ile2080Arg					BPTF_uc002jge.2_Missense_Mutation_p.I2080R	p.I1954R	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		16	5922	+	all_cancers(12;6e-11)		2080					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.5861T>G		.	.	.	.	.	.	.	.	.	.	T	11.43	1.636417	0.29068	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.12984	2.63;2.63;2.63	5.94	5.94	0.96194	.	.	.	.	.	T	0.10809	0.0264	N	0.14661	0.345	0.18873	N	0.999983	B;B	0.22346	0.068;0.005	B;B	0.18263	0.021;0.004	T	0.24693	-1.0153	9	0.72032	D	0.01	-2.8263	14.9696	0.71223	0.0:0.0:0.0:1.0	.	1954;2080	Q12830-2;Q12830-4	.;.	R	1954;2080;2080	ENSP00000307208:I1954R;ENSP00000334351:I2080R;ENSP00000315454:I2080R	ENSP00000307208:I1954R	I	+	2	0	BPTF	63355042	0.961000	0.32948	0.670000	0.29842	0.992000	0.81027	4.212000	0.58514	2.274000	0.75844	0.519000	0.50382	ATA		PASS	0.458	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		5	32	5	32	---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73727361	73727361	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr17:73727361A>G	ENST00000200181.3	+	10	1314	c.1127A>G	c.(1126-1128)gAc>gGc	p.D376G	ITGB4_ENST00000579662.1_Missense_Mutation_p.D376G|ITGB4_ENST00000339591.3_Missense_Mutation_p.D376G|ITGB4_ENST00000449880.2_Missense_Mutation_p.D376G|ITGB4_ENST00000450894.3_Missense_Mutation_p.D376G|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	376					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.D376G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGGCCCTAGACAGCCCCCGA	0.617																																						uc002jpg.2																			1	Substitution - Missense(1)		lung(1)	lung(4)	4						c.(1126-1128)GAC>GGC		integrin beta 4 isoform 1 precursor							63.0	54.0	57.0					17																	73727361		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73727361A>G		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1127A>G	17.37:g.73727361A>G	ENSP00000200181:p.Asp376Gly					ITGB4_uc002jph.2_Missense_Mutation_p.D376G|ITGB4_uc010dgo.2_Missense_Mutation_p.D376G|ITGB4_uc002jpi.3_Missense_Mutation_p.D376G|ITGB4_uc010dgp.1_Missense_Mutation_p.D376G|ITGB4_uc002jpj.2_Missense_Mutation_p.D376G|ITGB4_uc010wsh.1_5'Flank	p.D376G	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		10	1314	+	all_cancers(13;1.5e-07)		376			Extracellular (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.1127A>G	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.727823	0.30593	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.92752	-3.1;-3.1;-3.1	4.97	4.97	0.65823	Integrin beta subunit, N-terminal (2);	0.570671	0.17532	N	0.170858	D	0.88247	0.6385	L	0.31752	0.955	0.20074	N	0.999936	B;B;B;P	0.35174	0.046;0.231;0.273;0.488	B;B;B;B	0.40982	0.041;0.156;0.243;0.345	T	0.81499	-0.0905	10	0.44086	T	0.13	.	10.6061	0.45394	0.8471:0.0:0.0:0.1529	.	376;376;376;376	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	G	292;376;376;376	ENSP00000200181:D376G;ENSP00000344079:D376G;ENSP00000400217:D376G	ENSP00000200181:D376G	D	+	2	0	ITGB4	71238956	0.990000	0.36364	0.993000	0.49108	0.942000	0.58702	2.962000	0.49176	1.860000	0.53959	0.374000	0.22700	GAC		PASS	0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			14	24	14	24	---	---	---	---
WDR45B	56270	broad.mit.edu	37	17	80588802	80588802	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr17:80588802T>A	ENST00000392325.4	-	3	433	c.239A>T	c.(238-240)aAc>aTc	p.N80I	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	80								p.N80I(1)									AGTACCTTTGTTGGGAGGGTA	0.408																																						uc002kfq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(238-240)AAC>ATC		WDR45-like							217.0	209.0	212.0					17																	80588802		2203	4300	6503	SO:0001583	missense	56270				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chr17:80588802T>A	AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"""WD repeat domain containing"""	25072	protein-coding gene	gene with protein product		609226	"""WDR45-like"""	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.239A>T	17.37:g.80588802T>A	ENSP00000376139:p.Asn80Ile					WDR45L_uc002kfr.2_RNA	p.N80I	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)		3	434	-	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	80					O95328|Q2MCP6|Q6IBN2	Missense_Mutation	SNP	ENST00000392325.4	37	c.239A>T	CCDS11815.2	.	.	.	.	.	.	.	.	.	.	T	24.2	4.506941	0.85282	.	.	ENSG00000141580	ENST00000392325;ENST00000539012	T	0.77750	-1.12	4.8	4.8	0.61643	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87577	0.6212	M	0.89287	3.02	0.80722	D	1	D	0.61080	0.989	P	0.59288	0.855	D	0.89134	0.3512	10	0.48119	T	0.1	-10.2611	14.3481	0.66680	0.0:0.0:0.0:1.0	.	80	Q5MNZ6	WIPI3_HUMAN	I	80;52	ENSP00000376139:N80I	ENSP00000376139:N80I	N	-	2	0	WDR45L	78182091	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.398000	0.79919	1.811000	0.52892	0.528000	0.53228	AAC		PASS	0.408	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1	NM_019613		66	116	66	116	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6971894	6971894	+	Silent	SNP	A	A	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr18:6971894A>G	ENST00000389658.3	-	48	6954	c.6861T>C	c.(6859-6861)taT>taC	p.Y2287Y	RN7SL537P_ENST00000584392.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2287	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.Y2287Y(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCCTTTCAATATAGTTCCATA	0.443																																						uc002knm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(6859-6861)TAT>TAC		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						144.0	120.0	128.0					18																	6971894		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6971894A>G	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6861T>C	18.37:g.6971894A>G						LAMA1_uc010wzj.1_Silent_p.Y1763Y	p.Y2287Y	NM_005559	NP_005550	P25391	LAMA1_HUMAN			48	6955	-		Colorectal(10;0.172)	2287			Laminin G-like 1.			Silent	SNP	ENST00000389658.3	37	c.6861T>C	CCDS32787.1																																																																																				PASS	0.443	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		37	42	37	42	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6971974	6971974	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr18:6971974G>C	ENST00000389658.3	-	48	6874	c.6781C>G	c.(6781-6783)Cct>Gct	p.P2261A	RN7SL537P_ENST00000584392.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2261	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.P2261A(2)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TTCACAGCAGGAGATTTCTAA	0.413																																						uc002knm.2																			2	Substitution - Missense(2)		prostate(1)|lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(6781-6783)CCT>GCT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						71.0	68.0	69.0					18																	6971974		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6971974G>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6781C>G	18.37:g.6971974G>C	ENSP00000374309:p.Pro2261Ala					LAMA1_uc010wzj.1_Missense_Mutation_p.P1737A	p.P2261A	NM_005559	NP_005550	P25391	LAMA1_HUMAN			48	6875	-		Colorectal(10;0.172)	2261			Laminin G-like 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.6781C>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	2.321	-0.355600	0.05138	.	.	ENSG00000101680	ENST00000389658	T	0.74421	-0.84	5.52	0.595	0.17490	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.290655	0.32785	N	0.005654	T	0.67002	0.2847	M	0.78456	2.415	0.36858	D	0.888268	B	0.15719	0.014	B	0.18871	0.023	T	0.56595	-0.7953	10	0.11182	T	0.66	.	7.5023	0.27524	0.2552:0.111:0.6338:0.0	.	2261	P25391	LAMA1_HUMAN	A	2261	ENSP00000374309:P2261A	ENSP00000374309:P2261A	P	-	1	0	LAMA1	6961974	0.467000	0.25831	0.995000	0.50966	0.990000	0.78478	0.826000	0.27407	0.106000	0.17784	0.643000	0.83706	CCT		PASS	0.413	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		10	44	10	44	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6997882	6997882	+	Splice_Site	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr18:6997882G>T	ENST00000389658.3	-	33	4758	c.4665C>A	c.(4663-4665)tcC>tcA	p.S1555S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1555	Laminin EGF-like 17. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.S1555S(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CATCATCACAGGCTACAAGAC	0.418																																						uc002knm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(4663-4665)TCC>TCA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						163.0	150.0	155.0					18																	6997882		2203	4300	6503	SO:0001630	splice_region_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6997882G>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4664-1C>A	18.37:g.6997882G>T						LAMA1_uc010wzj.1_Silent_p.S1031S	p.S1555S	NM_005559	NP_005550	P25391	LAMA1_HUMAN			33	4759	-		Colorectal(10;0.172)	1555			Laminin EGF-like 17.			Silent	SNP	ENST00000389658.3	37	c.4665C>A	CCDS32787.1																																																																																				PASS	0.418	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	Silent	21	49	21	49	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21399941	21399941	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr18:21399941G>A	ENST00000313654.9	+	19	2525	c.2284G>A	c.(2284-2286)Gcc>Acc	p.A762T	LAMA3_ENST00000399516.3_Missense_Mutation_p.A762T	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	762					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.A762T(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GAGAGGATATGCCCAAATGAC	0.502																																						uc002kuq.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(2284-2286)GCC>ACC		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						103.0	99.0	101.0					18																	21399941		1969	4149	6118	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21399941G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2284G>A	18.37:g.21399941G>A	ENSP00000324532:p.Ala762Thr					LAMA3_uc002kur.2_Missense_Mutation_p.A762T	p.A762T	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			19	2370	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		762					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.2284G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527725	0.64860	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.23754	1.91;1.89	5.71	3.93	0.45458	.	.	.	.	.	T	0.33000	0.0848	M	0.80508	2.5	0.80722	D	1	B;B	0.20671	0.047;0.017	B;B	0.20955	0.032;0.01	T	0.14476	-1.0471	9	0.59425	D	0.04	.	12.4513	0.55679	0.1362:0.0:0.8638:0.0	.	762;762	Q6VU67;Q16787	.;LAMA3_HUMAN	T	762;762;760	ENSP00000324532:A762T;ENSP00000382432:A762T	ENSP00000324532:A762T	A	+	1	0	LAMA3	19653939	1.000000	0.71417	0.994000	0.49952	0.961000	0.63080	5.382000	0.66213	0.768000	0.33290	-0.263000	0.10527	GCC		PASS	0.502	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		6	18	6	18	---	---	---	---
RIT2	6014	broad.mit.edu	37	18	40323598	40323598	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr18:40323598C>A	ENST00000326695.5	-	5	685	c.514G>T	c.(514-516)Gat>Tat	p.D172Y	RIT2_ENST00000589109.1_3'UTR|RIT2_ENST00000590910.1_3'UTR	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	172					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D172Y(1)		endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGAAAAGCATCATCAATACAG	0.418																																						uc002lav.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(514-516)GAT>TAT		Ras-like without CAAX 2							103.0	103.0	103.0					18																	40323598		2203	4300	6503	SO:0001583	missense	6014				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr18:40323598C>A	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.514G>T	18.37:g.40323598C>A	ENSP00000321805:p.Asp172Tyr					RIT2_uc010dnf.2_3'UTR	p.D172Y	NM_002930	NP_002921	Q99578	RIT2_HUMAN			5	687	-			172					B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Missense_Mutation	SNP	ENST00000326695.5	37	c.514G>T	CCDS11921.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725552	0.68959	.	.	ENSG00000152214	ENST00000326695	T	0.80909	-1.43	5.41	5.41	0.78517	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000007	D	0.89266	0.6666	M	0.68728	2.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90005	0.4117	10	0.87932	D	0	.	19.199	0.93701	0.0:1.0:0.0:0.0	.	172	Q99578	RIT2_HUMAN	Y	172	ENSP00000321805:D172Y	ENSP00000321805:D172Y	D	-	1	0	RIT2	38577596	1.000000	0.71417	0.998000	0.56505	0.783000	0.44284	5.628000	0.67791	2.551000	0.86045	0.655000	0.94253	GAT		PASS	0.418	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930		18	63	18	63	---	---	---	---
CDH19	28513	broad.mit.edu	37	18	64172254	64172254	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr18:64172254T>C	ENST00000262150.2	-	12	2406	c.2114A>G	c.(2113-2115)gAa>gGa	p.E705G		NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E705G(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AGTATTAGCTTCTTCGAGCTT	0.488																																						uc002lkc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2113-2115)GAA>GGA		cadherin 19, type 2 preproprotein							144.0	138.0	140.0					18																	64172254		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64172254T>C	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.2114A>G	18.37:g.64172254T>C	ENSP00000262150:p.Glu705Gly					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_3'UTR	p.E705G	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			12	2252	-		Esophageal squamous(42;0.0132)	705			Cytoplasmic (Potential).		O15098	Missense_Mutation	SNP	ENST00000262150.2	37	c.2114A>G	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.542509	0.45280	.	.	ENSG00000071991	ENST00000262150	T	0.79352	-1.26	5.19	4.02	0.46733	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.87509	0.6195	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88038	0.2779	10	0.87932	D	0	.	11.2129	0.48808	0.0:0.0726:0.0:0.9274	.	705	Q9H159	CAD19_HUMAN	G	705	ENSP00000262150:E705G	ENSP00000262150:E705G	E	-	2	0	CDH19	62323234	1.000000	0.71417	0.022000	0.16811	0.002000	0.02628	7.489000	0.81451	0.906000	0.36621	-0.290000	0.09829	GAA		PASS	0.488	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		41	57	41	57	---	---	---	---
SOCS6	9306	broad.mit.edu	37	18	67992174	67992174	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr18:67992174G>T	ENST00000397942.3	+	2	586	c.270G>T	c.(268-270)aaG>aaT	p.K90N	SOCS6_ENST00000582322.1_Missense_Mutation_p.K90N	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	90					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)		p.K90N(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CAAAAGGCAAGGCGGGCACAC	0.517																																					Melanoma(84;1024 1361 24382 36583 42651)	uc002lkr.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(268-270)AAG>AAT		suppressor of cytokine signaling 6							73.0	77.0	75.0					18																	67992174		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992174G>T	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.270G>T	18.37:g.67992174G>T	ENSP00000381034:p.Lys90Asn					SOCS6_uc010dqq.2_Missense_Mutation_p.K90N	p.K90N	NM_004232	NP_004223	O14544	SOCS6_HUMAN			2	586	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	90					Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.270G>T	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	G	5.048	0.194501	0.09599	.	.	ENSG00000170677	ENST00000397942	T	0.32988	1.43	5.27	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.46112	0.1376	L	0.54323	1.7	0.52099	D	0.999949	D	0.76494	0.999	D	0.80764	0.994	T	0.36114	-0.9761	10	0.87932	D	0	-17.1633	8.2263	0.31570	0.3054:0.0:0.6946:0.0	.	90	O14544	SOCS6_HUMAN	N	90	ENSP00000381034:K90N	ENSP00000381034:K90N	K	+	3	2	SOCS6	66143154	1.000000	0.71417	0.994000	0.49952	0.017000	0.09413	3.089000	0.50183	0.601000	0.29879	0.561000	0.74099	AAG		PASS	0.517	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			14	27	14	27	---	---	---	---
ATP9B	374868	broad.mit.edu	37	18	77119463	77119463	+	Splice_Site	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr18:77119463G>T	ENST00000426216.2	+	26	3029		c.e26+1		ATP9B_ENST00000307671.7_Splice_Site|ATP9B_ENST00000543761.1_Splice_Site	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B						establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.?(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CCTCACCAAGGTACGGGCCTC	0.537																																						uc002lmx.2																			1	Unknown(1)		lung(1)	ovary(3)	3						c.e26+1		ATPase, class II, type 9B							113.0	82.0	93.0					18																	77119463		2203	4300	6503	SO:0001630	splice_region_variant	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:77119463G>T	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.3012+1G>T	18.37:g.77119463G>T						ATP9B_uc002lmw.1_Splice_Site_p.K1004_splice|ATP9B_uc002lmz.1_Missense_Mutation_p.V699L|ATP9B_uc002lna.2_Splice_Site_p.K30_splice|ATP9B_uc002lnb.1_Splice_Site_p.G103_splice|ATP9B_uc010drb.2_Splice_Site	p.K1004_splice	NM_198531	NP_940933	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	26	3026	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)						O60872|Q08AD8|Q08AD9	Splice_Site	SNP	ENST00000426216.2	37	c.3012_splice	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180749	0.78677	.	.	ENSG00000166377	ENST00000426216;ENST00000359184;ENST00000307671;ENST00000543761	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1085	0.86669	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP9B	75220451	1.000000	0.71417	0.996000	0.52242	0.765000	0.43378	8.947000	0.93000	2.367000	0.80283	0.591000	0.81541	.		PASS	0.537	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531	Intron	5	13	5	13	---	---	---	---
FEM1A	55527	broad.mit.edu	37	19	4792420	4792420	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr19:4792420C>A	ENST00000269856.3	+	1	693	c.554C>A	c.(553-555)aCg>aAg	p.T185K	AC005523.2_ENST00000601192.1_RNA|AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	185					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)	p.T185K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AAGGGCAACACGGCCCTGCAT	0.677																																						uc002mbf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(553-555)ACG>AAG		fem-1 homolog a							13.0	14.0	14.0					19																	4792420		2163	4228	6391	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4792420C>A	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.554C>A	19.37:g.4792420C>A	ENSP00000269856:p.Thr185Lys					uc002mbg.1_RNA	p.T185K	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	693	+		Hepatocellular(1079;0.137)	185			ANK 6.		B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.554C>A	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136963	0.77775	.	.	ENSG00000141965	ENST00000269856	T	0.79352	-1.26	4.85	3.81	0.43845	Ankyrin repeat-containing domain (3);	0.069614	0.56097	U	0.000023	D	0.89223	0.6654	M	0.90425	3.115	0.58432	D	0.999995	D	0.76494	0.999	D	0.80764	0.994	D	0.90892	0.4762	10	0.87932	D	0	-20.228	13.2315	0.59947	0.0:0.9222:0.0:0.0778	.	185	Q9BSK4	FEM1A_HUMAN	K	185	ENSP00000269856:T185K	ENSP00000269856:T185K	T	+	2	0	FEM1A	4743420	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	7.679000	0.84048	1.031000	0.39867	0.455000	0.32223	ACG		PASS	0.677	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			4	18	4	18	---	---	---	---
TNFSF14	8740	broad.mit.edu	37	19	6665114	6665114	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr19:6665114G>T	ENST00000599359.1	-	5	927	c.546C>A	c.(544-546)agC>agA	p.S182R	TNFSF14_ENST00000326176.9_Missense_Mutation_p.S146R|TNFSF14_ENST00000245912.3_Missense_Mutation_p.S146R			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	182					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)	p.S182R(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GTGACTGCTGGCTGACCAACA	0.692																																						uc002mfk.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(544-546)AGC>AGA		tumor necrosis factor ligand superfamily, member							71.0	61.0	64.0					19																	6665114		2203	4299	6502	SO:0001583	missense	8740				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6665114G>T	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.546C>A	19.37:g.6665114G>T	ENSP00000469049:p.Ser182Arg					TNFSF14_uc002mfj.1_Missense_Mutation_p.S146R	p.S182R	NM_003807	NP_003798	O43557	TNF14_HUMAN			5	928	-			182			Extracellular (Potential).		A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.546C>A	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649108	0.29336	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	D	0.94650	-3.48	4.67	1.24	0.21308	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.442058	0.25194	N	0.032430	D	0.95357	0.8493	M	0.71206	2.165	0.27364	N	0.955875	D;D	0.76494	0.999;0.999	D;P	0.63877	0.919;0.868	D	0.89558	0.3804	10	0.49607	T	0.09	-3.6414	8.0086	0.30340	0.3405:0.0:0.6595:0.0	.	182;146	O43557;O43557-2	TNF14_HUMAN;.	R	182;146	ENSP00000326940:S146R	ENSP00000245912:S182R	S	-	3	2	TNFSF14	6616114	0.421000	0.25465	0.903000	0.35520	0.108000	0.19459	0.353000	0.20130	0.070000	0.16634	-0.258000	0.10820	AGC		PASS	0.692	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			18	31	18	31	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9074571	9074571	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr19:9074571C>T	ENST00000397910.4	-	3	13078	c.12875G>A	c.(12874-12876)gGc>gAc	p.G4292D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4294	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.G4292D(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCGGAGGAGCCAAATACTGA	0.517																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(12874-12876)GGC>GAC		mucin 16							115.0	113.0	113.0					19																	9074571		2034	4191	6225	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074571C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12875G>A	19.37:g.9074571C>T	ENSP00000381008:p.Gly4292Asp						p.G4292D	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	13079	-			4294			Thr-rich.|Extracellular (Potential).|Ser-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12875G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.738	-0.054245	0.07362	.	.	ENSG00000181143	ENST00000397910	T	0.21734	1.99	1.98	-3.42	0.04825	.	.	.	.	.	T	0.09992	0.0245	N	0.19112	0.55	.	.	.	B	0.18968	0.032	B	0.18871	0.023	T	0.33803	-0.9854	8	0.87932	D	0	.	0.2845	0.00249	0.1938:0.2663:0.2195:0.3204	.	4292	B5ME49	.	D	4292	ENSP00000381008:G4292D	ENSP00000381008:G4292D	G	-	2	0	MUC16	8935571	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-2.580000	0.00907	-0.838000	0.04218	0.313000	0.20887	GGC		PASS	0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	23	10	23	---	---	---	---
PRKCSH	5589	broad.mit.edu	37	19	11559430	11559430	+	Silent	SNP	G	G	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr19:11559430G>A	ENST00000589838.1	+	13	1251	c.1251G>A	c.(1249-1251)gaG>gaA	p.E417E	PRKCSH_ENST00000252455.2_Silent_p.E417E|PRKCSH_ENST00000412601.1_Silent_p.E414E|PRKCSH_ENST00000591462.1_Silent_p.E414E|PRKCSH_ENST00000592741.1_Silent_p.E424E|PRKCSH_ENST00000587327.1_Silent_p.E414E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	417	PRKCSH.				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.E417E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						AGTGCTACGAGCTCACCACCA	0.612																																						uc002mrt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1249-1251)GAG>GAA		protein kinase C substrate 80K-H isoform 1							89.0	92.0	91.0					19																	11559430		2203	4300	6503	SO:0001819	synonymous_variant	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11559430G>A		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1251G>A	19.37:g.11559430G>A						PRKCSH_uc002mru.2_Silent_p.E414E|PRKCSH_uc010xlz.1_Silent_p.E424E|PRKCSH_uc010dya.2_Silent_p.E199E|PRKCSH_uc010dyb.2_Silent_p.E414E	p.E417E	NM_002743	NP_002734	P14314	GLU2B_HUMAN			14	1587	+			417			PRKCSH.		A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	c.1251G>A	CCDS32911.1																																																																																				PASS	0.612	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			19	37	19	37	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23578143	23578143	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr19:23578143G>T	ENST00000300619.7	-	1	219	c.14C>A	c.(13-15)cCt>cAt	p.P5H	ZNF91_ENST00000397082.2_Missense_Mutation_p.P5H|ZNF91_ENST00000599743.1_Missense_Mutation_p.P5H	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	5					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P5H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAGGCTTCCAGGGGTTCCTGG	0.622																																						uc002nre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(13-15)CCT>CAT		zinc finger protein 91							77.0	78.0	78.0					19																	23578143		2203	4300	6503	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23578143G>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.14C>A	19.37:g.23578143G>T	ENSP00000300619:p.Pro5His					ZNF91_uc010xrj.1_Missense_Mutation_p.P5H	p.P5H	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			1	127	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	5					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.14C>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296136	0.23650	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.06068	3.36;3.35	0.225	0.225	0.15325	.	.	.	.	.	T	0.15132	0.0365	L	0.60845	1.875	0.09310	N	1	D;P	0.67145	0.996;0.697	D;B	0.67231	0.95;0.201	T	0.16837	-1.0389	8	0.31617	T	0.26	.	.	.	.	.	5;5	Q05481-2;Q05481	.;ZNF91_HUMAN	H	5	ENSP00000300619:P5H;ENSP00000380272:P5H	ENSP00000300619:P5H	P	-	2	0	ZNF91	23369983	0.006000	0.16342	0.054000	0.19295	0.055000	0.15305	-0.599000	0.05700	0.300000	0.22699	0.305000	0.20034	CCT		PASS	0.622	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		12	45	12	45	---	---	---	---
ZNF146	7705	broad.mit.edu	37	19	36727458	36727458	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr19:36727458C>G	ENST00000443387.2	+	4	1108	c.116C>G	c.(115-117)aCg>aGg	p.T39R	ZNF146_ENST00000456324.1_Missense_Mutation_p.T39R|ZNF565_ENST00000355114.5_Intron	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	39					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T39R(1)		kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					CATTTTCACACGAGAGAGAAA	0.428																																						uc002odq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(115-117)ACG>AGG		zinc finger protein 146							83.0	84.0	84.0					19																	36727458		2203	4300	6503	SO:0001583	missense	7705				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	g.chr19:36727458C>G	X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"""Zinc fingers, C2H2-type"""	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.116C>G	19.37:g.36727458C>G	ENSP00000392095:p.Thr39Arg					ZNF146_uc010eet.2_Missense_Mutation_p.T39R|ZNF146_uc010eeu.2_Missense_Mutation_p.T39R	p.T39R	NM_007145	NP_009076	Q15072	OZF_HUMAN			4	1639	+	Esophageal squamous(110;0.162)		39					Q2TB94	Missense_Mutation	SNP	ENST00000443387.2	37	c.116C>G	CCDS12492.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281197	0.40394	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	T;T	0.25749	1.78;1.78	4.46	-1.68	0.08212	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.640353	0.13097	N	0.414070	T	0.30230	0.0758	L	0.50333	1.59	0.26182	N	0.979715	P	0.49090	0.919	P	0.50825	0.651	T	0.26883	-1.0090	10	0.87932	D	0	-2.5813	10.1657	0.42879	0.4094:0.504:0.0865:0.0	.	39	Q15072	OZF_HUMAN	R	39	ENSP00000392095:T39R;ENSP00000400391:T39R	ENSP00000392095:T39R	T	+	2	0	ZNF146	41419298	0.050000	0.20438	0.936000	0.37596	0.966000	0.64601	0.747000	0.26290	-0.266000	0.09339	-0.175000	0.13238	ACG		PASS	0.428	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1	NM_007145		15	54	15	54	---	---	---	---
PSG1	5669	broad.mit.edu	37	19	43382112	43382112	+	Missense_Mutation	SNP	T	T	A	rs1058668	byFrequency	TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr19:43382112T>A	ENST00000436291.2	-	2	499	c.383A>T	c.(382-384)gAt>gTt	p.D128V	PSG1_ENST00000244296.2_Missense_Mutation_p.D128V|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595124.1_Missense_Mutation_p.D128V|PSG1_ENST00000403380.3_Missense_Mutation_p.D128V|PSG1_ENST00000595356.1_Missense_Mutation_p.D128V|PSG1_ENST00000312439.6_Missense_Mutation_p.D128V	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	128	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.D128V(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AGTCCCATCATCTCCCTTTAT	0.498																																						uc002ovb.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(382-384)GAT>GTT		pregnancy specific beta-1-glycoprotein 1							359.0	320.0	334.0					19																	43382112		2201	4298	6499	SO:0001583	missense	5669				female pregnancy	extracellular region		g.chr19:43382112T>A		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.383A>T	19.37:g.43382112T>A	ENSP00000413041:p.Asp128Val					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.D128V|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.D128V|PSG1_uc010eio.1_Missense_Mutation_p.D128V|PSG1_uc002oux.1_Missense_Mutation_p.D57V|PSG1_uc002ouy.1_Missense_Mutation_p.D128V|PSG1_uc002ouz.1_Missense_Mutation_p.D128V|PSG1_uc002ova.1_Missense_Mutation_p.D128V|PSG1_uc002ovc.2_Missense_Mutation_p.D128V|PSG1_uc002ovd.1_Missense_Mutation_p.D128V	p.D128V	NM_006905	NP_008836	P11464	PSG1_HUMAN			2	521	-		Prostate(69;0.00682)	128			Ig-like V-type.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.383A>T	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	4.658	0.122309	0.08931	.	.	ENSG00000231924	ENST00000270059;ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	1.64	-3.28	0.05033	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60753	0.2293	L	0.58810	1.83	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.22541	0.071;0.001;0.0;0.003;0.0;0.002;0.012;0.0;0.002	B;B;B;B;B;B;B;B;B	0.35114	0.196;0.011;0.002;0.008;0.001;0.008;0.055;0.015;0.008	T	0.57394	-0.7819	9	0.87932	D	0	.	4.2453	0.10669	0.0:0.1565:0.361:0.4825	.	128;128;128;128;128;128;128;128;128	O75238;P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;O75237;P11464-2	.;.;.;PSG1_HUMAN;.;.;.;.;.	V	128	ENSP00000413041:D128V;ENSP00000385386:D128V;ENSP00000308970:D128V;ENSP00000244296:D128V	ENSP00000244296:D128V	D	-	2	0	PSG1	48073952	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.844000	0.01679	-1.856000	0.01161	-1.160000	0.01791	GAT		PASS	0.498	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			61	161	61	161	---	---	---	---
ZNF221	7638	broad.mit.edu	37	19	44469153	44469153	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr19:44469153G>T	ENST00000251269.5	+	4	461	c.133G>T	c.(133-135)Ggg>Tgg	p.G45W	ZNF221_ENST00000592350.1_Missense_Mutation_p.G45W|ZNF221_ENST00000587682.1_Missense_Mutation_p.G45W	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G45W(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GGAGGAGCTGGGGCTGCTGGA	0.488																																						uc002oxx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(133-135)GGG>TGG		zinc finger protein 221							237.0	233.0	234.0					19																	44469153		2203	4298	6501	SO:0001583	missense	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44469153G>T	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.133G>T	19.37:g.44469153G>T	ENSP00000251269:p.Gly45Trp					ZNF221_uc010ejb.1_Missense_Mutation_p.G45W|ZNF221_uc010xws.1_Missense_Mutation_p.G45W	p.G45W	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN			4	461	+		Prostate(69;0.0352)	45			KRAB.		B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	c.133G>T	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.167416	0.38315	.	.	ENSG00000159905	ENST00000539505;ENST00000251269	T	0.02067	4.47	2.64	-1.05	0.10036	Krueppel-associated box (4);	.	.	.	.	T	0.10165	0.0249	M	0.86651	2.83	0.09310	N	1	D	0.76494	0.999	D	0.74348	0.983	T	0.09975	-1.0650	9	0.62326	D	0.03	.	4.1365	0.10172	0.2654:0.1994:0.5352:0.0	.	45	Q9UK13	ZN221_HUMAN	W	23;45	ENSP00000251269:G45W	ENSP00000251269:G45W	G	+	1	0	ZNF221	49160993	0.579000	0.26725	0.875000	0.34327	0.792000	0.44763	0.649000	0.24843	-0.001000	0.14495	0.462000	0.41574	GGG		PASS	0.488	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			47	91	47	91	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56369053	56369053	+	Silent	SNP	C	C	A	rs149802462	byFrequency	TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr19:56369053C>A	ENST00000301295.6	+	3	716	c.294C>A	c.(292-294)acC>acA	p.T98T	NLRP4_ENST00000346986.5_Silent_p.T98T|NLRP4_ENST00000587891.1_Silent_p.T23T	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	98					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.T98T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACACAAAGACCTATCAAGCTC	0.418													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20983	0.0		0.0	False		,,,				2504	0.0					uc002qmd.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(292-294)ACC>ACA		NLR family, pyrin domain containing 4		C		2,4404	4.2+/-10.8	0,2,2201	88.0	83.0	85.0		294	-7.2	0.0	19	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous	NLRP4	NM_134444.4		0,2,6501	AA,AC,CC		0.0,0.0454,0.0154		98/995	56369053	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56369053C>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.294C>A	19.37:g.56369053C>A						NLRP4_uc002qmf.2_Silent_p.T23T|NLRP4_uc010etf.2_5'UTR	p.T98T	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	716	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	98					Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.294C>A	CCDS12936.1																																																																																				PASS	0.418	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		13	34	13	34	---	---	---	---
CD93	22918	broad.mit.edu	37	20	23065078	23065078	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr20:23065078G>T	ENST00000246006.4	-	1	1899	c.1752C>A	c.(1750-1752)ttC>ttA	p.F584L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	584					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.F584L(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTAGGATGTAGAATAAAAGCA	0.607																																						uc002wsv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(1750-1752)TTC>TTA		CD93 antigen precursor							153.0	147.0	149.0					20																	23065078		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065078G>T	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1752C>A	20.37:g.23065078G>T	ENSP00000246006:p.Phe584Leu						p.F584L	NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN			1	1900	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		584			Helical; (Potential).		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.1752C>A	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948193	0.73787	.	.	ENSG00000125810	ENST00000246006	T	0.79845	-1.31	5.84	1.18	0.20946	.	0.207548	0.33959	N	0.004400	T	0.81088	0.4750	M	0.69823	2.125	0.32712	N	0.511407	D	0.58268	0.982	P	0.48738	0.588	D	0.84533	0.0634	10	0.62326	D	0.03	-30.6724	11.2587	0.49069	0.3681:0.0:0.6319:0.0	.	584	Q9NPY3	C1QR1_HUMAN	L	584	ENSP00000246006:F584L	ENSP00000246006:F584L	F	-	3	2	CD93	23013078	1.000000	0.71417	0.985000	0.45067	0.902000	0.53008	0.689000	0.25437	0.381000	0.24851	0.650000	0.86243	TTC		PASS	0.607	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		32	96	32	96	---	---	---	---
ACSS2	55902	broad.mit.edu	37	20	33508829	33508829	+	Silent	SNP	T	T	C	rs201529980		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr20:33508829T>C	ENST00000360596.2	+	10	1375	c.1164T>C	c.(1162-1164)taT>taC	p.Y388Y	ACSS2_ENST00000336325.4_Silent_p.Y338Y|ACSS2_ENST00000253382.5_Silent_p.Y401Y|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	388					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.Y388Y(1)|p.Y401Y(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TTCCCACATATCCGGACGTGA	0.502																																						uc002xbd.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1162-1164)TAT>TAC		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						181.0	171.0	174.0					20																	33508829		2203	4300	6503	SO:0001819	synonymous_variant	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33508829T>C	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1164T>C	20.37:g.33508829T>C						ACSS2_uc002xbc.2_Silent_p.Y293Y|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Silent_p.Y401Y|ACSS2_uc002xbe.2_Silent_p.Y96Y|ACSS2_uc002xbf.2_Intron	p.Y388Y	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN			10	1285	+			388					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Silent	SNP	ENST00000360596.2	37	c.1164T>C	CCDS13243.1																																																																																				PASS	0.502	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		55	103	55	103	---	---	---	---
TRPC4AP	26133	broad.mit.edu	37	20	33657206	33657206	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr20:33657206G>A	ENST00000252015.2	-	3	396	c.307C>T	c.(307-309)Cct>Tct	p.P103S	TRPC4AP_ENST00000432634.2_Intron|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.P103S			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	103	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.P103S(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GAGAGAAGAGGAGAAATTTCC	0.368																																						uc002xbk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(307-309)CCT>TCT		TRPC4-associated protein isoform a							85.0	87.0	86.0					20																	33657206		2203	4300	6503	SO:0001583	missense	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33657206G>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.307C>T	20.37:g.33657206G>A	ENSP00000252015:p.Pro103Ser					TRPC4AP_uc002xbl.2_Missense_Mutation_p.P103S|TRPC4AP_uc010zur.1_Intron|TRPC4AP_uc002xbm.1_Missense_Mutation_p.P103S	p.P103S	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		3	341	-			103			Interaction with TNFRSF1A (By similarity).		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.307C>T	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217542	0.39201	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000541994	T;T	0.27557	1.66;1.66	5.2	5.2	0.72013	.	0.049734	0.85682	D	0.000000	T	0.17238	0.0414	N	0.04880	-0.145	0.80722	D	1	B;B	0.17038	0.02;0.02	B;B	0.12837	0.008;0.008	T	0.09443	-1.0674	10	0.16420	T	0.52	.	18.0297	0.89279	0.0:0.0:1.0:0.0	.	103;103	E1P5Q0;Q8TEL6	.;TP4AP_HUMAN	S	103;103;88	ENSP00000252015:P103S;ENSP00000400614:P103S	ENSP00000252015:P103S	P	-	1	0	TRPC4AP	33120867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.528000	0.67129	2.868000	0.98415	0.555000	0.69702	CCT		PASS	0.368	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		12	28	12	28	---	---	---	---
TOX2	84969	broad.mit.edu	37	20	42694617	42694617	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr20:42694617C>A	ENST00000358131.5	+	6	1380	c.1172C>A	c.(1171-1173)cCc>cAc	p.P391H	TOX2_ENST00000423191.2_Missense_Mutation_p.P367H|TOX2_ENST00000341197.4_Missense_Mutation_p.P409H|TOX2_ENST00000372999.1_Missense_Mutation_p.P367H|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	391	Pro-rich.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P418H(1)|p.P367H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTGTCACTGCCCCCTCACGCC	0.706																																						uc002xlf.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1171-1173)CCC>CAC		TOX high mobility group box family member 2							27.0	30.0	29.0					20																	42694617		2202	4299	6501	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42694617C>A	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1172C>A	20.37:g.42694617C>A	ENSP00000350849:p.Pro391His					TOX2_uc010ggo.2_Missense_Mutation_p.P409H|TOX2_uc002xle.3_Missense_Mutation_p.P367H|TOX2_uc010ggp.2_Missense_Mutation_p.P367H|TOX2_uc002xlg.2_Intron|TOX2_uc010zwk.1_Missense_Mutation_p.P287H	p.P391H	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1189	+		Myeloproliferative disorder(115;0.00452)	391			Pro-rich.		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.1172C>A	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687010	0.68157	.	.	ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	T;T;T;T;T	0.14893	2.75;2.74;2.74;2.47;2.52	4.15	4.15	0.48705	.	0.621176	0.17976	N	0.155706	T	0.31295	0.0792	L	0.36672	1.1	0.42021	D	0.990984	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;D;P;D	0.77557	0.907;0.937;0.867;0.99	T	0.01781	-1.1275	10	0.46703	T	0.11	.	14.737	0.69422	0.0:1.0:0.0:0.0	.	287;409;391;367	B4DQV8;G3XAC7;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	H	409;367;367;391;287	ENSP00000344724:P409H;ENSP00000390278:P367H;ENSP00000362090:P367H;ENSP00000350849:P391H;ENSP00000396777:P287H	ENSP00000344724:P409H	P	+	2	0	TOX2	42128031	0.996000	0.38824	0.994000	0.49952	0.942000	0.58702	3.702000	0.54800	2.588000	0.87417	0.591000	0.81541	CCC		PASS	0.706	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			8	15	8	15	---	---	---	---
PPP1R3D	5509	broad.mit.edu	37	20	58514346	58514346	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr20:58514346C>T	ENST00000370996.3	-	1	1006	c.641G>A	c.(640-642)cGc>cAc	p.R214H	FAM217B_ENST00000360816.3_5'Flank|FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	214	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)	p.R214H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			GTGGGTACTGCGCCAGCCCGA	0.672																																						uc002ybb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(640-642)CGC>CAC		protein phosphatase 1, regulatory subunit 3D							30.0	29.0	29.0					20																	58514346		2203	4296	6499	SO:0001583	missense	5509				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	g.chr20:58514346C>T	Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9294	protein-coding gene	gene with protein product		603326	"""protein phosphatase 1, regulatory (inhibitor) subunit 3D"""	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.641G>A	20.37:g.58514346C>T	ENSP00000360035:p.Arg214His					C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	p.R214H	NM_006242	NP_006233	O95685	PPR3D_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.12e-09)		1	1007	-	all_lung(29;0.00391)		214			CBM21.		Q6DK02	Missense_Mutation	SNP	ENST00000370996.3	37	c.641G>A	CCDS13483.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139905	0.56936	.	.	ENSG00000132825	ENST00000370996	T	0.64618	-0.11	4.83	3.89	0.44902	Putative phosphatase regulatory subunit (2);	0.271258	0.24973	N	0.034130	T	0.57125	0.2032	M	0.71036	2.16	0.41937	D	0.990595	B	0.28584	0.216	B	0.25405	0.06	T	0.57774	-0.7753	10	0.51188	T	0.08	-11.5369	7.8043	0.29193	0.0:0.7285:0.0:0.2715	.	214	O95685	PPR3D_HUMAN	H	214	ENSP00000360035:R214H	ENSP00000360035:R214H	R	-	2	0	PPP1R3D	57947741	1.000000	0.71417	0.990000	0.47175	0.718000	0.41266	1.620000	0.36976	1.036000	0.39998	0.462000	0.41574	CGC		PASS	0.672	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	NM_006242		3	34	3	34	---	---	---	---
TAB3	257397	broad.mit.edu	37	X	30873661	30873661	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chrX:30873661C>T	ENST00000378933.1	-	3	298	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	TAB3_ENST00000378932.2_Missense_Mutation_p.A41T|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378930.3_Missense_Mutation_p.A41T|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Missense_Mutation_p.A41T	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	41	CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.A41T(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						CGGCAACAGGCTTCAAGATTG	0.373																																					Pancreas(164;1598 1985 29022 43301 49529)	uc004dcj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(121-123)GCC>ACC		mitogen-activated protein kinase kinase kinase 7							30.0	30.0	30.0					X																	30873661		2194	4290	6484	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30873661C>T	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.121G>A	X.37:g.30873661C>T	ENSP00000368215:p.Ala41Thr					TAB3_uc004dck.2_Missense_Mutation_p.A41T|TAB3_uc010ngl.2_Missense_Mutation_p.A41T	p.A41T	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN			6	784	-			41			CUE.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.121G>A	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168367	0.57584	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	5.44	5.44	0.79542	Ubiquitin system component Cue (3);	0.160421	0.56097	D	0.000029	D	0.82323	0.5012	L	0.54323	1.7	0.43545	D	0.995844	D;D	0.61697	0.988;0.99	P;P	0.60173	0.794;0.87	D	0.83445	0.0045	10	0.59425	D	0.04	-1.5089	18.5384	0.91019	0.0:1.0:0.0:0.0	.	41;41	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	T	41	ENSP00000368215:A41T;ENSP00000368212:A41T;ENSP00000288422:A41T;ENSP00000368214:A41T	ENSP00000288422:A41T	A	-	1	0	TAB3	30783582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.820000	0.55693	2.407000	0.81776	0.600000	0.82982	GCC		PASS	0.373	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		8	21	8	21	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70466473	70466473	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chrX:70466473G>C	ENST00000353904.2	-	14	2571	c.2384C>G	c.(2383-2385)aCc>aGc	p.T795S	ZMYM3_ENST00000314425.5_Missense_Mutation_p.T795S|ZMYM3_ENST00000373984.3_Missense_Mutation_p.T797S|ZMYM3_ENST00000373998.1_Intron|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.T797S	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	795					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.T795S(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)					TTCCTCTGGGGTCCTCACTGT	0.507																																						uc004dzh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2383-2385)ACC>AGC		zinc finger protein 261							168.0	141.0	150.0					X																	70466473		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70466473G>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.2384C>G	X.37:g.70466473G>C	ENSP00000343909:p.Thr795Ser					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.T795S|ZMYM3_uc004dzj.1_Intron	p.T795S	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			14	2471	-	Renal(35;0.156)		795					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.2384C>G	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	1.609	-0.524510	0.04141	.	.	ENSG00000147130	ENST00000314425;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T	0.30448	1.53;1.53;1.54;1.53	4.61	2.75	0.32379	.	0.499327	0.20031	N	0.100702	T	0.13114	0.0318	N	0.11845	0.185	0.20307	N	0.999914	B	0.06786	0.001	B	0.04013	0.001	T	0.33727	-0.9857	10	0.06365	T	0.9	-4.7389	7.6642	0.28421	0.0908:0.1602:0.749:0.0	.	795	Q14202	ZMYM3_HUMAN	S	795;795;797;797	ENSP00000322845:T795S;ENSP00000343909:T795S;ENSP00000363096:T797S;ENSP00000363100:T797S	ENSP00000322845:T795S	T	-	2	0	ZMYM3	70383198	0.482000	0.25948	0.764000	0.31436	0.994000	0.84299	0.435000	0.21510	0.453000	0.26858	0.529000	0.55759	ACC		PASS	0.507	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		10	6	10	6	---	---	---	---
TEX13A	56157	broad.mit.edu	37	X	104464700	104464700	+	Silent	SNP	G	G	T			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chrX:104464700G>T	ENST00000413579.1	-	2	493	c.382C>A	c.(382-384)Cgg>Agg	p.R128R	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_Silent_p.R128R|TEX13A_ENST00000372575.1_Silent_p.R128R|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	128							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						ATTCTTAGCCGGGAGGCCGCC	0.592																																						uc004ema.2																			0				ovary(2)	2						c.(382-384)CGG>AGG		testis expressed sequence 13A							36.0	37.0	36.0					X																	104464700		2140	4213	6353	SO:0001819	synonymous_variant	56157					intracellular	zinc ion binding	g.chrX:104464700G>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.382C>A	X.37:g.104464700G>T						IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Silent_p.R128R	p.R128R	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN			2	494	-			128					B1B1G8|Q32NB6	Silent	SNP	ENST00000413579.1	37	c.382C>A																																																																																					PASS	0.592	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		21	14	21	14	---	---	---	---
WRNIP1	56897	broad.mit.edu	37	6	2766468	2766469	+	Frame_Shift_Ins	INS	-	-	G	rs148900120		TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr6:2766468_2766469insG	ENST00000380773.4	+	1	821_822	c.612_613insG	c.(613-615)gggfs	p.G205fs	WRNIP1_ENST00000380771.4_Frame_Shift_Ins_p.G205fs|WRNIP1_ENST00000380764.1_5'Flank|WRNIP1_ENST00000380769.4_5'UTR	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GGGCCAGTggcgggggccgccc	0.752																																						uc003mtz.2																			0				ovary(1)|pancreas(1)	2						c.(610-615)GGCGGGfs		Werner helicase interacting protein isoform 1																																				SO:0001589	frameshift_variant	56897				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	g.chr6:2766468_2766469insG	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.617dupG	6.37:g.2766473_2766473dupG	ENSP00000370150:p.Gly205fs					WRNIP1_uc003mua.2_Frame_Shift_Ins_p.G204fs	p.G204fs	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN			1	803_804	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	204_205						Frame_Shift_Ins	INS	ENST00000380773.4	37	c.612_613insG	CCDS4475.1																																																																																					0.752	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	NM_130395		4	2	4	2	---	---	---	---
ST8SIA6	338596	broad.mit.edu	37	10	17365142	17365142	+	Frame_Shift_Del	DEL	G	G	-			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr10:17365142delG	ENST00000377602.4	-	7	724	c.650delC	c.(649-651)ccafs	p.P217fs		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	217					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TCCTGTGGTTGGGGGTAGGTT	0.353																																						uc001ipd.2																			0				ovary(1)	1						c.(649-651)CCAfs		ST8 alpha-N-acetyl-neuraminide							148.0	139.0	142.0					10																	17365142		2203	4300	6503	SO:0001589	frameshift_variant	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17365142delG		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.650delC	10.37:g.17365142delG	ENSP00000366827:p.Pro217fs					ST8SIA6_uc010qce.1_RNA	p.P217fs	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN			7	650	-			217			Lumenal (Potential).		B0YJ97|B9EH72|Q5VZH4	Frame_Shift_Del	DEL	ENST00000377602.4	37	c.650delC	CCDS31158.1																																																																																					0.353	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		56	30	56	30	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651228	+	In_Frame_Del	DEL	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	-	rs190828070|rs71454096|rs71025763|rs144216147|rs369130959	byFrequency	TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENST00000399676.2	+	1	167_196	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	c.(127-159)ggaggctgtgggggctgtggctccggctgtgcg>ggg	p.GCGGCGSGCA44del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	44						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg	0.691																																						uc001lty.2																			0				lung(1)	1						c.(127-159)GGAGGCTGTGGGGGCTGTGGCTCCGGCTGTGCG>GGG		keratin associated protein 5-5				1550,180,1680		393,53,711,32,63,453						3.0	0.7		dbSNP_130	23	2914,455,3725		670,91,1483,84,196,1023	no	codingComplex	KRTAP5-5	NM_001001480.2		1063,144,2194,116,259,1476	A1A1,A1A2,A1R,A2A2,A2R,RR		47.4908,50.7331,48.5434				4464,635,5405				SO:0001651	inframe_deletion	439915					keratin filament		g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	11.37:g.1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENSP00000382584:p.Gly44_Ala53del						p.GCGGCGSGCA44del	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	167_196	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	44_53	A -> G (in Ref. 1; BAD20201 and 2; CAF31639).				A8MWN2	In_Frame_Del	DEL	ENST00000399676.2	37	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	CCDS41592.1																																																																																					0.691	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			26	13	26	13	---	---	---	---
SLC6A4	6532	broad.mit.edu	37	17	28545947	28545947	+	Frame_Shift_Del	DEL	C	C	-			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chr17:28545947delC	ENST00000401766.2	-	3	858	c.346delG	c.(346-348)gcafs	p.A116fs	SLC6A4_ENST00000261707.3_Frame_Shift_Del_p.A116fs			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	116					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	AGGAGGAATGCCCCTGAGGCA	0.527																																						uc002hey.3																			0				skin(3)|ovary(1)	4						c.(346-348)GCAfs		solute carrier family 6 member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						107.0	99.0	102.0					17																	28545947		2203	4300	6503	SO:0001589	frameshift_variant	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28545947delC	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.346delG	17.37:g.28545947delC	ENSP00000385822:p.Ala116fs						p.A116fs	NM_001045	NP_001036	P31645	SC6A4_HUMAN			4	890	-			116			Helical; Name=2; (Potential).		Q5EE02	Frame_Shift_Del	DEL	ENST00000401766.2	37	c.346delG	CCDS11256.1																																																																																					0.527	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		43	19	43	19	---	---	---	---
TGIF2LX	90316	broad.mit.edu	37	X	89177283	89177283	+	Frame_Shift_Del	DEL	G	G	-			TCGA-22-5480-01A-01D-1632-08	TCGA-22-5480-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	24e426fb-219a-4a4d-a45c-c9b0896d0e88	77dda1a1-3c2e-488d-9cd0-da78dba549ec	g.chrX:89177283delG	ENST00000561129.2	+	1	329	c.199delG	c.(199-201)gacfs	p.D67fs	TGIF2LX_ENST00000283891.5_Frame_Shift_Del_p.D67fs			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GATCCTCCGCGACTGGATGTA	0.468																																						uc004efe.2																			0				ovary(1)|skin(1)	2						c.(199-201)GACfs		TGFB-induced factor homeobox 2-like, X-linked							45.0	40.0	42.0					X																	89177283		2201	4279	6480	SO:0001589	frameshift_variant	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177283delG	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.199delG	X.37:g.89177283delG	ENSP00000453704:p.Asp67fs						p.D67fs	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	248	+			67			Homeobox; TALE-type.		Q5JRM9|Q8TD48	Frame_Shift_Del	DEL	ENST00000561129.2	37	c.199delG	CCDS14459.1																																																																																					0.468	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		37	34	37	34	---	---	---	---
