#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PTCHD2	57540	broad.mit.edu	37	1	11561291	11561291	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:11561291G>A	ENST00000294484.6	+	2	380	c.242G>A	c.(241-243)gGc>gAc	p.G81D	PTCHD2_ENST00000389575.3_Missense_Mutation_p.G81D	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	81					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTCTTCCTGGGCTGCAGCATC	0.612																																							uc001ash.3		NA																	0				skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(241-243)GGC>GAC		patched domain containing 2							84.0	87.0	86.0					1																	11561291		2126	4247	6373	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561291G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.242G>A	1.37:g.11561291G>A	ENSP00000294484:p.Gly81Asp					PTCHD2_uc001asi.1_Missense_Mutation_p.G81D	p.G81D	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	380	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	81			Helical; (Potential).		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.242G>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096259	0.56075	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.23950	1.88;1.88	5.91	5.91	0.95273	.	0.228548	0.34580	U	0.003847	T	0.39886	0.1095	L	0.27053	0.805	0.51233	D	0.999918	D	0.76494	0.999	D	0.66196	0.942	T	0.15407	-1.0438	10	0.66056	D	0.02	-28.4776	19.2867	0.94077	0.0:0.0:1.0:0.0	.	81	Q9P2K9	PTHD2_HUMAN	D	81	ENSP00000294484:G81D;ENSP00000374226:G81D	ENSP00000294484:G81D	G	+	2	0	PTCHD2	11483878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.941000	0.63540	2.793000	0.96121	0.655000	0.94253	GGC		0.612	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		11	69	0	0	0	0.001368	0	11	69				
VPS13D	55187	broad.mit.edu	37	1	12364726	12364726	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:12364726C>T	ENST00000358136.3	+	26	6510	c.6380C>T	c.(6379-6381)tCc>tTc	p.S2127F	VPS13D_ENST00000356315.4_Missense_Mutation_p.S2127F	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCCAGTACCTCCACCAAGCAG	0.547																																							uc001atv.2		NA																	0				ovary(4)|pancreas(1)	5						c.(6379-6381)TCC>TTC		vacuolar protein sorting 13D isoform 1							89.0	84.0	86.0					1																	12364726		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12364726C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6380C>T	1.37:g.12364726C>T	ENSP00000350854:p.Ser2127Phe					VPS13D_uc001atw.2_Missense_Mutation_p.S2127F|VPS13D_uc001atx.2_Missense_Mutation_p.S1315F	p.S2127F	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	26	6521	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2127						Missense_Mutation	SNP	ENST00000358136.3	37	c.6380C>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.357|6.357	0.433897|0.433897	0.12045|0.12045	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.53423	.|0.62;0.63	6.08|6.08	0.175|0.175	0.15045|0.15045	.|.	.|1.519180	.|0.03492	.|N	.|0.216730	T|T	0.24160|0.24160	0.0585|0.0585	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.26400	.|0.047;0.148	.|B;B	.|0.21360	.|0.034;0.034	T|T	0.13388|0.13388	-1.0511|-1.0511	5|10	.|0.09843	.|T	.|0.71	.|.	5.6779|5.6779	0.17759|0.17759	0.0:0.4647:0.2681:0.2672|0.0:0.4647:0.2681:0.2672	.|.	.|2127;2127	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	S|F	950|2127	.|ENSP00000348666:S2127F;ENSP00000350854:S2127F	.|ENSP00000348666:S2127F	P|S	+|+	1|2	0|0	VPS13D|VPS13D	12287313|12287313	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.857000|0.857000	0.48899|0.48899	-0.163000|-0.163000	0.09997|0.09997	0.120000|0.120000	0.18254|0.18254	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.547	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		6	46	0	0	0	0.001984	0	6	46				
PUM1	9698	broad.mit.edu	37	1	31532134	31532134	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:31532134C>A	ENST00000257075.5	-	2	373	c.280G>T	c.(280-282)Ggg>Tgg	p.G94W	PUM1_ENST00000423018.2_Missense_Mutation_p.G94W|PUM1_ENST00000424085.2_Missense_Mutation_p.G94W|PUM1_ENST00000373741.4_Missense_Mutation_p.G130W|PUM1_ENST00000373742.2_Missense_Mutation_p.G130W|PUM1_ENST00000426105.2_Missense_Mutation_p.G94W|PUM1_ENST00000440538.2_Missense_Mutation_p.G94W|PUM1_ENST00000373747.3_Missense_Mutation_p.G94W	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	94					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CCTCCTCCCCCAAGCTGCTCA	0.507																																							uc001bsi.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(280-282)GGG>TGG		pumilio 1 isoform 2							102.0	95.0	97.0					1																	31532134		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31532134C>A	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.280G>T	1.37:g.31532134C>A	ENSP00000257075:p.Gly94Trp					PUM1_uc001bsh.1_Missense_Mutation_p.G94W|PUM1_uc001bsj.1_Missense_Mutation_p.G94W|PUM1_uc010oga.1_Missense_Mutation_p.G94W|PUM1_uc001bsk.1_Missense_Mutation_p.G130W|PUM1_uc010ogb.1_Missense_Mutation_p.G130W	p.G94W	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	2	393	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	94					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.280G>T	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.938225|3.938225	0.73557|0.73557	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952;ENST00000531867|ENST00000525843	T;T;T;T;T;T;T;T|.	0.28069|.	1.63;2.23;2.49;2.48;2.47;2.47;2.19;1.88|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71508|0.71508	0.3348|0.3348	L|L	0.55481|0.55481	1.735|1.735	0.42111|0.42111	D|D	0.991381|0.991381	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.87578|.	0.996;0.996;0.996;0.998;0.996;0.996|.	T|T	0.68398|0.68398	-0.5419|-0.5419	10|5	0.72032|.	D|.	0.01|.	-5.7858|-5.7858	19.0661|19.0661	0.93110|0.93110	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	130;94;130;94;94;94|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0|.	.;.;.;.;PUM1_HUMAN;.|.	W|L	94;94;94;94;94;94;130;94;130;94;94|110	ENSP00000400141:G94W;ENSP00000257075:G94W;ENSP00000362852:G94W;ENSP00000391723:G94W;ENSP00000401777:G94W;ENSP00000362846:G130W;ENSP00000399440:G94W;ENSP00000362847:G130W|.	ENSP00000257075:G94W|.	G|W	-|-	1|2	0|0	PUM1|PUM1	31304721|31304721	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.320000|7.320000	0.79064|0.79064	2.746000|2.746000	0.94184|0.94184	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.507	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			16	43	1	0	7.07596e-05	0.006122	8.44318e-05	16	43				
NFYC	4802	broad.mit.edu	37	1	41215346	41215346	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:41215346C>T	ENST00000308733.5	+	3	285	c.279C>T	c.(277-279)cgC>cgT	p.R93R	NFYC_ENST00000447388.3_Silent_p.R93R|NFYC_ENST00000425457.2_Silent_p.R93R|NFYC_ENST00000372654.1_Silent_p.R93R|NFYC_ENST00000440226.3_Silent_p.R93R|NFYC_ENST00000456393.2_Silent_p.R93R|NFYC_ENST00000372651.1_Silent_p.R93R|NFYC_ENST00000427410.2_Intron|NFYC_ENST00000372653.1_Silent_p.R93R|NFYC_ENST00000372652.1_Silent_p.R93R			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	93					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			ATAACAAGCGCCGGACTCTAC	0.473																																							uc001cge.2		NA																	0				breast(2)|kidney(1)	3						c.(277-279)CGC>CGT		nuclear transcription factor Y, gamma isoform 1							66.0	67.0	66.0					1																	41215346		2203	4300	6503	SO:0001819	synonymous_variant	4802				protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:41215346C>T	U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.279C>T	1.37:g.41215346C>T						NFYC_uc010ojm.1_Intron|NFYC_uc001cfx.3_Silent_p.R93R|NFYC_uc009vwd.2_Silent_p.R93R|NFYC_uc001cfz.2_Silent_p.R93R|NFYC_uc010ojn.1_Intron|NFYC_uc001cfy.3_Silent_p.R93R|NFYC_uc001cgc.2_Silent_p.R93R|NFYC_uc001cgb.2_Silent_p.R93R|NFYC_uc001cgd.3_Silent_p.R93R	p.R93R	NM_001142588	NP_001136060	Q13952	NFYC_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)		3	287	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	93					B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Silent	SNP	ENST00000308733.5	37	c.279C>T																																																																																					0.473	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223		32	55	0	0	0	0.001786	0	32	55				
PLK3	1263	broad.mit.edu	37	1	45270044	45270044	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:45270044A>T	ENST00000372201.4	+	12	1615	c.1376A>T	c.(1375-1377)gAg>gTg	p.E459V	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	459					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCCCAGCCAGAGCCTCTGGTG	0.617																																							uc001cmn.2		NA																	0					0						c.(1375-1377)GAG>GTG		polo-like kinase 3							62.0	74.0	70.0					1																	45270044		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45270044A>T	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1376A>T	1.37:g.45270044A>T	ENSP00000361275:p.Glu459Val					PLK3_uc001cmo.2_RNA	p.E459V	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN			12	1476	+	Acute lymphoblastic leukemia(166;0.155)		459					Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1376A>T	CCDS515.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096102	0.76870	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.14516	2.5	5.47	5.47	0.80525	.	.	.	.	.	T	0.12817	0.0311	L	0.38175	1.15	0.48632	D	0.999688	B	0.26445	0.149	B	0.24394	0.053	T	0.06917	-1.0800	9	0.32370	T	0.25	-21.163	14.7225	0.69317	1.0:0.0:0.0:0.0	.	459	Q9H4B4	PLK3_HUMAN	V	459;434	ENSP00000361275:E459V	ENSP00000361275:E459V	E	+	2	0	PLK3	45042631	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.110000	0.71535	2.070000	0.61991	0.482000	0.46254	GAG		0.617	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		33	115	0	0	0	0.003271	0	33	115				
INADL	10207	broad.mit.edu	37	1	62367102	62367102	+	Missense_Mutation	SNP	G	G	A	rs545651035		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:62367102G>A	ENST00000371158.2	+	24	3466	c.3352G>A	c.(3352-3354)Gca>Aca	p.A1118T	INADL_ENST00000316485.6_Missense_Mutation_p.A1118T	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1118	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.A1118T(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GAAGACGAACGCACTTAAAAC	0.343													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18169	0.0		0.0	False		,,,				2504	0.0						uc001dab.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(3)|skin(1)	4						c.(3352-3354)GCA>ACA		InaD-like							97.0	94.0	95.0					1																	62367102		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62367102G>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3352G>A	1.37:g.62367102G>A	ENSP00000360200:p.Ala1118Thr					INADL_uc009waf.1_Missense_Mutation_p.A1118T|INADL_uc001daa.2_Missense_Mutation_p.A1118T|INADL_uc001dad.3_Missense_Mutation_p.A815T|INADL_uc001dac.2_RNA	p.A1118T	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			24	3466	+			1118			PDZ 6.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.3352G>A	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	7.056	0.565414	0.13560	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.41758	0.99;0.99	5.52	5.52	0.82312	PDZ/DHR/GLGF (4);	0.159833	0.43579	D	0.000560	T	0.37073	0.0990	N	0.02412	-0.56	0.80722	D	1	P;D;D	0.61080	0.663;0.977;0.989	P;P;P	0.60541	0.544;0.808;0.876	T	0.48234	-0.9053	10	0.21014	T	0.42	.	19.8567	0.96761	0.0:0.0:1.0:0.0	.	1118;1118;1118	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	T	1118	ENSP00000360200:A1118T;ENSP00000326199:A1118T	ENSP00000255202:A1118T	A	+	1	0	INADL	62139690	0.979000	0.34478	0.819000	0.32651	0.149000	0.21700	2.918000	0.48829	2.764000	0.94973	0.650000	0.86243	GCA		0.343	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		4	20	0	0	0	0.000248	0	4	20				
BCL10	8915	broad.mit.edu	37	1	85733446	85733446	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:85733446G>C	ENST00000370580.1	-	3	1303	c.566C>G	c.(565-567)tCa>tGa	p.S189*		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	189					adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		AAGTGTAGTTGAAGAGAAGAT	0.453			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	NSCLC(34;993 1034 12176 32621 50182)	uc001dkz.2		NA		Dom	yes		1	1p22	8915	T	B-cell CLL/lymphoma 10			L	IGH@		MALT 		0				lung(2)	2						c.(565-567)TCA>TGA		B-cell CLL/lymphoma 10							98.0	104.0	102.0					1																	85733446		2203	4300	6503	SO:0001587	stop_gained	8915				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr1:85733446G>C	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.566C>G	1.37:g.85733446G>C	ENSP00000359612:p.Ser189*						p.S189*	NM_003921	NP_003912	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)	4	1271	-			189					Q5VUF1	Nonsense_Mutation	SNP	ENST00000370580.1	37	c.566C>G	CCDS704.1	.	.	.	.	.	.	.	.	.	.	G	44	11.036259	0.99506	.	.	ENSG00000142867	ENST00000370580;ENST00000271015	.	.	.	5.82	4.9	0.64082	.	0.522534	0.21068	N	0.080706	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.153	13.182	0.59660	0.0793:0.0:0.9207:0.0	.	.	.	.	X	189	.	ENSP00000271015:S189X	S	-	2	0	BCL10	85506034	1.000000	0.71417	0.964000	0.40570	0.989000	0.77384	4.014000	0.57145	2.753000	0.94483	0.467000	0.42956	TCA		0.453	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		8	26	0	0	0	0.00308	0	8	26				
CLCA4	22802	broad.mit.edu	37	1	87041018	87041018	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:87041018G>T	ENST00000370563.3	+	11	1729	c.1687G>T	c.(1687-1689)Ggc>Tgc	p.G563C	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	563					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.G563F(1)|p.G563C(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CTTTTAGGTGGGCACTTGGGC	0.353																																							uc009wcs.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1687-1689)GGC>TGC		chloride channel accessory 4							51.0	48.0	49.0					1																	87041018		1843	4080	5923	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87041018G>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1687G>T	1.37:g.87041018G>T	ENSP00000359594:p.Gly563Cys					CLCA4_uc009wct.2_Missense_Mutation_p.G326C|CLCA4_uc009wcu.2_Missense_Mutation_p.G383C	p.G563C	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	11	1731	+		Lung NSC(277;0.238)	563					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.1687G>T	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279887	0.59758	.	.	ENSG00000016602	ENST00000370563	T	0.63096	-0.02	5.98	5.98	0.97165	Domain of unknown function DUF1973 (1);	0.000000	0.85682	D	0.000000	D	0.82309	0.5009	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84560	0.0649	10	0.87932	D	0	-23.4338	20.0384	0.97572	0.0:0.0:1.0:0.0	.	115;563	Q9NXP1;Q14CN2	.;CLCA4_HUMAN	C	563	ENSP00000359594:G563C	ENSP00000359594:G563C	G	+	1	0	CLCA4	86813606	1.000000	0.71417	0.982000	0.44146	0.240000	0.25518	7.331000	0.79192	2.838000	0.97847	0.655000	0.94253	GGC		0.353	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		7	30	1	0	1.26484e-09	0.00308	1.66751e-09	7	30				
DPYD	1806	broad.mit.edu	37	1	98187218	98187218	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:98187218C>T	ENST00000370192.3	-	5	431	c.331G>A	c.(331-333)Gga>Aga	p.G111R	DPYD_ENST00000423006.2_Missense_Mutation_p.G74R|DPYD_ENST00000474241.1_5'Flank|DPYD_ENST00000306031.5_Missense_Mutation_p.G111R	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	111					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TTAGCAGCTCCATAATAGTTC	0.318																																							uc001drv.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(331-333)GGA>AGA		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						64.0	64.0	64.0					1																	98187218		2203	4298	6501	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98187218C>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.331G>A	1.37:g.98187218C>T	ENSP00000359211:p.Gly111Arg					DPYD_uc010oub.1_RNA|DPYD_uc001drw.2_Missense_Mutation_p.G111R	p.G111R	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	5	468	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	111					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.331G>A	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001186	0.93227	.	.	ENSG00000188641	ENST00000370192;ENST00000423006;ENST00000306031	D;D;D	0.83250	-1.7;-1.7;-1.7	6.06	6.06	0.98353	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.265122	0.43110	D	0.000613	D	0.91938	0.7447	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.91519	0.5233	10	0.66056	D	0.02	-18.7164	20.6397	0.99537	0.0:1.0:0.0:0.0	.	111;111	E9PFN1;Q12882	.;DPYD_HUMAN	R	111;74;111	ENSP00000359211:G111R;ENSP00000398884:G74R;ENSP00000307107:G111R	ENSP00000307107:G111R	G	-	1	0	DPYD	97959806	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.433000	0.80362	2.880000	0.98712	0.650000	0.86243	GGA		0.318	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		5	26	0	0	0	0.000602	0	5	26				
PALMD	54873	broad.mit.edu	37	1	100152304	100152304	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:100152304G>C	ENST00000263174.4	+	4	699	c.324G>C	c.(322-324)aaG>aaC	p.K108N	PALMD_ENST00000605497.1_Missense_Mutation_p.K108N	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	108					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CCATTTTAAAGAAACTAAAGT	0.333																																							uc001dsg.2		NA																	0				ovary(2)|pancreas(1)	3						c.(322-324)AAG>AAC		palmdelphin							85.0	94.0	91.0					1																	100152304		2203	4300	6503	SO:0001583	missense	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100152304G>C	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.324G>C	1.37:g.100152304G>C	ENSP00000263174:p.Lys108Asn					PALMD_uc001dsf.2_Missense_Mutation_p.K108N	p.K108N	NM_017734	NP_060204	Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	4	767	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	108					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	c.324G>C	CCDS758.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.853077	0.71719	.	.	ENSG00000099260	ENST00000263174	T	0.17054	2.3	5.87	5.87	0.94306	.	0.149890	0.64402	D	0.000017	T	0.28732	0.0712	L	0.56769	1.78	0.45076	D	0.998098	D;D	0.71674	0.998;0.998	D;D	0.69824	0.966;0.943	T	0.00234	-1.1893	10	0.51188	T	0.08	-23.138	14.7159	0.69269	0.069:0.0:0.931:0.0	.	108;28	Q9NP74;Q9NP74-2	PALMD_HUMAN;.	N	108	ENSP00000263174:K108N	ENSP00000263174:K108N	K	+	3	2	PALMD	99924892	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.716000	0.68437	2.941000	0.99782	0.655000	0.94253	AAG		0.333	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		3	76	0	0	0	0.004672	0	3	76				
MYBPHL	343263	broad.mit.edu	37	1	109839703	109839703	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:109839703T>A	ENST00000357155.1	-	4	588	c.539A>T	c.(538-540)tAc>tTc	p.Y180F	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	180	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		CTGCACCGTGTATCCCAGAAG	0.577																																							uc001dxk.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(538-540)TAC>TTC		myosin binding protein H-like							171.0	170.0	170.0					1																	109839703		2203	4300	6503	SO:0001583	missense	343263							g.chr1:109839703T>A	AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.539A>T	1.37:g.109839703T>A	ENSP00000349678:p.Tyr180Phe					MYBPHL_uc010ovh.1_Missense_Mutation_p.Y157F|MYBPHL_uc001dxl.2_Intron	p.Y180F	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)	4	589	-		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)	180			Fibronectin type-III.		B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	c.539A>T	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.421434	0.83559	.	.	ENSG00000221986	ENST00000357155	D	0.95885	-3.84	4.15	4.15	0.48705	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	D	0.97614	0.9218	M	0.91196	3.185	0.48288	D	0.99962	D;D	0.62365	0.969;0.991	D;D	0.72625	0.944;0.978	D	0.98185	1.0459	9	0.87932	D	0	.	11.7965	0.52102	0.0:0.0:0.0:1.0	.	157;180	B7ZME5;A2RUH7	.;MBPHL_HUMAN	F	180	ENSP00000349678:Y180F	ENSP00000349678:Y180F	Y	-	2	0	MYBPHL	109641226	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.420000	0.80191	2.116000	0.64780	0.459000	0.35465	TAC		0.577	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		27	104	0	0	0	0.005443	0	27	104				
RBM15	64783	broad.mit.edu	37	1	110882411	110882411	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:110882411C>T	ENST00000369784.3	+	1	1284	c.384C>T	c.(382-384)tcC>tcT	p.S128S	RBM15_ENST00000602849.1_Silent_p.S128S|RBM15_ENST00000487146.2_Silent_p.S128S|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	128	Gly/Ser-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTTATAGCTCCCCGAGCACCA	0.657			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001dzl.1		NA		Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(382-384)TCC>TCT		RNA binding motif protein 15							10.0	14.0	13.0					1																	110882411		2121	4232	6353	SO:0001819	synonymous_variant	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110882411C>T	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.384C>T	1.37:g.110882411C>T			OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1430	RBM15_uc001dzm.1_Silent_p.S128S|uc001dzj.2_5'Flank	p.S128S	NM_022768	NP_073605	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	467	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	128			Gly/Ser-rich.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	ENST00000369784.3	37	c.384C>T	CCDS822.1																																																																																				0.657	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		3	20	0	0	0	0.004672	0	3	20				
HIST2H2AC	8338	broad.mit.edu	37	1	149858580	149858580	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:149858580C>A	ENST00000331380.2	+	1	56	c.56C>A	c.(55-57)tCg>tAg	p.S19*	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	19						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AAGTCGCGCTCGTCCCGCGCT	0.637																																							uc001etd.2		NA																	0				ovary(1)|skin(1)	2						c.(55-57)TCG>TAG		histone cluster 2, H2ac							74.0	81.0	79.0					1																	149858580		2203	4300	6503	SO:0001587	stop_gained	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858580C>A	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.56C>A	1.37:g.149858580C>A	ENSP00000332194:p.Ser19*					HIST2H2BE_uc001etc.2_5'Flank	p.S19*	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	56	+	Breast(34;0.0124)|all_hematologic(923;0.127)		19					Q6DRA7|Q8IUE5	Nonsense_Mutation	SNP	ENST00000331380.2	37	c.56C>A	CCDS937.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094611	0.94149	.	.	ENSG00000184260	ENST00000331380	.	.	.	5.62	5.62	0.85841	.	0.000000	0.39274	N	0.001419	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2392	0.89961	0.0:1.0:0.0:0.0	.	.	.	.	X	19	.	ENSP00000332194:S19X	S	+	2	0	HIST2H2AC	148125204	1.000000	0.71417	0.537000	0.28052	0.984000	0.73092	7.676000	0.84012	2.643000	0.89663	0.655000	0.94253	TCG		0.637	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		7	168	1	0	1.76689e-08	0.006214	2.28657e-08	7	168				
CRNN	49860	broad.mit.edu	37	1	152382721	152382721	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:152382721G>A	ENST00000271835.3	-	3	899	c.837C>T	c.(835-837)agC>agT	p.S279S	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	279	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACAGCCTGGCTGGTCTGGC	0.607																																							uc001ezx.2		NA																	0				ovary(2)|skin(1)	3						c.(835-837)AGC>AGT		cornulin							272.0	267.0	269.0					1																	152382721		2203	4300	6503	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382721G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.837C>T	1.37:g.152382721G>A							p.S279S	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	911	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		279			Gln-rich.		B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.837C>T	CCDS1010.1																																																																																				0.607	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		55	437	0	0	0	0.00361	0	55	437				
INSRR	3645	broad.mit.edu	37	1	156821927	156821927	+	Missense_Mutation	SNP	C	C	T	rs140347940		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:156821927C>T	ENST00000368195.3	-	3	1090	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	232					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCAGGCATTCGGTGTGGCAG	0.672																																							uc010pht.1		NA																	0				lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(694-696)GAA>AAA		insulin receptor-related receptor precursor		C	,LYS/GLU	1,4379		0,1,2189	28.0	29.0	29.0		,694	3.7	0.9	1	dbSNP_134	29	1,8575		0,1,4287	no	intron,missense	INSRR,NTRK1	NM_001007792.1,NM_014215.2	,56	0,2,6476	TT,TC,CC		0.0117,0.0228,0.0154	,benign	,232/1298	156821927	2,12954	2190	4288	6478	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156821927C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.694G>A	1.37:g.156821927C>T	ENSP00000357178:p.Glu232Lys					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.E232K	p.E232K	NM_014215	NP_055030	P14616	INSRR_HUMAN			3	948	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		232					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.694G>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087998	0.55968	2.28E-4	1.17E-4	ENSG00000027644	ENST00000368195	T	0.29917	1.55	4.62	3.66	0.41972	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.287853	0.24649	N	0.036721	T	0.15435	0.0372	.	.	.	0.36385	D	0.862172	P	0.47762	0.9	B	0.39590	0.304	T	0.05683	-1.0870	9	0.49607	T	0.09	.	13.6138	0.62094	0.0:0.8441:0.1559:0.0	.	232	P14616	INSRR_HUMAN	K	232	ENSP00000357178:E232K	ENSP00000357178:E232K	E	-	1	0	INSRR	155088551	1.000000	0.71417	0.858000	0.33744	0.877000	0.50540	4.920000	0.63390	2.419000	0.82065	0.456000	0.33151	GAA		0.672	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		8	54	0	0	0	0.00308	0	8	54				
NTRK1	4914	broad.mit.edu	37	1	156834552	156834552	+	Missense_Mutation	SNP	C	C	T	rs540521894		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:156834552C>T	ENST00000524377.1	+	3	361	c.320C>T	c.(319-321)gCg>gTg	p.A107V	NTRK1_ENST00000358660.3_Missense_Mutation_p.A107V|NTRK1_ENST00000392302.2_Missense_Mutation_p.A77V|NTRK1_ENST00000368196.3_Missense_Mutation_p.A107V	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	107			A -> V (in an ovarian serous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A107V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CGTTTCGTGGCGCCAGATGCC	0.637			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18342	0.0		0.0	False		,,,				2504	0.001						uc001fqh.1		NA		Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		1	Substitution - Missense(1)	p.A107V(1)	ovary(1)	lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(319-321)GCG>GTG		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						113.0	87.0	96.0					1																	156834552		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156834552C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.320C>T	1.37:g.156834552C>T	ENSP00000431418:p.Ala107Val	TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Missense_Mutation_p.A77V|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Missense_Mutation_p.A107V|NTRK1_uc009wsk.1_Missense_Mutation_p.A107V	p.A107V	NM_002529	NP_002520	P04629	NTRK1_HUMAN			3	376	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		107		A -> V (in an ovarian serous carcinoma sample; somatic mutation).	LRR 1.|Extracellular (Potential).		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.320C>T	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	33	5.283056	0.95489	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.14	5.14	0.70334	.	0.120506	0.37530	N	0.002055	T	0.62417	0.2426	L	0.47190	1.495	0.44181	D	0.996995	D;D;D;D	0.76494	0.997;0.996;0.999;0.998	P;P;D;P	0.68483	0.716;0.52;0.958;0.762	T	0.65516	-0.6149	10	0.59425	D	0.04	.	15.316	0.74078	0.0:1.0:0.0:0.0	.	107;107;107;77	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	V	77;107;107;107	ENSP00000376120:A77V;ENSP00000357179:A107V;ENSP00000431418:A107V;ENSP00000351486:A107V	ENSP00000351486:A107V	A	+	2	0	NTRK1	155101176	0.982000	0.34865	1.000000	0.80357	0.978000	0.69477	2.656000	0.46716	2.381000	0.81170	0.491000	0.48974	GCG		0.637	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		5	67	0	0	0	0.000602	0	5	67				
OR6K3	391114	broad.mit.edu	37	1	158687287	158687287	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:158687287T>C	ENST00000368146.1	-	1	666	c.667A>G	c.(667-669)Atc>Gtc	p.I223V	OR6K3_ENST00000368145.1_Missense_Mutation_p.I207V			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AAGGTAATGATGATGGTCACA	0.448																																							uc010pip.1		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(667-669)ATC>GTC		olfactory receptor, family 6, subfamily K,							146.0	138.0	141.0					1																	158687287		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687287T>C	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.667A>G	1.37:g.158687287T>C	ENSP00000357128:p.Ile223Val						p.I223V	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	667	-	all_hematologic(112;0.0378)		223			Helical; Name=5; (Potential).		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.667A>G		.	.	.	.	.	.	.	.	.	.	T	7.636	0.679772	0.14907	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.36520	1.25;1.25	3.77	-6.37	0.01963	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03871	0.0109	N	0.04508	-0.205	0.09310	N	1	B	0.13594	0.008	B	0.15484	0.013	T	0.37549	-0.9701	9	0.26408	T	0.33	.	5.5029	0.16838	0.2062:0.0837:0.5546:0.1555	.	223	Q8NGY3	OR6K3_HUMAN	V	207;223	ENSP00000357127:I207V;ENSP00000357128:I223V	ENSP00000357127:I207V	I	-	1	0	OR6K3	156953911	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	-2.626000	0.00874	-1.102000	0.03023	0.383000	0.25322	ATC		0.448	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				15	120	0	0	0	0.003163	0	15	120				
NR1I3	9970	broad.mit.edu	37	1	161202597	161202597	+	Splice_Site	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:161202597C>T	ENST00000367982.4	-	5	703	c.548G>A	c.(547-549)cGt>cAt	p.R183H	NR1I3_ENST00000367980.2_Splice_Site_p.R183H|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000511676.1_Splice_Site_p.R154H|NR1I3_ENST00000515621.1_Splice_Site_p.R108H|NR1I3_ENST00000505005.1_Splice_Site_p.R183H|NR1I3_ENST00000428574.2_Splice_Site_p.R183H|NR1I3_ENST00000367983.4_Splice_Site_p.R183H|NR1I3_ENST00000437437.2_Splice_Site_p.R154H|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000412844.2_Splice_Site_p.R154H|NR1I3_ENST00000515452.1_Splice_Site_p.R183H|NR1I3_ENST00000367985.3_Splice_Site_p.R183H|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000442691.2_Splice_Site_p.R183H|NR1I3_ENST00000506209.1_Splice_Site_p.R154H|NR1I3_ENST00000504010.1_Splice_Site_p.R154H|NR1I3_ENST00000367984.4_Splice_Site_p.R183H|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000367981.3_Splice_Site_p.R154H|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000512372.1_Splice_Site_p.R154H|NR1I3_ENST00000367979.2_Splice_Site_p.R183H|NR1I3_ENST00000508740.1_Splice_Site_p.R154H			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	183					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGTCACTCACCGGAAGACGGG	0.493																																							uc001fzx.2		NA																	0				ovary(1)|skin(1)	2						c.(547-549)CGT>CAT		constitutive androstane receptor isoform 2							100.0	101.0	101.0					1																	161202597		2203	4300	6503	SO:0001630	splice_region_variant	9970				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161202597C>T	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.548+1G>A	1.37:g.161202597C>T						TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.R183H|NR1I3_uc001fzg.2_Missense_Mutation_p.R154H|NR1I3_uc001fzh.2_Missense_Mutation_p.R154H|NR1I3_uc001fzi.2_Missense_Mutation_p.R154H|NR1I3_uc001fzj.2_Missense_Mutation_p.R154H|NR1I3_uc001fzk.2_Missense_Mutation_p.R154H|NR1I3_uc001fzl.2_Missense_Mutation_p.R154H|NR1I3_uc001fzm.2_Missense_Mutation_p.R108H|NR1I3_uc001fzn.2_Missense_Mutation_p.R16H|NR1I3_uc009wug.2_Missense_Mutation_p.R16H|NR1I3_uc001fzp.2_Missense_Mutation_p.R183H|NR1I3_uc001fzo.2_Missense_Mutation_p.R16H|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Missense_Mutation_p.R16H|NR1I3_uc001fzt.2_Missense_Mutation_p.R16H|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.R183H|NR1I3_uc001fzy.2_Missense_Mutation_p.R183H|NR1I3_uc001fzz.2_Missense_Mutation_p.R183H|NR1I3_uc001gaa.2_Missense_Mutation_p.R183H|NR1I3_uc001gab.2_Missense_Mutation_p.R183H|NR1I3_uc001gac.2_Missense_Mutation_p.R154H|NR1I3_uc010pkm.1_Missense_Mutation_p.R154H|NR1I3_uc010pkn.1_Missense_Mutation_p.R183H	p.R183H	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	751	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		183					E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	c.548G>A	CCDS41430.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047915	0.75846	.	.	ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29	5.4	4.48	0.54585	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.160493	0.51477	D	0.000089	D	0.97666	0.9235	M	0.84948	2.725	0.44908	D	0.997924	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.998;1.0;1.0;0.998;1.0;1.0;0.998;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.944;0.973;0.998;0.917;0.999;0.943;0.925;0.985;0.998;0.943;0.985;0.994;1.0;0.973;0.918;0.994;0.994;0.996	D	0.98362	1.0549	8	.	.	.	.	7.4289	0.27115	0.0:0.7436:0.1699:0.0865	.	183;154;154;183;183;183;183;183;183;183;108;154;154;154;154;154;154;183	B7Z8R7;E9PCF2;E9PHN4;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q4U0F0;D6REZ7;Q6GZ87;E9PDU3;Q6GZ68;E9PH10;Q6GZ84;E9PGH6;E9PB75	.;.;.;.;.;.;.;NR1I3_HUMAN;.;.;.;.;.;.;.;.;.;.	H	154;183;183;154;183;154;183;183;154;183;154;154;154;108;183;183;183;154;183	ENSP00000425417:R154H;ENSP00000356962:R183H;ENSP00000356959:R183H;ENSP00000407446:R154H;ENSP00000406493:R183H;ENSP00000399361:R154H;ENSP00000412672:R183H;ENSP00000424934:R183H;ENSP00000423666:R154H;ENSP00000356961:R183H;ENSP00000424345:R154H;ENSP00000427175:R154H;ENSP00000356960:R154H;ENSP00000421588:R108H;ENSP00000356963:R183H;ENSP00000356965:R183H;ENSP00000356958:R183H;ENSP00000423089:R154H;ENSP00000427034:R183H	.	R	-	2	0	NR1I3	159469221	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.525000	0.45598	1.487000	0.48415	0.561000	0.74099	CGT		0.493	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2		Missense_Mutation	11	121	0	0	0	0.008291	0	11	121				
FMO1	2326	broad.mit.edu	37	1	171254448	171254448	+	Missense_Mutation	SNP	C	C	T	rs376397216		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:171254448C>T	ENST00000354841.4	+	8	1495	c.1364C>T	c.(1363-1365)aCg>aTg	p.T455M	FMO1_ENST00000402921.2_Missense_Mutation_p.T392M|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.T455M	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	455					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	ATGCTCCTAACGGATCCACAT	0.468																																							uc009wvz.2		NA																	0				skin(1)	1						c.(1363-1365)ACG>ATG		flavin containing monooxygenase 1							162.0	144.0	150.0					1																	171254448		2203	4300	6503	SO:0001583	missense	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171254448C>T	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.1364C>T	1.37:g.171254448C>T	ENSP00000346901:p.Thr455Met					FMO1_uc010pme.1_Missense_Mutation_p.T392M|FMO1_uc001ghl.2_Missense_Mutation_p.T455M|FMO1_uc001ghm.2_Missense_Mutation_p.T455M|FMO1_uc001ghn.2_3'UTR	p.T455M	NM_002021	NP_002012	Q01740	FMO1_HUMAN			9	1500	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		455					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.1364C>T	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	c	12.12	1.841816	0.32513	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.56275	0.47;0.47;0.47	5.81	0.515	0.17013	.	0.168270	0.50627	N	0.000113	T	0.30823	0.0777	M	0.88512	2.96	0.21933	N	0.999467	P;B	0.40431	0.717;0.208	B;B	0.30401	0.115;0.081	T	0.24012	-1.0172	10	0.48119	T	0.1	-11.3349	7.4335	0.27141	0.1746:0.5787:0.0:0.2468	.	392;455	B7Z3P4;Q01740	.;FMO1_HUMAN	M	455;392;455	ENSP00000356724:T455M;ENSP00000385543:T392M;ENSP00000346901:T455M	ENSP00000346901:T455M	T	+	2	0	FMO1	169521072	0.000000	0.05858	0.965000	0.40720	0.158000	0.22134	-0.976000	0.03786	0.121000	0.18284	-2.223000	0.00295	ACG		0.468	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		9	88	0	0	0	0.004482	0	9	88				
ASPM	259266	broad.mit.edu	37	1	197112506	197112506	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:197112506C>T	ENST00000367409.4	-	3	1132	c.876G>A	c.(874-876)gaG>gaA	p.E292E	ASPM_ENST00000294732.7_Silent_p.E292E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	292					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTTTACTATTCTCTCCTCTTT	0.328																																							uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(874-876)GAG>GAA		asp (abnormal spindle)-like, microcephaly							81.0	81.0	81.0					1																	197112506		2202	4300	6502	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197112506C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.876G>A	1.37:g.197112506C>T						ASPM_uc001gtv.2_Silent_p.E292E|ASPM_uc001gtw.3_Intron	p.E292E	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			3	1133	-			292					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.876G>A	CCDS1389.1																																																																																				0.328	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		4	86	0	0	0	0.000248	0	4	86				
LHX9	56956	broad.mit.edu	37	1	197886998	197886998	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:197886998C>T	ENST00000367387.4	+	1	470	c.45C>T	c.(43-45)ttC>ttT	p.F15F	LHX9_ENST00000337020.2_Silent_p.F15F|LHX9_ENST00000606127.1_Intron|LHX9_ENST00000561173.1_Intron|LHX9_ENST00000367391.1_Intron|LHX9_ENST00000367390.3_Intron	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	15					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CGTGTCCTTTCCGCCCCCCAG	0.592																																							uc001guk.1		NA																	0				ovary(1)	1						c.(43-45)TTC>TTT		LIM homeobox 9 isoform 1							106.0	105.0	105.0					1																	197886998		2203	4300	6503	SO:0001819	synonymous_variant	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197886998C>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.45C>T	1.37:g.197886998C>T						LHX9_uc009wzc.1_Intron|LHX9_uc001gui.1_Intron|LHX9_uc001guj.1_Intron	p.F15F	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			1	482	+			15					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Silent	SNP	ENST00000367387.4	37	c.45C>T	CCDS1393.1																																																																																				0.592	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		6	155	0	0	0	0.001168	0	6	155				
CAMSAP2	23271	broad.mit.edu	37	1	200819231	200819231	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:200819231C>G	ENST00000236925.4	+	12	3416	c.3367C>G	c.(3367-3369)Ctg>Gtg	p.L1123V	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.L1096V|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.L1112V			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1123					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										AAATGTTAATCTGATTGAAGT	0.408																																							uc001gvl.2		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(3367-3369)CTG>GTG		calmodulin regulated spectrin-associated protein							117.0	129.0	125.0					1																	200819231		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200819231C>G	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3367C>G	1.37:g.200819231C>G	ENSP00000236925:p.Leu1123Val					CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.L1112V|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.L1096V	p.L1123V	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			12	3637	+			1123					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.3367C>G		.	.	.	.	.	.	.	.	.	.	C	17.65	3.442442	0.63067	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.30981	1.55;1.51;1.55	5.92	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	M	0.61703	1.905	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.996	T	0.38499	-0.9658	10	0.35671	T	0.21	-15.9395	9.5368	0.39226	0.0:0.7562:0.0:0.2438	.	1096;1123;1112	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	V	1112;1096;1123	ENSP00000351684:L1112V;ENSP00000416800:L1096V;ENSP00000236925:L1123V	ENSP00000236925:L1123V	L	+	1	2	CAMSAP1L1	199085854	0.991000	0.36638	0.999000	0.59377	0.905000	0.53344	1.607000	0.36836	1.514000	0.48869	0.655000	0.94253	CTG		0.408	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		8	142	0	0	0	0.006214	0	8	142				
LAX1	54900	broad.mit.edu	37	1	203743399	203743399	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:203743399C>G	ENST00000442561.2	+	5	1177	c.787C>G	c.(787-789)Cag>Gag	p.Q263E	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.Q247E	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	263					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGGTTCTTCTCAGATCTCAAA	0.488																																							uc001haa.2		NA																	0				central_nervous_system(2)	2						c.(787-789)CAG>GAG		lymphocyte transmembrane adaptor 1 isoform a							74.0	74.0	74.0					1																	203743399		2203	4300	6503	SO:0001583	missense	54900				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	g.chr1:203743399C>G	AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"""LAT-like membrane associated protein"", ""linker for activation of x cells"""					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.787C>G	1.37:g.203743399C>G	ENSP00000406970:p.Gln263Glu					LAX1_uc010pql.1_Missense_Mutation_p.Q247E|LAX1_uc001hab.2_Missense_Mutation_p.Q187E	p.Q263E	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		5	1197	+	all_cancers(21;0.0915)		263			Cytoplasmic (Potential).		B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	ENST00000442561.2	37	c.787C>G	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	C	9.619	1.133376	0.21041	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.32	2.09	0.27110	.	0.337946	0.25795	N	0.028247	T	0.28566	0.0707	L	0.34521	1.04	0.27547	N	0.950612	B;B	0.31705	0.336;0.336	B;B	0.26969	0.075;0.075	T	0.11494	-1.0585	9	0.26408	T	0.33	-8.0877	12.8995	0.58117	0.0:0.4794:0.5206:0.0	.	247;263	B7Z744;Q8IWV1	.;LAX1_HUMAN	E	263;247	.	ENSP00000356186:Q247E	Q	+	1	0	LAX1	202010022	1.000000	0.71417	0.975000	0.42487	0.690000	0.40134	0.826000	0.27407	0.666000	0.31087	0.655000	0.94253	CAG		0.488	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773		3	46	0	0	0	0.004672	0	3	46				
NUAK2	81788	broad.mit.edu	37	1	205290688	205290688	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:205290688C>A	ENST00000367157.3	-	1	195	c.69G>T	c.(67-69)ctG>ctT	p.L23L		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCCCTTCCGCCAGCGGCCGGG	0.682																																							uc001hce.2		NA																	0				ovary(3)|stomach(1)|breast(1)	5						c.(67-69)CTG>CTT		NUAK family, SNF1-like kinase, 2							26.0	31.0	29.0					1																	205290688		2203	4300	6503	SO:0001819	synonymous_variant	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205290688C>A	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.69G>T	1.37:g.205290688C>A							p.L23L	NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		1	196	-	Breast(84;0.186)		23						Silent	SNP	ENST00000367157.3	37	c.69G>T	CCDS1453.1																																																																																				0.682	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		8	52	1	0	0.00307968	0.00308	0.00346341	8	52				
ESRRG	2104	broad.mit.edu	37	1	216850650	216850650	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:216850650G>A	ENST00000408911.3	-	2	393	c.240C>T	c.(238-240)gaC>gaT	p.D80D	ESRRG_ENST00000493748.1_Silent_p.D57D|ESRRG_ENST00000360012.3_Silent_p.D57D|ESRRG_ENST00000493603.1_Silent_p.D57D|ESRRG_ENST00000366937.1_Silent_p.D85D|ESRRG_ENST00000361525.3_Silent_p.D57D|ESRRG_ENST00000463665.1_Silent_p.D57D|ESRRG_ENST00000366940.2_Silent_p.D57D|ESRRG_ENST00000487276.1_Silent_p.D57D|ESRRG_ENST00000359162.2_Silent_p.D57D|ESRRG_ENST00000391890.3_Silent_p.D57D|ESRRG_ENST00000361395.2_Silent_p.D57D|ESRRG_ENST00000366938.2_Silent_p.D57D	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	80					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GAGGTGGCGAGTCAAGTCCGT	0.562																																							uc001hkw.1		NA																	0				ovary(1)|kidney(1)	2						c.(238-240)GAC>GAT		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						170.0	148.0	156.0					1																	216850650		2203	4300	6503	SO:0001819	synonymous_variant	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216850650G>A	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.240C>T	1.37:g.216850650G>A						ESRRG_uc001hky.1_Silent_p.D57D|ESRRG_uc009xdp.1_Silent_p.D57D|ESRRG_uc001hkz.1_Silent_p.D57D|ESRRG_uc010puc.1_Silent_p.D57D|ESRRG_uc001hla.1_Silent_p.D57D|ESRRG_uc001hlb.1_Silent_p.D57D|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Silent_p.D57D|ESRRG_uc001hld.1_Silent_p.D57D|ESRRG_uc001hkx.1_Silent_p.D85D|ESRRG_uc009xdo.1_Silent_p.D57D|ESRRG_uc001hle.1_Silent_p.D57D	p.D80D	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	2	406	-			80					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	ENST00000408911.3	37	c.240C>T	CCDS41468.1																																																																																				0.562	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		22	83	0	0	0	0.001523	0	22	83				
OBSCN	84033	broad.mit.edu	37	1	228432127	228432127	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:228432127G>C	ENST00000422127.1	+	11	3380	c.3336G>C	c.(3334-3336)aaG>aaC	p.K1112N	OBSCN_ENST00000570156.2_Missense_Mutation_p.K1204N|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.K1112N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1112	Ig-like 11.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGATGGGAAGAAGCTGAGCT	0.617																																							uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(3334-3336)AAG>AAC		obscurin, cytoskeletal calmodulin and							93.0	94.0	94.0					1																	228432127		2086	4201	6287	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228432127G>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3336G>C	1.37:g.228432127G>C	ENSP00000409493:p.Lys1112Asn					OBSCN_uc001hsn.2_Missense_Mutation_p.K1112N	p.K1112N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			11	3380	+		Prostate(94;0.0405)	1112			Ig-like 11.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3336G>C	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	9.591	1.126076	0.20959	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.68624	-0.34;-0.34	3.48	3.48	0.39840	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.75034	0.3795	M	0.76433	2.335	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.995;0.989	T	0.73300	-0.4026	10	0.33141	T	0.24	.	4.2536	0.10707	0.3214:0.0:0.6785:0.0	.	1112;1112	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	N	1112	ENSP00000284548:K1112N;ENSP00000409493:K1112N	ENSP00000284548:K1112N	K	+	3	2	OBSCN	226498750	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	1.601000	0.36773	1.766000	0.52107	0.455000	0.32223	AAG		0.617	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		12	132	0	0	0	0.000978	0	12	132				
OBSCN	84033	broad.mit.edu	37	1	228495874	228495874	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:228495874G>T	ENST00000422127.1	+	47	12573	c.12529G>T	c.(12529-12531)Gag>Tag	p.E4177*	OBSCN_ENST00000570156.2_Nonsense_Mutation_p.E5134*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.E1296*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.E4177*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.E1811*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4177	Ig-like 43.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGAGGATGTTGAGTTCAGCTG	0.612																																							uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(12529-12531)GAG>TAG		obscurin, cytoskeletal calmodulin and							90.0	100.0	97.0					1																	228495874		2167	4260	6427	SO:0001587	stop_gained	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228495874G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12529G>T	1.37:g.228495874G>T	ENSP00000409493:p.Glu4177*					OBSCN_uc001hsn.2_Nonsense_Mutation_p.E4177*	p.E4177*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			47	12573	+		Prostate(94;0.0405)	4177			Ig-like 43.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.12529G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	63	71.841967	0.99992	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	.	.	.	6.04	4.2	0.49525	.	0.744348	0.12481	N	0.465152	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	10.9465	0.47304	0.2042:0.0:0.7958:0.0	.	.	.	.	X	4177;4177;1811;1296	.	ENSP00000284548:E4177X	E	+	1	0	OBSCN	226562497	0.038000	0.19896	0.085000	0.20634	0.008000	0.06430	1.097000	0.30988	0.908000	0.36671	-0.253000	0.11424	GAG		0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		33	45	1	0	9.17885e-22	0.003271	1.3134e-21	33	45				
DISC1	27185	broad.mit.edu	37	1	231829772	231829772	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:231829772T>A	ENST00000602281.1	+	2	321	c.268T>A	c.(268-270)Tcg>Acg	p.S90T	DISC1_ENST00000537876.1_Missense_Mutation_p.S90T|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.S90T|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366633.3_Missense_Mutation_p.S90T|DISC1_ENST00000439617.2_Missense_Mutation_p.S90T|DISC1_ENST00000317586.4_Missense_Mutation_p.S90T|DISC1_ENST00000535983.1_Missense_Mutation_p.S90T|DISC1_ENST00000539444.1_Missense_Mutation_p.S90T	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	90	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TGGCCTTGACTCGAGAGGCCT	0.622																																							uc001huz.2		NA																	0		p.S90S(1)		skin(1)	1						c.(268-270)TCG>ACG		disrupted in schizophrenia 1 isoform L							33.0	30.0	31.0					1																	231829772		2203	4300	6503	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231829772T>A	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.268T>A	1.37:g.231829772T>A	ENSP00000473425:p.Ser90Thr					TSNAX-DISC1_uc010pwe.1_Missense_Mutation_p.S45T|TSNAX-DISC1_uc010pwf.1_Missense_Mutation_p.S45T|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.S79T|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.S45T|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.S45T|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.S79T|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.S79T|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Missense_Mutation_p.S90T|DISC1_uc010pwp.1_Missense_Mutation_p.S90T|DISC1_uc010pwq.1_Missense_Mutation_p.S90T|DISC1_uc010pwr.1_Missense_Mutation_p.S90T|DISC1_uc010pws.1_Missense_Mutation_p.S90T|DISC1_uc010pwt.1_Missense_Mutation_p.S90T|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.S90T|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.S90T|DISC1_uc010pxb.1_Missense_Mutation_p.S90T|DISC1_uc010pxc.1_Missense_Mutation_p.S90T|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Missense_Mutation_p.S90T|DISC1_uc009xfr.2_Missense_Mutation_p.S45T|DISC1_uc010pxf.1_Missense_Mutation_p.S90T|DISC1_uc010pxg.1_Missense_Mutation_p.S90T|DISC1_uc010pxh.1_Missense_Mutation_p.S90T|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.S90T|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Missense_Mutation_p.S90T|DISC1_uc010pwm.1_Missense_Mutation_p.S90T|DISC1_uc001hux.1_Missense_Mutation_p.S90T|DISC1_uc001hvc.3_Missense_Mutation_p.S90T|DISC1_uc010pwn.1_Missense_Mutation_p.S90T	p.S90T	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN			2	321	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	90			Interaction with MAP1A.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	c.268T>A	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	T	8.560	0.877568	0.17395	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944	T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	4.4	-0.216	0.13153	.	2.390560	0.01317	N	0.010814	T	0.15912	0.0383	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;P;B;B;B;B;B;P;B;B;B;B;B;B;B;B;B	0.36249	0.027;0.152;0.152;0.241;0.066;0.545;0.152;0.152;0.066;0.152;0.017;0.545;0.241;0.152;0.152;0.152;0.372;0.152;0.152;0.152;0.027	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.32677	0.028;0.068;0.069;0.107;0.068;0.098;0.107;0.107;0.068;0.107;0.012;0.15;0.107;0.107;0.068;0.068;0.15;0.068;0.068;0.068;0.047	T	0.14254	-1.0479	10	0.07030	T	0.85	4.0561	7.4454	0.27209	0.0:0.2984:0.0:0.7016	.	90;90;90;90;90;90;90;90;90;90;90;90;90;90;90;90;90;90;90;90;90	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	T	90	ENSP00000403888:S90T;ENSP00000320784:S90T;ENSP00000355596:S90T;ENSP00000443996:S90T;ENSP00000440909:S90T;ENSP00000355593:S90T;ENSP00000440953:S90T;ENSP00000295051:S90T;ENSP00000441193:S90T	ENSP00000295051:S90T	S	+	1	0	DISC1	229896395	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.303000	0.08210	-0.167000	0.10871	-0.132000	0.14878	TCG		0.622	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		7	33	0	0	0	0.00308	0	7	33				
ZNF496	84838	broad.mit.edu	37	1	247492647	247492647	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:247492647C>T	ENST00000294753.4	-	3	698	c.234G>A	c.(232-234)aaG>aaA	p.K78K	ZNF496_ENST00000366498.2_Silent_p.K78K	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	78	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GAATCTGCTCCTTGGTGTGCC	0.711																																							uc001ico.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(232-234)AAG>AAA		zinc finger protein 496							24.0	29.0	27.0					1																	247492647		2203	4299	6502	SO:0001819	synonymous_variant	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247492647C>T	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.234G>A	1.37:g.247492647C>T						ZNF496_uc009xgv.2_Silent_p.K78K|ZNF496_uc001icp.2_Silent_p.K78K|ZNF496_uc010pyv.1_Silent_p.K78K	p.K78K	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		3	699	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		78			SCAN box.		Q8TBS2	Silent	SNP	ENST00000294753.4	37	c.234G>A	CCDS1631.1																																																																																				0.711	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		11	91	0	0	0	0.008291	0	11	91				
FAM171A1	221061	broad.mit.edu	37	10	15256429	15256429	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:15256429C>T	ENST00000378116.4	-	8	1164	c.1158G>A	c.(1156-1158)gaG>gaA	p.E386E	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	386						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGCCGGGGGCCTCGGGGCGGC	0.607																																							uc001iob.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(1156-1158)GAG>GAA		hypothetical protein LOC221061 precursor							38.0	45.0	43.0					10																	15256429		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15256429C>T	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1158G>A	10.37:g.15256429C>T							p.E386E	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			8	1165	-			386			Cytoplasmic (Potential).		D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.1158G>A	CCDS31154.1																																																																																				0.607	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		9	38	0	0	0	0.004482	0	9	38				
ZEB1	6935	broad.mit.edu	37	10	31815845	31815845	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:31815845C>A	ENST00000320985.10	+	9	3138	c.3028C>A	c.(3028-3030)Cac>Aac	p.H1010N	ZEB1_ENST00000361642.5_Missense_Mutation_p.H1011N|ZEB1_ENST00000560721.2_Missense_Mutation_p.H990N|ZEB1_ENST00000446923.2_Missense_Mutation_p.H994N|ZEB1_ENST00000542815.3_Missense_Mutation_p.H943N			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1010	Glu-rich (acidic).				cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTCGAATGAGCACGTGGGTGC	0.532																																					Ovarian(40;423 959 14296 36701 49589)	Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3		NA																	0				ovary(3)|central_nervous_system(2)	5						c.(3028-3030)CAC>AAC		zinc finger E-box binding homeobox 1 isoform b							78.0	69.0	72.0					10																	31815845		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31815845C>A	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.3028C>A	10.37:g.31815845C>A	ENSP00000319248:p.His1010Asn					ZEB1_uc001ivr.3_Missense_Mutation_p.H792N|ZEB1_uc010qee.1_Missense_Mutation_p.H792N|ZEB1_uc010qef.1_Missense_Mutation_p.H792N|ZEB1_uc001ivt.3_Missense_Mutation_p.H792N|ZEB1_uc001ivu.3_Missense_Mutation_p.H1011N|ZEB1_uc001ivv.3_Missense_Mutation_p.H990N|ZEB1_uc010qeh.1_Missense_Mutation_p.H943N|ZEB1_uc009xlp.2_Missense_Mutation_p.H994N	p.H1010N	NM_030751	NP_110378	P37275	ZEB1_HUMAN			9	3091	+		Prostate(175;0.0156)	1010			Glu-rich (acidic).		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.3028C>A	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	3.464	-0.109275	0.06924	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.12361	3.0;2.69;2.72;2.69;2.74	4.76	4.76	0.60689	.	1.989150	0.02623	N	0.103408	T	0.15132	0.0365	N	0.19112	0.55	0.36046	D	0.840454	B;B;B;B;B	0.25904	0.137;0.0;0.0;0.001;0.0	B;B;B;B;B	0.33960	0.173;0.0;0.001;0.0;0.0	T	0.06006	-1.0851	10	0.27785	T	0.31	-0.2063	12.8159	0.57665	0.1636:0.8364:0.0:0.0	.	943;994;990;1011;1010	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	N	792;1010;1011;1005;943;1010;990;901;994	ENSP00000444282:H792N;ENSP00000354487:H1011N;ENSP00000444891:H943N;ENSP00000319248:H1010N;ENSP00000391612:H994N	ENSP00000319248:H1010N	H	+	1	0	ZEB1	31855851	0.989000	0.36119	0.416000	0.26546	0.017000	0.09413	2.861000	0.48380	2.201000	0.70794	0.557000	0.71058	CAC		0.532	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		10	28	1	0	0.000442599	0.006214	0.000515877	10	28				
ANKRD30A	91074	broad.mit.edu	37	10	37451585	37451585	+	Missense_Mutation	SNP	G	G	T	rs373828826		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:37451585G>T	ENST00000602533.1	+	16	1840	c.1741G>T	c.(1741-1743)Ggg>Tgg	p.G581W	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.G581W|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G581W			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	637					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAGCCTCCGGGGAAGCCATC	0.318																																							uc001iza.1		NA																	0				ovary(7)|breast(1)|skin(1)	9						c.(1741-1743)GGG>TGG		ankyrin repeat domain 30A							182.0	150.0	160.0					10																	37451585		1821	4076	5897	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37451585G>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1741G>T	10.37:g.37451585G>T	ENSP00000473551:p.Gly581Trp						p.G581W	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			16	1840	+			637					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1741G>T		.	.	.	.	.	.	.	.	.	.	.	5.789	0.329902	0.10956	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06849	3.25;3.25	0.731	0.731	0.18277	.	.	.	.	.	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	D	0.58620	0.983	P	0.49853	0.624	T	0.34601	-0.9822	9	0.72032	D	0.01	.	4.8967	0.13753	0.0:0.0:1.0:0.0	.	637	Q9BXX3	AN30A_HUMAN	W	581	ENSP00000354432:G581W;ENSP00000363792:G581W	ENSP00000354432:G581W	G	+	1	0	ANKRD30A	37491591	0.472000	0.25870	0.217000	0.23759	0.078000	0.17371	0.145000	0.16157	0.695000	0.31675	0.089000	0.15464	GGG		0.318	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		16	65	1	0	6.94344e-10	0.006122	9.29313e-10	16	65				
NODAL	4838	broad.mit.edu	37	10	72195563	72195563	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:72195563C>T	ENST00000287139.3	-	2	369	c.370G>A	c.(370-372)Gct>Act	p.A124T	AC022532.1_ENST00000420338.2_3'UTR	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	124					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						CTGTCTGAAGCCTGCTCTGTG	0.567																																							uc001jrc.2		NA																	0				large_intestine(1)|kidney(1)	2						c.(370-372)GCT>ACT		nodal precursor							71.0	63.0	66.0					10																	72195563		2203	4300	6503	SO:0001583	missense	4838				growth	extracellular space	cytokine activity|growth factor activity	g.chr10:72195563C>T	BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"""nodal, mouse, homolog"", ""nodal homolog (mouse)"""			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.370G>A	10.37:g.72195563C>T	ENSP00000287139:p.Ala124Thr						p.A124T	NM_018055	NP_060525	Q96S42	NODAL_HUMAN			2	412	-			124					Q2M3A5|Q8N4V3	Missense_Mutation	SNP	ENST00000287139.3	37	c.370G>A	CCDS7304.1	.	.	.	.	.	.	.	.	.	.	C	0.847	-0.740018	0.03088	.	.	ENSG00000156574	ENST00000287139;ENST00000414871	D;D	0.84589	-1.87;-1.86	5.46	2.38	0.29361	Transforming growth factor-beta, N-terminal (1);	0.589038	0.17901	N	0.158162	T	0.65450	0.2692	N	0.08118	0	0.09310	N	1	B	0.32653	0.379	B	0.31390	0.129	T	0.54543	-0.8278	10	0.19147	T	0.46	.	6.5164	0.22250	0.0:0.6653:0.1554:0.1793	.	124	Q96S42	NODAL_HUMAN	T	124;69	ENSP00000287139:A124T;ENSP00000394468:A69T	ENSP00000287139:A124T	A	-	1	0	NODAL	71865569	0.000000	0.05858	0.023000	0.16930	0.051000	0.14879	0.442000	0.21628	0.845000	0.35118	0.655000	0.94253	GCT		0.567	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048511.1	NM_018055		16	49	0	0	0	0.00499	0	16	49				
PIPSL	266971	broad.mit.edu	37	10	95720287	95720287	+	RNA	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:95720287G>A	ENST00000480546.1	-	0	1010					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										ATTGTGTTTCGCTGCTTAAGG	0.488																																							uc009xuj.2		NA																	0					0						c.(865-867)AGC>AGT		RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha;          Short=PtdIns(4)P-5-kinase alpha;          Short=PIP5KIalpha;          EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha;																																						266971							g.chr10:95720287G>A	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720287G>A							p.S289S	NR_002319						1	1386	-								Q6NUK8	Silent	SNP	ENST00000480546.1	37	c.867C>T																																																																																					0.488	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		6	55	0	0	0	0.001984	0	6	55				
NFKB2	4791	broad.mit.edu	37	10	104161068	104161068	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:104161068G>A	ENST00000369966.3	+	19	2453	c.2203G>A	c.(2203-2205)Gac>Aac	p.D735N	NFKB2_ENST00000428099.1_Missense_Mutation_p.D735N|NFKB2_ENST00000189444.6_Missense_Mutation_p.D735N	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	735			Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT).		extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CACGCCTCTTGACCTCACTTG	0.597			T	IGH@	B-NHL																																		uc001kvb.2		NA		Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				lung(3)	3						c.(2203-2205)GAC>AAC		nuclear factor of kappa light polypeptide gene							71.0	75.0	74.0					10																	104161068		2027	4190	6217	SO:0001583	missense	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104161068G>A	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.2203G>A	10.37:g.104161068G>A	ENSP00000358983:p.Asp735Asn					NFKB2_uc001kva.2_Missense_Mutation_p.D735N|NFKB2_uc001kvd.2_Missense_Mutation_p.D735N|NFKB2_uc009xxc.2_Missense_Mutation_p.D735N	p.D735N	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	19	2468	+		Colorectal(252;0.00957)	735		Missing (in truncated form p80HT).|Missing (in truncated form LB40).|Missing (in truncated form EB308).	ANK 7.		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	c.2203G>A	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	g	26.8	4.770656	0.90108	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.43294	0.95;0.97;0.95	4.43	3.53	0.40419	Ankyrin repeat-containing domain (1);	0.106398	0.64402	N	0.000010	T	0.56321	0.1977	L	0.59436	1.845	0.42845	D	0.994064	B;D	0.69078	0.012;0.997	B;D	0.77004	0.006;0.989	T	0.57849	-0.7740	10	0.59425	D	0.04	.	9.5625	0.39378	0.0993:0.0:0.9007:0.0	.	735;735	Q00653;A8K9D9	NFKB2_HUMAN;.	N	735	ENSP00000410256:D735N;ENSP00000358983:D735N;ENSP00000189444:D735N	ENSP00000189444:D735N	D	+	1	0	NFKB2	104151058	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.602000	0.46257	1.218000	0.43458	0.556000	0.70494	GAC		0.597	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			10	59	0	0	0	0.008291	0	10	59				
EIF3A	8661	broad.mit.edu	37	10	120802184	120802184	+	Missense_Mutation	SNP	G	G	A	rs200680965		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:120802184G>A	ENST00000369144.3	-	19	2975	c.2848C>T	c.(2848-2850)Ctt>Ttt	p.L950F	EIF3A_ENST00000541549.1_Missense_Mutation_p.L916F	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	117					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCTGGTCTAAGAGAGGGCTCT	0.582																																							uc001ldu.2		NA																	0					0						c.(2848-2850)CTT>TTT		eukaryotic translation initiation factor 3,							126.0	131.0	130.0					10																	120802184		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120802184G>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2848C>T	10.37:g.120802184G>A	ENSP00000358140:p.Leu950Phe					EIF3A_uc010qsu.1_Missense_Mutation_p.L916F|EIF3A_uc009xzg.1_5'UTR	p.L950F	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	2994	-		Lung NSC(174;0.094)|all_lung(145;0.123)	950			3.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.2848C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	5.315	0.243478	0.10077	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.23552	1.9;1.91	5.44	-0.401	0.12407	.	0.774355	0.10572	N	0.659055	T	0.25121	0.0610	L	0.51422	1.61	0.09310	N	1	B	0.25169	0.119	B	0.24269	0.052	T	0.35773	-0.9775	10	0.09590	T	0.72	-1.4949	19.7977	0.96492	0.0:0.5703:0.4297:0.0	.	950	Q14152	EIF3A_HUMAN	F	950;916	ENSP00000358140:L950F;ENSP00000438178:L916F	ENSP00000358140:L950F	L	-	1	0	EIF3A	120792174	0.000000	0.05858	0.000000	0.03702	0.256000	0.26092	-0.256000	0.08757	0.115000	0.18071	0.650000	0.86243	CTT		0.582	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		23	135	0	0	0	0.001882	0	23	135				
MMP21	118856	broad.mit.edu	37	10	127461230	127461230	+	Missense_Mutation	SNP	C	C	T	rs200358739		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:127461230C>T	ENST00000368808.3	-	3	786	c.787G>A	c.(787-789)Gac>Aac	p.D263N		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	263			D -> E (in dbSNP:rs34811493).		hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	AAGTGCTCGTCGTCGTCAAAG	0.622																																							uc001liu.2		NA																	0				ovary(2)	2						c.(787-789)GAC>AAC		matrix metalloproteinase 21 preproprotein							157.0	132.0	141.0					10																	127461230		2203	4300	6503	SO:0001583	missense	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127461230C>T	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.787G>A	10.37:g.127461230C>T	ENSP00000357798:p.Asp263Asn						p.D263N	NM_147191	NP_671724	Q8N119	MMP21_HUMAN			3	787	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	263					Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	c.787G>A	CCDS7647.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	18.32	3.597148	0.66332	.	.	ENSG00000154485	ENST00000368808	T	0.28454	1.61	4.51	4.51	0.55191	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.110490	0.64402	D	0.000018	T	0.61751	0.2372	M	0.90759	3.145	0.58432	D	0.999998	D	0.89917	1.0	D	0.75020	0.985	T	0.70985	-0.4723	10	0.72032	D	0.01	-20.7067	14.7847	0.69793	0.0:1.0:0.0:0.0	.	263	Q8N119	MMP21_HUMAN	N	263	ENSP00000357798:D263N	ENSP00000357798:D263N	D	-	1	0	MMP21	127451220	0.998000	0.40836	0.207000	0.23584	0.065000	0.16274	4.532000	0.60608	2.350000	0.79820	0.561000	0.74099	GAC		0.622	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			10	50	0	0	0	0.008291	0	10	50				
CFAP46	54777	broad.mit.edu	37	10	134648863	134648863	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:134648863C>T	ENST00000368586.5	-	47	6789	c.6689G>A	c.(6688-6690)cGg>cAg	p.R2230Q	TTC40_ENST00000263170.5_Missense_Mutation_p.R391Q	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGTCTGCTTCCGGAACTGCTG	0.637																																							uc010qux.1		NA																	0					NA						c.(5866-5868)CGG>CAG		Homo sapiens cDNA, FLJ17989.							103.0	76.0	85.0					10																	134648863		2203	4300	6503	SO:0001583	missense	0							g.chr10:134648863C>T																												ENST00000368586.5:c.6689G>A	10.37:g.134648863C>T	ENSP00000357575:p.Arg2230Gln						p.R1956Q	NM_017609	NP_060079					39	5867	-									Missense_Mutation	SNP	ENST00000368586.5	37	c.5867G>A	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648664	0.29336	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.13307	2.83;2.6	3.33	-4.06	0.03986	.	2.059570	0.02285	N	0.069793	T	0.09069	0.0224	L	0.46157	1.445	0.09310	N	1	P	0.42584	0.784	B	0.26202	0.067	T	0.35649	-0.9780	10	0.45353	T	0.12	.	4.657	0.12622	0.1623:0.2875:0.0:0.5502	.	391	Q8IYW2	CJ092_HUMAN	Q	2230;391	ENSP00000357575:R2230Q;ENSP00000263170:R391Q	ENSP00000263170:R391Q	R	-	2	0	C10orf93	134498853	0.000000	0.05858	0.016000	0.15963	0.028000	0.11728	-0.900000	0.04097	-0.799000	0.04439	-0.391000	0.06502	CGG		0.637	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			7	62	0	0	0	0.001984	0	7	62				
IRF7	3665	broad.mit.edu	37	11	612770	612770	+	Missense_Mutation	SNP	C	C	G	rs375003348		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:612770C>G	ENST00000397574.2	-	11	1756	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q	IRF7_ENST00000525445.1_Missense_Mutation_p.E357Q|IRF7_ENST00000397570.1_Missense_Mutation_p.E434Q|IRF7_ENST00000397562.3_Missense_Mutation_p.E170Q|IRF7_ENST00000330243.5_Missense_Mutation_p.E476Q|IRF7_ENST00000348655.6_Missense_Mutation_p.E434Q|IRF7_ENST00000397566.1_Missense_Mutation_p.E476Q	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	463					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCGTGCCCTCTAGGTGCACT	0.647																																							uc001lqh.2		NA																	0					0						c.(1387-1389)GAG>CAG		interferon regulatory factor 7 isoform a							53.0	55.0	55.0					11																	612770		2203	4300	6503	SO:0001583	missense	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:612770C>G	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.1387G>C	11.37:g.612770C>G	ENSP00000380704:p.Glu463Gln					IRF7_uc009ycb.2_Missense_Mutation_p.E357Q|IRF7_uc010qwf.1_Missense_Mutation_p.E462Q|IRF7_uc001lqf.2_Missense_Mutation_p.E170Q|IRF7_uc010qwg.1_Missense_Mutation_p.E170Q|IRF7_uc001lqg.2_Missense_Mutation_p.E476Q|IRF7_uc001lqi.2_Missense_Mutation_p.E434Q|IRF7_uc010qwh.1_Missense_Mutation_p.E170Q	p.E463Q	NM_001572	NP_001563	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	11	1757	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	463					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Missense_Mutation	SNP	ENST00000397574.2	37	c.1387G>C	CCDS7703.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431687	0.43122	.	.	ENSG00000185507	ENST00000525445;ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000397562;ENST00000330243	D;D;D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63;-3.63;-3.63	4.23	3.3	0.37823	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.232414	0.35646	N	0.003067	D	0.96565	0.8879	M	0.83774	2.66	0.38763	D	0.954378	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.998	D	0.96549	0.9406	10	0.66056	D	0.02	-27.4412	8.7724	0.34740	0.0:0.8913:0.0:0.1087	.	357;434;463;476	E9PSE3;Q92985-2;Q92985;Q92985-4	.;.;IRF7_HUMAN;.	Q	357;434;434;476;463;170;476	ENSP00000434009:E357Q;ENSP00000331803:E434Q;ENSP00000380700:E434Q;ENSP00000380697:E476Q;ENSP00000380704:E463Q;ENSP00000380693:E170Q;ENSP00000329411:E476Q	ENSP00000329411:E476Q	E	-	1	0	IRF7	602770	0.972000	0.33761	0.064000	0.19789	0.009000	0.06853	2.070000	0.41491	2.088000	0.63022	0.462000	0.41574	GAG		0.647	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		3	40	0	0	0	0.004672	0	3	40				
RRP8	23378	broad.mit.edu	37	11	6622800	6622800	+	Missense_Mutation	SNP	C	C	T	rs142207265		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:6622800C>T	ENST00000254605.6	-	3	613	c.496G>A	c.(496-498)Gat>Aat	p.D166N	ILK_ENST00000396751.2_5'Flank|ILK_ENST00000420936.2_5'Flank|ILK_ENST00000299421.4_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|RRP8_ENST00000534343.1_Intron|ILK_ENST00000537806.1_5'Flank|ILK_ENST00000528995.1_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	166					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						TTTGGTGGATCATTTGTAGTA	0.512																																							uc001med.2		NA																	0					0						c.(496-498)GAT>AAT		ribosomal RNA processing 8, methyltransferase,							104.0	100.0	102.0					11																	6622800		2201	4296	6497	SO:0001583	missense	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6622800C>T	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.496G>A	11.37:g.6622800C>T	ENSP00000254605:p.Asp166Asn					ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	p.D166N	NM_015324	NP_056139	O43159	RRP8_HUMAN			3	575	-			166					Q7KZ78|Q9BVM6	Missense_Mutation	SNP	ENST00000254605.6	37	c.496G>A	CCDS31411.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440495	0.43326	.	.	ENSG00000132275	ENST00000254605;ENST00000533907	T;T	0.47528	1.49;0.84	5.56	2.53	0.30540	.	0.473853	0.22979	N	0.053338	T	0.30823	0.0777	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.13683	-1.0500	10	0.32370	T	0.25	-14.851	6.4141	0.21708	0.0:0.6765:0.1513:0.1722	.	166	O43159	RRP8_HUMAN	N	166	ENSP00000254605:D166N;ENSP00000436246:D166N	ENSP00000254605:D166N	D	-	1	0	RRP8	6579376	0.002000	0.14202	0.007000	0.13788	0.015000	0.08874	0.383000	0.20651	0.837000	0.34925	0.655000	0.94253	GAT		0.512	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		6	78	0	0	0	0.001168	0	6	78				
EIF4G2	1982	broad.mit.edu	37	11	10822547	10822547	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:10822547C>T	ENST00000526148.1	-	15	2011	c.1501G>A	c.(1501-1503)Gca>Aca	p.A501T	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.A501T|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.A501T|EIF4G2_ENST00000396525.2_Missense_Mutation_p.A463T	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGTGGTTGTGCACTAGGAGGA	0.418																																							uc001mjc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1501-1503)GCA>ACA		eukaryotic translation initiation factor 4							230.0	211.0	218.0					11																	10822547		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10822547C>T	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1501G>A	11.37:g.10822547C>T	ENSP00000433664:p.Ala501Thr					EIF4G2_uc001mjb.2_Missense_Mutation_p.A295T|EIF4G2_uc009ygf.2_Missense_Mutation_p.A295T|EIF4G2_uc001mjd.2_Missense_Mutation_p.A463T|EIF4G2_uc001mjf.1_Missense_Mutation_p.A257T	p.A501T	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	15	1918	-			501						Missense_Mutation	SNP	ENST00000526148.1	37	c.1501G>A	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981253	0.74474	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531180	T;T;T;T;T	0.49139	2.2;2.2;2.2;2.2;0.79	5.92	5.92	0.95590	.	0.098829	0.64402	D	0.000001	T	0.31263	0.0791	N	0.16478	0.41	0.37114	D	0.900489	P;P;P	0.41450	0.75;0.634;0.634	B;B;B	0.36808	0.233;0.168;0.223	T	0.21861	-1.0233	9	0.09590	T	0.72	-7.388	18.5012	0.90882	0.0:1.0:0.0:0.0	.	463;501;574	P78344-2;P78344;B4DZF2	.;IF4G2_HUMAN;.	T	501;501;501;463;574;6	ENSP00000433664:A501T;ENSP00000433371:A501T;ENSP00000340281:A501T;ENSP00000379778:A463T;ENSP00000433561:A6T	ENSP00000340281:A501T	A	-	1	0	EIF4G2	10779123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.618000	0.61211	2.809000	0.96659	0.655000	0.94253	GCA		0.418	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		8	63	0	0	0	0.004482	0	8	63				
MRGPRX1	259249	broad.mit.edu	37	11	18955453	18955453	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:18955453C>A	ENST00000302797.3	-	1	1103	c.879G>T	c.(877-879)agG>agT	p.R293S	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	293					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			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						CCTGCAGAGCCCTCTGGAGAA	0.552																																							uc001mpg.2		NA																	0				pancreas(2)|central_nervous_system(1)	3						c.(877-879)AGG>AGT		MAS-related GPR, member X1							68.0	65.0	66.0					11																	18955453		2194	4286	6480	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955453C>A		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.879G>T	11.37:g.18955453C>A	ENSP00000305766:p.Arg293Ser						p.R293S	NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN			1	1097	-			293			Cytoplasmic (Potential).		Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.879G>T	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	13.90	2.376430	0.42105	.	.	ENSG00000170255	ENST00000302797	T	0.22539	1.95	2.28	1.32	0.21799	.	0.169882	0.40908	D	0.000994	T	0.23249	0.0562	M	0.85462	2.755	0.19300	N	0.999973	P	0.41313	0.745	B	0.39419	0.299	T	0.12477	-1.0546	10	0.39692	T	0.17	.	3.8117	0.08799	0.0:0.5911:0.2529:0.1559	.	293	Q96LB2	MRGX1_HUMAN	S	293	ENSP00000305766:R293S	ENSP00000305766:R293S	R	-	3	2	MRGPRX1	18912029	0.030000	0.19436	0.977000	0.42913	0.659000	0.38960	0.073000	0.14640	0.486000	0.27676	0.491000	0.48974	AGG		0.552	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		12	66	1	0	1.08611e-07	0.000978	1.38518e-07	12	66				
MPPED2	744	broad.mit.edu	37	11	30557637	30557637	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:30557637C>A	ENST00000358117.5	-	2	336	c.214G>T	c.(214-216)Ggt>Tgt	p.G72C	MPPED2_ENST00000448418.2_Missense_Mutation_p.G72C	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	72					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.G72C(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						ATCTGGATACCATCTGTTCTG	0.502																																							uc001msr.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(214-216)GGT>TGT		metallophosphoesterase domain containing 2							122.0	117.0	119.0					11																	30557637		2202	4299	6501	SO:0001583	missense	744				nervous system development		hydrolase activity|metal ion binding	g.chr11:30557637C>A	U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.214G>T	11.37:g.30557637C>A	ENSP00000350833:p.Gly72Cys					MPPED2_uc001msq.3_Missense_Mutation_p.G72C|MPPED2_uc009yji.2_5'UTR	p.G72C	NM_001584	NP_001575	Q15777	MPPD2_HUMAN			2	334	-			72					D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	ENST00000358117.5	37	c.214G>T	CCDS7870.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903785	0.72754	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	T;T	0.42131	0.98;0.98	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.49712	0.1573	L	0.55743	1.74	0.80722	D	1	D;P	0.56035	0.974;0.945	P;P	0.48063	0.491;0.565	T	0.35051	-0.9804	10	0.37606	T	0.19	-5.3042	20.5827	0.99408	0.0:1.0:0.0:0.0	.	72;72	Q15777;E9PB10	MPPD2_HUMAN;.	C	72	ENSP00000388258:G72C;ENSP00000350833:G72C	ENSP00000350833:G72C	G	-	1	0	MPPED2	30514213	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	GGT		0.502	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584		13	21	1	0	4.3838e-07	0.001855	5.57075e-07	13	21				
RAG1	5896	broad.mit.edu	37	11	36596541	36596541	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:36596541G>T	ENST00000299440.5	+	2	1799	c.1687G>T	c.(1687-1689)Gat>Tat	p.D563Y		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	563					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GTTCCGCTATGATTCAGCTTT	0.473									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	0				ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(1687-1689)GAT>TAT		recombination activating gene 1							111.0	94.0	100.0					11																	36596541		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596541G>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1687G>T	11.37:g.36596541G>T	ENSP00000299440:p.Asp563Tyr					RAG1_uc001mwt.2_RNA	p.D563Y	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	1811	+	all_lung(20;0.226)	all_hematologic(20;0.107)	563					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.1687G>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004277	0.54254	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.88586	-2.4;-2.4	5.81	4.9	0.64082	.	0.129868	0.56097	D	0.000032	D	0.96216	0.8766	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97362	0.9970	10	0.87932	D	0	.	14.6782	0.68998	0.0695:0.0:0.9305:0.0	.	563	P15918	RAG1_HUMAN	Y	563	ENSP00000434610:D563Y;ENSP00000299440:D563Y	ENSP00000299440:D563Y	D	+	1	0	RAG1	36553117	1.000000	0.71417	0.072000	0.20136	0.931000	0.56810	9.476000	0.97823	1.464000	0.47987	0.644000	0.83932	GAT		0.473	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		8	42	1	0	0.00621372	0.006214	0.00694358	8	42				
GYLTL1B	120071	broad.mit.edu	37	11	45949867	45949867	+	Missense_Mutation	SNP	C	C	T	rs150478912		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:45949867C>T	ENST00000531526.1	+	13	2005	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C	GYLTL1B_ENST00000325468.5_Missense_Mutation_p.R632C|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.R601C|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.R632C|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.R601C	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	632					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CTATGATCCTCGCTTTGTGGG	0.627																																							uc001nbv.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1894-1896)CGC>TGC		glycosyltransferase-like 1B		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	159.0	156.0	157.0		1894	5.6	1.0	11	dbSNP_134	157	1,8597	1.2+/-3.3	0,1,4298	yes	missense	GYLTL1B	NM_152312.3	180	0,3,6499	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	632/722	45949867	3,13001	2203	4299	6502	SO:0001583	missense	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45949867C>T		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1894C>T	11.37:g.45949867C>T	ENSP00000432869:p.Arg632Cys					GYLTL1B_uc001nbw.1_Missense_Mutation_p.R601C|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R632C|GYLTL1B_uc001nby.1_Missense_Mutation_p.R315C|GYLTL1B_uc001nbz.1_Intron	p.R632C	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	13	2005	+			632			Lumenal (Potential).		A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	c.1894C>T	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494965	0.85069	4.54E-4	1.16E-4	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000325468;ENST00000536139	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.67524	0.2902	H	0.95402	3.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.993	T	0.77446	-0.2585	10	0.87932	D	0	-29.3598	14.9392	0.70980	0.2112:0.7888:0.0:0.0	.	601;601;632	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	C	601;632;632;632;601	ENSP00000431932:R601C;ENSP00000432869:R632C;ENSP00000385235:R632C;ENSP00000324570:R632C;ENSP00000445044:R601C	ENSP00000324570:R632C	R	+	1	0	GYLTL1B	45906443	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	2.266000	0.43320	2.610000	0.88304	0.561000	0.74099	CGC		0.627	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		18	153	0	0	0	0.007413	0	18	153				
LRP4	4038	broad.mit.edu	37	11	46911554	46911554	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:46911554C>T	ENST00000378623.1	-	15	2275	c.2033G>A	c.(2032-2034)cGc>cAc	p.R678H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	678					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GAGTTTGTTGCGAATGATTTC	0.517											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001ndn.3		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(2032-2034)CGC>CAC		low density lipoprotein receptor-related protein							301.0	263.0	276.0					11																	46911554		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46911554C>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2033G>A	11.37:g.46911554C>T	ENSP00000367888:p.Arg678His		OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942		p.R678H	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	15	2179	-			678			Extracellular (Potential).|LDL-receptor class B 5.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.2033G>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269879	0.59540	.	.	ENSG00000134569	ENST00000378623	D	0.91464	-2.85	6.03	6.03	0.97812	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.104174	0.64402	D	0.000002	D	0.84977	0.5592	L	0.28458	0.855	0.80722	D	1	B	0.17465	0.022	B	0.12837	0.008	T	0.79374	-0.1830	10	0.05959	T	0.93	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	678	O75096	LRP4_HUMAN	H	678	ENSP00000367888:R678H	ENSP00000367888:R678H	R	-	2	0	LRP4	46868130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.999000	0.70665	2.861000	0.98227	0.655000	0.94253	CGC		0.517	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		14	82	0	0	0	0.001855	0	14	82				
MADD	8567	broad.mit.edu	37	11	47306564	47306564	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:47306564C>T	ENST00000311027.5	+	13	2395	c.2230C>T	c.(2230-2232)Ccc>Tcc	p.P744S	MADD_ENST00000402799.1_Missense_Mutation_p.P744S|MADD_ENST00000406482.1_Missense_Mutation_p.P744S|MADD_ENST00000395336.3_Missense_Mutation_p.P744S|MADD_ENST00000395344.3_Missense_Mutation_p.P744S|MADD_ENST00000342922.4_Missense_Mutation_p.P744S|MADD_ENST00000407859.3_Missense_Mutation_p.P744S|MADD_ENST00000349238.3_Missense_Mutation_p.P744S|MADD_ENST00000402192.2_Missense_Mutation_p.P744S	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TTCCGTGCCTCCCAGCATTGG	0.532																																							uc001ner.1		NA																	0		p.P744L(1)		ovary(5)|skin(4)|central_nervous_system(2)	11						c.(2230-2232)CCC>TCC		MAP-kinase activating death domain-containing							81.0	79.0	80.0					11																	47306564		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47306564C>T	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2230C>T	11.37:g.47306564C>T	ENSP00000310933:p.Pro744Ser					MADD_uc001neq.2_Missense_Mutation_p.P744S|MADD_uc001nev.1_Missense_Mutation_p.P744S|MADD_uc001nes.1_Missense_Mutation_p.P744S|MADD_uc001net.1_Missense_Mutation_p.P744S|MADD_uc009yln.1_Missense_Mutation_p.P744S|MADD_uc001neu.1_Missense_Mutation_p.P744S|MADD_uc001nex.2_Missense_Mutation_p.P744S|MADD_uc001nez.2_Missense_Mutation_p.P744S|MADD_uc001new.2_Missense_Mutation_p.P744S	p.P744S	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	13	2421	+			744						Missense_Mutation	SNP	ENST00000311027.5	37	c.2230C>T	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981960	0.53827	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.05580	3.52;3.42;3.42;3.59;3.59;3.45;3.42;3.59;3.52	5.88	5.88	0.94601	.	0.054861	0.85682	D	0.000000	T	0.10380	0.0254	M	0.67953	2.075	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.16166	0.016;0.005;0.001;0.014;0.014;0.004;0.001;0.008;0.0;0.001	B;B;B;B;B;B;B;B;B;B	0.15052	0.011;0.005;0.009;0.008;0.008;0.008;0.007;0.012;0.002;0.004	T	0.03103	-1.1072	10	0.37606	T	0.19	-15.6634	14.3978	0.67022	0.0:0.9299:0.0:0.0701	.	744;744;744;744;744;744;744;744;744;744	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	S	744	ENSP00000343902:P744S;ENSP00000385585:P744S;ENSP00000384435:P744S;ENSP00000304505:P744S;ENSP00000310933:P744S;ENSP00000384204:P744S;ENSP00000378753:P744S;ENSP00000378745:P744S;ENSP00000384287:P744S	ENSP00000310933:P744S	P	+	1	0	MADD	47263140	0.578000	0.26717	1.000000	0.80357	0.989000	0.77384	0.101000	0.15251	2.782000	0.95742	0.655000	0.94253	CCC		0.532	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			14	63	0	0	0	0.001855	0	14	63				
MTCH2	23788	broad.mit.edu	37	11	47653245	47653245	+	Missense_Mutation	SNP	C	C	A	rs201087705		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:47653245C>A	ENST00000302503.3	-	6	545	c.388G>T	c.(388-390)Gct>Tct	p.A130S	MTCH2_ENST00000542981.1_Intron|MTCH2_ENST00000534074.1_5'Flank	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	130					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GCAGAACGAGCGATCATCTCT	0.428																																							uc010rho.1		NA																	0					0						c.(388-390)GCT>TCT		mitochondrial carrier 2							170.0	137.0	148.0					11																	47653245		2201	4298	6499	SO:0001583	missense	23788				transport	integral to membrane|mitochondrial inner membrane		g.chr11:47653245C>A	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"""Solute carriers"""	17587	protein-coding gene	gene with protein product	"""solute carrier family 25, member 50"""	613221	"""mitochondrial carrier homolog 2 (C. elegans)"""				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.388G>T	11.37:g.47653245C>A	ENSP00000303222:p.Ala130Ser					MTCH2_uc001nge.2_Missense_Mutation_p.A3S|MTCH2_uc010rhp.1_Intron	p.A130S	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN			6	577	-			130			Solcar 2.		B2R7L8	Missense_Mutation	SNP	ENST00000302503.3	37	c.388G>T	CCDS7943.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528156	0.85706	.	.	ENSG00000109919	ENST00000302503;ENST00000530428;ENST00000530558	D;D	0.86497	-2.13;-2.13	5.71	5.71	0.89125	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.92496	0.7617	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.91547	0.5254	10	0.44086	T	0.13	.	18.6391	0.91389	0.0:1.0:0.0:0.0	.	130	Q9Y6C9	MTCH2_HUMAN	S	130;121;109	ENSP00000303222:A130S;ENSP00000432043:A121S	ENSP00000303222:A130S	A	-	1	0	MTCH2	47609821	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.289000	0.72696	2.709000	0.92574	0.655000	0.94253	GCT		0.428	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342		11	51	1	0	6.40141e-05	0.000978	7.66427e-05	11	51				
FOLH1	2346	broad.mit.edu	37	11	49196483	49196483	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:49196483A>C	ENST00000256999.2	-	9	1326	c.1066T>G	c.(1066-1068)Tac>Gac	p.Y356D	FOLH1_ENST00000533034.1_Missense_Mutation_p.Y341D|FOLH1_ENST00000340334.7_Missense_Mutation_p.Y341D|FOLH1_ENST00000343844.4_Missense_Mutation_p.Y48D|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000356696.3_Missense_Mutation_p.Y356D	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	356	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	ATCACATTGTAAATTCTTGTC	0.348																																							uc001ngy.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1066-1068)TAC>GAC		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						85.0	103.0	97.0					11																	49196483		2201	4295	6496	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49196483A>C	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1066T>G	11.37:g.49196483A>C	ENSP00000256999:p.Tyr356Asp					FOLH1_uc001ngz.2_Missense_Mutation_p.Y356D|FOLH1_uc009yly.2_Missense_Mutation_p.Y341D|FOLH1_uc009ylz.2_Missense_Mutation_p.Y341D|FOLH1_uc009yma.2_Missense_Mutation_p.Y48D	p.Y356D	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			9	1327	-			356			NAALADase.|Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.1066T>G	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.117658	0.56505	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034;ENST00000389724	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.98;0.92	4.54	4.54	0.55810	.	0.000000	0.56097	D	0.000033	T	0.68632	0.3022	M	0.90650	3.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.87578	0.996;0.998;0.974;0.969	T	0.75196	-0.3403	10	0.66056	D	0.02	.	11.8596	0.52459	1.0:0.0:0.0:0.0	.	341;341;356;356	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	D	356;356;341;48;341;356	ENSP00000256999:Y356D;ENSP00000349129:Y356D;ENSP00000344131:Y341D;ENSP00000344086:Y48D;ENSP00000431463:Y341D	ENSP00000256999:Y356D	Y	-	1	0	FOLH1	49153059	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	7.629000	0.83207	1.900000	0.55004	0.418000	0.28097	TAC		0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		7	39	0	0	0	0.00308	0	7	39				
OR4A15	81328	broad.mit.edu	37	11	55136241	55136241	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:55136241C>A	ENST00000314706.3	+	1	882	c.882C>A	c.(880-882)ccC>ccA	p.P294P		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P294P(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTACTTTTCCCATTGATAAAT	0.403																																							uc010rif.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(880-882)CCC>CCA		olfactory receptor, family 4, subfamily A,							253.0	250.0	251.0					11																	55136241		2201	4296	6497	SO:0001819	synonymous_variant	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136241C>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.882C>A	11.37:g.55136241C>A							p.P294P	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	882	+			294			Extracellular (Potential).		Q6IFL4|Q96R65	Silent	SNP	ENST00000314706.3	37	c.882C>A	CCDS31500.1																																																																																				0.403	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		38	135	1	0	1.07637e-12	0.004878	1.47424e-12	38	135				
SLC43A1	8501	broad.mit.edu	37	11	57261530	57261530	+	Missense_Mutation	SNP	C	C	G	rs538684384		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:57261530C>G	ENST00000278426.3	-	8	1162	c.807G>C	c.(805-807)gaG>gaC	p.E269D	SLC43A1_ENST00000528450.1_Missense_Mutation_p.E269D|SLC43A1_ENST00000533515.1_5'UTR	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CCGAACCGTCCTCCAGGCTGG	0.607											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001nkk.2		NA																	0					0						c.(805-807)GAG>GAC		solute carrier family 43, member 1							84.0	73.0	77.0					11																	57261530		2201	4296	6497	SO:0001583	missense	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57261530C>G	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.807G>C	11.37:g.57261530C>G	ENSP00000278426:p.Glu269Asp		OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1021	SLC43A1_uc001nkl.2_Missense_Mutation_p.E269D	p.E269D	NM_003627	NP_003618	O75387	LAT3_HUMAN			8	925	-			269						Missense_Mutation	SNP	ENST00000278426.3	37	c.807G>C	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	c	14.34	2.505461	0.44558	.	.	ENSG00000149150	ENST00000278426;ENST00000528450;ENST00000533066	T;T;T	0.35421	1.8;1.8;1.31	5.57	2.58	0.30949	Major facilitator superfamily domain, general substrate transporter (1);	0.381209	0.27956	N	0.017180	T	0.22820	0.0551	L	0.43152	1.355	0.30022	N	0.814278	B	0.11235	0.004	B	0.17979	0.02	T	0.19289	-1.0310	10	0.15066	T	0.55	-18.0474	2.5029	0.04638	0.1552:0.5318:0.15:0.163	.	269	O75387	LAT3_HUMAN	D	269;269;238	ENSP00000278426:E269D;ENSP00000435673:E269D;ENSP00000435647:E238D	ENSP00000278426:E269D	E	-	3	2	SLC43A1	57018106	1.000000	0.71417	0.943000	0.38184	0.764000	0.43329	1.497000	0.35649	0.266000	0.21894	0.561000	0.74099	GAG		0.607	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627		8	28	0	0	0	0.00308	0	8	28				
ZBTB3	79842	broad.mit.edu	37	11	62521022	62521022	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:62521022G>C	ENST00000394807.3	-	2	390	c.265C>G	c.(265-267)Cgg>Ggg	p.R89G		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	89	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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.R89G(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AGCACAGCCCGATGGGCCAAG	0.557																																							uc001nuz.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(265-267)CGG>GGG		zinc finger and BTB domain containing 3							44.0	44.0	44.0					11																	62521022		2202	4299	6501	SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62521022G>C	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.265C>G	11.37:g.62521022G>C	ENSP00000378286:p.Arg89Gly						p.R89G	NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN			2	387	-			89			BTB.			Missense_Mutation	SNP	ENST00000394807.3	37	c.265C>G	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429782	0.62844	.	.	ENSG00000185670	ENST00000394807;ENST00000527994	T;T	0.75367	-0.93;-0.93	5.85	2.92	0.33932	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.058923	0.64402	D	0.000004	D	0.91185	0.7223	H	0.98769	4.325	0.41237	D	0.986613	D	0.89917	1.0	D	0.79108	0.992	D	0.93096	0.6504	10	0.87932	D	0	.	13.6519	0.62316	0.0:0.0:0.5984:0.4016	.	89	Q9H5J0	ZBTB3_HUMAN	G	89;39	ENSP00000378286:R89G;ENSP00000432731:R39G	ENSP00000378286:R89G	R	-	1	2	ZBTB3	62277598	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	1.180000	0.32005	0.351000	0.24027	0.561000	0.74099	CGG		0.557	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		3	40	0	0	0	0.004672	0	3	40				
C11orf84	144097	broad.mit.edu	37	11	63585711	63585711	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:63585711G>A	ENST00000294244.4	+	3	780	c.481G>A	c.(481-483)Gac>Aac	p.D161N		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	161	Pro-rich.									endometrium(3)|kidney(1)|lung(3)|skin(1)	8						TGCCCACCCAGACCCAGACGC	0.602																																							uc001nxt.2		NA																	0					0						c.(481-483)GAC>AAC		hypothetical protein LOC144097							84.0	88.0	87.0					11																	63585711		2201	4298	6499	SO:0001583	missense	144097							g.chr11:63585711G>A	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.481G>A	11.37:g.63585711G>A	ENSP00000294244:p.Asp161Asn						p.D161N	NM_138471	NP_612480	Q9BUA3	CK084_HUMAN			3	717	+			161			Pro-rich.		Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	ENST00000294244.4	37	c.481G>A	CCDS31594.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684632	0.68157	.	.	ENSG00000168005	ENST00000294244	T	0.46451	0.87	3.6	3.6	0.41247	.	0.560407	0.17747	N	0.163341	T	0.31009	0.0783	L	0.44542	1.39	0.25314	N	0.989175	P	0.46512	0.879	B	0.35470	0.203	T	0.36578	-0.9742	10	0.87932	D	0	-17.2399	11.0343	0.47791	0.0:0.0:1.0:0.0	.	161	Q9BUA3	CK084_HUMAN	N	161	ENSP00000294244:D161N	ENSP00000294244:D161N	D	+	1	0	C11orf84	63342287	0.667000	0.27484	0.534000	0.28014	0.712000	0.41017	1.845000	0.39279	2.315000	0.78130	0.561000	0.74099	GAC		0.602	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		10	87	0	0	0	0.006214	0	10	87				
DDI1	414301	broad.mit.edu	37	11	103908471	103908471	+	Silent	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:103908471T>A	ENST00000302259.3	+	1	1164	c.921T>A	c.(919-921)atT>atA	p.I307I	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	307							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TAGCTCAGATTCAAATTGAAG	0.473																																							uc001phr.2		NA																	0				large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(919-921)ATT>ATA		DDI1, DNA-damage inducible 1, homolog 1							126.0	116.0	119.0					11																	103908471		2202	4299	6501	SO:0001819	synonymous_variant	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908471T>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.921T>A	11.37:g.103908471T>A						PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.I307I	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1164	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	307					Q7Z4U6|Q8WTS3	Silent	SNP	ENST00000302259.3	37	c.921T>A	CCDS31660.1																																																																																				0.473	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		8	41	0	0	0	0.004482	0	8	41				
KBTBD3	143879	broad.mit.edu	37	11	105925172	105925172	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:105925172C>T	ENST00000526793.1	-	3	403	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	KBTBD3_ENST00000534815.1_Missense_Mutation_p.E3K|KBTBD3_ENST00000531837.1_Missense_Mutation_p.E82K	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	78	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ATGTTTACTTCAAACATAGCC	0.318																																							uc001pja.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(244-246)GAA>AAA		BTB and kelch domain containing 3							41.0	42.0	42.0					11																	105925172		2201	4299	6500	SO:0001583	missense	143879							g.chr11:105925172C>T	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.244G>A	11.37:g.105925172C>T	ENSP00000436262:p.Glu82Lys					KBTBD3_uc001pjb.2_Missense_Mutation_p.E82K|KBTBD3_uc009yxm.2_Missense_Mutation_p.E3K	p.E82K	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	4	884	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	78			BTB.		Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.244G>A	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122928	0.56613	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837;ENST00000532662	T;T;T;T	0.70516	-0.27;-0.27;-0.27;-0.49	5.36	4.39	0.52855	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.046595	0.85682	D	0.000000	T	0.67711	0.2922	L	0.33093	0.98	0.54753	D	0.999989	P;P	0.46859	0.533;0.885	B;P	0.48770	0.248;0.589	T	0.69235	-0.5198	10	0.44086	T	0.13	.	15.5005	0.75695	0.0:0.8615:0.1385:0.0	.	82;78	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	K	3;82;82;3	ENSP00000431910:E3K;ENSP00000436262:E82K;ENSP00000432163:E82K;ENSP00000433493:E3K	ENSP00000436262:E82K	E	-	1	0	KBTBD3	105430382	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.704000	0.68347	2.511000	0.84671	0.650000	0.86243	GAA		0.318	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		4	13	0	0	0	0.000248	0	4	13				
USP28	57646	broad.mit.edu	37	11	113679033	113679033	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:113679033G>A	ENST00000003302.4	-	18	2359	c.2291C>T	c.(2290-2292)gCg>gTg	p.A764V	USP28_ENST00000544967.1_Missense_Mutation_p.A472V|USP28_ENST00000545540.1_Missense_Mutation_p.A639V|USP28_ENST00000260188.5_Missense_Mutation_p.A764V	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	764					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACTCAGTGCCGCTTCTACACC	0.517																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.2		NA																	0				lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7						c.(2290-2292)GCG>GTG		ubiquitin specific protease 28							176.0	171.0	172.0					11																	113679033		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113679033G>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2291C>T	11.37:g.113679033G>A	ENSP00000003302:p.Ala764Val					USP28_uc001pog.2_Missense_Mutation_p.A472V|USP28_uc010rwy.1_Missense_Mutation_p.A639V|USP28_uc001poi.2_Missense_Mutation_p.A119V	p.A764V	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	18	2324	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	764					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.2291C>T	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	9.684	1.150084	0.21371	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	T;T;T;T	0.52754	1.45;1.22;0.65;1.24	5.36	5.36	0.76844	.	0.534182	0.20029	N	0.100746	T	0.28896	0.0717	L	0.31752	0.955	0.45690	D	0.998608	B;P;B	0.39250	0.007;0.665;0.005	B;B;B	0.21917	0.002;0.037;0.002	T	0.09015	-1.0694	10	0.23302	T	0.38	-17.961	12.587	0.56423	0.0753:0.0:0.9247:0.0	.	639;764;472	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	V	764;764;472;639	ENSP00000003302:A764V;ENSP00000260188:A764V;ENSP00000442431:A472V;ENSP00000444991:A639V	ENSP00000003302:A764V	A	-	2	0	USP28	113184243	1.000000	0.71417	0.957000	0.39632	0.231000	0.25187	5.244000	0.65400	2.794000	0.96219	0.655000	0.94253	GCG		0.517	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			28	104	0	0	0	0.008361	0	28	104				
SIDT2	51092	broad.mit.edu	37	11	117062658	117062658	+	Silent	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:117062658G>C	ENST00000324225.4	+	19	2331	c.1800G>C	c.(1798-1800)ccG>ccC	p.P600P	SIDT2_ENST00000431081.2_Silent_p.P597P|SIDT2_ENST00000532062.1_5'Flank	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	600					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		AGCGGCACCCGGACATCAACG	0.587																																							uc001pqh.1		NA																	0					0						c.(1798-1800)CCG>CCC		SID1 transmembrane family, member 2 precursor							197.0	176.0	183.0					11																	117062658		2201	4296	6497	SO:0001819	synonymous_variant	51092					integral to membrane|lysosomal membrane		g.chr11:117062658G>C	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1800G>C	11.37:g.117062658G>C						SIDT2_uc010rxe.1_Silent_p.P600P|SIDT2_uc001pqg.2_Silent_p.P621P|SIDT2_uc001pqi.1_Silent_p.P597P|SIDT2_uc001pqj.1_5'Flank	p.P600P	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	19	1841	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	600			Extracellular (Potential).		Q8NBY7|Q9Y357	Silent	SNP	ENST00000324225.4	37	c.1800G>C	CCDS31682.1																																																																																				0.587	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		6	75	0	0	0	0.001984	0	6	75				
CLMP	79827	broad.mit.edu	37	11	122944421	122944421	+	Missense_Mutation	SNP	G	G	A	rs201115327		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:122944421G>A	ENST00000448775.2	-	7	1223	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	295	Ser-rich.				digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						CGTGAGCTCCGAGAGCCTGAG	0.547													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21688	0.0		0.0	False		,,,				2504	0.0						uc001pyt.2		NA																	0					0						c.(883-885)CGG>TGG		adipocyte-specific adhesion molecule precursor							103.0	102.0	102.0					11																	122944421		2202	4299	6501	SO:0001583	missense	79827					integral to membrane|tight junction		g.chr11:122944421G>A	BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24039	protein-coding gene	gene with protein product	"""adipocyte-specific adhesion molecule"", ""coxsackie- and adenovirus receptor-like membrane protein"", ""adipocyte adhesion molecule"""	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.883C>T	11.37:g.122944421G>A	ENSP00000405577:p.Arg295Trp						p.R295W	NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)	7	1242	-		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	295			Ser-rich.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000448775.2	37	c.883C>T	CCDS8441.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	18.37	3.609514	0.66558	.	.	ENSG00000166250	ENST00000448775	T	0.75477	-0.94	5.44	2.35	0.29111	.	0.235143	0.42682	D	0.000661	T	0.55433	0.1920	L	0.60455	1.87	0.40815	D	0.983458	P	0.48834	0.916	B	0.36666	0.23	T	0.59690	-0.7407	10	0.40728	T	0.16	.	8.8745	0.35337	0.0:0.2133:0.4369:0.3498	.	295	Q9H6B4	CLMP_HUMAN	W	295	ENSP00000405577:R295W	ENSP00000405577:R295W	R	-	1	2	CLMP	122449631	0.037000	0.19845	0.658000	0.29665	0.997000	0.91878	0.969000	0.29370	0.635000	0.30488	0.655000	0.94253	CGG		0.547	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769		10	73	0	0	0	0.006214	0	10	73				
OR6T1	219874	broad.mit.edu	37	11	123813876	123813876	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:123813876T>A	ENST00000321252.2	-	1	704	c.670A>T	c.(670-672)Act>Tct	p.T224S		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGAGAACAGTGGCAAGAATG	0.532																																							uc010sab.1		NA																	0				ovary(1)	1						c.(670-672)ACT>TCT		olfactory receptor, family 6, subfamily T,							88.0	82.0	85.0					11																	123813876		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813876T>A	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.670A>T	11.37:g.123813876T>A	ENSP00000325203:p.Thr224Ser						p.T224S	NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	670	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	224			Cytoplasmic (Potential).		Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.670A>T	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.939744	0.34189	.	.	ENSG00000181499	ENST00000321252	T	0.00145	8.67	3.7	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	L	0.39514	1.22	0.09310	N	1	D	0.55605	0.972	P	0.60415	0.874	T	0.51284	-0.8725	9	0.66056	D	0.02	-29.8776	3.1272	0.06411	0.2072:0.1176:0.0:0.6751	.	224	Q8NGN1	OR6T1_HUMAN	S	224	ENSP00000325203:T224S	ENSP00000325203:T224S	T	-	1	0	OR6T1	123319086	0.000000	0.05858	0.038000	0.18304	0.587000	0.36485	-0.112000	0.10791	0.469000	0.27268	0.460000	0.39030	ACT		0.532	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		6	32	0	0	0	0.001168	0	6	32				
OR10G7	390265	broad.mit.edu	37	11	123909323	123909323	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:123909323A>T	ENST00000330487.5	-	1	394	c.386T>A	c.(385-387)cTc>cAc	p.L129H		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGTGTACCTGAGCGGGTAACT	0.557																																							uc001pzq.1		NA																	0				ovary(2)	2						c.(385-387)CTC>CAC		olfactory receptor, family 10, subfamily G,							175.0	161.0	166.0					11																	123909323		2200	4299	6499	SO:0001583	missense	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909323A>T	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.386T>A	11.37:g.123909323A>T	ENSP00000329689:p.Leu129His						p.L129H	NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	386	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	129			Cytoplasmic (Potential).		Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	c.386T>A	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.938349	0.52972	.	.	ENSG00000182634	ENST00000330487	T	0.01516	4.81	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38605	N	0.001629	T	0.16769	0.0403	H	0.97365	3.99	0.41770	D	0.989766	D	0.89917	1.0	D	0.91635	0.999	T	0.13202	-1.0518	10	0.87932	D	0	.	11.6893	0.51505	1.0:0.0:0.0:0.0	.	129	Q8NGN6	O10G7_HUMAN	H	129	ENSP00000329689:L129H	ENSP00000329689:L129H	L	-	2	0	OR10G7	123414533	1.000000	0.71417	0.990000	0.47175	0.446000	0.32137	8.457000	0.90361	1.490000	0.48466	0.374000	0.22700	CTC		0.557	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		24	106	0	0	0	0.00333	0	24	106				
OR8D1	283159	broad.mit.edu	37	11	124180000	124180000	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:124180000G>C	ENST00000357821.2	-	1	733	c.663C>G	c.(661-663)atC>atG	p.I221M		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TGCTGTAGAGGATGAAGGCAT	0.512																																							uc010sag.1		NA																	0				ovary(2)|skin(1)	3						c.(661-663)ATC>ATG		olfactory receptor, family 8, subfamily D,							64.0	52.0	56.0					11																	124180000		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180000G>C	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.663C>G	11.37:g.124180000G>C	ENSP00000350474:p.Ile221Met						p.I221M	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	663	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	221			Cytoplasmic (Potential).		B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.663C>G	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	g	12.15	1.851529	0.32699	.	.	ENSG00000196341	ENST00000357821	T	0.00411	7.53	4.29	-1.65	0.08291	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37348	U	0.002122	T	0.01592	0.0051	H	0.98559	4.265	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.36261	-0.9755	10	0.87932	D	0	.	5.0517	0.14513	0.4432:0.0:0.4235:0.1334	.	221	Q8WZ84	OR8D1_HUMAN	M	221	ENSP00000350474:I221M	ENSP00000350474:I221M	I	-	3	3	OR8D1	123685210	0.002000	0.14202	0.008000	0.14137	0.001000	0.01503	-0.391000	0.07323	-0.241000	0.09681	-1.889000	0.00537	ATC		0.512	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		8	20	0	0	0	0.004482	0	8	20				
PRMT8	56341	broad.mit.edu	37	12	3701483	3701483	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:3701483G>T	ENST00000382622.3	+	9	1456	c.1066G>T	c.(1066-1068)Ggg>Tgg	p.G356W	PRMT8_ENST00000452611.2_Missense_Mutation_p.G347W|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	356	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GGAAATCTACGGGACCATATC	0.557																																							uc001qmf.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1066-1068)GGG>TGG		HMT1 hnRNP methyltransferase-like 4							101.0	102.0	101.0					12																	3701483		2203	4300	6503	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3701483G>T	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.1066G>T	12.37:g.3701483G>T	ENSP00000372067:p.Gly356Trp					PRMT8_uc009zed.2_Missense_Mutation_p.G347W|PRMT8_uc001qmg.2_Missense_Mutation_p.G170W|PRMT8_uc001qmh.2_RNA	p.G356W	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		9	1433	+			356					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.1066G>T	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534442	0.85812	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	D;D	0.96427	-4.01;-4.01	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.98855	0.9613	H	0.97315	3.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99585	1.0974	10	0.87932	D	0	.	16.3206	0.82950	0.0:0.0:1.0:0.0	.	347;356	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	W	347;356	ENSP00000414507:G347W;ENSP00000372067:G356W	ENSP00000372067:G356W	G	+	1	0	PRMT8	3571744	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.752000	0.98900	2.440000	0.82611	0.561000	0.74099	GGG		0.557	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		24	48	1	0	2.70639e-06	0.002299	3.3544e-06	24	48				
KCNA6	3742	broad.mit.edu	37	12	4919377	4919377	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:4919377G>A	ENST00000280684.3	+	1	1036	c.170G>A	c.(169-171)cGc>cAc	p.R57H	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.R57H			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	57					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	ACACAATTGCGCACCCTGTCG	0.652										HNSCC(72;0.22)																													uc001qng.2		NA																	0				skin(2)|ovary(1)	3						c.(169-171)CGC>CAC		potassium voltage-gated channel, shaker-related							42.0	44.0	43.0					12																	4919377		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919377G>A	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.170G>A	12.37:g.4919377G>A	ENSP00000280684:p.Arg57His	HNSCC(72;0.22)					p.R57H	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	1036	+			57						Missense_Mutation	SNP	ENST00000280684.3	37	c.170G>A	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841747	0.51057	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.76709	-1.04;-1.04	4.57	4.57	0.56435	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.185730	0.44688	D	0.000428	T	0.76557	0.4004	M	0.63169	1.94	0.47659	D	0.99948	P	0.43885	0.82	B	0.40477	0.33	T	0.81558	-0.0878	10	0.72032	D	0.01	.	16.5124	0.84289	0.0:0.0:1.0:0.0	.	57	P17658	KCNA6_HUMAN	H	57	ENSP00000408321:R57H;ENSP00000280684:R57H	ENSP00000280684:R57H	R	+	2	0	KCNA6	4789638	0.006000	0.16342	1.000000	0.80357	0.928000	0.56348	0.684000	0.25364	2.363000	0.80096	0.462000	0.41574	CGC		0.652	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		5	27	0	0	0	0.000602	0	5	27				
KCNA1	3736	broad.mit.edu	37	12	5021642	5021642	+	Silent	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:5021642G>T	ENST00000382545.3	+	2	2205	c.1098G>T	c.(1096-1098)gcG>gcT	p.A366A	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	366					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	TCTGGTGGGCGGTGGTGTCCA	0.537																																							uc001qnh.2		NA																	0				ovary(1)|skin(1)	2						c.(1096-1098)GCG>GCT		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						205.0	193.0	197.0					12																	5021642		2203	4300	6503	SO:0001819	synonymous_variant	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021642G>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1098G>T	12.37:g.5021642G>T							p.A366A	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	2203	+			366					A6NM83|Q3MIQ9	Silent	SNP	ENST00000382545.3	37	c.1098G>T	CCDS8535.1																																																																																				0.537	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		37	114	1	0	4.62619e-21	0.004289	6.59279e-21	37	114				
ETNK1	55500	broad.mit.edu	37	12	22813996	22813997	+	Splice_Site	DNP	GG	GG	TT			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:22813996_22813997GG>TT	ENST00000266517.4	+	4	913_914	c.824_825GG>TT	c.(823-825)aGG>aTT	p.R275I		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	275					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAAACTAAAAGGTTCCTAAGTG	0.351																																					Esophageal Squamous(42;87 913 3224 6226 43339)	Esophageal Squamous(42;87 913 3224 6226 43339)	uc001rft.2		NA																	0					0						c.e4-1		ethanolamine kinase 1 isoform A																																				SO:0001630	splice_region_variant	55500				phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	g.chr12:22813996_22813997GG>TT	BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	Exception_encountered	12.37:g.22813996_22813997delinsTT						ETNK1_uc009ziz.2_Splice_Site_p.R275_splice	p.R275_splice	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN			4	847	+								G5E969	Splice_Site	DNP	ENST00000266517.4	37	c.825_splice	CCDS8698.1																																																																																				0.351	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638	Missense_Mutation	13	19	0	0	0	0.004672	0	13	19				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	T	rs121913530		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:25398285C>T	ENST00000256078.4	-	2	97	c.34G>A	c.(34-36)Ggt>Agt	p.G12S	KRAS_ENST00000556131.1_Missense_Mutation_p.G12S|KRAS_ENST00000311936.3_Missense_Mutation_p.G12S|KRAS_ENST00000557334.1_Missense_Mutation_p.G12S	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)GGT>AGT		c-K-ras2 protein isoform a precursor							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>A	12.37:g.25398285C>T	ENSP00000256078:p.Gly12Ser	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12S|KRAS_uc001rgr.2_RNA	p.G12S	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	215	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441396	0.96187	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	L	0.28344	0.845	0.80722	D	1	P;P	0.39665	0.557;0.682	P;P	0.50570	0.525;0.644	T	0.80254	-0.1459	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	S	12	ENSP00000308495:G12S;ENSP00000452512:G12S;ENSP00000256078:G12S;ENSP00000451856:G12S	ENSP00000256078:G12S	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		8	10	0	0	0	0.00308	0	8	10				
KIF21A	55605	broad.mit.edu	37	12	39763916	39763916	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:39763916G>A	ENST00000361418.5	-	2	207	c.192C>T	c.(190-192)atC>atT	p.I64I	KIF21A_ENST00000541463.2_Silent_p.I64I|KIF21A_ENST00000395670.3_Silent_p.I64I|KIF21A_ENST00000544797.2_Silent_p.I64I|KIF21A_ENST00000361961.3_Silent_p.I64I			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	64	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ATTGAATGTAGATCTGCTCTT	0.378																																							uc001rly.2		NA																	0				ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(190-192)ATC>ATT		kinesin family member 21A							108.0	107.0	107.0					12																	39763916		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39763916G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.192C>T	12.37:g.39763916G>A						KIF21A_uc001rlx.2_Silent_p.I64I|KIF21A_uc001rlz.2_Silent_p.I64I|KIF21A_uc010skl.1_Silent_p.I64I|KIF21A_uc001rma.1_Silent_p.I64I	p.I64I	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			2	338	-		Lung NSC(34;0.179)|all_lung(34;0.213)	64			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.192C>T	CCDS53776.1																																																																																				0.378	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		10	51	0	0	0	0.006214	0	10	51				
ADAMTS20	80070	broad.mit.edu	37	12	43825133	43825133	+	Splice_Site	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:43825133A>T	ENST00000389420.3	-	22	3261		c.e22+1		ADAMTS20_ENST00000553158.1_Splice_Site|ADAMTS20_ENST00000395541.2_Splice_Site	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20						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)			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)		TCATATACTCACAGGACCCCA	0.388																																							uc010skx.1		NA																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.e22+1		a disintegrin-like and metalloprotease with							88.0	83.0	84.0					12																	43825133		2203	4300	6503	SO:0001630	splice_region_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43825133A>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.3261+1T>A	12.37:g.43825133A>T						ADAMTS20_uc001rno.1_Splice_Site_p.P241_splice|ADAMTS20_uc001rnp.1_Splice_Site_p.P241_splice	p.P1087_splice	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	22	3261	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)						A6NNC9|J3QT00	Splice_Site	SNP	ENST00000389420.3	37	c.3261_splice	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	a	19.79	3.892475	0.72524	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2778	0.66191	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS20	42111400	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.954000	0.76001	1.907000	0.55213	0.529000	0.55759	.		0.388	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	Intron	12	48	0	0	0	0.001855	0	12	48				
KRT80	144501	broad.mit.edu	37	12	52567495	52567495	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:52567495C>T	ENST00000394815.2	-	5	817	c.720G>A	c.(718-720)atG>atA	p.M240I	KRT80_ENST00000313234.5_Missense_Mutation_p.M240I	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	240	Linker 12.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		AGCGGCTGTCCATGCCGACGG	0.662																																					GBM(178;2309 2916 15678 35873)	GBM(178;2309 2916 15678 35873)	uc001rzx.2		NA																	0					0						c.(718-720)ATG>ATA		keratin 80 isoform a							72.0	58.0	63.0					12																	52567495		2203	4294	6497	SO:0001583	missense	144501					keratin filament	structural molecule activity	g.chr12:52567495C>T	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.720G>A	12.37:g.52567495C>T	ENSP00000378292:p.Met240Ile					KRT80_uc001rzw.2_Missense_Mutation_p.M275I|KRT80_uc001rzy.2_Missense_Mutation_p.M240I	p.M240I	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	5	818	-			240			Linker 12.|Rod.		Q6P1A5|Q7Z3Q0	Missense_Mutation	SNP	ENST00000394815.2	37	c.720G>A	CCDS8821.2	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853609	0.32791	.	.	ENSG00000167767	ENST00000313234;ENST00000394815	D;D	0.88818	-2.43;-2.43	4.23	3.33	0.38152	Filament (1);	0.335858	0.21723	N	0.070087	D	0.88713	0.6511	M	0.89095	3.005	0.30165	N	0.801825	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.11329	0.003;0.004;0.006	D	0.85527	0.1207	10	0.72032	D	0.01	.	6.1621	0.20370	0.1336:0.6575:0.1302:0.0786	.	240;240;275	Q6KB66-2;Q6KB66;Q6KB66-3	.;K2C80_HUMAN;.	I	240	ENSP00000369361:M240I;ENSP00000378292:M240I	ENSP00000369361:M240I	M	-	3	0	KRT80	50853762	0.999000	0.42202	0.984000	0.44739	0.555000	0.35460	0.792000	0.26929	1.125000	0.41998	0.561000	0.74099	ATG		0.662	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507		7	52	0	0	0	0.001984	0	7	52				
HNRNPA1	3178	broad.mit.edu	37	12	54678090	54678090	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:54678090G>C	ENST00000340913.6	+	10	1165	c.1112G>C	c.(1111-1113)aGa>aCa	p.R371T	HNRNPA1_ENST00000546500.1_Missense_Mutation_p.R319T|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.R306T|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.R266T|RP11-968A15.8_ENST00000553061.1_RNA	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	371	Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGTGGCAGAAGATTTTAATTA	0.378																																					Colon(83;502 1289 8436 16406 24870)	Colon(83;502 1289 8436 16406 24870)	uc001sfl.2		NA																	0				skin(2)|ovary(1)	3						c.(1111-1113)AGA>ACA		heterogeneous nuclear ribonucleoprotein A1							72.0	70.0	70.0					12																	54678090		1847	4098	5945	SO:0001583	missense	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54678090G>C	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.1112G>C	12.37:g.54678090G>C	ENSP00000341826:p.Arg371Thr					HNRNPA1_uc001sfm.2_Missense_Mutation_p.R319T|HNRNPA1_uc009zng.2_Intron|HNRNPA1_uc009znh.2_Missense_Mutation_p.R319T|HNRNPA1_uc009zni.2_Missense_Mutation_p.R306T|HNRNPA1_uc001sfn.2_Missense_Mutation_p.R266T|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc009znj.1_Missense_Mutation_p.R274T	p.R371T	NM_031157	NP_112420	P09651	ROA1_HUMAN			10	1216	+			371			Gly-rich.		A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	c.1112G>C	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.037185	0.54896	.	.	ENSG00000135486	ENST00000546500;ENST00000547617;ENST00000340913;ENST00000330752;ENST00000551133;ENST00000547276;ENST00000550482	T;D;T;T	0.85773	-0.42;-2.03;-0.34;1.05	4.1	3.22	0.36961	.	0.379541	0.21297	N	0.076866	D	0.90896	0.7139	M	0.74881	2.28	0.25482	N	0.98773	P;B;B;D;B;P	0.76494	0.608;0.275;0.403;0.999;0.403;0.608	B;B;B;D;B;B	0.83275	0.143;0.056;0.075;0.996;0.056;0.143	T	0.83281	-0.0038	10	0.87932	D	0	.	11.701	0.51571	0.0:0.0:0.8216:0.1784	.	297;306;319;266;319;371	Q9BSM5;F8VRQ1;F8W6I7;P09651-3;P09651-2;P09651	.;.;.;.;.;ROA1_HUMAN	T	319;303;371;319;306;266;190	ENSP00000448617:R319T;ENSP00000341826:R371T;ENSP00000447260:R266T;ENSP00000446486:R190T	ENSP00000333504:R319T	R	+	2	0	HNRNPA1	52964357	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.657000	0.74402	1.347000	0.45714	-0.218000	0.12543	AGA		0.378	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		9	21	0	0	0	0.008291	0	9	21				
DGKA	1606	broad.mit.edu	37	12	56333946	56333946	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:56333946G>T	ENST00000331886.5	+	10	1244	c.790G>T	c.(790-792)Gac>Tac	p.D264Y	DGKA_ENST00000551156.1_Missense_Mutation_p.D264Y|DGKA_ENST00000394147.1_Missense_Mutation_p.D264Y|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	264					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GTCTCGGAAGGACATTGGTGT	0.572											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001sij.2		NA																	0				ovary(3)|pancreas(1)	4						c.(790-792)GAC>TAC		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						228.0	192.0	204.0					12																	56333946		2203	4300	6503	SO:0001583	missense	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56333946G>T	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.790G>T	12.37:g.56333946G>T	ENSP00000328405:p.Asp264Tyr		OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	DGKA_uc009zoc.1_Missense_Mutation_p.D264Y|DGKA_uc001sih.1_Missense_Mutation_p.D152Y|DGKA_uc001sii.1_Missense_Mutation_p.D122Y|DGKA_uc009zod.1_Missense_Mutation_p.D183Y|DGKA_uc009zoe.1_3'UTR|DGKA_uc001sik.2_Missense_Mutation_p.D264Y|DGKA_uc001sil.2_Missense_Mutation_p.D264Y|DGKA_uc001sim.2_Missense_Mutation_p.D264Y|DGKA_uc001sin.2_Missense_Mutation_p.D264Y|DGKA_uc009zof.2_Intron|DGKA_uc001sio.2_Missense_Mutation_p.R6S	p.D264Y	NM_001345	NP_001336	P23743	DGKA_HUMAN			10	1054	+			264					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	c.790G>T	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619627	0.87460	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	5.05	5.05	0.67936	.	0.053369	0.64402	D	0.000001	D	0.90717	0.7087	L	0.58810	1.83	0.54753	D	0.999985	P;D;P	0.76494	0.93;0.999;0.864	P;D;P	0.70227	0.582;0.968;0.597	D	0.91160	0.4960	10	0.72032	D	0.01	.	17.7031	0.88301	0.0:0.0:1.0:0.0	.	183;264;264	G3V4E1;B4E0C6;P23743	.;.;DGKA_HUMAN	Y	264;183;264;264	ENSP00000328405:D264Y;ENSP00000451743:D183Y;ENSP00000377703:D264Y;ENSP00000450359:D264Y	ENSP00000328405:D264Y	D	+	1	0	DGKA	54620213	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.090000	0.64498	2.800000	0.96347	0.591000	0.81541	GAC		0.572	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			16	60	1	0	2.48551e-13	0.00499	3.44448e-13	16	60				
NAV3	89795	broad.mit.edu	37	12	78515721	78515721	+	Splice_Site	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:78515721T>A	ENST00000397909.2	+	16	3924	c.3751T>A	c.(3751-3753)Ttg>Atg	p.L1251M	NAV3_ENST00000536525.2_Splice_Site_p.L1251M|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Splice_Site_p.L1251M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1251	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTCTTTTAGGTTGTTTGGTGC	0.433										HNSCC(70;0.22)																													uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(3751-3753)TTG>ATG		neuron navigator 3							44.0	41.0	42.0					12																	78515721		1891	4122	6013	SO:0001630	splice_region_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78515721T>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3750-1T>A	12.37:g.78515721T>A		HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.L1251M|NAV3_uc010sub.1_Missense_Mutation_p.L751M|NAV3_uc009zsf.2_Intron	p.L1251M	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			16	3924	+			1251			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3751T>A		.	.	.	.	.	.	.	.	.	.	T	18.06	3.538928	0.65085	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327	T;T;T	0.39056	1.13;1.1;1.14	6.06	4.93	0.64822	.	0.000000	0.33144	U	0.005222	T	0.56411	0.1983	L	0.48986	1.54	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.997;0.998;0.999	T	0.56463	-0.7975	10	0.52906	T	0.07	-8.6104	11.6628	0.51356	0.0:0.0684:0.0:0.9316	.	1251;1251;1251	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	M	1251	ENSP00000446132:L1251M;ENSP00000381007:L1251M;ENSP00000228327:L1251M	ENSP00000228327:L1251M	L	+	1	2	NAV3	77039852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.066000	0.71185	2.315000	0.78130	0.533000	0.62120	TTG		0.433	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	Missense_Mutation	3	21	0	0	0	0.004672	0	3	21				
DCN	1634	broad.mit.edu	37	12	91572199	91572199	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:91572199C>T	ENST00000052754.5	-	2	632	c.131G>A	c.(130-132)cGc>cAc	p.R44H	DCN_ENST00000546745.1_Missense_Mutation_p.R44H|DCN_ENST00000546370.1_Missense_Mutation_p.R44H|DCN_ENST00000425043.1_Missense_Mutation_p.R44H|DCN_ENST00000547568.2_Missense_Mutation_p.R44H|DCN_ENST00000456569.2_Missense_Mutation_p.R44H|DCN_ENST00000228329.5_Missense_Mutation_p.R44H|DCN_ENST00000550099.1_Missense_Mutation_p.R44H|DCN_ENST00000393155.1_Missense_Mutation_p.R44H|DCN_ENST00000548768.1_5'Flank|DCN_ENST00000552962.1_Missense_Mutation_p.R44H|DCN_ENST00000551354.1_Missense_Mutation_p.R44H|DCN_ENST00000441303.2_Missense_Mutation_p.R44H|DCN_ENST00000303320.3_Missense_Mutation_p.R44H|DCN_ENST00000420120.2_Missense_Mutation_p.R44H	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	44					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						CTCGAAGTCGCGGTCATCAGG	0.532											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001tbs.2		NA																	0				central_nervous_system(2)|ovary(1)|lung(1)	4						c.(130-132)CGC>CAC		decorin isoform a preproprotein							134.0	129.0	131.0					12																	91572199		2203	4300	6503	SO:0001583	missense	1634				organ morphogenesis	extracellular space		g.chr12:91572199C>T	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.131G>A	12.37:g.91572199C>T	ENSP00000052754:p.Arg44His		OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1283	DCN_uc001tbo.2_Missense_Mutation_p.R44H|DCN_uc001tbp.2_Missense_Mutation_p.R44H|DCN_uc001tbq.2_Missense_Mutation_p.R44H|DCN_uc001tbr.2_Missense_Mutation_p.R44H|DCN_uc001tbt.2_Missense_Mutation_p.R44H|DCN_uc001tbu.2_Missense_Mutation_p.R44H	p.R44H	NM_133503	NP_598010	P07585	PGS2_HUMAN			1	225	-			44					Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	c.131G>A	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571705	0.28003	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000303320;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000441303;ENST00000547568;ENST00000546391;ENST00000456569;ENST00000547937;ENST00000552145;ENST00000550563;ENST00000549513;ENST00000546370;ENST00000546745;ENST00000550099;ENST00000551354	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.77489	0.46;0.02;-1.1;0.46;0.26;0.46;0.02;-1.1;0.26;0.34;0.21;0.12;0.21;-0.72	4.97	0.925	0.19424	.	0.791604	0.12594	N	0.455350	T	0.50718	0.1632	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.12013	0.0;0.002;0.005;0.0;0.0	B;B;B;B;B	0.08055	0.0;0.003;0.002;0.0;0.0	T	0.29792	-1.0000	10	0.15066	T	0.55	.	3.5966	0.08009	0.1323:0.1117:0.5144:0.2416	.	44;44;44;44;44	P07585;P07585-5;P07585-4;P07585-3;P07585-2	PGS2_HUMAN;.;.;.;.	H	44	ENSP00000052754:R44H;ENSP00000228329:R44H;ENSP00000302031:R44H;ENSP00000376862:R44H;ENSP00000401021:R44H;ENSP00000447654:R44H;ENSP00000413723:R44H;ENSP00000399815:R44H;ENSP00000447674:R44H;ENSP00000446530:R44H;ENSP00000449782:R44H;ENSP00000447886:R44H;ENSP00000449014:R44H;ENSP00000449438:R44H	ENSP00000052754:R44H	R	-	2	0	DCN	90096330	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.077000	0.11394	0.064000	0.16427	-0.565000	0.04167	CGC		0.532	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		17	89	0	0	0	0.00499	0	17	89				
NCOR2	9612	broad.mit.edu	37	12	124821386	124821386	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:124821386C>G	ENST00000405201.1	-	38	6028	c.6028G>C	c.(6028-6030)Gcg>Ccg	p.A2010P	NCOR2_ENST00000404621.1_Missense_Mutation_p.A2000P|NCOR2_ENST00000356219.3_Missense_Mutation_p.A2017P|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1571P|NCOR2_ENST00000397355.1_Missense_Mutation_p.A2001P|NCOR2_ENST00000429285.2_Missense_Mutation_p.A2000P			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2021					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCAGGTGGCGCCGGCGGGTCC	0.662																																							uc010tay.1		NA																	0				skin(3)|ovary(1)	4						c.(6058-6060)GCG>CCG		nuclear receptor co-repressor 2 isoform 1							31.0	37.0	35.0					12																	124821386		1974	4143	6117	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124821386C>G	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.6028G>C	12.37:g.124821386C>G	ENSP00000384018:p.Ala2010Pro					NCOR2_uc010taz.1_Missense_Mutation_p.A2004P|NCOR2_uc010tax.1_Missense_Mutation_p.A131P	p.A2020P	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	40	6214	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2021					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.6058G>C	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	c	6.880	0.531864	0.13127	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285	T;T;T;T;T;T	0.19250	2.16;2.42;2.16;2.42;2.16;2.42	4.25	3.32	0.38043	.	0.227351	0.36628	N	0.002481	T	0.09598	0.0236	N	0.08118	0	0.18873	N	0.999989	B;B;B	0.21381	0.033;0.055;0.033	B;B;B	0.20577	0.013;0.03;0.013	T	0.22173	-1.0224	10	0.28530	T	0.3	-34.8786	8.3176	0.32111	0.0:0.6806:0.2184:0.101	.	2001;2010;2021	C9J239;C9JFD3;Q9Y618	.;.;NCOR2_HUMAN	P	2010;2000;2017;2001;2009;1571;102;2000	ENSP00000384018:A2010P;ENSP00000384202:A2000P;ENSP00000348551:A2017P;ENSP00000380513:A2001P;ENSP00000385618:A1571P;ENSP00000400281:A2000P	ENSP00000348551:A2017P	A	-	1	0	NCOR2	123387339	0.979000	0.34478	0.734000	0.30879	0.436000	0.31835	1.142000	0.31540	2.185000	0.69588	0.556000	0.70494	GCG		0.662	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		5	23	0	0	0	0.000602	0	5	23				
RNF17	56163	broad.mit.edu	37	13	25417962	25417962	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr13:25417962A>G	ENST00000255324.5	+	20	2736	c.2684A>G	c.(2683-2685)cAc>cGc	p.H895R	RNF17_ENST00000381921.1_Missense_Mutation_p.H895R|RNF17_ENST00000339524.3_5'Flank	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	895					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATGAAGTACACAACTTAAAT	0.313																																							uc001upr.2		NA																	0				ovary(1)|skin(1)	2						c.(2683-2685)CAC>CGC		ring finger protein 17							60.0	60.0	60.0					13																	25417962		2203	4293	6496	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25417962A>G	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2684A>G	13.37:g.25417962A>G	ENSP00000255324:p.His895Arg					RNF17_uc010tdd.1_Missense_Mutation_p.H754R|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.H895R|RNF17_uc001ups.2_Missense_Mutation_p.H834R|RNF17_uc010aac.2_Missense_Mutation_p.H93R|RNF17_uc010aad.2_5'UTR	p.H895R	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	20	2725	+		Lung SC(185;0.0225)|Breast(139;0.077)	895					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.2684A>G	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	9.077	0.998403	0.19121	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.10763	3.61;3.61;2.84	4.54	4.54	0.55810	.	0.437967	0.22766	N	0.055896	T	0.05731	0.0150	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.11329	0.001;0.006;0.0	T	0.39251	-0.9623	10	0.18276	T	0.48	-5.8032	11.7686	0.51945	1.0:0.0:0.0:0.0	.	895;895;895	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	R	895;895;754;219	ENSP00000255324:H895R;ENSP00000371346:H895R;ENSP00000388892:H219R	ENSP00000255324:H895R	H	+	2	0	RNF17	24315962	0.975000	0.34042	0.992000	0.48379	0.446000	0.32137	2.506000	0.45433	2.033000	0.60031	0.482000	0.46254	CAC		0.313	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		4	18	0	0	0	0.000248	0	4	18				
ABCC4	10257	broad.mit.edu	37	13	95723952	95723952	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr13:95723952C>T	ENST00000376887.4	-	25	3288	c.3174G>A	c.(3172-3174)ctG>ctA	p.L1058L	ABCC4_ENST00000412704.1_Silent_p.L1011L|ABCC4_ENST00000474158.1_5'Flank	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1058	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TCAGATGCTTCAGTACCAGAG	0.438																																							uc001vmd.3		NA																	0				central_nervous_system(3)|skin(1)	4						c.(3172-3174)CTG>CTA		ATP-binding cassette, sub-family C, member 4	Cefazolin(DB01327)						209.0	178.0	189.0					13																	95723952		2203	4300	6503	SO:0001819	synonymous_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95723952C>T	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3174G>A	13.37:g.95723952C>T						ABCC4_uc010afk.2_Silent_p.L1011L	p.L1058L	NM_005845	NP_005836	O15439	MRP4_HUMAN			25	3293	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1058			ABC transporter 2.|Helical; (Potential).		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	c.3174G>A	CCDS9474.1																																																																																				0.438	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		7	78	0	0	0	0.001984	0	7	78				
NALCN	259232	broad.mit.edu	37	13	101759838	101759838	+	Splice_Site	SNP	G	G	T	rs186621340	byFrequency	TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr13:101759838G>T	ENST00000251127.6	-	22	2660	c.2579C>A	c.(2578-2580)gCa>gAa	p.A860E		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	860					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGTACTTACGCGTTGAAGCG	0.502																																							uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(2578-2580)GCA>GAA		voltage gated channel like 1							105.0	92.0	96.0					13																	101759838		2203	4300	6503	SO:0001630	splice_region_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101759838G>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2579+1C>A	13.37:g.101759838G>T							p.A860E	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			22	2768	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		860			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2579C>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870907	0.51695	.	.	ENSG00000102452	ENST00000251127	D	0.97620	-4.46	5.61	3.9	0.45041	.	0.053024	0.85682	D	0.000000	D	0.95535	0.8549	L	0.54323	1.7	0.80722	D	1	P	0.45594	0.862	P	0.44696	0.458	D	0.93251	0.6635	9	.	.	.	.	12.6034	0.56509	0.1346:0.0:0.8654:0.0	.	860	Q8IZF0	NALCN_HUMAN	E	860	ENSP00000251127:A860E	.	A	-	2	0	NALCN	100557839	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	4.864000	0.62990	0.737000	0.32582	-0.128000	0.14901	GCA		0.502	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	Missense_Mutation	10	57	1	0	7.48243e-07	0.006214	9.47415e-07	10	57				
TMEM255B	348013	broad.mit.edu	37	13	114504650	114504650	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr13:114504650T>A	ENST00000375353.3	+	7	561	c.534T>A	c.(532-534)taT>taA	p.Y178*		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	178						integral component of membrane (GO:0016021)											CCGCCTACTATGAGTTCATCG	0.627																																							uc001vuh.2		NA																	0					0						c.(532-534)TAT>TAA		family with sequence similarity 70, member B							31.0	28.0	29.0					13																	114504650		2203	4300	6503	SO:0001587	stop_gained	348013					integral to membrane		g.chr13:114504650T>A	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member B"""	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.534T>A	13.37:g.114504650T>A	ENSP00000364502:p.Tyr178*						p.Y178*	NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	all cancers(43;0.181)		7	561	+	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	178						Nonsense_Mutation	SNP	ENST00000375353.3	37	c.534T>A	CCDS45071.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.808643	0.50421	.	.	ENSG00000184497	ENST00000375353	.	.	.	4.69	-3.96	0.04106	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5131	11.3526	0.49596	0.0:0.4803:0.0:0.5197	.	.	.	.	X	178	.	ENSP00000364502:Y178X	Y	+	3	2	FAM70B	113609293	0.001000	0.12720	0.746000	0.31095	0.024000	0.10985	-1.929000	0.01558	-0.809000	0.04381	-1.917000	0.00517	TAT		0.627	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614		5	19	0	0	0	0.001168	0	5	19				
OR4Q3	441669	broad.mit.edu	37	14	20216239	20216239	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:20216239C>A	ENST00000331723.1	+	1	653	c.653C>A	c.(652-654)tCt>tAt	p.S218Y		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S218F(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTACTATTCTCTTATGCTATC	0.507																																							uc010tkt.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(652-654)TCT>TAT		olfactory receptor, family 4, subfamily Q,							196.0	157.0	171.0					14																	20216239		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216239C>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.653C>A	14.37:g.20216239C>A	ENSP00000330049:p.Ser218Tyr						p.S218Y	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	653	+	all_cancers(95;0.00108)		218			Helical; Name=5; (Potential).		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.653C>A	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	11.04	1.522600	0.27211	.	.	ENSG00000182652	ENST00000331723	T	0.46063	0.88	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39909	U	0.001226	T	0.76407	0.3983	H	0.98027	4.13	0.27060	N	0.96359	D	0.89917	1.0	D	0.97110	1.0	T	0.75684	-0.3232	10	0.87932	D	0	.	14.0955	0.65019	0.0:1.0:0.0:0.0	.	218	Q8NH05	OR4Q3_HUMAN	Y	218	ENSP00000330049:S218Y	ENSP00000330049:S218Y	S	+	2	0	OR4Q3	19286079	0.990000	0.36364	0.804000	0.32291	0.057000	0.15508	3.307000	0.51888	2.166000	0.68216	0.509000	0.49947	TCT		0.507	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			8	71	1	0	1.26484e-09	0.00308	1.66751e-09	8	71				
OR4N2	390429	broad.mit.edu	37	14	20296152	20296152	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:20296152C>T	ENST00000315947.1	+	1	545	c.545C>T	c.(544-546)cCa>cTa	p.P182L	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGATGTCCCACAGGTCATC	0.537																																							uc010tkv.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(544-546)CCA>CTA		olfactory receptor, family 4, subfamily N,							139.0	143.0	142.0					14																	20296152		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296152C>T		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.545C>T	14.37:g.20296152C>T	ENSP00000319601:p.Pro182Leu						p.P182L	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	545	+	all_cancers(95;0.00108)		182			Extracellular (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.545C>T	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	14.47	2.544835	0.45280	.	.	ENSG00000176294	ENST00000315947	T	0.00188	8.59	4.52	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000154	T	0.00241	0.0007	M	0.64567	1.98	0.40478	D	0.980413	B	0.22080	0.064	B	0.32724	0.151	T	0.73222	-0.4051	10	0.13108	T	0.6	-11.5246	15.0917	0.72201	0.0:1.0:0.0:0.0	.	182	Q8NGD1	OR4N2_HUMAN	L	182	ENSP00000319601:P182L	ENSP00000319601:P182L	P	+	2	0	OR4N2	19365992	0.001000	0.12720	0.940000	0.37924	0.998000	0.95712	1.546000	0.36179	2.483000	0.83821	0.585000	0.79938	CCA		0.537	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			39	154	0	0	0	0.007835	0	39	154				
CHD8	57680	broad.mit.edu	37	14	21871246	21871246	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:21871246C>A	ENST00000557364.1	-	18	3907	c.3644G>T	c.(3643-3645)gGt>gTt	p.G1215V	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.G936V|CHD8_ENST00000399982.2_Missense_Mutation_p.G1215V			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1215	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGATTAATACCAAGTCCACC	0.478																																							uc001was.1		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(2806-2808)GGT>GTT		chromodomain helicase DNA binding protein 8							67.0	70.0	69.0					14																	21871246		2154	4281	6435	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21871246C>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3644G>T	14.37:g.21871246C>A	ENSP00000451601:p.Gly1215Val					CHD8_uc001war.1_Missense_Mutation_p.G832V|CHD8_uc001wav.1_Missense_Mutation_p.G378V	p.G936V	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	18	2901	-	all_cancers(95;0.00121)		1215			Helicase C-terminal.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.2807G>T	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.266661|4.266661	0.80358|0.80358	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.97598|.	-4.45;-4.45;-4.45|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Helicase, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91858|0.91858	0.7423|0.7423	H|H	0.99642|0.99642	4.675|4.675	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.995|.	D|D	0.95207|0.95207	0.8322|0.8322	10|5	0.87932|.	D|.	0|.	-20.9922|-20.9922	17.9328|17.9328	0.89004|0.89004	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1215;936|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	V|C	936;1215;935;1215|440	ENSP00000406288:G936V;ENSP00000382863:G1215V;ENSP00000451601:G1215V|.	ENSP00000262707:G935V|.	G|W	-|-	2|3	0|0	CHD8|CHD8	20941086|20941086	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.651000|7.651000	0.83577|0.83577	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.478	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		8	46	1	0	0.000274275	0.004482	0.000321816	8	46				
BAZ1A	11177	broad.mit.edu	37	14	35245502	35245502	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:35245502G>C	ENST00000382422.2	-	17	2783	c.2456C>G	c.(2455-2457)tCt>tGt	p.S819C	BAZ1A_ENST00000358716.4_Missense_Mutation_p.S787C|BAZ1A_ENST00000360310.1_Missense_Mutation_p.S819C			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	819	Interaction with SMARCA5.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TCCAGGAATAGAAGGGAAAAT	0.408																																							uc001wsk.2		NA																	0				lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(2455-2457)TCT>TGT		bromodomain adjacent to zinc finger domain, 1A							108.0	109.0	109.0					14																	35245502		2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35245502G>C	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.2456C>G	14.37:g.35245502G>C	ENSP00000371859:p.Ser819Cys					BAZ1A_uc001wsl.2_Missense_Mutation_p.S787C	p.S819C	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	18	3024	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		819			Interaction with SMARCA5.		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.2456C>G	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635911	0.87760	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.74106	-0.81;-0.8;-0.8	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.84842	0.0808	10	0.87932	D	0	.	19.9525	0.97208	0.0:0.0:1.0:0.0	.	787;819	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	C	787;819;819;471	ENSP00000351555:S787C;ENSP00000371859:S819C;ENSP00000353458:S819C	ENSP00000351555:S787C	S	-	2	0	BAZ1A	34315253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.474000	0.97718	2.719000	0.93026	0.655000	0.94253	TCT		0.408	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			3	49	0	0	0	0.004672	0	3	49				
LRFN5	145581	broad.mit.edu	37	14	42356775	42356775	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:42356775C>A	ENST00000298119.4	+	3	2136	c.947C>A	c.(946-948)cCt>cAt	p.P316H	LRFN5_ENST00000554120.1_Missense_Mutation_p.P316H|LRFN5_ENST00000554171.1_Missense_Mutation_p.P316H	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	316	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GACCCTGAGCCTGCAATTCAC	0.463										HNSCC(30;0.082)																													uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(946-948)CCT>CAT		leucine rich repeat and fibronectin type III							119.0	115.0	117.0					14																	42356775		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356775C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.947C>A	14.37:g.42356775C>A	ENSP00000298119:p.Pro316His	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.P316H	p.P316H	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2145	+			316			Extracellular (Potential).|Ig-like.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.947C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442045	0.63067	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.73681	-0.77;-0.77;-0.77	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000029	D	0.93341	0.7877	H	0.99909	4.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96322	0.9237	10	0.87932	D	0	.	17.0338	0.86468	0.0:1.0:0.0:0.0	.	316;316	G3V364;Q96NI6	.;LRFN5_HUMAN	H	316	ENSP00000298119:P316H;ENSP00000451897:P316H;ENSP00000451067:P316H	ENSP00000298119:P316H	P	+	2	0	LRFN5	41426525	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.680000	0.91292	0.563000	0.77884	CCT		0.463	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		19	25	1	0	8.00594e-06	0.007413	9.81913e-06	19	25				
PTGDR	5729	broad.mit.edu	37	14	52734683	52734683	+	Missense_Mutation	SNP	C	C	T	rs572021133		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:52734683C>T	ENST00000306051.2	+	1	253	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	PTGDR_ENST00000553372.1_Missense_Mutation_p.R51W	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	51					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GTGGTGCTCGCGGCGTCCACT	0.701													C|||	1	0.000199681	0.0	0.0	5008	,	,		13352	0.001		0.0	False		,,,				2504	0.0						uc001wzq.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(151-153)CGG>TGG		prostaglandin D2 receptor	Nedocromil(DB00716)						25.0	27.0	26.0					14																	52734683		2201	4299	6500	SO:0001583	missense	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52734683C>T	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.151C>T	14.37:g.52734683C>T	ENSP00000303424:p.Arg51Trp						p.R51W	NM_000953	NP_000944	Q13258	PD2R_HUMAN			1	253	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		51			Cytoplasmic (Potential).		G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	37	c.151C>T	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.352157	0.24512	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.24151	1.87;2.23	4.38	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.658250	0.12615	N	0.453482	T	0.19765	0.0475	N	0.16656	0.425	0.09310	N	1	P	0.48640	0.913	B	0.43990	0.438	T	0.07539	-1.0767	10	0.87932	D	0	-13.2195	11.1512	0.48460	0.0:0.812:0.188:0.0	.	51	Q13258	PD2R_HUMAN	W	51	ENSP00000303424:R51W;ENSP00000452408:R51W	ENSP00000303424:R51W	R	+	1	2	PTGDR	51804433	0.000000	0.05858	0.090000	0.20809	0.036000	0.12997	0.446000	0.21694	2.375000	0.81037	0.563000	0.77884	CGG		0.701	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		7	26	0	0	0	0.001984	0	7	26				
ERH	2079	broad.mit.edu	37	14	69847288	69847288	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:69847288G>A	ENST00000557016.1	-	4	675	c.282C>T	c.(280-282)ctC>ctT	p.L94L	ERH_ENST00000216520.6_5'UTR	NM_004450.2	NP_004441.1	P84090	ERH_HUMAN	enhancer of rudimentary homolog (Drosophila)	94					cell cycle (GO:0007049)|nucleobase-containing compound metabolic process (GO:0006139)|osteoblast differentiation (GO:0001649)|pyrimidine nucleoside metabolic process (GO:0006213)	membrane (GO:0016020)|midbody (GO:0030496)	poly(A) RNA binding (GO:0044822)								all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507)		GCCGACGAAGGAGCACGTAGA	0.507																																							uc001xlc.2		NA																	0					0						c.(280-282)CTC>CTT		enhancer of rudimentary homolog							142.0	132.0	135.0					14																	69847288		2203	4300	6503	SO:0001819	synonymous_variant	2079				cell cycle|pyrimidine nucleoside metabolic process	midbody	protein binding	g.chr14:69847288G>A	BC014301	CCDS9794.1	14q24.1	2011-05-18	2001-11-28		ENSG00000100632	ENSG00000100632			3447	protein-coding gene	gene with protein product		601191	"""enhancer of rudimentary (Drosophila) homolog"""			8786099, 9074495	Standard	NM_004450		Approved	DROER	uc001xlc.2	P84090		ENST00000557016.1:c.282C>T	14.37:g.69847288G>A							p.L94L	NM_004450	NP_004441	P84090	ERH_HUMAN		all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507)	4	353	-			94					B2R5H2|P70659|Q14259	Silent	SNP	ENST00000557016.1	37	c.282C>T	CCDS9794.1																																																																																				0.507	ERH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412990.1	NM_004450		17	59	0	0	0	0.007413	0	17	59				
SNW1	22938	broad.mit.edu	37	14	78189553	78189553	+	Silent	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:78189553C>G	ENST00000261531.7	-	11	1163	c.1101G>C	c.(1099-1101)cgG>cgC	p.R367R	SNW1_ENST00000555761.1_Silent_p.R367R|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Silent_p.R205R	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	367					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TGGAAAGATTCCGGTCATGCT	0.507																																							uc001xuf.2		NA																	0				ovary(1)	1						c.(1099-1101)CGG>CGC		SKI-interacting protein							154.0	122.0	133.0					14																	78189553		2203	4300	6503	SO:0001819	synonymous_variant	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78189553C>G	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1101G>C	14.37:g.78189553C>G						SNW1_uc010tvm.1_Silent_p.R292R|SNW1_uc010asu.2_Silent_p.R205R|SNW1_uc010tvn.1_Silent_p.R367R	p.R367R	NM_012245	NP_036377	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	11	1128	-			367					A8K8A9|Q13483|Q32N03|Q5D0D6	Silent	SNP	ENST00000261531.7	37	c.1101G>C	CCDS9867.1																																																																																				0.507	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		13	80	0	0	0	0.00245	0	13	80				
NRXN3	9369	broad.mit.edu	37	14	79454429	79454429	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:79454429G>T	ENST00000554719.1	+	12	2579	c.2088G>T	c.(2086-2088)gaG>gaT	p.E696D	NRXN3_ENST00000335750.5_Missense_Mutation_p.E696D	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AACAATGGGAGGGCTTCACCT	0.443																																							uc001xun.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(2086-2088)GAG>GAT		neurexin 3 isoform 1 precursor							143.0	133.0	137.0					14																	79454429		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79454429G>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.2088G>T	14.37:g.79454429G>T	ENSP00000451648:p.Glu696Asp					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.E821D	p.E696D	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	12	2579	+		Renal(4;0.00876)	1069			EGF-like 3.|Extracellular (Potential).		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.2088G>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	4.234	0.042325	0.08196	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.77489	-1.1;-1.1	5.84	2.29	0.28610	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.85155	0.5632	.	.	.	0.42460	D	0.992783	D;B	0.71674	0.998;0.001	D;B	0.75484	0.986;0.008	T	0.82489	-0.0432	8	.	.	.	.	8.5702	0.33565	0.7282:0.0:0.2718:0.0	.	1069;696	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	D	1069;1058;696;696	ENSP00000451648:E696D;ENSP00000338349:E696D	.	E	+	3	2	NRXN3	78524182	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.677000	0.54619	0.154000	0.19237	-0.291000	0.09656	GAG		0.443	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		10	28	1	0	9.70103e-10	0.008291	1.29347e-09	10	28				
UNC79	57578	broad.mit.edu	37	14	94084571	94084571	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:94084571C>A	ENST00000393151.2	+	29	4258	c.4258C>A	c.(4258-4260)Ctg>Atg	p.L1420M	UNC79_ENST00000553484.1_Missense_Mutation_p.L1442M|UNC79_ENST00000555664.1_Missense_Mutation_p.L1420M|UNC79_ENST00000256339.4_Missense_Mutation_p.L1243M			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1420					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CAGCAAGATCCTGCTGCATCT	0.438																																							uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(3793-3795)CTG>ATG		hypothetical protein LOC57578							114.0	97.0	102.0					14																	94084571		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94084571C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4258C>A	14.37:g.94084571C>A	ENSP00000376858:p.Leu1420Met					KIAA1409_uc001ybs.1_Missense_Mutation_p.L1243M	p.L1265M	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	27	3876	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1420					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.3793C>A		.	.	.	.	.	.	.	.	.	.	C	12.91	2.080648	0.36758	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	6.02	5.07	0.68467	.	0.123057	0.52532	D	0.000070	T	0.28995	0.0720	L	0.29908	0.895	0.32102	N	0.59042	B	0.12013	0.005	B	0.12837	0.008	T	0.18618	-1.0331	10	0.42905	T	0.14	-13.7324	7.9471	0.29993	0.2574:0.5004:0.2422:0.0	.	1442	C9JQL1	.	M	1243;1420;1442;1420;1442	ENSP00000256339:L1243M;ENSP00000450868:L1420M;ENSP00000451360:L1442M;ENSP00000376858:L1420M	ENSP00000256339:L1243M	L	+	1	2	KIAA1409	93154324	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.530000	0.53539	2.865000	0.98341	0.655000	0.94253	CTG		0.438	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		8	29	1	0	5.4927e-09	0.004482	7.18748e-09	8	29				
DYNC1H1	1778	broad.mit.edu	37	14	102474660	102474660	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:102474660C>T	ENST00000360184.4	+	29	6127	c.5963C>T	c.(5962-5964)cCc>cTc	p.P1988L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1988	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CATTCCAACCCCAACTACGAC	0.473																																							uc001yks.2		NA																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(5962-5964)CCC>CTC		cytoplasmic dynein 1 heavy chain 1							59.0	52.0	55.0					14																	102474660		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102474660C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5963C>T	14.37:g.102474660C>T	ENSP00000348965:p.Pro1988Leu						p.P1988L	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			29	6127	+			1988			AAA 1 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.5963C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324773	0.60634	.	.	ENSG00000197102	ENST00000360184	T	0.38722	1.12	5.32	5.32	0.75619	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	N	0.22421	0.69	0.80722	D	1	P	0.35468	0.503	B	0.37833	0.259	T	0.06954	-1.0798	10	0.24483	T	0.36	.	19.3797	0.94527	0.0:1.0:0.0:0.0	.	1988	Q14204	DYHC1_HUMAN	L	1988	ENSP00000348965:P1988L	ENSP00000348965:P1988L	P	+	2	0	DYNC1H1	101544413	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.729000	0.84864	2.644000	0.89710	0.650000	0.86243	CCC		0.473	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		8	32	0	0	0	0.006214	0	8	32				
INF2	64423	broad.mit.edu	37	14	105169539	105169539	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:105169539C>T	ENST00000392634.4	+	3	601	c.489C>T	c.(487-489)gaC>gaT	p.D163D	INF2_ENST00000398337.4_Silent_p.D163D|INF2_ENST00000330634.7_Silent_p.D163D	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	163	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGACCCTGGACGCCCTGGACC	0.662																																							uc001ypb.2		NA																	0					0						c.(487-489)GAC>GAT		inverted formin 2 isoform 1							80.0	88.0	85.0					14																	105169539		2128	4217	6345	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105169539C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.489C>T	14.37:g.105169539C>T						INF2_uc010tyi.1_Silent_p.D163D|INF2_uc001ypc.2_Silent_p.D163D|INF2_uc001yoy.3_Silent_p.D163D|INF2_uc001ypa.2_Silent_p.D163D	p.D163D	NM_022489	NP_071934	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	3	632	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	163			GBD/FH3.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.489C>T	CCDS9989.2																																																																																				0.662	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		8	53	0	0	0	0.00308	0	8	53				
AKT1	207	broad.mit.edu	37	14	105239420	105239420	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:105239420C>A	ENST00000554581.1	-	10	2447	c.967G>T	c.(967-969)Gac>Tac	p.D323Y	AKT1_ENST00000555458.1_Missense_Mutation_p.D18Y|AKT1_ENST00000554192.1_Intron|RP11-982M15.2_ENST00000557223.1_RNA|AKT1_ENST00000349310.3_Missense_Mutation_p.D323Y|AKT1_ENST00000544168.1_Missense_Mutation_p.D261Y|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000402615.2_Missense_Mutation_p.D323Y|AKT1_ENST00000554848.1_Missense_Mutation_p.D323Y|AKT1_ENST00000407796.2_Missense_Mutation_p.D323Y|AKT1_ENST00000555528.1_Missense_Mutation_p.D323Y			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TAGTCATTGTCCTCCAGCACC	0.632		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																		uc001ypk.2		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			breast|colorectal|ovarian|NSCLC		0				breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134						c.(967-969)GAC>TAC		AKT1 kinase	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						94.0	67.0	76.0					14																	105239420		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105239420C>A	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.967G>T	14.37:g.105239420C>A	ENSP00000451828:p.Asp323Tyr					INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.D323Y|AKT1_uc010axa.2_Missense_Mutation_p.D323Y|AKT1_uc001ypm.2_Missense_Mutation_p.D323Y|AKT1_uc001ypn.2_Missense_Mutation_p.D323Y|AKT1_uc001ypj.2_5'Flank|AKT1_uc010tyk.1_Missense_Mutation_p.D261Y	p.D323Y	NM_005163	NP_005154	P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	11	1521	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	323			Protein kinase.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.967G>T	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.198690	0.79015	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000555458;ENST00000544168;ENST00000554848	T;T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78	3.28	3.28	0.37604	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.38852	0.1056	L	0.33753	1.03	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.40664	-0.9551	10	0.87932	D	0	.	15.0673	0.72005	0.0:1.0:0.0:0.0	.	323	P31749	AKT1_HUMAN	Y	323;323;323;323;323;18;261;323	ENSP00000451828:D323Y;ENSP00000384293:D323Y;ENSP00000270202:D323Y;ENSP00000385326:D323Y;ENSP00000450688:D323Y;ENSP00000451470:D18Y;ENSP00000443897:D261Y;ENSP00000451166:D323Y	ENSP00000270202:D323Y	D	-	1	0	AKT1	104310465	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.714000	0.68422	1.820000	0.53075	0.401000	0.26515	GAC		0.632	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		7	41	1	0	8.12818e-05	0.001984	9.6334e-05	7	41				
IGHV3-42	28427	broad.mit.edu	37	14	106919436	106919436	+	IGR	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:106919436A>T								IGHV4-39 (41310 upstream) : IGHV3-43 (6751 downstream)																							TCGGGGACCCACCCAGGCTGT	0.582																																							uc010tyt.1		NA																	0					0						c.e242+1		Parts of antibodies, mostly variable regions.																																				SO:0001628	intergenic_variant	8755							g.chr14:106919436A>T																													14.37:g.106919436A>T						uc010tyu.1_Intron								242		-									Splice_Site	SNP		37	c.10445_splice																																																																																				0	0.582									11	30	0	0	0	0.000978	0	11	30				
SNRPN	6638	broad.mit.edu	37	15	25213175	25213175	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr15:25213175A>T	ENST00000346403.6	+	0	321				SNURF_ENST00000338094.6_Missense_Mutation_p.R69S|SNURF_ENST00000338327.4_Missense_Mutation_p.R69S|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000400100.1_De_novo_Start_InFrame|SNRPN_ENST00000577565.1_De_novo_Start_OutOfFrame|SNRPN_ENST00000400097.1_De_novo_Start_InFrame|SNURF_ENST00000577949.1_Missense_Mutation_p.R69S|SNRPN_ENST00000400098.1_De_novo_Start_InFrame|SNURF_ENST00000551312.2_Missense_Mutation_p.R69S|SNRPN_ENST00000390687.4_De_novo_Start_InFrame|SNRPN_ENST00000554227.2_De_novo_Start_OutOfFrame			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N						response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		AGACACCAAGAGGTGGTTAAA	0.458									Prader-Willi syndrome																														uc001ywu.2		NA																	0					0						c.(205-207)AGA>AGT		SNRPN upstream reading frame protein							106.0	94.0	98.0					15																	25213175		2203	4300	6503			8926		Familial Cancer Database	Prader-Labhart-Willi syndrome		nucleus		g.chr15:25213175A>T	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000346403.6:c.-122A>T	15.37:g.25213175A>T						SNRPN_uc001ywp.1_5'UTR|SNRPN_uc001ywq.1_5'UTR|SNRPN_uc001ywr.1_5'UTR|SNRPN_uc001yws.1_Intron|SNRPN_uc001ywt.1_5'UTR|SNRPN_uc001ywv.1_5'UTR|SNRPN_uc001yww.1_5'UTR|SNRPN_uc001ywx.1_5'UTR|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_RNA|SNRPN_uc001ywy.1_Missense_Mutation_p.R69S	p.R69S	NM_022804	NP_073715	Q9Y675	SNURF_HUMAN		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)	3	333	+		all_cancers(20;1.4e-21)|Breast(32;0.000625)	69					B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000346403.6	37	c.207A>T	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.730903	0.48939	.	.	ENSG00000214265	ENST00000338094;ENST00000338327	.	.	.	3.52	2.4	0.29515	.	.	.	.	.	T	0.51890	0.1701	.	.	.	0.28069	N	0.932653	P	0.52842	0.956	P	0.58970	0.849	T	0.43310	-0.9399	7	0.87932	D	0	-5.4251	5.5149	0.16900	0.8738:0.0:0.1262:0.0	.	69	Q9Y675	SNURF_HUMAN	S	69	.	ENSP00000336543:R69S	R	+	3	2	SNURF	22764268	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.812000	0.27211	0.725000	0.32318	0.533000	0.62120	AGA		0.458	SNRPN-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446297.1	NM_003097		6	36	0	0	0	0.001168	0	6	36				
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478																																							uc010uaf.1		NA																	0					NA						c.(286-288)CTT>CTC		SubName: Full=Putative uncharacterized protein ENSP00000383535; Flags: Fragment;																																						0							g.chr15:28599954A>G																													15.37:g.28599954A>G							p.L96L							4	306	-									Silent	SNP	ENST00000568624.1	37	c.288T>C																																																																																					0.478	RP11-483E23.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431212.1			3	19	0	0	0	0.000248	0	3	19				
EXD1	161829	broad.mit.edu	37	15	41482169	41482169	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr15:41482169C>T	ENST00000314992.5	-	9	1038	c.848G>A	c.(847-849)cGc>cAc	p.R283H	RN7SL497P_ENST00000476341.2_RNA|EXD1_ENST00000458580.2_Missense_Mutation_p.R341H	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	283							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						AGACCCTTCGCGATACGTGTT	0.542																																							uc001znk.2		NA																	0				ovary(1)	1						c.(847-849)CGC>CAC		exonuclease 3'-5' domain containing 1							145.0	131.0	135.0					15																	41482169		2203	4300	6503	SO:0001583	missense	161829				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr15:41482169C>T	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.848G>A	15.37:g.41482169C>T	ENSP00000321029:p.Arg283His					EXD1_uc001znj.2_Missense_Mutation_p.R81H|EXD1_uc010ucv.1_Missense_Mutation_p.R341H	p.R283H	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN			9	1039	-			283					A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	ENST00000314992.5	37	c.848G>A	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	C	9.390	1.075336	0.20227	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.57273	0.42;0.41	6.07	4.21	0.49690	Ribonuclease H-like (1);	0.350624	0.26742	N	0.022734	T	0.67373	0.2886	M	0.72894	2.215	0.09310	N	1	P;P;D	0.89917	0.751;0.703;1.0	B;B;D	0.68765	0.153;0.162;0.96	T	0.59899	-0.7367	10	0.72032	D	0.01	-5.6681	9.5481	0.39293	0.0:0.7801:0.0:0.2199	.	341;283;81	B7Z839;Q8NHP7;Q8NHP7-2	.;EXD1_HUMAN;.	H	283;341	ENSP00000321029:R283H;ENSP00000415056:R341H	ENSP00000321029:R283H	R	-	2	0	EXD1	39269461	0.802000	0.28943	0.001000	0.08648	0.006000	0.05464	2.129000	0.42055	0.908000	0.36671	0.655000	0.94253	CGC		0.542	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596		11	73	0	0	0	0.001368	0	11	73				
SLTM	79811	broad.mit.edu	37	15	59192029	59192029	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr15:59192029T>A	ENST00000380516.2	-	7	784	c.697A>T	c.(697-699)Acg>Tcg	p.T233S	SLTM_ENST00000557950.1_5'Flank|SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	233	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCACAGTCGTATGAGCTTCC	0.473																																							uc002afp.2		NA																	0				ovary(1)	1						c.(697-699)ACG>TCG		modulator of estrogen induced transcription							151.0	129.0	136.0					15																	59192029		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59192029T>A	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.697A>T	15.37:g.59192029T>A	ENSP00000369887:p.Thr233Ser					SLTM_uc002afo.2_Missense_Mutation_p.T215S|SLTM_uc002afq.2_Intron|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Missense_Mutation_p.T132S	p.T233S	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN			7	785	-			233			Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.697A>T	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	T	2.506	-0.314055	0.05422	.	.	ENSG00000137776	ENST00000380516;ENST00000249736	D;D	0.88664	-2.41;-2.41	5.89	0.184	0.15086	.	0.233838	0.30168	N	0.010242	T	0.71434	0.3339	N	0.10874	0.06	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.55224	-0.8174	10	0.28530	T	0.3	.	3.239	0.06774	0.3068:0.2586:0.0:0.4346	.	215;233	C9IZZ3;Q9NWH9	.;SLTM_HUMAN	S	233;215	ENSP00000369887:T233S;ENSP00000249736:T215S	ENSP00000249736:T215S	T	-	1	0	SLTM	56979321	0.922000	0.31269	1.000000	0.80357	0.864000	0.49448	-0.031000	0.12287	0.389000	0.25086	-0.462000	0.05337	ACG		0.473	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		10	57	0	0	0	0.000978	0	10	57				
SLTM	79811	broad.mit.edu	37	15	59192032	59192032	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr15:59192032G>A	ENST00000380516.2	-	7	781	c.694C>T	c.(694-696)Cat>Tat	p.H232Y	SLTM_ENST00000557950.1_5'Flank|SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	232	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACAGTCGTATGAGCTTCCATC	0.473																																							uc002afp.2		NA																	0				ovary(1)	1						c.(694-696)CAT>TAT		modulator of estrogen induced transcription							150.0	128.0	135.0					15																	59192032		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59192032G>A	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.694C>T	15.37:g.59192032G>A	ENSP00000369887:p.His232Tyr					SLTM_uc002afo.2_Missense_Mutation_p.H214Y|SLTM_uc002afq.2_Intron|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Missense_Mutation_p.H131Y	p.H232Y	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN			7	782	-			232			Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.694C>T	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	G	8.955	0.969091	0.18659	.	.	ENSG00000137776	ENST00000380516;ENST00000249736	D;D	0.88741	-2.42;-2.42	5.89	4.77	0.60923	.	0.096756	0.44688	D	0.000421	T	0.78635	0.4314	N	0.08118	0	0.80722	D	1	B;B	0.19583	0.037;0.037	B;B	0.16722	0.016;0.016	T	0.73786	-0.3873	10	0.66056	D	0.02	.	12.527	0.56091	0.0:0.0:0.2749:0.7251	.	214;232	C9IZZ3;Q9NWH9	.;SLTM_HUMAN	Y	232;214	ENSP00000369887:H232Y;ENSP00000249736:H214Y	ENSP00000249736:H214Y	H	-	1	0	SLTM	56979324	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	2.541000	0.45735	1.062000	0.40625	-0.467000	0.05162	CAT		0.473	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		11	59	0	0	0	0.000978	0	11	59				
TICRR	90381	broad.mit.edu	37	15	90166906	90166906	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr15:90166906G>C	ENST00000268138.7	+	20	3470	c.3365G>C	c.(3364-3366)aGa>aCa	p.R1122T	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.R1121T			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1122					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										ACTACACCAAGAAGGATCTCT	0.413																																							uc002boe.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(3364-3366)AGA>ACA		leucine-rich repeat kinase 1							158.0	156.0	157.0					15																	90166906		1839	4088	5927	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90166906G>C	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3365G>C	15.37:g.90166906G>C	ENSP00000268138:p.Arg1122Thr					C15orf42_uc010upv.1_RNA	p.R1122T	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		20	3365	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1122					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.3365G>C	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055874	0.36277	.	.	ENSG00000140534	ENST00000268138	T	0.10960	2.82	5.27	3.39	0.38822	.	0.652456	0.15836	N	0.242248	T	0.15955	0.0384	L	0.51422	1.61	0.09310	N	0.999993	D	0.56746	0.977	P	0.55923	0.787	T	0.10428	-1.0630	10	0.13853	T	0.58	-2.886	6.6848	0.23138	0.1487:0.0:0.7084:0.1428	.	1122	Q7Z2Z1	TICRR_HUMAN	T	1122	ENSP00000268138:R1122T	ENSP00000268138:R1122T	R	+	2	0	C15orf42	87967910	0.020000	0.18652	0.006000	0.13384	0.055000	0.15305	1.346000	0.33964	0.583000	0.29574	0.563000	0.77884	AGA		0.413	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		5	168	0	0	0	0.000602	0	5	168				
ANPEP	290	broad.mit.edu	37	15	90328672	90328672	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr15:90328672C>A	ENST00000300060.6	-	21	3125	c.2812G>T	c.(2812-2814)Gag>Tag	p.E938*		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	938	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	AGGGCTTGCTCCAGGGCCCGG	0.552																																					NSCLC(30;827 977 2459 19669 26125)	NSCLC(30;827 977 2459 19669 26125)	uc002bop.3		NA																	0				ovary(3)|skin(1)	4						c.(2812-2814)GAG>TAG		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						196.0	182.0	187.0					15																	90328672		2200	4299	6499	SO:0001587	stop_gained	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90328672C>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2812G>T	15.37:g.90328672C>A	ENSP00000300060:p.Glu938*						p.E938*	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		21	3104	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		938			Extracellular.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Nonsense_Mutation	SNP	ENST00000300060.6	37	c.2812G>T	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	C	42	9.614477	0.99220	.	.	ENSG00000166825	ENST00000300060	.	.	.	5.21	5.21	0.72293	.	0.306092	0.34088	N	0.004267	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	16.3032	0.82832	0.0:1.0:0.0:0.0	.	.	.	.	X	938	.	ENSP00000300060:E938X	E	-	1	0	ANPEP	88129676	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.693000	0.68264	2.716000	0.92895	0.650000	0.86243	GAG		0.552	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			21	91	1	0	5.26018e-13	0.001882	7.26111e-13	21	91				
PRSS22	64063	broad.mit.edu	37	16	2903248	2903248	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:2903248G>C	ENST00000161006.3	-	6	865	c.800C>G	c.(799-801)gCc>gGc	p.A267G	PRSS22_ENST00000571228.1_Missense_Mutation_p.A157G|PRSS22_ENST00000574768.1_5'Flank	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	267	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GTTGCGCTCGGCACAGCCCTC	0.716																																							uc002cry.1		NA																	0				central_nervous_system(1)	1						c.(799-801)GCC>GGC		protease, serine, 22 precursor							17.0	18.0	18.0					16																	2903248		2191	4283	6474	SO:0001583	missense	64063				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2903248G>C	AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"""Serine peptidases / Serine peptidases"""	14368	protein-coding gene	gene with protein product	"""brain-specific serine protease 4"""	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.800C>G	16.37:g.2903248G>C	ENSP00000161006:p.Ala267Gly					PRSS22_uc002crz.1_Missense_Mutation_p.A157G	p.A267G	NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN			6	866	-			267			Peptidase S1.		O43342|Q6UXE0	Missense_Mutation	SNP	ENST00000161006.3	37	c.800C>G	CCDS10481.1	.	.	.	.	.	.	.	.	.	.	g	15.46	2.839043	0.51057	.	.	ENSG00000005001	ENST00000161006	T	0.80214	-1.35	4.05	4.05	0.47172	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.45867	D	0.000327	T	0.80352	0.4607	N	0.13235	0.315	0.58432	D	0.99999	D	0.69078	0.997	D	0.80764	0.994	T	0.81564	-0.0875	10	0.41790	T	0.15	.	14.1573	0.65426	0.0:0.0:1.0:0.0	.	267	Q9GZN4	BSSP4_HUMAN	G	267	ENSP00000161006:A267G	ENSP00000161006:A267G	A	-	2	0	PRSS22	2843249	1.000000	0.71417	0.992000	0.48379	0.750000	0.42670	8.884000	0.92432	1.977000	0.57605	0.456000	0.33151	GCC		0.716	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119		6	17	0	0	0	0.001984	0	6	17				
CREBBP	1387	broad.mit.edu	37	16	3817818	3817818	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:3817818C>G	ENST00000262367.5	-	16	3962	c.3153G>C	c.(3151-3153)aaG>aaC	p.K1051N	CREBBP_ENST00000382070.3_Missense_Mutation_p.K1013N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1051					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTTCAGGTTTCTTTTCATCCA	0.433			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																uc002cvv.2		NA		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(3151-3153)AAG>AAC		CREB binding protein isoform a							250.0	223.0	232.0					16																	3817818		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybsyndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3817818C>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3153G>C	16.37:g.3817818C>G	ENSP00000262367:p.Lys1051Asn					CREBBP_uc002cvw.2_Missense_Mutation_p.K1013N	p.K1051N	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	16	3357	-		Ovarian(90;0.0266)	1051					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.3153G>C	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157458	0.57259	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84516	-1.86;-1.79	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.83746	0.5321	L	0.54323	1.7	0.80722	D	1	P;P	0.43477	0.808;0.808	B;B	0.39771	0.309;0.203	T	0.83113	-0.0122	10	0.37606	T	0.19	-25.5922	20.0086	0.97443	0.0:1.0:0.0:0.0	.	1081;1051	Q4LE28;Q92793	.;CBP_HUMAN	N	1051;1081;1013	ENSP00000262367:K1051N;ENSP00000371502:K1013N	ENSP00000262367:K1051N	K	-	3	2	CREBBP	3757819	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.090000	0.41682	2.808000	0.96608	0.655000	0.94253	AAG		0.433	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		3	87	0	0	0	0.004672	0	3	87				
DEXI	28955	broad.mit.edu	37	16	11038605	11038605	+	5'Flank	SNP	G	G	A	rs202188885		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:11038605G>A	ENST00000331808.4	-	0	0				CLEC16A_ENST00000409552.3_Missense_Mutation_p.G11R|CLEC16A_ENST00000409790.1_Missense_Mutation_p.G11R|RP11-876N24.4_ENST00000573379.1_RNA|DEXI_ENST00000469379.1_5'Flank	NM_014015.3	NP_054734.2	O95424	DEXI_HUMAN	Dexi homolog (mouse)											endometrium(2)|lung(1)	3						CTGGGTGGGCGGGGGCCATGG	0.711																																							uc002dao.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(31-33)GGG>AGG		C-type lectin domain family 16, member A							9.0	14.0	12.0					16																	11038605		1901	4082	5983	SO:0001631	upstream_gene_variant	23274							g.chr16:11038605G>A	AF108145	CCDS10545.1	16p13.13	2010-02-17			ENSG00000182108	ENSG00000182108			13267	protein-coding gene	gene with protein product	"""dexamethasone-induced transcript"""					11306815, 11472984	Standard	NM_014015		Approved	MYLE	uc002dal.3	O95424	OTTHUMG00000129785		16.37:g.11038605G>A	Exception_encountered					CLEC16A_uc002dan.3_Missense_Mutation_p.G11R|DEXI_uc002dal.2_5'Flank	p.G11R	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			1	261	+			11					B2RAA7	Missense_Mutation	SNP	ENST00000331808.4	37	c.31G>A	CCDS10545.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616144	0.66672	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.49432	0.78	4.59	1.57	0.23409	.	0.050092	0.85682	N	0.000000	T	0.61813	0.2377	M	0.68593	2.085	0.80722	D	1	D;B	0.89917	1.0;0.017	D;B	0.91635	0.999;0.012	T	0.60692	-0.7213	10	0.87932	D	0	-20.9052	9.0679	0.36475	0.2405:0.0:0.7595:0.0	.	11;11	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	R	11	ENSP00000387122:G11R	ENSP00000386495:G11R	G	+	1	0	CLEC16A	10946106	1.000000	0.71417	0.996000	0.52242	0.318000	0.28184	6.438000	0.73426	0.196000	0.20367	0.603000	0.83216	GGG		0.711	DEXI-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252009.1	NM_014015		3	12	0	0	0	0.004672	0	3	12				
UMOD	7369	broad.mit.edu	37	16	20347991	20347991	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:20347991T>A	ENST00000570689.1	-	9	1945	c.1799A>T	c.(1798-1800)aAc>aTc	p.N600I	UMOD_ENST00000424589.1_Missense_Mutation_p.N633I|UMOD_ENST00000302509.4_Missense_Mutation_p.N600I|UMOD_ENST00000396142.2_Missense_Mutation_p.N600I|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396138.4_Missense_Mutation_p.N649I|UMOD_ENST00000396134.2_Missense_Mutation_p.N633I			P07911	UROM_HUMAN	uromodulin	600					cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGGACCCAAGTTCAGGACACG	0.527																																							uc002dgz.2		NA																	0				ovary(1)|skin(1)	2						c.(1798-1800)AAC>ATC		uromodulin precursor							121.0	100.0	107.0					16																	20347991		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20347991T>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1799A>T	16.37:g.20347991T>A	ENSP00000460548:p.Asn600Ile					UMOD_uc002dha.2_Missense_Mutation_p.N600I|UMOD_uc002dhb.2_Missense_Mutation_p.N633I	p.N600I	NM_003361	NP_003352	P07911	UROM_HUMAN			9	1928	-			600					B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1799A>T	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.347699	0.61183	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	4.33	3.22	0.36961	.	0.000000	0.51477	D	0.000086	D	0.85531	0.5718	M	0.62723	1.935	0.35332	D	0.785681	D;D	0.76494	0.999;0.995	D;D	0.85130	0.997;0.947	D	0.87179	0.2226	10	0.72032	D	0.01	-37.9697	7.1557	0.25637	0.199:0.0:0.0:0.801	.	633;600	E9PEA4;P07911	.;UROM_HUMAN	I	600;633;633;600;578;600	ENSP00000379438:N633I;ENSP00000416346:N633I;ENSP00000306279:N600I;ENSP00000379446:N600I	ENSP00000306279:N600I	N	-	2	0	UMOD	20255492	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.311000	0.51919	0.767000	0.33267	-0.333000	0.08304	AAC		0.527	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			18	31	0	0	0	0.00278	0	18	31				
CACNG3	10368	broad.mit.edu	37	16	24366257	24366257	+	Silent	SNP	C	C	T	rs147734423		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:24366257C>T	ENST00000005284.3	+	3	1601	c.399C>T	c.(397-399)aaC>aaT	p.N133N		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	133					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCAGACACAACGTCATTCTCA	0.587																																							uc002dmf.2		NA																	0					0						c.(397-399)AAC>AAT		voltage-dependent calcium channel gamma-3		C		0,4394		0,0,2197	64.0	55.0	58.0		399	-5.2	0.9	16	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CACNG3	NM_006539.3		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		133/316	24366257	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24366257C>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.399C>T	16.37:g.24366257C>T							p.N133N	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	3	1599	+			133						Silent	SNP	ENST00000005284.3	37	c.399C>T	CCDS10620.1																																																																																				0.587	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		7	51	0	0	0	0.004482	0	7	51				
TNRC6A	27327	broad.mit.edu	37	16	24762097	24762097	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:24762097A>C	ENST00000395799.3	+	3	233	c.104A>C	c.(103-105)aAa>aCa	p.K35T	TNRC6A_ENST00000315183.7_Missense_Mutation_p.K35T|TNRC6A_ENST00000562829.1_Intron	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	35	Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		aaaaagaaaaaagacgacaag	0.294																																							uc002dmm.2		NA																	0				ovary(2)	2						c.(103-105)AAA>ACA		trinucleotide repeat containing 6A							70.0	76.0	74.0					16																	24762097		1818	4068	5886	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24762097A>C	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.104A>C	16.37:g.24762097A>C	ENSP00000379144:p.Lys35Thr						p.K35T	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	3	218	+			35			Potential.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.104A>C	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	A	16.80	3.223205	0.58668	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.16597	2.39;2.33	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000018	T	0.13415	0.0325	L	0.39898	1.24	0.80722	D	1	P	0.47762	0.9	B	0.36534	0.227	T	0.02179	-1.1200	10	0.72032	D	0.01	-6.0494	11.2576	0.49063	1.0:0.0:0.0:0.0	.	35	Q8NDV7	TNR6A_HUMAN	T	35	ENSP00000326900:K35T;ENSP00000379144:K35T	ENSP00000326900:K35T	K	+	2	0	TNRC6A	24669598	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.272000	0.58908	2.223000	0.72356	0.528000	0.53228	AAA		0.294	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		3	21	0	0	0	0.004672	0	3	21				
ZNF276	92822	broad.mit.edu	37	16	89799734	89799734	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:89799734C>A	ENST00000443381.2	+	7	1291	c.1194C>A	c.(1192-1194)agC>agA	p.S398R	ZNF276_ENST00000289816.5_Missense_Mutation_p.S323R|ZNF276_ENST00000446326.2_Missense_Mutation_p.S184R|ZNF276_ENST00000568064.1_Missense_Mutation_p.S306R	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AGAGTGAAAGCAAAGAAGCCA	0.448																																							uc002fos.3		NA																	0					0						c.(1192-1194)AGC>AGA		zinc finger protein 276 isoform a							104.0	122.0	116.0					16																	89799734		2198	4300	6498	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89799734C>A	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1194C>A	16.37:g.89799734C>A	ENSP00000415836:p.Ser398Arg					ZNF276_uc010ciq.2_Missense_Mutation_p.S184R|ZNF276_uc002fop.2_Missense_Mutation_p.S306R|ZNF276_uc002foq.3_Missense_Mutation_p.S323R|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_Missense_Mutation_p.S184R|ZNF276_uc010cis.2_Missense_Mutation_p.S157R|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_Missense_Mutation_p.S236R|ZNF276_uc010cit.1_Missense_Mutation_p.S157R	p.S398R	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	7	1291	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	398					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.1194C>A	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968847	0.53614	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.06849	3.25;3.35;3.4	5.88	3.9	0.45041	.	0.387666	0.33144	N	0.005236	T	0.08268	0.0206	L	0.27053	0.805	0.35396	D	0.791177	B;P;P;P	0.49559	0.437;0.877;0.664;0.925	B;B;B;P	0.48840	0.22;0.388;0.22;0.592	T	0.41716	-0.9493	10	0.21014	T	0.42	-7.9174	8.8055	0.34934	0.0:0.7357:0.1255:0.1389	.	236;398;184;323	B4DIT3;Q8N554;A8K186;Q8N554-2	.;ZN276_HUMAN;.;.	R	184;323;398	ENSP00000415999:S184R;ENSP00000289816:S323R;ENSP00000415836:S398R	ENSP00000289816:S323R	S	+	3	2	ZNF276	88327235	1.000000	0.71417	0.996000	0.52242	0.475000	0.33008	1.124000	0.31320	0.798000	0.33994	0.655000	0.94253	AGC		0.448	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		14	93	1	0	0.000219431	0.00245	0.000258327	14	93				
SMYD4	114826	broad.mit.edu	37	17	1703946	1703946	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:1703946C>T	ENST00000305513.7	-	5	909	c.742G>A	c.(742-744)Gtt>Att	p.V248I		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	248	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TTTGTGGCAACGAGACAGCGA	0.517																																							uc002ftm.3		NA																	0				skin(3)|kidney(2)	5						c.(742-744)GTT>ATT		SET and MYND domain containing 4							146.0	141.0	142.0					17																	1703946		2203	4300	6503	SO:0001583	missense	114826						zinc ion binding	g.chr17:1703946C>T	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.742G>A	17.37:g.1703946C>T	ENSP00000304360:p.Val248Ile					SMYD4_uc002ftn.1_Missense_Mutation_p.V103I	p.V248I	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN			5	910	-			248					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	ENST00000305513.7	37	c.742G>A	CCDS11013.1	.	.	.	.	.	.	.	.	.	.	C	2.859	-0.236672	0.05944	.	.	ENSG00000186532	ENST00000305513	D	0.82526	-1.62	5.99	-5.09	0.02920	SET domain (2);	0.664583	0.16451	N	0.213871	T	0.69233	0.3088	L	0.31664	0.95	0.09310	N	1	B	0.25441	0.126	B	0.23150	0.044	T	0.50575	-0.8812	10	0.22706	T	0.39	-1.307	15.1006	0.72273	0.0952:0.6866:0.0:0.2183	.	248	Q8IYR2	SMYD4_HUMAN	I	248	ENSP00000304360:V248I	ENSP00000304360:V248I	V	-	1	0	SMYD4	1650696	0.058000	0.20735	0.001000	0.08648	0.249000	0.25844	-0.586000	0.05787	-0.923000	0.03785	-0.302000	0.09304	GTT		0.517	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		14	104	0	0	0	0.004007	0	14	104				
SMG6	23293	broad.mit.edu	37	17	2202976	2202976	+	Silent	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:2202976T>C	ENST00000263073.6	-	2	1121	c.1071A>G	c.(1069-1071)gaA>gaG	p.E357E	SMG6_ENST00000544865.1_Silent_p.E326E	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	357	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGTTCATGGCTTCTGCATCGA	0.498																																					Melanoma(59;28 1088 11621 25887 46638 50814)	Melanoma(59;28 1088 11621 25887 46638 50814)	uc002fub.1		NA																	0				central_nervous_system(2)|lung(1)|kidney(1)	4						c.(1069-1071)GAA>GAG		Smg-6 homolog, nonsense mediated mRNA decay							106.0	89.0	94.0					17																	2202976		2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2202976T>C	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1071A>G	17.37:g.2202976T>C						SMG6_uc002fud.1_Silent_p.E326E	p.E357E	NM_017575	NP_060045	Q86US8	EST1A_HUMAN			2	1126	-			357			Interaction with telomeric DNA.		B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.1071A>G	CCDS11016.1																																																																																				0.498	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			16	60	0	0	0	0.003163	0	16	60				
MYBBP1A	10514	broad.mit.edu	37	17	4446343	4446343	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:4446343G>A	ENST00000254718.4	-	20	3063	c.2757C>T	c.(2755-2757)acC>acT	p.T919T	MYBBP1A_ENST00000381556.2_Silent_p.T919T			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	919					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGTAGAGGGCGGTGGGGGAGT	0.667																																							uc002fyb.3		NA																	0				ovary(1)|skin(1)	2						c.(2755-2757)ACC>ACT		MYB binding protein 1a isoform 2							50.0	59.0	56.0					17																	4446343		2203	4300	6503	SO:0001819	synonymous_variant	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4446343G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.2757C>T	17.37:g.4446343G>A						MYBBP1A_uc002fxz.3_Silent_p.T919T|MYBBP1A_uc002fya.3_5'Flank|MYBBP1A_uc010vsa.1_5'UTR	p.T919T	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN			20	2819	-			919					Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	c.2757C>T	CCDS11046.1																																																																																				0.667	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		13	95	0	0	0	0.004007	0	13	95				
KIAA0753	9851	broad.mit.edu	37	17	6531765	6531765	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:6531765C>T	ENST00000361413.3	-	3	748	c.390G>A	c.(388-390)caG>caA	p.Q130Q	KIAA0753_ENST00000542606.1_5'UTR|KIAA0753_ENST00000572370.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	130						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GTCCACACTTCTGAGAGCTTT	0.433																																							uc002gde.3		NA																	0					0						c.(388-390)CAG>CAA		hypothetical protein LOC9851							80.0	78.0	79.0					17																	6531765		1968	4146	6114	SO:0001819	synonymous_variant	9851					centrosome		g.chr17:6531765C>T		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.390G>A	17.37:g.6531765C>T						KIAA0753_uc010clo.2_5'UTR|KIAA0753_uc010vte.1_5'UTR	p.Q130Q	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	3	749	-			130					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Silent	SNP	ENST00000361413.3	37	c.390G>A	CCDS42247.1																																																																																				0.433	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		4	41	0	0	0	0.000602	0	4	41				
TP53	7157	broad.mit.edu	37	17	7578500	7578500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:7578500G>A	ENST00000269305.4	-	5	619	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	TP53_ENST00000413465.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q144*	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	144	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; 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.Q144*(36)|p.0?(8)|p.Q144fs*25(3)|p.Q144K(2)|p.Q12*(2)|p.Q144fs*26(2)|p.Q51*(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.Q12fs*25(1)|p.V143_S149del(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)	ACCCACAGCTGCACAGGGCAG	0.597		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)	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		65	Substitution - Nonsense(40)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(2)	p.Q144*(29)|p.Q144L(8)|p.0?(7)|p.Q144H(4)|p.Q144P(4)|p.Q144R(4)|p.Q144fs*26(3)|p.Q144K(2)|p.Q144del(2)|p.Q144Q(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.V143_S149del(1)	lung(11)|upper_aerodigestive_tract(10)|oesophagus(8)|breast(8)|endometrium(6)|ovary(5)|bone(4)|large_intestine(3)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|soft_tissue(1)|liver(1)|skin(1)|prostate(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						c.(430-432)CAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							57.0	56.0	57.0					17																	7578500		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|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.chr17:7578500G>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.430C>T	17.37:g.7578500G>A	ENSP00000269305:p.Gln144*	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_Nonsense_Mutation_p.Q144*|TP53_uc002gih.2_Nonsense_Mutation_p.Q144*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q12*|TP53_uc010cng.1_Nonsense_Mutation_p.Q12*|TP53_uc002gii.1_Nonsense_Mutation_p.Q12*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q144*|TP53_uc010cni.1_Nonsense_Mutation_p.Q144*|TP53_uc002gij.2_Nonsense_Mutation_p.Q144*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.Q51*|TP53_uc002gio.2_Nonsense_Mutation_p.Q12*|TP53_uc010vug.1_Nonsense_Mutation_p.Q105*	p.Q144*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	624	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	144		Q -> P (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.430C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071217	0.55646	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	5.48	0.80851	.	0.121732	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.9139	17.2272	0.86973	0.0:0.0:1.0:0.0	.	.	.	.	X	144;144;144;144;144;144;133;51;12;51;12;144	.	ENSP00000269305:Q144X	Q	-	1	0	TP53	7519225	1.000000	0.71417	0.908000	0.35775	0.017000	0.09413	7.953000	0.87836	2.733000	0.93635	0.655000	0.94253	CAG		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	36	0	0	0	0.004482	0	8	36				
AURKB	9212	broad.mit.edu	37	17	8109862	8109862	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:8109862C>A	ENST00000585124.1	-	7	726	c.633G>T	c.(631-633)aaG>aaT	p.K211N	AURKB_ENST00000534871.1_Missense_Mutation_p.K170N|AURKB_ENST00000578549.1_Missense_Mutation_p.K179N|AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000316199.6_Missense_Mutation_p.K212N	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						TCAGCTCTCCCTTGAGCCCTA	0.547																																					NSCLC(134;1161 2470 43664 51568)	NSCLC(134;1161 2470 43664 51568)	uc002gkm.2		NA																	0				lung(2)|breast(1)|central_nervous_system(1)	4						c.(631-633)AAG>AAT		aurora kinase B							132.0	102.0	112.0					17																	8109862		2203	4300	6503	SO:0001583	missense	9212				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:8109862C>A	AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11390	protein-coding gene	gene with protein product	"""aurora-B"", ""aurora-1"", ""protein phosphatase 1, regulatory subunit 48"""	604970	"""serine/threonine kinase 12"""	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.633G>T	17.37:g.8109862C>A	ENSP00000463999:p.Lys211Asn					AURKB_uc010cnu.2_Missense_Mutation_p.K31N|AURKB_uc002gkn.2_Missense_Mutation_p.K212N|AURKB_uc010vuu.1_Missense_Mutation_p.K170N|AURKB_uc002gko.2_RNA	p.K211N	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN			7	694	-			211			Protein kinase.		B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	ENST00000585124.1	37	c.633G>T	CCDS11134.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620406	0.28801	.	.	ENSG00000178999	ENST00000316199;ENST00000534871	T	0.06687	3.27	5.55	0.745	0.18359	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.346810	0.30538	N	0.009410	T	0.02727	0.0082	N	0.04508	-0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44787	-0.9305	10	0.07030	T	0.85	-31.1078	6.9844	0.24721	0.0:0.4584:0.0:0.5416	.	211;211	C7G533;Q96GD4	.;AURKB_HUMAN	N	211;170	ENSP00000443869:K170N	ENSP00000313950:K211N	K	-	3	2	AURKB	8050587	0.002000	0.14202	0.998000	0.56505	0.997000	0.91878	-1.210000	0.02999	0.316000	0.23135	0.655000	0.94253	AAG		0.547	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000226995.2	NM_004217		11	31	1	0	1.08611e-07	0.000978	1.38518e-07	11	31				
TRPV2	51393	broad.mit.edu	37	17	16342531	16342531	+	IGR	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:16342531G>C	ENST00000338560.7	+	0	2808				C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTGCGCCCGCGTGGCTTTCGC	0.687																																						Pancreas(170;1717 2016 9057 29149 45168)	uc002gqc.2		NA																	0					0						c.(76-78)GTG>CTG		RecName: Full=Putative uncharacterized protein C17orf45, mitochondrial; Flags: Precursor;							20.0	25.0	24.0					17																	16342531		1787	3743	5530	SO:0001628	intergenic_variant	125144							g.chr17:16342531G>C	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989		17.37:g.16342531G>C						NCRNA00188_uc010vwf.1_Intron|NCRNA00188_uc010vwg.1_Intron|NCRNA00188_uc010vwh.1_Intron|NCRNA00188_uc010cpd.2_Intron|NCRNA00188_uc002gqb.3_Intron|NCRNA00188_uc010vwi.1_Intron|NCRNA00188_uc010vwj.1_Intron|NCRNA00188_uc002gqa.3_Intron|NCRNA00188_uc010vwk.1_Intron|NCRNA00188_uc010vwl.1_Intron|NCRNA00188_uc010vwm.1_Intron|NCRNA00188_uc010vwn.1_Intron|NCRNA00188_uc010cpe.2_Intron|NCRNA00188_uc010vwo.1_Intron|NCRNA00188_uc010vwp.1_Intron|SNORD49B_uc010cpf.2_5'Flank|SNORD49A_uc010cpg.1_5'Flank|SNORD65_uc002gqf.1_5'Flank	p.V26L	NR_027667						1	231	+								A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.76G>C	CCDS32576.1																																																																																				0.687	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		8	45	0	0	0	0.006214	0	8	45				
SPAG5	10615	broad.mit.edu	37	17	26925630	26925630	+	Silent	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:26925630A>T	ENST00000321765.5	-	2	407	c.75T>A	c.(73-75)ccT>ccA	p.P25P	SPAG5-AS1_ENST00000556050.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	25					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GTTCACGGAGAGGAGTTCTCA	0.587																																							uc002hbq.2		NA																	0				central_nervous_system(1)	1						c.(73-75)CCT>CCA		sperm associated antigen 5							79.0	83.0	81.0					17																	26925630		2203	4300	6503	SO:0001819	synonymous_variant	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26925630A>T	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.75T>A	17.37:g.26925630A>T						SGK494_uc010waq.1_Intron	p.P25P	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN			2	167	-	Lung NSC(42;0.00431)		25					O95213|Q9BWE8|Q9NT17|Q9UFE6	Silent	SNP	ENST00000321765.5	37	c.75T>A	CCDS32594.1																																																																																				0.587	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		9	38	0	0	0	0.008291	0	9	38				
TMEM132E	124842	broad.mit.edu	37	17	32957127	32957127	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:32957127C>G	ENST00000321639.5	+	6	1497	c.1169C>G	c.(1168-1170)tCc>tGc	p.S390C		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	390						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CTGGACATCTCCGCCCTAGTG	0.572																																							uc002hif.2		NA																	0				central_nervous_system(1)	1						c.(1168-1170)TCC>TGC		transmembrane protein 132E precursor							111.0	78.0	89.0					17																	32957127		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32957127C>G	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1169C>G	17.37:g.32957127C>G	ENSP00000316532:p.Ser390Cys						p.S390C	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	6	1497	+			390			Extracellular (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.1169C>G	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987225	0.74589	.	.	ENSG00000181291	ENST00000321639	T	0.29397	1.57	4.99	4.99	0.66335	.	0.286651	0.40554	N	0.001077	T	0.54255	0.1847	M	0.66297	2.02	0.51012	D	0.999908	D	0.89917	1.0	D	0.69479	0.964	T	0.56074	-0.8039	10	0.72032	D	0.01	-11.2379	17.8105	0.88614	0.0:1.0:0.0:0.0	.	390	Q6IEE7	T132E_HUMAN	C	390	ENSP00000316532:S390C	ENSP00000316532:S390C	S	+	2	0	TMEM132E	29981240	1.000000	0.71417	0.371000	0.25978	0.312000	0.27988	7.595000	0.82710	2.757000	0.94681	0.643000	0.83706	TCC		0.572	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		4	29	0	0	0	0.000248	0	4	29				
AOC3	8639	broad.mit.edu	37	17	41004733	41004733	+	Missense_Mutation	SNP	C	C	T	rs530957915		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:41004733C>T	ENST00000308423.2	+	1	1533	c.1373C>T	c.(1372-1374)aCg>aTg	p.T458M	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	458					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CTTGCGGAAACGGTGCTGGTC	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20240	0.0		0.0	False		,,,				2504	0.0				NSCLC(3;192 220 10664 11501 16477)	NSCLC(3;192 220 10664 11501 16477)	uc002ibv.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1372-1374)ACG>ATG		amine oxidase, copper containing 3 precursor	Hydralazine(DB01275)|Phenelzine(DB00780)						143.0	125.0	131.0					17																	41004733		2203	4300	6503	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41004733C>T	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1373C>T	17.37:g.41004733C>T	ENSP00000312326:p.Thr458Met						p.T458M	NM_003734	NP_003725	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1533	+		Breast(137;0.000143)	458			Extracellular (Potential).		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.1373C>T	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	C	7.603	0.673093	0.14776	.	.	ENSG00000131471	ENST00000308423	T	0.04156	3.69	5.17	3.04	0.35103	Copper amine oxidase, C-terminal (3);	0.115184	0.64402	D	0.000017	T	0.12050	0.0293	M	0.80183	2.485	0.09310	N	1	P	0.40066	0.701	P	0.47102	0.537	T	0.02498	-1.1150	10	0.51188	T	0.08	.	9.2562	0.37584	0.2423:0.6869:0.0:0.0708	.	458	Q16853	AOC3_HUMAN	M	458	ENSP00000312326:T458M	ENSP00000312326:T458M	T	+	2	0	AOC3	38258259	0.000000	0.05858	0.093000	0.20910	0.058000	0.15608	0.242000	0.18087	1.333000	0.45449	-0.216000	0.12614	ACG		0.527	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		10	82	0	0	0	0.008291	0	10	82				
SLC4A1	6521	broad.mit.edu	37	17	42337806	42337806	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:42337806C>A	ENST00000262418.6	-	6	606	c.451G>T	c.(451-453)Gag>Tag	p.E151*	SLC4A1_ENST00000471005.1_5'UTR|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	151	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCAGCTCCTCTCGGTCCTGA	0.607																																							uc002igf.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(451-453)GAG>TAG		solute carrier family 4, anion exchanger, member							49.0	46.0	47.0					17																	42337806		2203	4300	6503	SO:0001587	stop_gained	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42337806C>A		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.451G>T	17.37:g.42337806C>A	ENSP00000262418:p.Glu151*					SLC4A1_uc002igg.3_Nonsense_Mutation_p.E151*	p.E151*	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	6	600	-		Breast(137;0.014)|Prostate(33;0.0181)	151			Cytoplasmic.		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Nonsense_Mutation	SNP	ENST00000262418.6	37	c.451G>T	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	c	33	5.216694	0.95104	.	.	ENSG00000004939	ENST00000262418	.	.	.	5.38	5.38	0.77491	.	0.544006	0.18492	N	0.139610	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	17.9021	0.88907	0.0:1.0:0.0:0.0	rs55708136	.	.	.	X	151	.	ENSP00000262418:E151X	E	-	1	0	SLC4A1	39693332	0.628000	0.27138	0.981000	0.43875	0.595000	0.36748	4.856000	0.62932	2.526000	0.85167	0.462000	0.41574	GAG		0.607	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		9	19	1	0	1.12685e-05	0.004482	1.37726e-05	9	19				
WNT9B	7484	broad.mit.edu	37	17	44952530	44952530	+	Missense_Mutation	SNP	G	G	A	rs554846731	byFrequency	TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:44952530G>A	ENST00000290015.2	+	3	451	c.398G>A	c.(397-399)cGg>cAg	p.R133Q	WNT9B_ENST00000393461.2_Missense_Mutation_p.R133Q	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	133					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			ACCCTGGCCCGGGCCTGCAGC	0.677																																							uc002ikw.1		NA																	0		p.R133W(1)		lung(2)	2						c.(397-399)CGG>CAG		wingless-type MMTV integration site family,							75.0	88.0	83.0					17																	44952530		2203	4299	6502	SO:0001583	missense	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44952530G>A	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.398G>A	17.37:g.44952530G>A	ENSP00000290015:p.Arg133Gln					WNT9B_uc002ikx.1_Missense_Mutation_p.R133Q	p.R133Q	NM_003396	NP_003387	O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		3	435	+			133					Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	c.398G>A	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.576826	0.86645	.	.	ENSG00000158955	ENST00000376843;ENST00000393461;ENST00000290015	T;T	0.77358	-1.09;-1.09	4.61	4.61	0.57282	.	0.055210	0.64402	D	0.000001	T	0.80132	0.4567	L	0.49571	1.57	0.43787	D	0.996326	D;D	0.67145	0.996;0.993	P;P	0.56216	0.794;0.738	T	0.80843	-0.1201	10	0.56958	D	0.05	.	11.4913	0.50383	0.0827:0.0:0.9173:0.0	.	133;133	E7EPC3;O14905	.;WNT9B_HUMAN	Q	127;133;133	ENSP00000377105:R133Q;ENSP00000290015:R133Q	ENSP00000290015:R133Q	R	+	2	0	WNT9B	42307529	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.327000	0.65881	2.550000	0.86006	0.462000	0.41574	CGG		0.677	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		8	199	0	0	0	0.00308	0	8	199				
DNAI2	64446	broad.mit.edu	37	17	72301535	72301536	+	Missense_Mutation	DNP	CG	CG	TT	rs375896715|rs536685250	byFrequency	TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:72301535_72301536CG>TT	ENST00000311014.6	+	9	1232_1233	c.1165_1166CG>TT	c.(1165-1167)CGc>TTc	p.R389F	DNAI2_ENST00000307504.5_Missense_Mutation_p.R246F|DNAI2_ENST00000582036.1_Missense_Mutation_p.R389F|DNAI2_ENST00000579490.1_Missense_Mutation_p.R446F|DNAI2_ENST00000446837.2_Missense_Mutation_p.R389F|AC103809.1_ENST00000516976.1_RNA|RP11-647F2.2_ENST00000585167.1_RNA			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	389					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTGGACAGCCCGCATTTGGTCT	0.594									Kartagener syndrome																														uc002jkf.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1165-1167)CGC>TTC		dynein, axonemal, intermediate polypeptide 2																																				SO:0001583	missense	64446	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72301535_72301536CG>TT	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		Exception_encountered	17.37:g.72301535_72301536delinsTT	ENSP00000308312:p.Arg389Phe					DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_3'UTR|DNAI2_uc002jki.2_RNA	p.R389F	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			9	1264_1265	+			389			WD 4.		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	DNP	ENST00000311014.6	37	c.1165_1166CG>TT	CCDS11697.1																																																																																				0.594	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		16	30	0	0	0	0.004672	0	16	30				
ENGASE	64772	broad.mit.edu	37	17	77077994	77077994	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:77077994C>T	ENST00000579016.1	+	7	887	c.887C>T	c.(886-888)tCc>tTc	p.S296F	ENGASE_ENST00000539857.2_Missense_Mutation_p.S110F	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	296	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.					cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TTCTTTGATTCCTGCGACGGC	0.622																																							uc002jwv.2		NA																	0				skin(1)	1						c.(886-888)TCC>TTC		endo-beta-N-acetylglucosaminidase							100.0	111.0	108.0					17																	77077994		1949	4156	6105	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77077994C>T	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.887C>T	17.37:g.77077994C>T	ENSP00000462333:p.Ser296Phe					ENGASE_uc002jwu.1_Missense_Mutation_p.S296F|ENGASE_uc010wtz.1_Missense_Mutation_p.S110F|ENGASE_uc002jww.2_5'UTR	p.S296F	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN			7	895	+			296			BRCT.		Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.887C>T	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877319	0.51801	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	4.34	3.35	0.38373	Glycoside hydrolase, family 85 (1);	0.325029	0.32785	N	0.005645	T	0.65943	0.2740	M	0.79475	2.455	0.37768	D	0.926558	D;P;P	0.55800	0.973;0.952;0.866	P;P;P	0.54815	0.721;0.761;0.656	T	0.68127	-0.5491	9	0.33940	T	0.23	-0.4418	8.8603	0.35253	0.0:0.7648:0.1523:0.0829	.	110;296;296	B4DVK0;Q8NFI3;Q8NFI3-3	.;ENASE_HUMAN;.	F	296	.	ENSP00000308158:S296F	S	+	2	0	ENGASE	74589589	0.558000	0.26554	0.696000	0.30242	0.364000	0.29643	2.844000	0.48246	1.026000	0.39733	0.313000	0.20887	TCC		0.622	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		11	122	0	0	0	0.000978	0	11	122				
DSC3	1825	broad.mit.edu	37	18	28588469	28588469	+	Missense_Mutation	SNP	C	C	A	rs202139208		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr18:28588469C>A	ENST00000360428.4	-	10	1366	c.1286G>T	c.(1285-1287)cGt>cTt	p.R429L	DSC3_ENST00000434452.1_Missense_Mutation_p.R429L	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	429	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GTTCACTTGACGGTTTTCTTC	0.388																																							uc002kwj.3		NA																	0				ovary(2)|skin(2)	4						c.(1285-1287)CGT>CTT		desmocollin 3 isoform Dsc3a preproprotein							112.0	108.0	109.0					18																	28588469		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28588469C>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1286G>T	18.37:g.28588469C>A	ENSP00000353608:p.Arg429Leu					DSC3_uc002kwi.3_Missense_Mutation_p.R429L	p.R429L	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		10	1441	-			429			Cadherin 3.|Extracellular (Potential).		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.1286G>T	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955554	0.53293	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.53640	0.61;0.61	5.35	-5.38	0.02673	Cadherin (5);Cadherin-like (1);	1.304660	0.05893	N	0.628619	T	0.60625	0.2283	M	0.89968	3.075	0.09310	N	1	B;P	0.38582	0.203;0.638	B;B	0.43251	0.231;0.413	T	0.67158	-0.5741	10	0.87932	D	0	.	14.0876	0.64968	0.0:0.5291:0.0:0.4709	.	429;429	Q14574;Q14574-2	DSC3_HUMAN;.	L	429	ENSP00000353608:R429L;ENSP00000392068:R429L	ENSP00000353608:R429L	R	-	2	0	DSC3	26842467	0.000000	0.05858	0.002000	0.10522	0.936000	0.57629	-0.492000	0.06467	-1.131000	0.02910	-1.851000	0.00568	CGT		0.388	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		3	32	1	0	0.004672	0.004672	0.0052374	3	32				
ASXL3	80816	broad.mit.edu	37	18	31323805	31323805	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr18:31323805T>A	ENST00000269197.5	+	12	3993	c.3993T>A	c.(3991-3993)agT>agA	p.S1331R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1331	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAGTGCTAGTAACTTAGTCT	0.463																																							uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(3991-3993)AGT>AGA		additional sex combs like 3							190.0	192.0	191.0					18																	31323805		2042	4207	6249	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323805T>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3993T>A	18.37:g.31323805T>A	ENSP00000269197:p.Ser1331Arg					ASXL3_uc002kxq.2_Missense_Mutation_p.S1038R	p.S1331R	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	4048	+			1331			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.3993T>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	T	9.635	1.137452	0.21123	.	.	ENSG00000141431	ENST00000269197	T	0.14144	2.53	5.92	2.24	0.28232	.	.	.	.	.	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	B	0.23735	0.09	B	0.18263	0.021	T	0.39440	-0.9614	9	0.31617	T	0.26	.	9.0914	0.36612	0.0:0.3642:0.0:0.6358	.	1331	Q9C0F0	ASXL3_HUMAN	R	1331	ENSP00000269197:S1331R	ENSP00000269197:S1331R	S	+	3	2	ASXL3	29577803	0.040000	0.19996	0.001000	0.08648	0.937000	0.57800	0.003000	0.13083	0.150000	0.19136	0.533000	0.62120	AGT		0.463	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			56	99	0	0	0	0.00361	0	56	99				
MUC16	94025	broad.mit.edu	37	19	9089456	9089456	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:9089456T>A	ENST00000397910.4	-	1	2562	c.2359A>T	c.(2359-2361)Aat>Tat	p.N787Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	787	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGTTGCATTTCTGACTCTT	0.507																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(2359-2361)AAT>TAT		mucin 16							228.0	220.0	223.0					19																	9089456		2021	4189	6210	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089456T>A	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.2359A>T	19.37:g.9089456T>A	ENSP00000381008:p.Asn787Tyr						p.N787Y	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	2563	-			787			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2359A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	1.779	-0.482444	0.04383	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	1.45	0.394	0.16299	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	.	.	.	D	0.53462	0.96	B	0.34452	0.183	T	0.48811	-0.9002	8	0.87932	D	0	.	3.2167	0.06701	0.0:0.2538:0.0:0.7462	.	787	B5ME49	.	Y	787	ENSP00000381008:N787Y	ENSP00000381008:N787Y	N	-	1	0	MUC16	8950456	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.055000	0.11807	0.059000	0.16252	0.172000	0.16884	AAT		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		26	127	0	0	0	0.005443	0	26	127				
STX10	8677	broad.mit.edu	37	19	13260564	13260564	+	Silent	SNP	G	G	C	rs143886134		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:13260564G>C	ENST00000587230.1	-	2	247	c.183C>G	c.(181-183)ctC>ctG	p.L61L	IER2_ENST00000587885.1_5'Flank|IER2_ENST00000292433.3_5'Flank|STX10_ENST00000242770.5_Silent_p.L61L|IER2_ENST00000588173.1_5'Flank|STX10_ENST00000589083.1_Silent_p.L61L|STX10_ENST00000343587.5_Silent_p.L61L	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	61					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			CCAGGTCCTCGAGGTCCCACT	0.652											OREG0025290	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010xnb.1		NA																	0					0						c.(181-183)CTC>CTG		syntaxin 10							95.0	86.0	89.0					19																	13260564		2203	4300	6503	SO:0001819	synonymous_variant	8677				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity	g.chr19:13260564G>C	AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.183C>G	19.37:g.13260564G>C			OREG0025290	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	686	STX10_uc002mwn.2_5'Flank|STX10_uc002mwo.2_5'Flank|STX10_uc010xna.1_5'Flank|STX10_uc010xnc.1_Missense_Mutation_p.S10W|IER2_uc002mwr.2_5'Flank	p.L61L	NM_003765	NP_003756	O60499	STX10_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)		2	183	-			61			Cytoplasmic (Potential).|Potential.		A6NC41|Q6IAP4|Q96AE8	Silent	SNP	ENST00000587230.1	37	c.183C>G	CCDS32922.1																																																																																				0.652	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452918.1	NM_003765		3	78	0	0	0	0.004672	0	3	78				
EMR3	84658	broad.mit.edu	37	19	14736360	14736360	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:14736360C>G	ENST00000253673.5	-	15	1964	c.1864G>C	c.(1864-1866)Gag>Cag	p.E622Q	EMR3_ENST00000599900.1_Missense_Mutation_p.E407Q|EMR3_ENST00000344373.4_Missense_Mutation_p.E570Q|EMR3_ENST00000443157.2_Missense_Mutation_p.E496Q	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	622					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GTCTCAGACTCAGATTTTGAT	0.388																																							uc002mzi.3		NA																	0				ovary(5)|skin(1)	6						c.(1864-1866)GAG>CAG		egf-like module-containing mucin-like receptor							244.0	217.0	226.0					19																	14736360		2203	4300	6503	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14736360C>G	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1864G>C	19.37:g.14736360C>G	ENSP00000253673:p.Glu622Gln					EMR3_uc010dzp.2_Missense_Mutation_p.E570Q|EMR3_uc010xnv.1_Missense_Mutation_p.E496Q	p.E622Q	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN			15	2012	-			622			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000253673.5	37	c.1864G>C	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129994	0.56721	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.37584	1.19;1.19;1.19	3.79	0.427	0.16489	.	.	.	.	.	T	0.37652	0.1011	L	0.34521	1.04	0.09310	N	1	P;D;P	0.58620	0.848;0.983;0.458	P;P;B	0.58780	0.494;0.845;0.206	T	0.17623	-1.0363	9	0.48119	T	0.1	.	5.8119	0.18471	0.0:0.6424:0.0:0.3576	.	496;570;622	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	Q	496;622;570	ENSP00000396208:E496Q;ENSP00000253673:E622Q;ENSP00000340758:E570Q	ENSP00000253673:E622Q	E	-	1	0	EMR3	14597360	0.470000	0.25854	0.005000	0.12908	0.587000	0.36485	0.299000	0.19138	0.074000	0.16767	0.557000	0.71058	GAG		0.388	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		10	71	0	0	0	0.000978	0	10	71				
EMR2	30817	broad.mit.edu	37	19	14866474	14866474	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:14866474A>G	ENST00000315576.3	-	13	1859	c.1408T>C	c.(1408-1410)Tcc>Ccc	p.S470P	EMR2_ENST00000353005.1_Missense_Mutation_p.S328P|EMR2_ENST00000601345.1_Missense_Mutation_p.S459P|EMR2_ENST00000594076.1_Missense_Mutation_p.S377P|EMR2_ENST00000596991.2_Missense_Mutation_p.S459P|EMR2_ENST00000594294.1_Missense_Mutation_p.S421P|EMR2_ENST00000392965.3_Missense_Mutation_p.S470P|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000353876.1_Missense_Mutation_p.S377P|EMR2_ENST00000595839.1_Missense_Mutation_p.S328P|EMR2_ENST00000392967.2_Missense_Mutation_p.S459P|EMR2_ENST00000346057.1_Missense_Mutation_p.S421P	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	470					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						ACACGGTGGGAGAAGGTGAAG	0.587																																							uc002mzp.1		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(1408-1410)TCC>CCC		egf-like module containing, mucin-like, hormone							177.0	157.0	164.0					19																	14866474		2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14866474A>G	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1408T>C	19.37:g.14866474A>G	ENSP00000319883:p.Ser470Pro					EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Missense_Mutation_p.S470P|EMR2_uc002mzo.1_Missense_Mutation_p.S459P|EMR2_uc002mzq.1_Missense_Mutation_p.S410P|EMR2_uc002mzr.1_Missense_Mutation_p.S421P|EMR2_uc002mzs.1_Missense_Mutation_p.S328P|EMR2_uc002mzt.1_Missense_Mutation_p.S366P|EMR2_uc002mzu.1_Missense_Mutation_p.S377P|EMR2_uc010xnx.1_Intron|EMR2_uc010xny.1_Intron	p.S470P	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN			13	1864	-			470			Extracellular (Potential).		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.1408T>C	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246799	0.59103	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965	T;T;T;T;T;T	0.78003	-1.01;-1.14;-0.54;0.25;0.97;1.21	3.38	2.31	0.28768	.	.	.	.	.	D	0.83179	0.5198	M	0.82517	2.595	0.80722	D	1	P;P;P;P;P;B;P;P	0.46912	0.837;0.731;0.59;0.823;0.731;0.43;0.612;0.886	B;P;B;P;P;B;B;P	0.55871	0.25;0.477;0.327;0.477;0.477;0.222;0.284;0.786	T	0.79538	-0.1762	9	0.40728	T	0.16	.	6.8545	0.24032	0.7615:0.2385:0.0:0.0	.	470;377;470;328;421;470;470;459	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	P	470;459;421;377;328;470	ENSP00000319883:S470P;ENSP00000376694:S459P;ENSP00000263380:S421P;ENSP00000319454:S377P;ENSP00000319838:S328P;ENSP00000376692:S470P	ENSP00000319883:S470P	S	-	1	0	EMR2	14727474	0.161000	0.22892	0.981000	0.43875	0.156000	0.22039	0.032000	0.13732	0.417000	0.25871	0.491000	0.48974	TCC		0.587	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			9	89	0	0	0	0.004482	0	9	89				
ARMC6	93436	broad.mit.edu	37	19	19168365	19168365	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:19168365C>T	ENST00000535612.1	+	9	1866	c.1434C>T	c.(1432-1434)gcC>gcT	p.A478A	ARMC6_ENST00000546344.1_Silent_p.A385A|ARMC6_ENST00000392336.3_Silent_p.A478A|ARMC6_ENST00000392335.2_Silent_p.A453A|ARMC6_ENST00000269932.6_Silent_p.A453A	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	478					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CCAAGGCCGCCCTGCGGGACC	0.672																																							uc002nld.2		NA																	0					0						c.(1432-1434)GCC>GCT		armadillo repeat containing 6							58.0	57.0	57.0					19																	19168365		2203	4299	6502	SO:0001819	synonymous_variant	93436						protein binding	g.chr19:19168365C>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1434C>T	19.37:g.19168365C>T						ARMC6_uc002nlc.2_Silent_p.A453A|ARMC6_uc010xql.1_Silent_p.A385A|ARMC6_uc002nle.2_Silent_p.A453A|ARMC6_uc010xqm.1_Silent_p.A478A	p.A478A	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		9	1782	+			478					B4DI98|O94999|Q9BTH5	Silent	SNP	ENST00000535612.1	37	c.1434C>T	CCDS56089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.354|3.354	-0.131862|-0.131862	0.06753|0.06753	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000379532|ENST00000535478;ENST00000540634	.|.	.|.	.|.	4.09|4.09	1.73|1.73	0.24493|0.24493	.|.	.|.	.|.	.|.	.|.	T|T	0.53690|0.53690	0.1812|0.1812	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42732|0.42732	-0.9434|-0.9434	5|4	0.46703|.	T|.	0.11|.	-19.4935|-19.4935	6.1867|6.1867	0.20502|0.20502	0.4011:0.5041:0.0:0.0947|0.4011:0.5041:0.0:0.0947	.|.	.|.	.|.	.|.	L|S	388|122;58	.|.	ENSP00000368847:P388L|.	P|P	+|+	2|1	0|0	ARMC6|ARMC6	19029365|19029365	0.080000|0.080000	0.21391|0.21391	0.981000|0.981000	0.43875|0.43875	0.223000|0.223000	0.24884|0.24884	-0.182000|-0.182000	0.09726|0.09726	0.337000|0.337000	0.23665|0.23665	0.555000|0.555000	0.69702|0.69702	CCC|CCT		0.672	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		11	58	0	0	0	0.000978	0	11	58				
GMIP	51291	broad.mit.edu	37	19	19753363	19753363	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:19753363C>T	ENST00000203556.4	-	2	222	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	GMIP_ENST00000587238.1_Missense_Mutation_p.E29K|GMIP_ENST00000445806.2_Missense_Mutation_p.E29K	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	29					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AGTGAGATTTCGAGGTTGTCC	0.567																																							uc002nnd.2		NA																	0				ovary(1)	1						c.(85-87)GAA>AAA		GEM interacting protein							170.0	144.0	153.0					19																	19753363		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19753363C>T	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.85G>A	19.37:g.19753363C>T	ENSP00000203556:p.Glu29Lys					GMIP_uc010xrb.1_Missense_Mutation_p.E29K|GMIP_uc010xrc.1_Missense_Mutation_p.E29K	p.E29K	NM_016573	NP_057657	Q9P107	GMIP_HUMAN			2	202	-			29					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.85G>A	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746262	0.89663	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.24151	1.87;1.87	4.66	4.66	0.58398	.	0.000000	0.42172	D	0.000751	T	0.43787	0.1263	L	0.60455	1.87	0.48452	D	0.999654	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.66351	0.943;0.943;0.943	T	0.23261	-1.0193	10	0.42905	T	0.14	-21.9511	13.4083	0.60926	0.0:1.0:0.0:0.0	.	29;29;29	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	K	29	ENSP00000203556:E29K;ENSP00000397075:E29K	ENSP00000203556:E29K	E	-	1	0	GMIP	19614363	0.999000	0.42202	0.991000	0.47740	0.989000	0.77384	5.146000	0.64845	2.303000	0.77524	0.555000	0.69702	GAA		0.567	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		25	117	0	0	0	0.004656	0	25	117				
ZNF99	7652	broad.mit.edu	37	19	22940023	22940023	+	IGR	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:22940023C>A	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.G770W|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGTTTCTTCCCAGTATAAATT	0.373																																							uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(2308-2310)GGG>TGG		zinc finger protein 99							45.0	51.0	49.0					19																	22940023		2071	4240	6311	SO:0001628	intergenic_variant	7652							g.chr19:22940023C>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22940023C>A							p.G770W	NM_001080409	NP_001073878					6	2308	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2308G>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	13.76	2.334147	0.41297	.	.	ENSG00000213973	ENST00000397104	T	0.26810	1.71	1.21	1.21	0.21127	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52240	0.1722	M	0.88842	2.985	0.36770	D	0.883756	D	0.89917	1.0	D	0.91635	0.999	T	0.62996	-0.6735	9	0.87932	D	0	.	9.3354	0.38047	0.0:1.0:0.0:0.0	.	770	A8MXY4	ZNF99_HUMAN	W	770	ENSP00000380293:G770W	ENSP00000380293:G770W	G	-	1	0	ZNF99	22731863	0.050000	0.20438	0.012000	0.15200	0.107000	0.19398	3.775000	0.55349	0.630000	0.30394	0.289000	0.19496	GGG		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		7	38	1	0	2.0095e-06	0.001984	2.50831e-06	7	38				
ZNF254	9534	broad.mit.edu	37	19	24309344	24309344	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:24309344C>T	ENST00000357002.4	+	4	657	c.542C>T	c.(541-543)tCt>tTt	p.S181F	ZNF254_ENST00000342944.6_Missense_Mutation_p.S96F	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	181					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GAAAAGAAATCTTTCAAATGT	0.284																																							uc002nru.2		NA																	0					0						c.(541-543)TCT>TTT		zinc finger protein 254							49.0	54.0	52.0					19																	24309344		2200	4287	6487	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309344C>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.542C>T	19.37:g.24309344C>T	ENSP00000349494:p.Ser181Phe					ZNF254_uc010xrk.1_Missense_Mutation_p.S96F	p.S181F	NM_203282	NP_975011	O75437	ZN254_HUMAN			4	676	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	181					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.542C>T	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	C	7.429	0.638365	0.14386	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.43294	0.95;0.95	1.12	-0.493	0.12038	.	.	.	.	.	T	0.30978	0.0782	L	0.45137	1.4	0.21020	N	0.999804	B	0.09022	0.002	B	0.08055	0.003	T	0.29150	-1.0021	9	0.72032	D	0.01	.	5.2451	0.15493	0.0:0.7573:0.0:0.2427	.	181	O75437	ZN254_HUMAN	F	96;181;181	ENSP00000445527:S96F;ENSP00000349494:S181F	ENSP00000445527:S96F	S	+	2	0	ZNF254	24101184	0.047000	0.20315	0.006000	0.13384	0.079000	0.17450	1.103000	0.31062	-0.286000	0.09076	0.313000	0.20887	TCT		0.284	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		9	71	0	0	0	0.006214	0	9	71				
ZNF507	22847	broad.mit.edu	37	19	32845809	32845809	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:32845809C>G	ENST00000311921.4	+	2	2265	c.2073C>G	c.(2071-2073)caC>caG	p.H691Q	ZNF507_ENST00000544431.1_Missense_Mutation_p.H691Q|ZNF507_ENST00000355898.5_Missense_Mutation_p.H691Q	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	691					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGATCCACCACTGTAAGACAA	0.453																																							uc002nte.2		NA																	0				ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(2071-2073)CAC>CAG		zinc finger protein 507							126.0	109.0	115.0					19																	32845809		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32845809C>G	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.2073C>G	19.37:g.32845809C>G	ENSP00000312277:p.His691Gln					ZNF507_uc002ntc.2_Missense_Mutation_p.H691Q|ZNF507_uc010xrn.1_Missense_Mutation_p.H691Q|ZNF507_uc002ntd.2_Missense_Mutation_p.H691Q	p.H691Q	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN			3	2345	+	Esophageal squamous(110;0.162)		691			C2H2-type 5.		A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.2073C>G	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106028	0.77096	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.41400	1.0;1.0;1.0	5.43	4.4	0.53042	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.68274	0.2983	M	0.87827	2.91	0.46437	D	0.999045	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.75141	-0.3422	10	0.87932	D	0	-29.2545	13.9692	0.64228	0.0:0.9271:0.0:0.0729	.	691;691	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	Q	691	ENSP00000348162:H691Q;ENSP00000312277:H691Q;ENSP00000441549:H691Q	ENSP00000312277:H691Q	H	+	3	2	ZNF507	37537649	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	3.804000	0.55568	1.288000	0.44600	0.491000	0.48974	CAC		0.453	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		6	28	0	0	0	0.001168	0	6	28				
SUPT5H	6829	broad.mit.edu	37	19	39957358	39957358	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:39957358A>G	ENST00000599117.1	+	14	1377	c.1010A>G	c.(1009-1011)cAg>cGg	p.Q337R	SUPT5H_ENST00000432763.2_Missense_Mutation_p.Q337R|SUPT5H_ENST00000359191.6_Missense_Mutation_p.Q333R|SUPT5H_ENST00000598725.1_Missense_Mutation_p.Q337R|SUPT5H_ENST00000402194.2_Missense_Mutation_p.Q333R			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	337	Interaction with RNA polymerase II.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGGCCTCCACAGAGGCTGTTT	0.577																																							uc002olo.3		NA																	0				ovary(3)|pancreas(1)	4						c.(1009-1011)CAG>CGG		suppressor of Ty 5 homolog isoform a							97.0	97.0	97.0					19																	39957358		2203	4300	6503	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39957358A>G	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1010A>G	19.37:g.39957358A>G	ENSP00000470252:p.Gln337Arg					SUPT5H_uc002olp.3_Missense_Mutation_p.Q337R|SUPT5H_uc002olq.3_Missense_Mutation_p.Q333R|SUPT5H_uc002oln.3_Missense_Mutation_p.Q337R|SUPT5H_uc002olr.3_Missense_Mutation_p.Q337R|SUPT5H_uc002ols.1_5'Flank	p.Q337R	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		13	1189	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		337			Interaction with RNA polymerase II.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.1010A>G	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300793	0.60195	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	M	0.79614	2.46	0.80722	D	1	P;P	0.47034	0.889;0.822	P;P	0.53649	0.731;0.542	T	0.75955	-0.3135	8	.	.	.	-24.692	15.433	0.75116	1.0:0.0:0.0:0.0	.	333;337	O00267-2;O00267	.;SPT5H_HUMAN	R	337;333;315;337	.	.	Q	+	2	0	SUPT5H	44649198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.080000	0.94040	2.288000	0.76882	0.533000	0.62120	CAG		0.577	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		16	65	0	0	0	0.004007	0	16	65				
SIGLEC11	114132	broad.mit.edu	37	19	50453257	50453257	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:50453257C>T	ENST00000447370.2	-	11	2157	c.2067G>A	c.(2065-2067)gaG>gaA	p.E689E	CTC-326K19.6_ENST00000451973.1_Intron|U3_ENST00000408198.1_RNA|SIGLEC11_ENST00000426971.2_Silent_p.E593E	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	689					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		ACATCTCCCTCTCCAATTGAA	0.597																																							uc010ybh.1		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(2065-2067)GAG>GAA		sialic acid binding Ig-like lectin 11 isoform 1							32.0	29.0	30.0					19																	50453257		2202	4300	6502	SO:0001819	synonymous_variant	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50453257C>T	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.2067G>A	19.37:g.50453257C>T						SIGLEC11_uc010ybi.1_Silent_p.E593E	p.E689E	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	11	2158	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	689			Cytoplasmic (Potential).			Silent	SNP	ENST00000447370.2	37	c.2067G>A	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	C	1.481	-0.557150	0.03967	.	.	ENSG00000161640	ENST00000426971	.	.	.	2.43	-0.203	0.13204	.	.	.	.	.	T	0.21674	0.0522	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25047	-1.0143	4	.	.	.	.	2.9582	0.05883	0.0:0.512:0.2986:0.1894	.	.	.	.	K	583	.	.	R	-	2	0	SIGLEC11	55145069	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.993000	0.03720	0.304000	0.22809	0.655000	0.94253	AGA		0.597	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		6	17	0	0	0	0.001168	0	6	17				
ZNF677	342926	broad.mit.edu	37	19	53741564	53741564	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:53741564G>C	ENST00000598513.1	-	5	566	c.416C>G	c.(415-417)tCc>tGc	p.S139C	CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000333952.4_Missense_Mutation_p.S139C	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ATGTATTGAGGATTTATTATG	0.333																																							uc002qbf.1		NA																	0				ovary(1)	1						c.(415-417)TCC>TGC		zinc finger protein 677							144.0	140.0	141.0					19																	53741564		2202	4299	6501	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53741564G>C	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.416C>G	19.37:g.53741564G>C	ENSP00000469391:p.Ser139Cys					ZNF677_uc002qbg.1_Missense_Mutation_p.S139C	p.S139C	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	601	-			139						Missense_Mutation	SNP	ENST00000598513.1	37	c.416C>G	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	G	5.931	0.355865	0.11239	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.08807	3.05	2.29	1.24	0.21308	.	0.479943	0.15729	N	0.247505	T	0.04227	0.0117	N	0.24115	0.695	0.22571	N	0.998975	B	0.29378	0.243	B	0.20955	0.032	T	0.37798	-0.9690	10	0.34782	T	0.22	.	2.9209	0.05768	0.1569:0.0:0.5728:0.2703	.	139	Q86XU0	ZN677_HUMAN	C	139	ENSP00000334394:S139C	ENSP00000334394:S139C	S	-	2	0	ZNF677	58433376	0.001000	0.12720	0.054000	0.19295	0.107000	0.19398	0.204000	0.17335	0.523000	0.28482	0.655000	0.94253	TCC		0.333	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		12	32	0	0	0	0.000978	0	12	32				
LILRB3	11025	broad.mit.edu	37	19	54726852	54726852	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs371692762		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:54726852G>A	ENST00000391750.1	-	0	133				LILRB3_ENST00000245620.9_5'Flank|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000346401.6_De_novo_Start_OutOfFrame|LILRB3_ENST00000469273.1_5'Flank|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|CTB-83J4.1_ENST00000601161.1_lincRNA|LILRB3_ENST00000424807.1_De_novo_Start_OutOfFrame			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCGTCATGGCGTCTCCTCCCG	0.642																																							uc002qef.1		NA																	0				skin(2)|ovary(1)	3						c.(-5--1)GACGC>GATGC		leukocyte immunoglobulin-like receptor,		G	,	1,4325		0,1,2162	47.0	59.0	55.0		,	-4.5	0.0	19		55	0,8510		0,0,4255	no	utr-5,utr-5	LILRB3	NM_001081450.1,NM_006864.2	,	0,1,6417	AA,AG,GG		0.0,0.0231,0.0078	,	,	54726852	1,12835	2163	4255	6418			11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54726852G>A	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.-4C>T	19.37:g.54726852G>A						LILRB3_uc002qee.1_Translation_Start_Site|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron		NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	1	108	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)							C9J1P3|C9JIP1|O15471|Q86U49	Translation_Start_Site	SNP	ENST00000391750.1	37	c.-3C>T	CCDS33105.1																																																																																				0.642	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		6	56	0	0	0	0.001168	0	6	56				
LILRB5	10990	broad.mit.edu	37	19	54758820	54758820	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:54758820G>A	ENST00000316219.5	-	6	1140	c.1033C>T	c.(1033-1035)Cag>Tag	p.Q345*	LILRB5_ENST00000345866.6_Nonsense_Mutation_p.Q245*|LILRB5_ENST00000449561.2_Nonsense_Mutation_p.Q345*|LILRB5_ENST00000450632.1_Nonsense_Mutation_p.Q336*	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	345	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGCCATGACTGACACAGCAGG	0.567																																							uc002qex.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1033-1035)CAG>TAG		leukocyte immunoglobulin-like receptor,							46.0	46.0	46.0					19																	54758820		2203	4300	6503	SO:0001587	stop_gained	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54758820G>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1033C>T	19.37:g.54758820G>A	ENSP00000320390:p.Gln345*					LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Nonsense_Mutation_p.Q336*|LILRB5_uc002qey.2_Nonsense_Mutation_p.Q345*|LILRB5_uc002qez.2_Nonsense_Mutation_p.Q245*|LILRB5_uc002qfa.1_Nonsense_Mutation_p.Q235*|LILRB5_uc010yes.1_RNA	p.Q345*	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1144	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		345			Ig-like C2-type 4.|Extracellular (Potential).		Q8N760	Nonsense_Mutation	SNP	ENST00000316219.5	37	c.1033C>T	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131957	0.56828	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	.	.	.	3.08	-1.28	0.09318	.	1.979650	0.02524	N	0.092902	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	2.9588	0.05886	0.3845:0.2324:0.383:0.0	.	.	.	.	X	345;336;345;245	.	ENSP00000320390:Q345X	Q	-	1	0	LILRB5	59450632	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-1.174000	0.03105	-0.153000	0.11137	0.573000	0.79308	CAG		0.567	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			4	41	0	0	0	0.000248	0	4	41				
PPP1R12C	54776	broad.mit.edu	37	19	55607673	55607673	+	Missense_Mutation	SNP	G	G	A	rs202008761		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:55607673G>A	ENST00000263433.3	-	7	997	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R328W|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R254W	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TCCTGGCCCCGGCTCTGGGAA	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14338	0.0		0.0	False		,,,				2504	0.0						uc002qix.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(982-984)CGG>TGG		protein phosphatase 1, regulatory subunit 12C							81.0	94.0	90.0					19																	55607673		2203	4300	6503	SO:0001583	missense	54776					cytoplasm		g.chr19:55607673G>A	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.982C>T	19.37:g.55607673G>A	ENSP00000263433:p.Arg328Trp					PPP1R12C_uc010yfs.1_Missense_Mutation_p.R254W|PPP1R12C_uc002qiy.2_Missense_Mutation_p.R328W	p.R328W	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	7	998	-			328			Potential.			Missense_Mutation	SNP	ENST00000263433.3	37	c.982C>T	CCDS12916.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	g	12.45	1.941675	0.34283	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.69926	-0.28;-0.3;-0.44	4.58	-9.16	0.00694	.	2.756230	0.01531	N	0.018784	T	0.68007	0.2954	L	0.44542	1.39	0.09310	N	1	B;B;D	0.61697	0.002;0.003;0.99	B;B;P	0.52881	0.0;0.003;0.712	T	0.71646	-0.4530	10	0.66056	D	0.02	.	15.5671	0.76303	0.095:0.0:0.7685:0.1365	.	254;328;328	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	W	328;328;254	ENSP00000263433:R328W;ENSP00000365573:R328W;ENSP00000387833:R254W	ENSP00000263433:R328W	R	-	1	2	PPP1R12C	60299485	0.001000	0.12720	0.005000	0.12908	0.052000	0.14988	-0.228000	0.09114	-1.545000	0.01719	-1.094000	0.02160	CGG		0.647	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		25	95	0	0	0	0.005443	0	25	95				
PXDN	7837	broad.mit.edu	37	2	1642712	1642712	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:1642712G>A	ENST00000252804.4	-	21	4162	c.4112C>T	c.(4111-4113)tCa>tTa	p.S1371L		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1371					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCTGAAGGCTGAGGTGCTGTT	0.527																																							uc002qxa.2		NA																	0				pancreas(6)|ovary(2)	8						c.(4111-4113)TCA>TTA		peroxidasin precursor							122.0	126.0	125.0					2																	1642712		2139	4254	6393	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1642712G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.4112C>T	2.37:g.1642712G>A	ENSP00000252804:p.Ser1371Leu						p.S1371L	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	21	4176	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1371					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.4112C>T	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	9.134	1.012139	0.19277	.	.	ENSG00000130508	ENST00000252804	T	0.60797	0.16	5.43	2.45	0.29901	.	0.518092	0.19926	N	0.102974	T	0.38719	0.1051	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14924	-1.0455	10	0.26408	T	0.33	-10.849	5.7465	0.18122	0.0751:0.1371:0.6457:0.142	.	1371	Q92626	PXDN_HUMAN	L	1371	ENSP00000252804:S1371L	ENSP00000252804:S1371L	S	-	2	0	PXDN	1621719	0.004000	0.15560	0.001000	0.08648	0.003000	0.03518	1.488000	0.35551	0.767000	0.33267	-0.244000	0.11960	TCA		0.527	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		5	68	0	0	0	0.000602	0	5	68				
RNASEH1	246243	broad.mit.edu	37	2	3596650	3596650	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:3596650G>T	ENST00000315212.3	-	5	917	c.562C>A	c.(562-564)Cat>Aat	p.H188N	RP13-512J5.1_ENST00000438485.1_5'Flank	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	188	RNase H. {ECO:0000255|PROSITE- ProRule:PRU00408}.				mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		TAACTTACATGAATTTCCGCT	0.308																																							uc002qxt.2		NA																	0				ovary(1)	1						c.(562-564)CAT>AAT		ribonuclease H1							192.0	210.0	204.0					2																	3596650		2203	4300	6503	SO:0001583	missense	246243				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding	g.chr2:3596650G>T	AF039652	CCDS1647.1	2p25	2008-03-11			ENSG00000171865	ENSG00000171865	3.1.26.-		18466	protein-coding gene	gene with protein product	"""RNase H1"""	604123				12036296, 17964265	Standard	XR_244873		Approved		uc002qxt.3	O60930	OTTHUMG00000090279	ENST00000315212.3:c.562C>A	2.37:g.3596650G>T	ENSP00000313350:p.His188Asn					RNASEH1_uc002qxs.2_Missense_Mutation_p.H71N	p.H188N	NM_002936	NP_002927	O60930	RNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)	5	652	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		188			RNase H.		B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000315212.3	37	c.562C>A	CCDS1647.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971123	0.74246	.	.	ENSG00000171865	ENST00000315212	T	0.43294	0.95	4.68	4.68	0.58851	Ribonuclease H domain (2);Ribonuclease H-like (1);	0.244949	0.43579	D	0.000546	T	0.46171	0.1379	N	0.21097	0.63	0.46725	D	0.999174	D	0.54207	0.965	D	0.64595	0.927	T	0.16689	-1.0394	10	0.15952	T	0.53	-14.1027	15.4812	0.75528	0.0:0.0:1.0:0.0	.	188	O60930	RNH1_HUMAN	N	188	ENSP00000313350:H188N	ENSP00000313350:H188N	H	-	1	0	RNASEH1	3574525	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.370000	0.66144	2.581000	0.87130	0.655000	0.94253	CAT		0.308	RNASEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206605.2			5	195	1	0	0.000602214	0.000602	0.000695015	5	195				
APOB	338	broad.mit.edu	37	2	21224710	21224710	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:21224710G>A	ENST00000233242.1	-	29	13711	c.13584C>T	c.(13582-13584)taC>taT	p.Y4528Y	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4528					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAATGTGTGGTAGTTTTGAA	0.363																																							uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(13582-13584)TAC>TAT		apolipoprotein B precursor	Atorvastatin(DB01076)						145.0	147.0	146.0					2																	21224710		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21224710G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.13584C>T	2.37:g.21224710G>A							p.Y4528Y	NM_000384	NP_000375	P04114	APOB_HUMAN			29	13712	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4528					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.13584C>T	CCDS1703.1																																																																																				0.363	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			23	75	0	0	0	0.001882	0	23	75				
APOB	338	broad.mit.edu	37	2	21231013	21231013	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:21231013C>G	ENST00000233242.1	-	26	8854	c.8727G>C	c.(8725-8727)gaG>gaC	p.E2909D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2909					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGTCTTGATCTCGTTGCGCA	0.468																																							uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(8725-8727)GAG>GAC		apolipoprotein B precursor	Atorvastatin(DB01076)						178.0	171.0	173.0					2																	21231013		2203	4299	6502	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231013C>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8727G>C	2.37:g.21231013C>G	ENSP00000233242:p.Glu2909Asp						p.E2909D	NM_000384	NP_000375	P04114	APOB_HUMAN			26	8855	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2909					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8727G>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	0.039	-1.293840	0.01375	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00711	5.8	5.74	-5.76	0.02376	.	0.626528	0.15147	N	0.277941	T	0.00524	0.0017	L	0.39020	1.185	0.34028	D	0.653464	B	0.15141	0.012	B	0.12156	0.007	T	0.47849	-0.9085	10	0.22109	T	0.4	.	0.2341	0.00184	0.2544:0.2086:0.2597:0.2772	.	2909	P04114	APOB_HUMAN	D	2909	ENSP00000233242:E2909D	ENSP00000233242:E2909D	E	-	3	2	APOB	21084518	0.000000	0.05858	0.272000	0.24630	0.042000	0.13812	-3.040000	0.00633	-0.877000	0.04012	-0.367000	0.07326	GAG		0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			14	146	0	0	0	0.003163	0	14	146				
CDKL4	344387	broad.mit.edu	37	2	39414782	39414782	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:39414782C>G	ENST00000395035.3	-	6	720	c.721G>C	c.(721-723)Gag>Cag	p.E241Q	CDKL4_ENST00000378803.1_Missense_Mutation_p.E241Q			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TCTTCTGGCTCAGGTATACTG	0.313																																							uc002rrm.2		NA																	0				ovary(1)	1						c.(721-723)GAG>CAG		cyclin-dependent kinase-like 4							93.0	100.0	97.0					2																	39414782		2203	4300	6503	SO:0001583	missense	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39414782C>G		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.721G>C	2.37:g.39414782C>G	ENSP00000378476:p.Glu241Gln					CDKL4_uc010fal.1_Missense_Mutation_p.E241Q	p.E241Q	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN			6	721	-		all_hematologic(82;0.248)	241			Protein kinase.		Q2NME9	Missense_Mutation	SNP	ENST00000395035.3	37	c.721G>C		.	.	.	.	.	.	.	.	.	.	C	14.33	2.503310	0.44558	.	.	ENSG00000205111	ENST00000451199;ENST00000378803;ENST00000395035	T;T;T	0.42513	2.79;0.97;0.97	5.15	5.15	0.70609	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	0.56097	D	0.000033	T	0.24044	0.0582	N	0.04373	-0.215	0.48511	D	0.999666	B;B	0.28082	0.2;0.007	B;B	0.26310	0.068;0.027	T	0.09796	-1.0658	10	0.35671	T	0.21	-32.3531	16.1422	0.81534	0.0:1.0:0.0:0.0	.	241;241	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	Q	23;241;241	ENSP00000389833:E23Q;ENSP00000368080:E241Q;ENSP00000378476:E241Q	ENSP00000368080:E241Q	E	-	1	0	CDKL4	39268286	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.324000	0.72896	2.415000	0.81967	0.555000	0.69702	GAG		0.313	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029		4	33	0	0	0	0.000248	0	4	33				
CDKL4	344387	broad.mit.edu	37	2	39431698	39431698	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:39431698T>A	ENST00000395035.3	-	4	423	c.424A>T	c.(424-426)Att>Ttt	p.I142F	CDKL4_ENST00000378803.1_Missense_Mutation_p.I142F			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	142	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				AAGTCACAAATCTTGATTATT	0.279																																							uc002rrm.2		NA																	0				ovary(1)	1						c.(424-426)ATT>TTT		cyclin-dependent kinase-like 4							83.0	79.0	81.0					2																	39431698		2201	4293	6494	SO:0001583	missense	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39431698T>A		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.424A>T	2.37:g.39431698T>A	ENSP00000378476:p.Ile142Phe					CDKL4_uc010fal.1_Missense_Mutation_p.I142F	p.I142F	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN			4	424	-		all_hematologic(82;0.248)	142			Protein kinase.		Q2NME9	Missense_Mutation	SNP	ENST00000395035.3	37	c.424A>T		.	.	.	.	.	.	.	.	.	.	T	20.6	4.015669	0.75161	.	.	ENSG00000205111	ENST00000378803;ENST00000395035	T;T	0.56275	0.47;0.47	5.79	4.61	0.57282	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.216065	0.32372	N	0.006197	T	0.65186	0.2667	M	0.70903	2.155	0.43292	D	0.995272	P;P	0.47191	0.891;0.738	P;B	0.57960	0.83;0.405	T	0.66701	-0.5857	10	0.87932	D	0	-19.5687	9.1011	0.36669	0.1628:0.0:0.0:0.8372	.	142;142	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	F	142	ENSP00000368080:I142F;ENSP00000378476:I142F	ENSP00000368080:I142F	I	-	1	0	CDKL4	39285202	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.805000	0.55575	0.975000	0.38392	0.528000	0.53228	ATT		0.279	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029		3	29	0	0	0	0.000248	0	3	29				
SIX2	10736	broad.mit.edu	37	2	45235795	45235795	+	Missense_Mutation	SNP	C	C	A	rs369994485		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:45235795C>A	ENST00000303077.6	-	1	774	c.455G>T	c.(454-456)cGc>cTc	p.R152L		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	152					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACGCTTCTCGCGGGGTGAAGG	0.667																																							uc002ruo.2		NA																	0				pancreas(1)	1						c.(454-456)CGC>CTC		SIX homeobox 2							56.0	61.0	59.0					2																	45235795		2203	4300	6503	SO:0001583	missense	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45235795C>A	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"""Homeoboxes / SINE class"""	10888	protein-coding gene	gene with protein product		604994	"""sine oculis homeobox (Drosophila) homolog 2"", ""sine oculis homeobox homolog 2 (Drosophila)"""				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.455G>T	2.37:g.45235795C>A	ENSP00000304502:p.Arg152Leu					SIX2_uc002rup.2_Missense_Mutation_p.R152L	p.R152L	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN			1	748	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	152			Homeobox.		Q9BXH7	Missense_Mutation	SNP	ENST00000303077.6	37	c.455G>T	CCDS1822.1	.	.	.	.	.	.	.	.	.	.	C	34	5.314479	0.95655	.	.	ENSG00000170577	ENST00000303077	D	0.96168	-3.93	5.19	5.19	0.71726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94098	0.8108	N	0.21508	0.67	0.80722	D	1	P;P	0.48350	0.791;0.909	P;P	0.52627	0.527;0.704	D	0.93591	0.6921	10	0.33940	T	0.23	-29.1065	18.3301	0.90265	0.0:1.0:0.0:0.0	.	152;152	Q8TBA2;Q9NPC8	.;SIX2_HUMAN	L	152	ENSP00000304502:R152L	ENSP00000304502:R152L	R	-	2	0	SIX2	45089299	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	6.034000	0.70933	2.413000	0.81919	0.462000	0.41574	CGC		0.667	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			18	82	1	0	9.16793e-09	0.00499	1.19523e-08	18	82				
CCDC88A	55704	broad.mit.edu	37	2	55562132	55562132	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:55562132C>G	ENST00000436346.1	-	15	2666	c.1825G>C	c.(1825-1827)Gaa>Caa	p.E609Q	AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E609Q|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E609Q|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E609Q	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	609					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGTCTTTTTTCAAATTCAATC	0.289																																							uc002ryv.2		NA																	0				ovary(2)|skin(2)	4						c.(1825-1827)GAA>CAA		coiled-coil domain containing 88A isoform 1							33.0	32.0	32.0					2																	55562132		2201	4295	6496	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55562132C>G	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1825G>C	2.37:g.55562132C>G	ENSP00000410608:p.Glu609Gln					CCDC88A_uc010yoz.1_Missense_Mutation_p.E609Q|CCDC88A_uc010ypa.1_Missense_Mutation_p.E609Q|CCDC88A_uc010ypb.1_Missense_Mutation_p.E511Q|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.2_5'UTR	p.E609Q	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			15	2667	-			609			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.1825G>C		.	.	.	.	.	.	.	.	.	.	C	18.02	3.529824	0.64860	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.18	5.18	0.71444	.	0.000000	0.49305	U	0.000146	T	0.56292	0.1975	M	0.69823	2.125	0.80722	D	1	D;D;D	0.71674	0.974;0.998;0.957	P;D;P	0.80764	0.829;0.994;0.799	T	0.55522	-0.8128	10	0.42905	T	0.14	-18.2353	18.6882	0.91573	0.0:1.0:0.0:0.0	.	609;609;609	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	Q	609	ENSP00000338728:E609Q;ENSP00000263630:E609Q;ENSP00000410608:E609Q;ENSP00000404431:E609Q	ENSP00000263630:E609Q	E	-	1	0	CCDC88A	55415636	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.400000	0.81607	0.561000	0.74099	GAA		0.289	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		2	16	0	0	0	0.004672	0	2	16				
ALMS1	7840	broad.mit.edu	37	2	73675658	73675658	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:73675658C>T	ENST00000264448.6	+	8	2112	c.2001C>T	c.(1999-2001)tcC>tcT	p.S667S	ALMS1_ENST00000377715.1_Silent_p.S667S|ALMS1_ENST00000409009.1_Silent_p.S625S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	667	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCTCTACATCCCACTCACATG	0.493																																							uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(2005-2007)TCC>TCT		Alstrom syndrome 1							85.0	85.0	85.0					2																	73675658		1926	4127	6053	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73675658C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.2001C>T	2.37:g.73675658C>T						ALMS1_uc002sjf.1_Silent_p.S625S|ALMS1_uc002sjg.2_Silent_p.S55S|ALMS1_uc002sjh.1_Silent_p.S55S	p.S669S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	2118	+			667			3.|34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.2007C>T	CCDS42697.1																																																																																				0.493	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		4	105	0	0	0	0.000248	0	4	105				
THNSL2	55258	broad.mit.edu	37	2	88484874	88484874	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:88484874G>T	ENST00000324166.5	+	7	2796	c.1105G>T	c.(1105-1107)Gtg>Ttg	p.V369L	THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.V369L|THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000377254.3_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	369					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						ATCCGTGTCAGTGTCGGATGA	0.572																																							uc002ssz.3		NA																	0				ovary(1)	1						c.(1105-1107)GTG>TTG		threonine synthase-like 2							41.0	46.0	44.0					2																	88484874		2176	4287	6463	SO:0001583	missense	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88484874G>T		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.1105G>T	2.37:g.88484874G>T	ENSP00000327323:p.Val369Leu					THNSL2_uc002ssv.2_Intron|THNSL2_uc002ssw.3_Intron|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Missense_Mutation_p.V369L|THNSL2_uc010fhe.2_Intron	p.V369L	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN			8	1258	+			369					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	37	c.1105G>T	CCDS2002.2	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914184	0.33815	.	.	ENSG00000144115	ENST00000358591;ENST00000324166	D;D	0.98345	-4.88;-4.88	5.81	4.93	0.64822	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.195295	0.42420	D	0.000705	D	0.96898	0.8987	L	0.56769	1.78	0.80722	D	1	B	0.28258	0.205	B	0.31547	0.132	D	0.95842	0.8867	10	0.52906	T	0.07	.	14.1303	0.65250	0.0718:0.0:0.9282:0.0	.	369	Q86YJ6	THNS2_HUMAN	L	369	ENSP00000351402:V369L;ENSP00000327323:V369L	ENSP00000327323:V369L	V	+	1	0	THNSL2	88265989	1.000000	0.71417	0.092000	0.20876	0.012000	0.07955	4.601000	0.61090	1.460000	0.47911	0.655000	0.94253	GTG		0.572	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		11	40	1	0	1.61879e-10	0.001368	2.20006e-10	11	40				
MRPS5	64969	broad.mit.edu	37	2	95766250	95766250	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:95766250C>A	ENST00000272418.2	-	10	1108	c.900G>T	c.(898-900)agG>agT	p.R300S		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	300					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TGATATGCGTCCTTTTAAATC	0.333																																							uc002sub.2		NA																	0		p.R300K(1)		ovary(2)|central_nervous_system(1)	3						c.(898-900)AGG>AGT		mitochondrial ribosomal protein S5							151.0	158.0	155.0					2																	95766250		2203	4300	6503	SO:0001583	missense	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95766250C>A	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.900G>T	2.37:g.95766250C>A	ENSP00000272418:p.Arg300Ser					MRPS5_uc002suc.2_RNA	p.R300S	NM_031902	NP_114108	P82675	RT05_HUMAN			10	1118	-			300					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	c.900G>T	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529850	0.27387	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.89	2.71	0.32032	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5, C-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.134947	0.64402	D	0.000005	T	0.45034	0.1322	L	0.39245	1.2	0.51233	D	0.999913	B	0.16603	0.018	B	0.26416	0.069	T	0.20306	-1.0279	9	0.14252	T	0.57	-28.5822	10.3326	0.43831	0.0:0.7456:0.0:0.2544	.	300	P82675	RT05_HUMAN	S	300	.	ENSP00000272418:R300S	R	-	3	2	MRPS5	95129977	0.959000	0.32827	1.000000	0.80357	0.907000	0.53573	0.049000	0.14099	0.840000	0.34995	0.591000	0.81541	AGG		0.333	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		15	44	1	0	7.93312e-07	0.00245	1.00088e-06	15	44				
GALNT5	11227	broad.mit.edu	37	2	158115947	158115947	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:158115947G>T	ENST00000259056.4	+	1	1838	c.1353G>T	c.(1351-1353)aaG>aaT	p.K451N		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	451					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CCCATGGAAAGGAGAAGGAGG	0.498																																							uc002tzg.2		NA																	0				breast(3)|skin(1)	4						c.(1351-1353)AAG>AAT		N-acetylgalactosaminyltransferase 5							85.0	80.0	82.0					2																	158115947		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158115947G>T	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1353G>T	2.37:g.158115947G>T	ENSP00000259056:p.Lys451Asn					GALNT5_uc010zci.1_RNA	p.K451N	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			1	1608	+			451			Lumenal (Potential).		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.1353G>T	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846548	0.51164	.	.	ENSG00000136542	ENST00000259056	T	0.59224	0.28	5.96	4.18	0.49190	.	0.104731	0.64402	N	0.000004	T	0.46367	0.1389	L	0.49126	1.545	0.45015	D	0.998036	P	0.36438	0.553	B	0.29267	0.1	T	0.44498	-0.9324	10	0.54805	T	0.06	.	9.2966	0.37819	0.2728:0.0:0.7272:0.0	.	451	Q7Z7M9	GALT5_HUMAN	N	451	ENSP00000259056:K451N	ENSP00000259056:K451N	K	+	3	2	GALNT5	157824193	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	0.617000	0.24359	0.871000	0.35750	0.585000	0.79938	AAG		0.498	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		7	72	1	0	1.06961e-07	0.00308	1.3741e-07	7	72				
SCN3A	6328	broad.mit.edu	37	2	165997469	165997469	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:165997469G>A	ENST00000360093.3	-	13	2202	c.1711C>T	c.(1711-1713)Cgc>Tgc	p.R571C	SCN3A_ENST00000283254.7_Missense_Mutation_p.R571C|SCN3A_ENST00000409101.3_Missense_Mutation_p.R571C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	571					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTGCTATTGCGTCTTGGGGAA	0.443																																							uc002ucx.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(1711-1713)CGC>TGC		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						57.0	54.0	55.0					2																	165997469		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165997469G>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1711C>T	2.37:g.165997469G>A	ENSP00000353206:p.Arg571Cys					SCN3A_uc002ucy.2_Missense_Mutation_p.R571C|SCN3A_uc002ucz.2_Missense_Mutation_p.R571C|SCN3A_uc002uda.1_Missense_Mutation_p.R440C|SCN3A_uc002udb.1_Missense_Mutation_p.R440C	p.R571C	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			13	2203	-			571					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.1711C>T		.	.	.	.	.	.	.	.	.	.	G	17.23	3.337309	0.60963	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43	6.07	6.07	0.98685	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000007	D	0.98871	0.9618	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;P;P;D	0.81914	0.995;0.91;0.897;0.897;0.969	D	0.99150	1.0858	10	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	571;571;571;571;571	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	C	571	ENSP00000353206:R571C;ENSP00000283254:R571C;ENSP00000386726:R571C;ENSP00000403348:R571C	ENSP00000283254:R571C	R	-	1	0	SCN3A	165705715	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.853000	0.62911	2.885000	0.99019	0.655000	0.94253	CGC		0.443	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		6	45	0	0	0	0.001168	0	6	45				
SCN9A	6335	broad.mit.edu	37	2	167085246	167085246	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:167085246C>T	ENST00000409435.1	-	21	4160	c.4161G>A	c.(4159-4161)gtG>gtA	p.V1387V	SCN9A_ENST00000303354.6_Silent_p.V1388V|SCN9A_ENST00000409672.1_Silent_p.V1376V|SCN9A_ENST00000375387.4_Silent_p.V1388V|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1387					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TATCAAAGTTCACTTTCAGGT	0.398																																							uc010fpl.2		NA																	0				ovary(6)|central_nervous_system(5)|skin(2)	13						c.(4126-4128)GTG>GTA		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						196.0	193.0	194.0					2																	167085246		1880	4130	6010	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167085246C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4161G>A	2.37:g.167085246C>T						uc002udp.2_Intron	p.V1376V	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			22	4469	-			1387			III.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.4128G>A	CCDS46441.1																																																																																				0.398	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		5	127	0	0	0	0.001168	0	5	127				
XIRP2	129446	broad.mit.edu	37	2	167760139	167760139	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:167760139G>A	ENST00000409728.1	+	2	236	c.147G>A	c.(145-147)gaG>gaA	p.E49E	XIRP2_ENST00000295237.9_Silent_p.E49E|XIRP2_ENST00000420519.1_Silent_p.E49E|XIRP2_ENST00000409043.1_Silent_p.E49E|XIRP2_ENST00000409195.1_Silent_p.E49E|XIRP2_ENST00000409756.2_Silent_p.E49E	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGAAGGAGAGGTAGTATCAG	0.488																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(145-147)GAG>GAA		xin actin-binding repeat containing 2 isoform 1							74.0	73.0	73.0					2																	167760139		1942	4137	6079	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167760139G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.147G>A	2.37:g.167760139G>A						XIRP2_uc010fpn.2_Silent_p.E49E|XIRP2_uc010fpo.2_Silent_p.E49E|XIRP2_uc010fpp.2_Silent_p.E49E	p.E49E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			1	165	+			Error:Variant_position_missing_in_A4UGR9_after_alignment					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409728.1	37	c.147G>A	CCDS56143.1																																																																																				0.488	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		6	41	0	0	0	0.001984	0	6	41				
DHRS9	10170	broad.mit.edu	37	2	169938262	169938262	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:169938262C>T	ENST00000327239.4	+	5	1675	c.171C>T	c.(169-171)atC>atT	p.I57I	DHRS9_ENST00000357546.2_Silent_p.I57I|DHRS9_ENST00000412271.1_Silent_p.I57I|DHRS9_ENST00000428522.1_Silent_p.I57I|DHRS9_ENST00000436483.2_Silent_p.I57I|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000602501.1_Silent_p.I57I|DHRS9_ENST00000432060.2_Silent_p.I117I	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	57					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TTCATGTAATCGCTGCCTGTC	0.433																																							uc002uep.2		NA																	0					0						c.(169-171)ATC>ATT		NADP-dependent retinol dehydrogenase/reductase							90.0	91.0	90.0					2																	169938262		2203	4300	6503	SO:0001819	synonymous_variant	10170				9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	g.chr2:169938262C>T	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.171C>T	2.37:g.169938262C>T						DHRS9_uc002ueq.2_Silent_p.I57I|DHRS9_uc010zdc.1_Silent_p.I117I|DHRS9_uc002uer.1_Silent_p.I57I|DHRS9_uc010zdd.1_Silent_p.I57I|DHRS9_uc010zde.1_Silent_p.I57I	p.I57I	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN			5	1675	+			57			NAD (By similarity).		B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Silent	SNP	ENST00000327239.4	37	c.171C>T	CCDS2231.1																																																																																				0.433	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		20	39	0	0	0	0.008871	0	20	39				
TTN	7273	broad.mit.edu	37	2	179406266	179406266	+	Missense_Mutation	SNP	C	C	T	rs201080904		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:179406266C>T	ENST00000591111.1	-	300	92839	c.92615G>A	c.(92614-92616)cGt>cAt	p.R30872H	TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23640H|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R32513H|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23573H|TTN_ENST00000460472.2_Missense_Mutation_p.R23448H|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R29945H|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30872	Fibronectin type-III 125. {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)			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)			CATGCCATCACGGGAAACATC	0.458																																							uc010zfg.1		NA																	0				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.(89833-89835)CGT>CAT		titin isoform N2-A		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,3868		0,0,1934	91.0	84.0	86.0		70919,70718,89834,70343	5.6	1.0	2		86	3,8253		0,3,4125	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	0,3,6059	TT,TC,CC		0.0363,0.0,0.0247	benign,benign,benign,benign	23640/27119,23573/27052,29945/33424,23448/26927	179406266	3,12121	1934	4128	6062	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179406266C>T	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.92615G>A	2.37:g.179406266C>T	ENSP00000465570:p.Arg30872His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R23640H|TTN_uc010zfi.1_Missense_Mutation_p.R23573H|TTN_uc010zfj.1_Missense_Mutation_p.R23448H	p.R29945H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		299	90058	-			30872					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.89834G>A		.	.	.	.	.	.	.	.	.	.	C	25.1	4.605334	0.87157	0.0	3.63E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.56	5.56	0.83823	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47655	0.1457	L	0.35341	1.055	0.54753	D	0.999988	B;B;B;B	0.23058	0.079;0.079;0.079;0.079	B;B;B;B	0.22601	0.04;0.04;0.04;0.04	T	0.44034	-0.9354	9	0.87932	D	0	.	19.5319	0.95232	0.0:1.0:0.0:0.0	.	23448;23573;23640;30872	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	29945;23448;23640;23573;23445	ENSP00000343764:R29945H;ENSP00000434586:R23448H;ENSP00000340554:R23640H;ENSP00000352154:R23573H	ENSP00000340554:R23640H	R	-	2	0	TTN	179114512	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.892000	0.56235	2.616000	0.88540	0.561000	0.74099	CGT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	16	0	0	0	0.001168	0	6	16				
TTN	7273	broad.mit.edu	37	2	179427449	179427449	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:179427449C>T	ENST00000591111.1	-	276	78711	c.78487G>A	c.(78487-78489)Gaa>Aaa	p.E26163K	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18931K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E27804K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18864K|TTN_ENST00000460472.2_Missense_Mutation_p.E18739K|TTN_ENST00000342992.6_Missense_Mutation_p.E25236K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26163	Fibronectin type-III 90. {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)			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)			TCTCGTTTTTCGACAATGTAG	0.358																																							uc010zfg.1		NA																	0				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.(75706-75708)GAA>AAA		titin isoform N2-A							116.0	108.0	110.0					2																	179427449		1865	4098	5963	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179427449C>T	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.78487G>A	2.37:g.179427449C>T	ENSP00000465570:p.Glu26163Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E18931K|TTN_uc010zfi.1_Missense_Mutation_p.E18864K|TTN_uc010zfj.1_Missense_Mutation_p.E18739K	p.E25236K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	75930	-			26163					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.75706G>A		.	.	.	.	.	.	.	.	.	.	C	16.42	3.119398	0.56505	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.85	5.85	0.93711	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79028	0.4377	M	0.88310	2.945	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.998;0.999	T	0.81885	-0.0727	9	0.87932	D	0	.	20.1775	0.98187	0.0:1.0:0.0:0.0	.	18739;18864;18931;26163	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	25236;18739;18931;18864;18737	ENSP00000343764:E25236K;ENSP00000434586:E18739K;ENSP00000340554:E18931K;ENSP00000352154:E18864K	ENSP00000340554:E18931K	E	-	1	0	TTN	179135695	1.000000	0.71417	0.979000	0.43373	0.981000	0.71138	7.818000	0.86416	2.771000	0.95319	0.561000	0.74099	GAA		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	35	0	0	0	0.001855	0	14	35				
ITGA4	3676	broad.mit.edu	37	2	182347286	182347286	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:182347286G>T	ENST00000397033.2	+	9	1379	c.949G>T	c.(949-951)Gca>Tca	p.A317S		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	317					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GGACCTCAATGCAGATGGCTT	0.498																																							uc002unu.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(949-951)GCA>TCA		integrin alpha 4 precursor	Natalizumab(DB00108)						222.0	222.0	222.0					2																	182347286		2020	4175	6195	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182347286G>T		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.949G>T	2.37:g.182347286G>T	ENSP00000380227:p.Ala317Ser					ITGA4_uc010zfl.1_Missense_Mutation_p.A317S	p.A317S	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		9	1712	+			317			Potential.|FG-GAP 5.|Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.949G>T	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133649	0.37630	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.71222	-0.55;-0.55	5.81	5.81	0.92471	.	0.167957	0.51477	D	0.000088	T	0.59582	0.2204	N	0.08118	0	0.41592	D	0.988809	B;D	0.54772	0.08;0.968	B;P	0.51582	0.129;0.674	T	0.58047	-0.7705	10	0.14252	T	0.57	.	15.7341	0.77827	0.0:0.0:0.8552:0.1448	.	317;317	E7EP60;P13612	.;ITA4_HUMAN	S	317	ENSP00000380227:A317S;ENSP00000233573:A317S	ENSP00000233573:A317S	A	+	1	0	ITGA4	182055531	0.995000	0.38212	0.995000	0.50966	0.886000	0.51366	2.190000	0.42630	2.734000	0.93682	0.650000	0.86243	GCA		0.498	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			21	191	1	0	2.32416e-17	0.002299	3.28556e-17	21	191				
PLCL1	5334	broad.mit.edu	37	2	198949565	198949565	+	Missense_Mutation	SNP	G	G	A	rs201197388		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:198949565G>A	ENST00000428675.1	+	2	1722	c.1324G>A	c.(1324-1326)Gtt>Att	p.V442I	PLCL1_ENST00000437704.2_Missense_Mutation_p.V344I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	442	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTGTCGAAGCGTTGAACTCGA	0.408																																							uc010fsp.2		NA																	0				ovary(1)|skin(1)	2						c.(1324-1326)GTT>ATT		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)	G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	62.0	59.0	60.0		1324	1.0	1.0	2		60	0,8600		0,0,4300	no	missense	PLCL1	NM_006226.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	442/1096	198949565	1,13005	2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949565G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1324G>A	2.37:g.198949565G>A	ENSP00000402861:p.Val442Ile					PLCL1_uc002uuv.3_Missense_Mutation_p.V363I	p.V442I	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	1615	+			442			PI-PLC X-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1324G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	g	2.384	-0.341507	0.05243	2.27E-4	0.0	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.55413	0.52;0.52	5.94	1.05	0.20165	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.279290	0.31031	N	0.008399	T	0.30696	0.0773	N	0.13235	0.315	0.22940	N	0.998531	B;B	0.21147	0.052;0.021	B;B	0.24006	0.05;0.05	T	0.18871	-1.0323	9	.	.	.	.	9.6222	0.39727	0.7455:0.0:0.2545:0.0	.	442;368	Q15111;B4DYZ4	PLCL1_HUMAN;.	I	442;344	ENSP00000402861:V442I;ENSP00000414138:V344I	.	V	+	1	0	PLCL1	198657810	1.000000	0.71417	0.998000	0.56505	0.621000	0.37620	2.516000	0.45520	0.161000	0.19458	-0.405000	0.06341	GTT		0.408	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		4	53	0	0	0	0.000248	0	4	53				
KCTD18	130535	broad.mit.edu	37	2	201355337	201355337	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:201355337C>T	ENST00000359878.3	-	7	1277	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	KCTD18_ENST00000409157.1_Missense_Mutation_p.R256Q|KCTD18_ENST00000468413.1_5'Flank	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	256					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CGTTATCAGTCGCCTAGAAAT	0.393																																							uc002uvs.2		NA																	0				ovary(1)	1						c.(766-768)CGA>CAA		potassium channel tetramerization domain							58.0	61.0	60.0					2																	201355337		2151	4282	6433	SO:0001583	missense	130535					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:201355337C>T	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.767G>A	2.37:g.201355337C>T	ENSP00000352941:p.Arg256Gln					KCTD18_uc002uvt.2_Missense_Mutation_p.R256Q	p.R256Q	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN			7	1284	-			256					Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	c.767G>A	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078487	0.94000	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.56275	0.47;0.47	5.2	5.2	0.72013	.	0.000000	0.53938	D	0.000047	T	0.64494	0.2603	L	0.32530	0.975	0.37137	D	0.901554	D	0.89917	1.0	D	0.80764	0.994	T	0.70788	-0.4777	10	0.87932	D	0	-13.8425	18.5101	0.90913	0.0:1.0:0.0:0.0	.	256	Q6PI47	KCD18_HUMAN	Q	256	ENSP00000352941:R256Q;ENSP00000386751:R256Q	ENSP00000352941:R256Q	R	-	2	0	KCTD18	201063582	0.993000	0.37304	0.761000	0.31378	0.146000	0.21551	2.568000	0.45965	2.699000	0.92147	0.655000	0.94253	CGA		0.393	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387		4	51	0	0	0	0.000248	0	4	51				
AOX1	316	broad.mit.edu	37	2	201515740	201515740	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:201515740A>T	ENST00000374700.2	+	26	3132	c.2891A>T	c.(2890-2892)tAc>tTc	p.Y964F	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	964					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CAAACACCCTACAAACAAGAG	0.418																																							uc002uvx.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(2890-2892)TAC>TTC		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						130.0	118.0	122.0					2																	201515740		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201515740A>T	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2891A>T	2.37:g.201515740A>T	ENSP00000363832:p.Tyr964Phe					AOX1_uc010zhf.1_Missense_Mutation_p.Y520F|AOX1_uc010fsu.2_Missense_Mutation_p.Y330F	p.Y964F	NM_001159	NP_001150	Q06278	ADO_HUMAN			26	2992	+			964					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.2891A>T	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.644168	0.29246	.	.	ENSG00000138356	ENST00000374700	T	0.36157	1.27	5.31	4.16	0.48862	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.386789	0.29767	N	0.011242	T	0.23014	0.0556	L	0.33485	1.01	0.38267	D	0.942058	B	0.21452	0.056	B	0.25405	0.06	T	0.12116	-1.0560	10	0.23891	T	0.37	-13.4581	3.5103	0.07705	0.577:0.0:0.163:0.26	.	964	Q06278	ADO_HUMAN	F	964	ENSP00000363832:Y964F	ENSP00000363832:Y964F	Y	+	2	0	AOX1	201223985	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	2.269000	0.43346	1.041000	0.40125	0.533000	0.62120	TAC		0.418	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		13	58	0	0	0	0.001855	0	13	58				
CHPF	79586	broad.mit.edu	37	2	220404493	220404493	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:220404493A>G	ENST00000243776.6	-	4	2188	c.1940T>C	c.(1939-1941)tTc>tCc	p.F647S	CHPF_ENST00000535926.1_Missense_Mutation_p.F485S	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	647					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGCTGGGTGGAAGGCTTGGAA	0.662																																							uc002vmc.3		NA																	0					0						c.(1939-1941)TTC>TCC		chondroitin polymerizing factor							48.0	51.0	50.0					2																	220404493		2195	4277	6472	SO:0001583	missense	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220404493A>G	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1940T>C	2.37:g.220404493A>G	ENSP00000243776:p.Phe647Ser					CHPF_uc010zlh.1_Missense_Mutation_p.F485S	p.F647S	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	2167	-		Renal(207;0.0183)	647			Lumenal (Potential).		B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	c.1940T>C	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234102	0.58886	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.19938	2.11;2.11	4.99	3.75	0.43078	.	0.133964	0.49305	D	0.000141	T	0.35941	0.0949	L	0.54323	1.7	0.41280	D	0.986905	D	0.53619	0.961	D	0.67103	0.949	T	0.11690	-1.0577	10	0.87932	D	0	-19.9179	8.3522	0.32310	0.6414:0.0:0.0:0.3586	.	647	Q8IZ52	CHSS2_HUMAN	S	647;485	ENSP00000243776:F647S;ENSP00000445571:F485S	ENSP00000243776:F647S	F	-	2	0	CHPF	220112737	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.000000	0.29770	2.011000	0.59026	0.459000	0.35465	TTC		0.662	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		7	87	0	0	0	0.001984	0	7	87				
COL4A3	1285	broad.mit.edu	37	2	228148568	228148568	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:228148568G>C	ENST00000396578.3	+	33	2904	c.2742G>C	c.(2740-2742)caG>caC	p.Q914H	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	914	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CACCAGGGCAGAGGGGTAAGT	0.448																																							uc002vom.1		NA																	0				skin(2)|ovary(1)	3						c.(2740-2742)CAG>CAC		alpha 3 type IV collagen isoform 1 precursor							74.0	78.0	77.0					2																	228148568		1840	4085	5925	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228148568G>C		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.2742G>C	2.37:g.228148568G>C	ENSP00000379823:p.Gln914His					COL4A3_uc002von.1_Missense_Mutation_p.Q914H|COL4A3_uc002voo.1_Missense_Mutation_p.Q914H|COL4A3_uc002vop.1_Missense_Mutation_p.Q914H|uc002voq.1_Intron|uc002vor.1_Intron	p.Q914H	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	33	2904	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	914			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.2742G>C	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	0.203	-1.042907	0.01997	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93426	-3.22	5.49	-0.208	0.13185	.	0.705821	0.12908	N	0.429189	T	0.81678	0.4873	N	0.12611	0.24	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.67007	-0.5779	10	0.13853	T	0.58	.	5.1618	0.15066	0.3356:0.3349:0.3294:0.0	.	914;914;914;914	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	H	914	ENSP00000379823:Q914H	ENSP00000323334:Q914H	Q	+	3	2	COL4A3	227856812	0.000000	0.05858	0.004000	0.12327	0.045000	0.14185	0.211000	0.17474	0.089000	0.17243	-0.150000	0.13652	CAG		0.448	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		7	62	0	0	0	0.001984	0	7	62				
PLCB1	23236	broad.mit.edu	37	20	8717773	8717773	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:8717773G>T	ENST00000338037.6	+	20	2169	c.2142G>T	c.(2140-2142)aaG>aaT	p.K714N	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.K714N|PLCB1_ENST00000378641.3_Missense_Mutation_p.K714N	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	714	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGGCATTTAAGACCAAAACAT	0.388																																							uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(2140-2142)AAG>AAT		phosphoinositide-specific phospholipase C beta 1							135.0	126.0	129.0					20																	8717773		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8717773G>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2142G>T	20.37:g.8717773G>T	ENSP00000338185:p.Lys714Asn					PLCB1_uc010zrb.1_Missense_Mutation_p.K613N|PLCB1_uc002wna.2_Missense_Mutation_p.K714N|PLCB1_uc002wnc.1_Missense_Mutation_p.K613N|PLCB1_uc002wnd.1_Missense_Mutation_p.K291N	p.K714N	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			20	2145	+			714			C2.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.2142G>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721558	0.68959	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719;ENST00000338061;ENST00000439627	T;T;T;T	0.72394	2.22;2.22;2.22;-0.65	5.43	1.26	0.21427	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81283	0.4790	M	0.80616	2.505	0.48341	D	0.999631	P;D	0.58620	0.59;0.983	P;D	0.66847	0.479;0.947	T	0.81495	-0.0907	10	0.87932	D	0	.	10.5377	0.45013	0.2701:0.0:0.7299:0.0	.	714;714	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	N	714;714;714;634;634;60;33	ENSP00000367908:K714N;ENSP00000338185:K714N;ENSP00000367904:K714N;ENSP00000391162:K33N	ENSP00000338185:K714N	K	+	3	2	PLCB1	8665773	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.114000	0.31196	0.350000	0.24002	0.557000	0.71058	AAG		0.388	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			11	38	1	0	0.000978159	0.000978	0.0011179	11	38				
FLRT3	23767	broad.mit.edu	37	20	14306548	14306548	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:14306548C>T	ENST00000378053.3	-	2	1861	c.1605G>A	c.(1603-1605)ggG>ggA	p.G535G	FLRT3_ENST00000341420.4_Silent_p.G535G|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	535					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GGGCCACAGCCCCACCAATGA	0.473																																							uc002wov.1		NA																	0				kidney(1)	1						c.(1603-1605)GGG>GGA		fibronectin leucine rich transmembrane protein 3							120.0	113.0	116.0					20																	14306548		2203	4300	6503	SO:0001819	synonymous_variant	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14306548C>T	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1605G>A	20.37:g.14306548C>T						MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.G535G	p.G535G	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	3	2072	-		Colorectal(1;0.0464)	535			Helical; (Potential).		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Silent	SNP	ENST00000378053.3	37	c.1605G>A	CCDS13121.1																																																																																				0.473	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		4	78	0	0	0	0.000248	0	4	78				
KIF16B	55614	broad.mit.edu	37	20	16352372	16352372	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:16352372G>A	ENST00000354981.2	-	21	3542	c.3385C>T	c.(3385-3387)Cgc>Tgc	p.R1129C	KIF16B_ENST00000355755.3_Missense_Mutation_p.R1129C|KIF16B_ENST00000408042.1_Missense_Mutation_p.R1129C|KIF16B_ENST00000378003.2_Missense_Mutation_p.R355C	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1129					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCCTGAAGGCGTCTTTGGACT	0.438																																							uc002wpg.1		NA																	0				skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(3385-3387)CGC>TGC		kinesin-like motor protein C20orf23							169.0	139.0	149.0					20																	16352372		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16352372G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3385C>T	20.37:g.16352372G>A	ENSP00000347076:p.Arg1129Cys					KIF16B_uc002wpe.1_Missense_Mutation_p.R511C|KIF16B_uc002wpf.1_Missense_Mutation_p.R511C|KIF16B_uc010gch.1_Missense_Mutation_p.R1078C|KIF16B_uc010gci.1_Missense_Mutation_p.R1129C	p.R1129C	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			21	3543	-			1129					A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.3385C>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212224	0.79240	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.81247	-0.73;-0.86;1.69;-1.47	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.88020	0.6325	L	0.59436	1.845	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.88505	0.3085	10	0.87932	D	0	.	16.323	0.82958	0.0:0.0:0.8674:0.1326	.	1129;1129;1129	Q96L93-2;Q96L93-6;Q96L93	.;.;KI16B_HUMAN	C	1129;1129;973;355;1129	ENSP00000347076:R1129C;ENSP00000347995:R1129C;ENSP00000367242:R355C;ENSP00000384164:R1129C	ENSP00000347076:R1129C	R	-	1	0	KIF16B	16300372	1.000000	0.71417	0.991000	0.47740	0.598000	0.36846	4.646000	0.61411	2.743000	0.94032	0.643000	0.83706	CGC		0.438	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		6	44	0	0	0	0.001168	0	6	44				
RRBP1	6238	broad.mit.edu	37	20	17640864	17640864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:17640864G>A	ENST00000377813.1	-	3	592	c.289C>T	c.(289-291)Cga>Tga	p.R97*	RRBP1_ENST00000360807.4_Nonsense_Mutation_p.R97*|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Nonsense_Mutation_p.R97*|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.R97*			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	97					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						ACTGGTTCTCGAAGGAGGACA	0.542																																							uc010zrq.1		NA																	0				ovary(1)	1						c.(289-291)CGA>TGA		SubName: Full=RRBP1 protein; Flags: Fragment;							56.0	44.0	48.0					20																	17640864		2203	4300	6503	SO:0001587	stop_gained	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17640864G>A	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.289C>T	20.37:g.17640864G>A	ENSP00000367044:p.Arg97*					RRBP1_uc002wpu.2_5'Flank|RRBP1_uc002wpv.1_Nonsense_Mutation_p.R97*|RRBP1_uc002wpw.1_Nonsense_Mutation_p.R97*|RRBP1_uc010gcl.1_Intron|RRBP1_uc010zrr.1_Nonsense_Mutation_p.R97*	p.R97*			Q9P2E9	RRBP1_HUMAN			3	643	-			97			Cytoplasmic (Potential).		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Nonsense_Mutation	SNP	ENST00000377813.1	37	c.289C>T		.	.	.	.	.	.	.	.	.	.	G	11.73	1.725441	0.30593	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000398782	.	.	.	4.28	3.15	0.36227	.	0.287190	0.18916	N	0.127604	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-9.7982	9.9083	0.41390	0.0:0.0:0.3961:0.6039	.	.	.	.	X	97	.	ENSP00000246043:R97X	R	-	1	2	RRBP1	17588864	0.999000	0.42202	0.348000	0.25681	0.041000	0.13682	2.556000	0.45862	0.602000	0.29896	-0.309000	0.09137	CGA		0.542	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		5	19	0	0	0	0.000602	0	5	19				
SLC12A5	57468	broad.mit.edu	37	20	44664453	44664453	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:44664453C>T	ENST00000454036.2	+	4	435	c.386C>T	c.(385-387)cCg>cTg	p.P129L	SLC12A5_ENST00000608944.1_Missense_Mutation_p.P55L|SLC12A5_ENST00000372315.1_Missense_Mutation_p.P106L|SLC12A5_ENST00000243964.3_Missense_Mutation_p.P106L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	129					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGTACCTGCCGTGCCTGCAG	0.597																																							uc010zxl.1		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(385-387)CCG>CTG		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						162.0	111.0	128.0					20																	44664453		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44664453C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.386C>T	20.37:g.44664453C>T	ENSP00000387694:p.Pro129Leu					SLC12A5_uc002xra.2_Missense_Mutation_p.P106L|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.P106L	p.P129L	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			4	462	+		Myeloproliferative disorder(115;0.0122)	129			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.386C>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924372	0.92319	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000539566;ENST00000243964	D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0	4.64	4.64	0.57946	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99393	0.9786	H	0.98333	4.205	0.80722	D	1	D;D;D	0.71674	0.997;0.988;0.998	D;P;D	0.76071	0.987;0.89;0.978	D	0.98220	1.0477	10	0.72032	D	0.01	.	16.2286	0.82318	0.0:1.0:0.0:0.0	.	129;106;106	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	L	129;106;106;106	ENSP00000387694:P129L;ENSP00000361389:P106L;ENSP00000446091:P106L;ENSP00000243964:P106L	ENSP00000243964:P106L	P	+	2	0	SLC12A5	44097860	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	7.651000	0.83577	2.410000	0.81850	0.561000	0.74099	CCG		0.597	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			4	28	0	0	0	0.000602	0	4	28				
CDH22	64405	broad.mit.edu	37	20	44806630	44806630	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:44806630G>A	ENST00000372262.3	-	10	2270	c.1870C>T	c.(1870-1872)Ccc>Tcc	p.P624S	CDH22_ENST00000537909.1_Missense_Mutation_p.P624S	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	624					brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				AGGGCGCCGGGGCTGAGGGAG	0.652																																							uc002xrm.2		NA																	0				ovary(4)|skin(1)	5						c.(1870-1872)CCC>TCC		cadherin 22 precursor							72.0	59.0	64.0					20																	44806630		2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44806630G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1870C>T	20.37:g.44806630G>A	ENSP00000361336:p.Pro624Ser					CDH22_uc010ghk.1_Missense_Mutation_p.P624S	p.P624S	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			10	2271	-		Myeloproliferative disorder(115;0.0122)	624			Extracellular (Potential).		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1870C>T	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508161	0.44660	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.31247	1.5;1.5	4.43	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.26195	0.0639	L	0.50333	1.59	0.43029	D	0.994596	B	0.31077	0.307	B	0.24155	0.051	T	0.10941	-1.0608	10	0.59425	D	0.04	.	11.1918	0.48690	0.091:0.0:0.909:0.0	.	624	Q9UJ99	CAD22_HUMAN	S	624	ENSP00000361336:P624S;ENSP00000437790:P624S	ENSP00000361336:P624S	P	-	1	0	CDH22	44240037	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	2.653000	0.46691	1.086000	0.41228	0.655000	0.94253	CCC		0.652	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		8	26	0	0	0	0.00308	0	8	26				
ZNFX1	57169	broad.mit.edu	37	20	47886812	47886812	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:47886812C>G	ENST00000396105.1	-	3	1783	c.1537G>C	c.(1537-1539)Gag>Cag	p.E513Q	ZNFX1_ENST00000371754.4_Missense_Mutation_p.E513Q|ZNFX1_ENST00000371752.1_Missense_Mutation_p.E513Q	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	513							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTGTAGGCCTCAAAGTATGCA	0.522																																							uc002xui.2		NA																	0				ovary(2)	2						c.(1537-1539)GAG>CAG		zinc finger, NFX1-type containing 1							73.0	72.0	73.0					20																	47886812		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47886812C>G	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1537G>C	20.37:g.47886812C>G	ENSP00000379412:p.Glu513Gln						p.E513Q	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	1784	-			513					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.1537G>C	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559547	0.65538	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;D;D	0.90385	-2.56;-2.66;-2.66;-1.55;-2.21	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.96037	0.8709	M	0.88842	2.985	0.54753	D	0.999989	D	0.89917	1.0	D	0.85130	0.997	D	0.95185	0.8303	10	0.39692	T	0.17	-24.9579	18.4298	0.90622	0.0:1.0:0.0:0.0	.	513	Q9P2E3	ZNFX1_HUMAN	Q	513;513;513;513;513;317	ENSP00000360819:E513Q;ENSP00000360817:E513Q;ENSP00000379412:E513Q;ENSP00000360809:E513Q;ENSP00000413800:E317Q	ENSP00000360809:E513Q	E	-	1	0	ZNFX1	47320219	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.925000	0.70062	2.773000	0.95371	0.655000	0.94253	GAG		0.522	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		5	58	0	0	0	0.000602	0	5	58				
ZBP1	81030	broad.mit.edu	37	20	56188371	56188371	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:56188371C>G	ENST00000371173.3	-	5	695	c.518G>C	c.(517-519)aGa>aCa	p.R173T	ZBP1_ENST00000340462.4_Missense_Mutation_p.R150T|ZBP1_ENST00000541799.1_Missense_Mutation_p.R173T|ZBP1_ENST00000395822.3_Missense_Mutation_p.R98T|ZBP1_ENST00000343535.4_Missense_Mutation_p.R173T|ZBP1_ENST00000538947.1_5'Flank	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	173					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TGACTTTGCTCTTCTTCCAGA	0.453																																							uc002xyo.2		NA																	0				ovary(2)	2						c.(517-519)AGA>ACA		Z-DNA binding protein 1 isoform a							180.0	164.0	170.0					20																	56188371		2203	4300	6503	SO:0001583	missense	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56188371C>G	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.518G>C	20.37:g.56188371C>G	ENSP00000360215:p.Arg173Thr					ZBP1_uc010gjm.2_Missense_Mutation_p.R172T|ZBP1_uc002xyp.2_Missense_Mutation_p.R98T|ZBP1_uc010zzn.1_Missense_Mutation_p.R173T	p.R173T	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		5	799	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		173					A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	c.518G>C	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	C	4.354	0.065133	0.08388	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535;ENST00000541799	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	2.86	-0.885	0.10593	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.566394	0.14810	N	0.297112	T	0.14830	0.0358	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.14012	0.004;0.009;0.009;0.009	B;B;B;B	0.12837	0.005;0.008;0.008;0.008	T	0.18241	-1.0343	10	0.29301	T	0.29	-1.6626	4.2584	0.10728	0.0:0.3804:0.4435:0.1761	.	173;173;98;173	F5GYT1;A2RRL9;A2A2F7;Q9H171	.;.;.;ZBP1_HUMAN	T	173;98;150;173;173;173	ENSP00000360215:R173T;ENSP00000379167:R98T;ENSP00000344954:R150T;ENSP00000340584:R173T;ENSP00000440552:R173T	ENSP00000344954:R150T	R	-	2	0	ZBP1	55621777	0.000000	0.05858	0.002000	0.10522	0.080000	0.17528	-0.513000	0.06305	-0.142000	0.11354	-0.467000	0.05162	AGA		0.453	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		4	77	0	0	0	0.000602	0	4	77				
CTSZ	1522	broad.mit.edu	37	20	57576612	57576612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:57576612C>A	ENST00000217131.5	-	3	513	c.395G>T	c.(394-396)tGt>tTt	p.C132F		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	132					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			ACCCCCTTCACAGGAGCCAGC	0.602																																							uc002yai.2		NA																	0				kidney(1)	1						c.(394-396)TGT>TTT		cathepsin Z preproprotein							225.0	160.0	182.0					20																	57576612		2203	4300	6503	SO:0001583	missense	1522				proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity	g.chr20:57576612C>A	AF032906	CCDS13474.1	20q13.32	2012-02-10			ENSG00000101160	ENSG00000101160		"""Cathepsins"""	2547	protein-coding gene	gene with protein product	"""cathepsin X"", ""carboxypeptidase LB"", ""cathepsin IV"", ""cathepsin B2"", ""cathepsin Y"", ""cathepsin Z1"", ""cysteine-type carboxypeptidase"", ""lysosomal carboxypeptidase B"""	603169				9642240	Standard	NM_001336		Approved	CTSX	uc002yai.2	Q9UBR2	OTTHUMG00000032858	ENST00000217131.5:c.395G>T	20.37:g.57576612C>A	ENSP00000217131:p.Cys132Phe					CTSZ_uc002yaj.3_Missense_Mutation_p.C132F	p.C132F	NM_001336	NP_001327	Q9UBR2	CATZ_HUMAN	Colorectal(105;0.109)		3	521	-	all_lung(29;0.00711)		132					B2RC40|O75331|Q9UQV5|Q9UQV6	Missense_Mutation	SNP	ENST00000217131.5	37	c.395G>T	CCDS13474.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359974	0.61403	.	.	ENSG00000101160	ENST00000217131	D	0.95377	-3.69	5.26	5.26	0.73747	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98912	0.9631	H	0.99143	4.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99364	1.0918	10	0.87932	D	0	.	18.9257	0.92544	0.0:1.0:0.0:0.0	.	132;132	Q5U000;Q9UBR2	.;CATZ_HUMAN	F	132	ENSP00000217131:C132F	ENSP00000217131:C132F	C	-	2	0	CTSZ	57010007	1.000000	0.71417	0.403000	0.26384	0.135000	0.20990	7.755000	0.85180	2.465000	0.83290	0.555000	0.69702	TGT		0.602	CTSZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079899.1	NM_001336		8	46	1	0	5.18039e-06	0.00308	6.37587e-06	8	46				
CDH26	60437	broad.mit.edu	37	20	58587739	58587739	+	Intron	SNP	C	C	T	rs145724462	byFrequency	TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:58587739C>T	ENST00000244047.5	+	15	2483				CDH26_ENST00000348616.4_Missense_Mutation_p.A818V|CDH26_ENST00000350849.6_Missense_Mutation_p.A151V|CDH26_ENST00000244049.3_Missense_Mutation_p.A110V|CDH26_ENST00000497614.1_3'UTR			Q8IXH8	CAD26_HUMAN	cadherin 26						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GGTTCAAAAGCGACTCCGTTT	0.453													C|||	13	0.00259585	0.0	0.0	5008	,	,		17434	0.0119		0.0	False		,,,				2504	0.001						uc002ybe.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2452-2454)GCG>GTG		cadherin-like 26 isoform a		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	90.0	90.0	90.0		452,2453	0.4	0.0	20	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CDH26	NM_021810.4,NM_177980.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	151/166,818/833	58587739	1,13005	2203	4300	6503	SO:0001627	intron_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58587739C>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.2172+5897C>T	20.37:g.58587739C>T						CDH26_uc002ybf.1_Intron|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_Missense_Mutation_p.A309V|CDH26_uc002ybh.2_Missense_Mutation_p.A151V|CDH26_uc002ybi.2_Missense_Mutation_p.A110V	p.A818V	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		18	2753	+	all_lung(29;0.00963)		Error:Variant_position_missing_in_Q8IXH8_after_alignment					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.2453C>T		7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	C	10.04	1.240857	0.22711	0.0	1.16E-4	ENSG00000124215	ENST00000348616;ENST00000244049;ENST00000350849	T;T;T	0.76060	0.37;-0.99;-0.99	3.49	0.412	0.16397	.	.	.	.	.	T	0.39200	0.1069	.	.	.	0.09310	N	1	P;B;B	0.44877	0.845;0.023;0.006	B;B;B	0.31290	0.127;0.008;0.005	T	0.31752	-0.9932	8	0.22109	T	0.4	.	3.1267	0.06409	0.2089:0.5591:0.0:0.2321	.	110;151;818	Q8IXH8-5;Q8IXH8-2;Q8IXH8-4	.;.;.	V	818;110;151	ENSP00000339390:A818V;ENSP00000244049:A110V;ENSP00000310845:A151V	ENSP00000244049:A110V	A	+	2	0	CDH26	58021134	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.314000	0.08092	0.118000	0.18165	-1.267000	0.01435	GCG		0.453	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		20	47	0	0	0	0.001882	0	20	47				
MRPL39	54148	broad.mit.edu	37	21	26976215	26976215	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr21:26976215G>A	ENST00000352957.4	-	3	354	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L	MRPL39_ENST00000307301.7_Silent_p.L105L	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	105						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						ACCAGAGCCAGAATGGACTTC	0.363																																							uc002ylo.2		NA																	0					0						c.(313-315)CTG>TTG		mitochondrial ribosomal protein L39 isoform a							67.0	70.0	69.0					21																	26976215		2203	4300	6503	SO:0001819	synonymous_variant	54148					mitochondrial ribosome	nucleotide binding	g.chr21:26976215G>A	AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"""Mitochondrial ribosomal proteins / large subunits"""	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.313C>T	21.37:g.26976215G>A						MRPL39_uc002yln.2_Silent_p.L105L	p.L105L	NM_017446	NP_059142	Q9NYK5	RM39_HUMAN			3	327	-			105					C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Silent	SNP	ENST00000352957.4	37	c.313C>T	CCDS13573.1																																																																																				0.363	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446		4	23	0	0	0	0.000602	0	4	23				
ADAMTS5	11096	broad.mit.edu	37	21	28306881	28306881	+	Silent	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr21:28306881G>T	ENST00000284987.5	-	4	1714	c.1593C>A	c.(1591-1593)acC>acA	p.T531T	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	531	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCAGCTTCTTGGTCAGACAGA	0.542																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1591-1593)ACC>ACA		ADAM metallopeptidase with thrombospondin type 1							96.0	83.0	88.0					21																	28306881		2203	4300	6503	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28306881G>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1593C>A	21.37:g.28306881G>T							p.T531T	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			4	2322	-			531			Disintegrin.		Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.1593C>A	CCDS13579.1																																																																																				0.542	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			7	52	1	0	2.0095e-06	0.001984	2.50831e-06	7	52				
DSCAM	1826	broad.mit.edu	37	21	41416149	41416149	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr21:41416149C>A	ENST00000400454.1	-	31	5716	c.5239G>T	c.(5239-5241)Gcc>Tcc	p.A1747S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1747					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACTGGCTGGCATAGCGGTTT	0.597																																					Melanoma(134;970 1778 1785 21664 32388)	Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(5239-5241)GCC>TCC		Down syndrome cell adhesion molecule isoform							87.0	98.0	94.0					21																	41416149		2121	4240	6361	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41416149C>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5239G>T	21.37:g.41416149C>A	ENSP00000383303:p.Ala1747Ser					DSCAM_uc002yyr.1_RNA	p.A1747S	NM_001389	NP_001380	O60469	DSCAM_HUMAN			31	5691	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1747			Cytoplasmic (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.5239G>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	c	8.672	0.902969	0.17760	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.59502	0.26;0.31	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	N	0.11201	0.11	0.44508	D	0.997454	D	0.69078	0.997	D	0.75020	0.985	T	0.48592	-0.9022	10	0.02654	T	1	.	14.3454	0.66658	0.148:0.852:0.0:0.0	.	1747	O60469	DSCAM_HUMAN	S	1747;1499	ENSP00000383303:A1747S;ENSP00000385342:A1499S	ENSP00000383303:A1747S	A	-	1	0	DSCAM	40338019	1.000000	0.71417	0.993000	0.49108	0.901000	0.52897	3.775000	0.55349	2.605000	0.88082	0.655000	0.94253	GCC		0.597	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		10	32	1	0	3.86212e-05	0.008291	4.63982e-05	10	32				
ZBTB21	49854	broad.mit.edu	37	21	43411294	43411294	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr21:43411294C>A	ENST00000310826.5	-	3	3094	c.2911G>T	c.(2911-2913)Gaa>Taa	p.E971*	ZBTB21_ENST00000398499.1_Nonsense_Mutation_p.E971*|ZBTB21_ENST00000398511.3_Nonsense_Mutation_p.E971*|ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398505.3_Nonsense_Mutation_p.E770*	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	971					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										ACCTCAGATTCCTTATGTGCC	0.537																																							uc002zab.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2911-2913)GAA>TAA		zinc finger protein 295 isoform L							94.0	94.0	94.0					21																	43411294		2203	4300	6503	SO:0001587	stop_gained	49854				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding	g.chr21:43411294C>A	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2911G>T	21.37:g.43411294C>A	ENSP00000308759:p.Glu971*					ZNF295_uc002yzz.3_Nonsense_Mutation_p.E770*|ZNF295_uc002yzy.3_Nonsense_Mutation_p.E971*|ZNF295_uc002zaa.3_Nonsense_Mutation_p.E971*	p.E971*	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN			3	3125	-			971					Q5R2W1|Q5R2W2|Q6P4R0	Nonsense_Mutation	SNP	ENST00000310826.5	37	c.2911G>T	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	36	5.658443	0.96734	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	.	.	.	5.5	5.5	0.81552	.	0.511061	0.18598	N	0.136524	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-10.0419	19.4084	0.94658	0.0:1.0:0.0:0.0	.	.	.	.	X	770;971;971;971	.	ENSP00000308759:E971X	E	-	1	0	ZNF295	42284363	1.000000	0.71417	0.130000	0.21974	0.125000	0.20455	5.312000	0.65792	2.593000	0.87608	0.655000	0.94253	GAA		0.537	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		8	72	1	0	2.17888e-05	0.006214	2.63562e-05	8	72				
ZBTB21	49854	broad.mit.edu	37	21	43412359	43412359	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr21:43412359C>A	ENST00000310826.5	-	3	2029	c.1846G>T	c.(1846-1848)Gaa>Taa	p.E616*	ZBTB21_ENST00000398499.1_Nonsense_Mutation_p.E616*|ZBTB21_ENST00000398511.3_Nonsense_Mutation_p.E616*|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Intron	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	616					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										TGGAATTTTTCATCCAAAACA	0.453																																							uc002zab.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1846-1848)GAA>TAA		zinc finger protein 295 isoform L							100.0	106.0	104.0					21																	43412359		2203	4300	6503	SO:0001587	stop_gained	49854				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding	g.chr21:43412359C>A	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.1846G>T	21.37:g.43412359C>A	ENSP00000308759:p.Glu616*					ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Nonsense_Mutation_p.E616*|ZNF295_uc002zaa.3_Nonsense_Mutation_p.E616*	p.E616*	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN			3	2060	-			616					Q5R2W1|Q5R2W2|Q6P4R0	Nonsense_Mutation	SNP	ENST00000310826.5	37	c.1846G>T	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	39	7.692263	0.98438	.	.	ENSG00000173276	ENST00000310826;ENST00000398499;ENST00000398511	.	.	.	5.61	5.61	0.85477	.	0.062980	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-21.3653	19.639	0.95749	0.0:1.0:0.0:0.0	.	.	.	.	X	616	.	ENSP00000308759:E616X	E	-	1	0	ZNF295	42285428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.289000	0.78701	2.641000	0.89580	0.591000	0.81541	GAA		0.453	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		7	78	1	0	2.17888e-05	0.006214	2.63562e-05	7	78				
TTC38	55020	broad.mit.edu	37	22	46682990	46682990	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr22:46682990C>T	ENST00000381031.3	+	10	931	c.855C>T	c.(853-855)gcC>gcT	p.A285A	TTC38_ENST00000445282.2_Silent_p.A227A	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	285						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						GCCTGCAGGCCAACGATGCAA	0.647																																							uc003bhi.2		NA																	0				ovary(1)	1						c.(853-855)GCC>GCT		tetratricopeptide repeat domain 38							38.0	43.0	41.0					22																	46682990		2123	4253	6376	SO:0001819	synonymous_variant	55020						binding	g.chr22:46682990C>T		CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.855C>T	22.37:g.46682990C>T						TTC38_uc011aqx.1_Silent_p.A227A	p.A285A	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN			10	931	+			285			TPR 3.		Q8WV27|Q9NWP8	Silent	SNP	ENST00000381031.3	37	c.855C>T	CCDS43030.1																																																																																				0.647	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931		9	15	0	0	0	0.004482	0	9	15				
CHL1	10752	broad.mit.edu	37	3	396330	396330	+	Silent	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:396330T>C	ENST00000256509.2	+	11	1683	c.1041T>C	c.(1039-1041)ccT>ccC	p.P347P	CHL1_ENST00000397491.2_Silent_p.P331P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAGAGCCTCCTCGCTGGACAA	0.453																																							uc003bou.2		NA																	0				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(991-993)CCT>CCC		cell adhesion molecule with homology to L1CAM							113.0	119.0	117.0					3																	396330		2203	4300	6503	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:396330T>C	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1041T>C	3.37:g.396330T>C						CHL1_uc003bot.2_Silent_p.P347P|CHL1_uc003bow.1_Silent_p.P331P|CHL1_uc011asi.1_Silent_p.P347P	p.P331P	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	10	1264	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	331			Ig-like C2-type 4.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.993T>C	CCDS2556.1																																																																																				0.453	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		18	103	0	0	0	0.006122	0	18	103				
TIMP4	7079	broad.mit.edu	37	3	12195027	12195027	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:12195027G>A	ENST00000287814.4	-	5	1173	c.663C>T	c.(661-663)atC>atT	p.I221I	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	221					central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						AGGGCTGAACGATGTCAACAA	0.532																																					Melanoma(199;1446 2144 30617 38794 51714)	Melanoma(199;1446 2144 30617 38794 51714)	uc003bwo.2		NA																	0					0						c.(661-663)ATC>ATT		tissue inhibitor of metalloproteinase 4							142.0	125.0	131.0					3																	12195027		2203	4300	6503	SO:0001819	synonymous_variant	7079						metal ion binding|metalloendopeptidase inhibitor activity	g.chr3:12195027G>A	U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"""tissue inhibitor of metalloproteinase 4"""			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763	ENST00000287814.4:c.663C>T	3.37:g.12195027G>A						SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.2_Intron|SYN2_uc003bwn.2_Intron	p.I221I	NM_003256	NP_003247	Q99727	TIMP4_HUMAN			5	970	-			221					B2R7K6	Silent	SNP	ENST00000287814.4	37	c.663C>T	CCDS2608.1																																																																																				0.532	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251978.1	NM_003256		10	82	0	0	0	0.006214	0	10	82				
WDR6	11180	broad.mit.edu	37	3	49051255	49051255	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:49051255C>G	ENST00000608424.1	+	2	2327	c.2288C>G	c.(2287-2289)tCa>tGa	p.S763*	WDR6_ENST00000448293.1_Nonsense_Mutation_p.S712*|WDR6_ENST00000395474.3_Nonsense_Mutation_p.S793*|WDR6_ENST00000415265.2_Nonsense_Mutation_p.S211*			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	763					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ACCACAGGCTCAGCCCACGCA	0.577											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003cvj.2		NA																	0				central_nervous_system(1)	1						c.(2377-2379)TCA>TGA		WD repeat domain 6 protein							91.0	85.0	87.0					3																	49051255		2203	4300	6503	SO:0001587	stop_gained	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49051255C>G	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2288C>G	3.37:g.49051255C>G	ENSP00000477389:p.Ser763*		OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	959	WDR6_uc011bbx.1_3'UTR|WDR6_uc011bby.1_Nonsense_Mutation_p.S241*|WDR6_uc010hkn.2_Nonsense_Mutation_p.S737*|WDR6_uc011bbz.1_Nonsense_Mutation_p.S712*	p.S793*	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	2516	+			763			WD 12.		B4DHK2|Q3MIT1|Q9UF63	Nonsense_Mutation	SNP	ENST00000608424.1	37	c.2378C>G		.	.	.	.	.	.	.	.	.	.	C	40	8.443250	0.98813	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	.	.	.	5.69	5.69	0.88448	.	0.885835	0.09950	N	0.734795	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-4.5712	15.3157	0.74074	0.0:0.8607:0.1393:0.0	.	.	.	.	X	793;211;712	.	ENSP00000378857:S793X	S	+	2	0	WDR6	49026259	0.000000	0.05858	0.774000	0.31636	0.930000	0.56654	1.194000	0.32174	2.689000	0.91719	0.561000	0.74099	TCA		0.577	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			12	40	0	0	0	0.001368	0	12	40				
GTPBP8	29083	broad.mit.edu	37	3	112710151	112710151	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:112710151T>C	ENST00000383678.2	+	1	387	c.305T>C	c.(304-306)aTc>aCc	p.I102T	RP11-484K9.4_ENST00000609673.1_RNA|GTPBP8_ENST00000383677.3_Missense_Mutation_p.I102T|GTPBP8_ENST00000467752.1_5'Flank|GTPBP8_ENST00000473129.1_5'Flank	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	102					barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						GCCGTCCGTATCGACCACGCC	0.652																																							uc003dzn.2		NA																	0					0						c.(304-306)ATC>ACC		GTP-binding protein 8 isoform 1							31.0	31.0	31.0					3																	112710151		2186	4279	6465	SO:0001583	missense	29083				barrier septum formation		GTP binding	g.chr3:112710151T>C	BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.305T>C	3.37:g.112710151T>C	ENSP00000373176:p.Ile102Thr					GTPBP8_uc011bhy.1_RNA|GTPBP8_uc003dzp.2_RNA|GTPBP8_uc003dzo.2_Missense_Mutation_p.I102T	p.I102T	NM_014170	NP_054889	Q8N3Z3	GTPB8_HUMAN			1	352	+			102					A6NE99|A6NN11|A8K0P6|Q5I0Y4	Missense_Mutation	SNP	ENST00000383678.2	37	c.305T>C	CCDS33820.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.431119	0.25726	.	.	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485	T;T	0.43294	2.57;0.95	5.93	4.77	0.60923	.	0.160212	0.49916	D	0.000130	T	0.24812	0.0602	N	0.08118	0	0.80722	D	1	B;B	0.11235	0.002;0.004	B;B	0.08055	0.003;0.003	T	0.04360	-1.0957	10	0.72032	D	0.01	-3.1084	11.7345	0.51757	0.1323:0.0:0.0:0.8676	.	102;102	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	T	102	ENSP00000373176:I102T;ENSP00000373175:I102T	ENSP00000295864:I102T	I	+	2	0	GTPBP8	114192841	0.997000	0.39634	0.008000	0.14137	0.006000	0.05464	3.421000	0.52742	1.057000	0.40506	-0.301000	0.09380	ATC		0.652	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354260.2	NM_014170		6	28	0	0	0	0.001168	0	6	28				
KIAA1407	57577	broad.mit.edu	37	3	113755597	113755597	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:113755597G>A	ENST00000295878.3	-	5	598	c.452C>T	c.(451-453)aCc>aTc	p.T151I	KIAA1407_ENST00000545063.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	151										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTGAACGGTGGTACTTTCCTC	0.338																																							uc003eax.2		NA																	0				ovary(2)	2						c.(451-453)ACC>ATC		hypothetical protein LOC57577							101.0	96.0	98.0					3																	113755597		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113755597G>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.452C>T	3.37:g.113755597G>A	ENSP00000295878:p.Thr151Ile					KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.T129I|KIAA1407_uc011bip.1_Missense_Mutation_p.T138I	p.T151I	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN			5	599	-			151					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.452C>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288426	0.40494	.	.	ENSG00000163617	ENST00000295878;ENST00000491000;ENST00000483766	T;T	0.47528	1.42;0.84	5.28	4.38	0.52667	.	0.530265	0.19819	N	0.105344	T	0.61350	0.2340	L	0.56769	1.78	0.80722	D	1	D;B;D	0.56746	0.977;0.091;0.977	P;B;P	0.58873	0.847;0.039;0.847	T	0.65384	-0.6181	10	0.72032	D	0.01	.	15.1492	0.72684	0.0:0.0:0.8578:0.1422	.	138;27;151	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	I	151;138;115	ENSP00000295878:T151I;ENSP00000418099:T138I	ENSP00000295878:T151I	T	-	2	0	KIAA1407	115238287	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.787000	0.47798	1.384000	0.46424	0.650000	0.86243	ACC		0.338	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		6	30	0	0	0	0.001168	0	6	30				
ADCY5	111	broad.mit.edu	37	3	123071356	123071356	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:123071356A>T	ENST00000462833.1	-	2	2419	c.1207T>A	c.(1207-1209)Tcc>Acc	p.S403T	ADCY5_ENST00000470367.1_5'UTR|ADCY5_ENST00000491190.1_Missense_Mutation_p.S36T|ADCY5_ENST00000309879.5_Missense_Mutation_p.S53T	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	403					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGTCTCTGGGAGACCTCAGCC	0.607																																							uc003egh.1		NA																	0				ovary(4)	4						c.(1207-1209)TCC>ACC		adenylate cyclase 5							73.0	73.0	73.0					3																	123071356		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123071356A>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1207T>A	3.37:g.123071356A>T	ENSP00000419361:p.Ser403Thr					ADCY5_uc003egg.1_Missense_Mutation_p.S36T|ADCY5_uc003egi.1_5'UTR	p.S403T	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	2	1207	-			403			Cytoplasmic (Potential).		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.1207T>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448476	0.84101	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.80994	-1.01;-1.44;-1.43	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	D	0.82559	0.5063	L	0.48877	1.53	0.58432	D	0.999995	B;D	0.61080	0.397;0.989	B;P	0.55508	0.186;0.777	T	0.81534	-0.0889	10	0.33940	T	0.23	.	14.8022	0.69924	1.0:0.0:0.0:0.0	.	403;36	O95622;B3KWA8	ADCY5_HUMAN;.	T	403;36;53	ENSP00000419361:S403T;ENSP00000418537:S36T;ENSP00000308685:S53T	ENSP00000308685:S53T	S	-	1	0	ADCY5	124554046	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.761000	0.68801	2.079000	0.62486	0.459000	0.35465	TCC		0.607	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		12	43	0	0	0	0.001855	0	12	43				
EPHB1	2047	broad.mit.edu	37	3	134670690	134670690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:134670690C>T	ENST00000398015.3	+	3	971	c.601C>T	c.(601-603)Caa>Taa	p.Q201*	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	201	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAGCATTGTGCAAAATTTTGC	0.478																																							uc003eqt.2		NA																	0				lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(601-603)CAA>TAA		ephrin receptor EphB1 precursor							198.0	189.0	192.0					3																	134670690		1938	4140	6078	SO:0001587	stop_gained	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670690C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.601C>T	3.37:g.134670690C>T	ENSP00000381097:p.Gln201*					EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Intron	p.Q201*	NM_004441	NP_004432	P54762	EPHB1_HUMAN			3	821	+			201			Extracellular (Potential).|Cys-rich.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Nonsense_Mutation	SNP	ENST00000398015.3	37	c.601C>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	37	6.423583	0.97555	.	.	ENSG00000154928	ENST00000398015	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0895	0.93221	0.0:1.0:0.0:0.0	.	.	.	.	X	201	.	.	Q	+	1	0	EPHB1	136153380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.509000	0.84616	0.561000	0.74099	CAA		0.478	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		32	135	0	0	0	0.002096	0	32	135				
XRN1	54464	broad.mit.edu	37	3	142095375	142095375	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:142095375T>A	ENST00000264951.4	-	24	2894	c.2777A>T	c.(2776-2778)tAc>tTc	p.Y926F	XRN1_ENST00000392981.2_Missense_Mutation_p.Y926F	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	926					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGAAACAAGGTATCCACTCAC	0.323																																							uc003eus.2		NA																	0				ovary(3)	3						c.(2776-2778)TAC>TTC		5'-3' exoribonuclease 1 isoform a							41.0	43.0	43.0					3																	142095375		2202	4298	6500	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142095375T>A	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.2777A>T	3.37:g.142095375T>A	ENSP00000264951:p.Tyr926Phe					XRN1_uc010huu.2_Missense_Mutation_p.Y392F|XRN1_uc003eut.2_Missense_Mutation_p.Y926F|XRN1_uc003euu.2_Missense_Mutation_p.Y926F|XRN1_uc003euv.1_Missense_Mutation_p.Y787F	p.Y926F	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			24	2844	-			926					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.2777A>T	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.947571	0.73787	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.30182	1.54;1.54	5.53	5.53	0.82687	.	0.065445	0.64402	D	0.000007	T	0.38612	0.1047	M	0.67953	2.075	0.80722	D	1	P;P;P	0.46912	0.607;0.886;0.818	B;P;B	0.46975	0.135;0.533;0.333	T	0.18429	-1.0337	10	0.15066	T	0.55	-9.3163	15.6489	0.77076	0.0:0.0:0.0:1.0	.	787;926;926	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	F	926	ENSP00000264951:Y926F;ENSP00000376707:Y926F	ENSP00000264951:Y926F	Y	-	2	0	XRN1	143578065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.665000	0.83852	2.112000	0.64535	0.482000	0.46254	TAC		0.323	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		3	8	0	0	0	0.000248	0	3	8				
SI	6476	broad.mit.edu	37	3	164737452	164737452	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:164737452C>A	ENST00000264382.3	-	28	3423	c.3361G>T	c.(3361-3363)Gca>Tca	p.A1121S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1121	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CGCTTAAATGCTGTATGTTCC	0.438										HNSCC(35;0.089)																													uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3361-3363)GCA>TCA		sucrase-isomaltase	Acarbose(DB00284)						134.0	127.0	129.0					3																	164737452		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164737452C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3361G>T	3.37:g.164737452C>A	ENSP00000264382:p.Ala1121Ser	HNSCC(35;0.089)					p.A1121S	NM_001041	NP_001032	P14410	SUIS_HUMAN			28	3423	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1121			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3361G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	4.048	0.006649	0.07866	.	.	ENSG00000090402	ENST00000264382	D	0.84873	-1.91	4.57	1.67	0.24075	Glycoside hydrolase-type carbohydrate-binding (1);	0.332110	0.30714	N	0.009031	T	0.56717	0.2004	N	0.04043	-0.29	0.25744	N	0.985123	B	0.18610	0.029	B	0.16722	0.016	T	0.49000	-0.8984	10	0.02654	T	1	.	0.8449	0.01159	0.1588:0.3453:0.1549:0.3411	.	1121	P14410	SUIS_HUMAN	S	1121	ENSP00000264382:A1121S	ENSP00000264382:A1121S	A	-	1	0	SI	166220146	0.000000	0.05858	0.786000	0.31890	0.993000	0.82548	0.467000	0.22035	0.551000	0.29008	0.591000	0.81541	GCA		0.438	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		6	45	1	0	8.12818e-05	0.001984	9.6334e-05	6	45				
SI	6476	broad.mit.edu	37	3	164786586	164786586	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:164786586G>T	ENST00000264382.3	-	5	469	c.407C>A	c.(406-408)cCt>cAt	p.P136H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	136	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AAATAGTGTAGGTGAAGGTAT	0.333										HNSCC(35;0.089)																													uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(406-408)CCT>CAT		sucrase-isomaltase	Acarbose(DB00284)						124.0	128.0	126.0					3																	164786586		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164786586G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.407C>A	3.37:g.164786586G>T	ENSP00000264382:p.Pro136His	HNSCC(35;0.089)					p.P136H	NM_001041	NP_001032	P14410	SUIS_HUMAN			5	469	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	136			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.407C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329629	0.81690	.	.	ENSG00000090402	ENST00000264382	D	0.85702	-2.02	5.5	5.5	0.81552	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.92967	0.7762	M	0.90814	3.15	0.58432	D	0.999999	D	0.71674	0.998	P	0.57720	0.826	D	0.93846	0.7141	10	0.72032	D	0.01	.	19.7599	0.96309	0.0:0.0:1.0:0.0	.	136	P14410	SUIS_HUMAN	H	136	ENSP00000264382:P136H	ENSP00000264382:P136H	P	-	2	0	SI	166269280	1.000000	0.71417	0.990000	0.47175	0.766000	0.43426	8.017000	0.88712	2.750000	0.94351	0.467000	0.42956	CCT		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		7	44	1	0	5.18039e-06	0.00308	6.37587e-06	7	44				
OPA1	4976	broad.mit.edu	37	3	193372741	193372741	+	Silent	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:193372741A>T	ENST00000392438.3	+	20	2172	c.1938A>T	c.(1936-1938)tcA>tcT	p.S646S	OPA1_ENST00000361908.3_Silent_p.S683S|OPA1_ENST00000361150.2_Silent_p.S647S|OPA1_ENST00000361828.2_Silent_p.S664S|OPA1_ENST00000361510.2_Silent_p.S701S|OPA1_ENST00000361715.2_Silent_p.S665S	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	646			S -> L (in OPA1). {ECO:0000269|PubMed:19319978}.		apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CCATGAATTCAGGAACTTTTA	0.363																																							uc003ftm.2		NA																	0					0						c.(1936-1938)TCA>TCT		optic atrophy 1 isoform 1							89.0	87.0	88.0					3																	193372741		2203	4300	6503	SO:0001819	synonymous_variant	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193372741A>T	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1938A>T	3.37:g.193372741A>T						OPA1_uc003ftg.2_Silent_p.S701S|OPA1_uc003fth.2_Silent_p.S665S|OPA1_uc003fti.2_Silent_p.S683S|OPA1_uc003ftj.2_Silent_p.S664S|OPA1_uc003ftk.2_Silent_p.S647S|OPA1_uc003ftl.2_Silent_p.S628S|OPA1_uc003ftn.2_Silent_p.S610S	p.S646S	NM_015560	NP_056375	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	20	2172	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		646		S -> L (in OPA1).	Mitochondrial intermembrane (By similarity).		D3DNW4	Silent	SNP	ENST00000392438.3	37	c.1938A>T	CCDS43186.1																																																																																				0.363	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		4	9	0	0	0	0.000248	0	4	9				
ZNF718	255403	broad.mit.edu	37	4	155318	155318	+	lincRNA	SNP	A	A	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:155318A>C	ENST00000510175.1	+	0	753							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CTGCACAAAAATACTACAAAT	0.363																																							uc003fzt.3		NA																	0					0						c.(841-843)AAA>AAC		zinc finger protein 718							39.0	44.0	42.0					4																	155318		2070	4240	6310			255403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:155318A>C	AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155318A>C						ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Missense_Mutation_p.N61T	p.K281N	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	8	976	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	281					Q3SXZ4|Q3SXZ5	Missense_Mutation	SNP	ENST00000510175.1	37	c.843A>C																																																																																					0.363	ZNF718-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000357865.3	NM_001039127		5	29	0	0	0	0.001168	0	5	29				
GAK	2580	broad.mit.edu	37	4	884359	884359	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:884359G>A	ENST00000314167.4	-	10	1152	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	GAK_ENST00000511163.1_Missense_Mutation_p.P269S	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	348	Poly-Pro.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ACGGGAGGGGGTGGCCCTCGG	0.647																																							uc003gbm.3		NA																	0				lung(2)|central_nervous_system(1)|skin(1)	4						c.(1042-1044)CCC>TCC		cyclin G associated kinase							32.0	35.0	34.0					4																	884359		2195	4298	6493	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:884359G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1042C>T	4.37:g.884359G>A	ENSP00000314499:p.Pro348Ser					GAK_uc003gbn.3_Missense_Mutation_p.P269S|GAK_uc010ibk.1_Missense_Mutation_p.P242S|GAK_uc003gbl.3_Missense_Mutation_p.P212S	p.P348S	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	10	1241	-			348			Poly-Pro.		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.1042C>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	7.308	0.614344	0.14129	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.78364	-0.7;-1.17	2.59	0.826	0.18829	.	4.221150	0.00559	N	0.000278	T	0.67458	0.2895	L	0.35854	1.095	0.25690	N	0.985707	B;B;B;B	0.15473	0.005;0.013;0.003;0.004	B;B;B;B	0.09377	0.003;0.004;0.004;0.003	T	0.42378	-0.9455	10	0.22109	T	0.4	-8.9124	4.8082	0.13329	0.3102:0.0:0.6898:0.0	.	269;269;348;244	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	S	348;269	ENSP00000314499:P348S;ENSP00000421361:P269S	ENSP00000314499:P348S	P	-	1	0	GAK	874359	0.199000	0.23386	0.004000	0.12327	0.236000	0.25371	2.066000	0.41452	0.178000	0.19917	0.462000	0.41574	CCC		0.647	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		6	36	0	0	0	0.001984	0	6	36				
HGFAC	3083	broad.mit.edu	37	4	3451002	3451002	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:3451002C>T	ENST00000382774.3	+	14	1939	c.1824C>T	c.(1822-1824)ggC>ggT	p.G608G	HGFAC_ENST00000511533.1_Silent_p.G615G	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	608	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G608G(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGAAGAACGGCGTGGCTTACC	0.677																																							uc003ghc.2		NA																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(1822-1824)GGC>GGT		HGF activator preproprotein							52.0	64.0	60.0					4																	3451002		2203	4298	6501	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3451002C>T	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1824C>T	4.37:g.3451002C>T						HGFAC_uc010icw.2_Silent_p.G615G	p.G608G	NM_001528	NP_001519	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	14	1827	+			608			Peptidase S1.		Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.1824C>T	CCDS3369.1																																																																																				0.677	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			14	72	0	0	0	0.00499	0	14	72				
GPR125	166647	broad.mit.edu	37	4	22390066	22390066	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:22390066G>A	ENST00000334304.5	-	19	3497	c.3228C>T	c.(3226-3228)ccC>ccT	p.P1076P	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1076					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TAGAGTTGGGGGGCTGGACGT	0.498																																							uc003gqm.1		NA																	0				skin(1)	1						c.(3226-3228)CCC>CCT		G protein-coupled receptor 125 precursor							66.0	55.0	59.0					4																	22390066		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390066G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3228C>T	4.37:g.22390066G>A						GPR125_uc010ieo.1_Silent_p.P932P|GPR125_uc003gql.1_Silent_p.P203P	p.P1076P	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			19	3493	-		Breast(46;0.198)	1076			Cytoplasmic (Potential).		Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.3228C>T	CCDS33964.1																																																																																				0.498	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			5	27	0	0	0	0.000602	0	5	27				
MRPL1	65008	broad.mit.edu	37	4	78830471	78830471	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:78830471A>T	ENST00000315567.8	+	7	1051	c.722A>T	c.(721-723)cAt>cTt	p.H241L		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	241					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						AAAAATGGACATGAAATTAAG	0.308																																							uc003hku.2		NA																	0					0						c.(721-723)CAT>CTT		mitochondrial ribosomal protein L1 precursor							85.0	95.0	91.0					4																	78830471		2203	4293	6496	SO:0001583	missense	65008						RNA binding	g.chr4:78830471A>T	AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"""Mitochondrial ribosomal proteins / large subunits"""	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.722A>T	4.37:g.78830471A>T	ENSP00000315017:p.His241Leu					MRPL1_uc010iji.1_Missense_Mutation_p.H164L	p.H241L	NM_020236	NP_064621	Q9BYD6	RM01_HUMAN			7	920	+			241					A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Missense_Mutation	SNP	ENST00000315567.8	37	c.722A>T	CCDS3583.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.27|10.27	1.302804|1.302804	0.23736|0.23736	.|.	.|.	ENSG00000169288|ENSG00000169288	ENST00000315567;ENST00000538314|ENST00000504901	T|.	0.30448|.	1.53|.	5.56|5.56	-0.0168|-0.0168	0.13970|0.13970	Ribosomal protein L1, superfamily (1);|.	0.271361|.	0.41396|.	N|.	0.000900|.	T|T	0.47248|0.47248	0.1435|0.1435	L|L	0.31420|0.31420	0.93|0.93	0.40620|0.40620	D|D	0.98175|0.98175	B;B|.	0.11235|.	0.004;0.001|.	B;B|.	0.12156|.	0.007;0.007|.	T|T	0.25676|0.25676	-1.0125|-1.0125	10|5	0.29301|.	T|.	0.29|.	-0.5287|-0.5287	9.6889|9.6889	0.40116|0.40116	0.4429:0.0:0.0:0.5571|0.4429:0.0:0.0:0.5571	.|.	219;241|.	A0PJ79;Q9BYD6|.	.;RM01_HUMAN|.	L|L	241;219|35	ENSP00000315017:H241L|.	ENSP00000315017:H241L|.	H|M	+|+	2|1	0|0	MRPL1|MRPL1	79049495|79049495	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.547000|0.547000	0.35210|0.35210	1.095000|1.095000	0.30964|0.30964	-0.197000|-0.197000	0.10350|0.10350	-1.447000|-1.447000	0.01057|0.01057	CAT|ATG		0.308	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236		11	69	0	0	0	0.003163	0	11	69				
HADH	3033	broad.mit.edu	37	4	108935703	108935703	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:108935703G>A	ENST00000309522.3	+	3	527	c.378G>A	c.(376-378)gtG>gtA	p.V126V	HADH_ENST00000403312.1_Silent_p.V185V|HADH_ENST00000603302.1_Silent_p.V126V|HADH_ENST00000454409.2_Silent_p.V130V|HADH_ENST00000505878.1_Silent_p.V130V	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	454					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		ATCTGAAGGTGAAAAACGAGC	0.448																																							uc003hyq.2		NA																	0				ovary(1)	1						c.(376-378)GTG>GTA		L-3-hydroxyacyl-Coenzyme A dehydrogenase	NADH(DB00157)						159.0	144.0	149.0					4																	108935703		2203	4300	6503	SO:0001819	synonymous_variant	3033				fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding	g.chr4:108935703G>A	X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.378G>A	4.37:g.108935703G>A						HADH_uc010ilx.2_Silent_p.V126V|HADH_uc010ily.2_Intron|HADH_uc003hyr.2_Silent_p.V130V	p.V126V	NM_005327	NP_005318	Q16836	HCDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	3	527	+		Hepatocellular(203;0.217)	126					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Silent	SNP	ENST00000309522.3	37	c.378G>A	CCDS3678.1																																																																																				0.448	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2	NM_005327		46	39	0	0	0	0.00361	0	46	39				
PDE5A	8654	broad.mit.edu	37	4	120528141	120528141	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:120528141A>T	ENST00000354960.3	-	2	783	c.464T>A	c.(463-465)tTa>tAa	p.L155*	PDE5A_ENST00000394439.1_Nonsense_Mutation_p.L103*|PDE5A_ENST00000264805.5_Nonsense_Mutation_p.L113*	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	155					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	ATCCTTCACTAATTCCAAGAG	0.438																																							uc003idh.2		NA																	0					0						c.(463-465)TTA>TAA		phosphodiesterase 5A isoform 1	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						123.0	118.0	120.0					4																	120528141		2203	4300	6503	SO:0001587	stop_gained	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120528141A>T	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.464T>A	4.37:g.120528141A>T	ENSP00000347046:p.Leu155*					PDE5A_uc003idf.2_Nonsense_Mutation_p.L113*|PDE5A_uc003idg.2_Nonsense_Mutation_p.L103*	p.L155*	NM_001083	NP_001074	O76074	PDE5A_HUMAN			2	619	-			155					A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Nonsense_Mutation	SNP	ENST00000354960.3	37	c.464T>A	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	A	39	7.668121	0.98422	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805;ENST00000420633	.	.	.	5.64	5.64	0.86602	.	0.698211	0.12801	N	0.437976	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8735	0.79141	1.0:0.0:0.0:0.0	.	.	.	.	X	155;103;113;103	.	ENSP00000264805:L113X	L	-	2	0	PDE5A	120747589	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	9.289000	0.96061	2.149000	0.67028	0.533000	0.62120	TTA		0.438	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		5	40	0	0	0	0.000602	0	5	40				
FAT4	79633	broad.mit.edu	37	4	126411587	126411587	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:126411587C>A	ENST00000394329.3	+	17	13623	c.13610C>A	c.(13609-13611)cCc>cAc	p.P4537H	FAT4_ENST00000335110.5_Missense_Mutation_p.P2778H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4537					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCAAAAATCCCAAAGAGGAG	0.527																																							uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(13609-13611)CCC>CAC		FAT tumor suppressor homolog 4 precursor							62.0	66.0	64.0					4																	126411587		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411587C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13610C>A	4.37:g.126411587C>A	ENSP00000377862:p.Pro4537His					FAT4_uc011cgp.1_Missense_Mutation_p.P2778H|FAT4_uc003ifi.1_Missense_Mutation_p.P2014H	p.P4537H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	13610	+			4537			Cytoplasmic (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13610C>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832644	0.50845	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.77750	-0.97;-1.12	5.02	4.15	0.48705	.	0.000000	0.32563	U	0.005925	T	0.73992	0.3658	L	0.58101	1.795	0.43959	D	0.996632	B;B;B	0.12013	0.005;0.003;0.005	B;B;B	0.12156	0.007;0.003;0.007	T	0.70357	-0.4894	10	0.48119	T	0.1	.	13.7149	0.62691	0.1551:0.8449:0.0:0.0	.	2778;4537;4536	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	H	4537;2778	ENSP00000377862:P4537H;ENSP00000335169:P2778H	ENSP00000335169:P2778H	P	+	2	0	FAT4	126631037	1.000000	0.71417	0.300000	0.25030	0.721000	0.41392	3.646000	0.54396	1.057000	0.40506	0.561000	0.74099	CCC		0.527	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		6	58	1	0	0.00116845	0.001168	0.00133104	6	58				
PCDH10	57575	broad.mit.edu	37	4	134071517	134071517	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:134071517C>T	ENST00000264360.5	+	1	1048	c.222C>T	c.(220-222)taC>taT	p.Y74Y	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	74	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y74*(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGGTGCTGTACGTGAACGAGA	0.547																																							uc003iha.2		NA																	1	Substitution - Nonsense(1)		kidney(1)	ovary(2)	2						c.(220-222)TAC>TAT		protocadherin 10 isoform 1 precursor							81.0	87.0	85.0					4																	134071517		2203	4300	6503	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071517C>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.222C>T	4.37:g.134071517C>T						uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.Y74Y	p.Y74Y	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1048	+			74			Cadherin 1.|Extracellular (Potential).		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.222C>T	CCDS34063.1																																																																																				0.547	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		6	92	0	0	0	0.001984	0	6	92				
DCHS2	54798	broad.mit.edu	37	4	155155846	155155846	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:155155846G>A	ENST00000357232.4	-	25	8592	c.8593C>T	c.(8593-8595)Ctg>Ttg	p.L2865L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2865					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCTTCTGGCAGAGAACCAAGA	0.527																																							uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(8593-8595)CTG>TTG		dachsous 2 isoform 1							137.0	132.0	134.0					4																	155155846		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155155846G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8593C>T	4.37:g.155155846G>A							p.L2865L	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	8593	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2865					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.8593C>T	CCDS3785.1																																																																																				0.527	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		4	88	0	0	0	0.000602	0	4	88				
TLL1	7092	broad.mit.edu	37	4	166924542	166924542	+	Splice_Site	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:166924542G>C	ENST00000061240.2	+	6	1279		c.e6-1		TLL1_ENST00000513213.1_Splice_Site|TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTTATTCCAGATGCTGCTCC	0.418																																							uc003irh.1		NA																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.e6-1		tolloid-like 1 precursor							96.0	88.0	90.0					4																	166924542		2203	4300	6503	SO:0001630	splice_region_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166924542G>C	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.633-1G>C	4.37:g.166924542G>C						TLL1_uc011cjn.1_Splice_Site_p.G211_splice|TLL1_uc011cjo.1_Splice_Site_p.G35_splice	p.G211_splice	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	6	1280	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)						B2RMU2|Q96AN3|Q9NQS4	Splice_Site	SNP	ENST00000061240.2	37	c.633_splice	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427554	0.62733	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0827	0.93188	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TLL1	167143992	1.000000	0.71417	0.996000	0.52242	0.503000	0.33858	9.813000	0.99286	2.576000	0.86940	0.557000	0.71058	.		0.418	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		Intron	7	52	0	0	0	0.004482	0	7	52				
SEMA5A	9037	broad.mit.edu	37	5	9190395	9190395	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:9190395G>A	ENST00000382496.5	-	11	1922	c.1257C>T	c.(1255-1257)atC>atT	p.I419I		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	419	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCAAATAGATGATGTGGACGA	0.498																																							uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1255-1257)ATC>ATT		semaphorin 5A precursor							63.0	57.0	59.0					5																	9190395		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9190395G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1257C>T	5.37:g.9190395G>A							p.I419I	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			11	1969	-			419			Sema.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.1257C>T	CCDS3875.1																																																																																				0.498	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			5	34	0	0	0	0.001168	0	5	34				
CDH12	1010	broad.mit.edu	37	5	21752319	21752319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:21752319G>A	ENST00000382254.1	-	15	2998	c.1912C>T	c.(1912-1914)Cga>Tga	p.R638*	CDH12_ENST00000522262.1_Nonsense_Mutation_p.R598*|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Nonsense_Mutation_p.R638*|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	638					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTCTGCCTTCGCAGTGCTACA	0.398										HNSCC(59;0.17)																													uc010iuc.2		NA																	0				ovary(2)	2						c.(1912-1914)CGA>TGA		cadherin 12, type 2 preproprotein							78.0	76.0	76.0					5																	21752319		2203	4300	6503	SO:0001587	stop_gained	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21752319G>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1912C>T	5.37:g.21752319G>A	ENSP00000371689:p.Arg638*	HNSCC(59;0.17)				CDH12_uc011cno.1_Nonsense_Mutation_p.R598*|CDH12_uc003jgk.2_Nonsense_Mutation_p.R638*|uc003jgj.2_Intron	p.R638*	NM_004061	NP_004052	P55289	CAD12_HUMAN			12	2370	-			638			Cytoplasmic (Potential).		B2RBT1|B7Z2U6|Q86UD2	Nonsense_Mutation	SNP	ENST00000382254.1	37	c.1912C>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	38	7.035683	0.98017	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	.	.	.	5.44	-3.69	0.04450	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	22.0773	0.99966	0.0:0.0:0.1604:0.8396	.	.	.	.	X	638;638;598	.	ENSP00000371689:R638X	R	-	1	2	CDH12	21788076	0.003000	0.15002	0.610000	0.28997	0.550000	0.35303	-0.179000	0.09768	-0.676000	0.05238	-0.467000	0.05162	CGA		0.398	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		9	48	0	0	0	0.000978	0	9	48				
HCN1	348980	broad.mit.edu	37	5	45262226	45262226	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:45262226C>T	ENST00000303230.4	-	8	2527	c.2470G>A	c.(2470-2472)Gga>Aga	p.G824R		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	824					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGCCCGTTCCGGGGACCGCC	0.677																																							uc003jok.2		NA																	0				ovary(1)	1						c.(2470-2472)GGA>AGA		hyperpolarization activated cyclic							28.0	31.0	30.0					5																	45262226		2203	4299	6502	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262226C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2470G>A	5.37:g.45262226C>T	ENSP00000307342:p.Gly824Arg						p.G824R	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2495	-			824			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.2470G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	8.812	0.935387	0.18206	.	.	ENSG00000164588	ENST00000303230	D	0.98732	-5.1	4.91	2.88	0.33553	.	0.404870	0.22732	N	0.056302	D	0.94742	0.8303	L	0.27053	0.805	0.28262	N	0.924803	P	0.38420	0.63	B	0.30716	0.119	D	0.90856	0.4735	10	0.72032	D	0.01	.	8.2311	0.31599	0.0:0.5901:0.0:0.4099	.	824	O60741	HCN1_HUMAN	R	824	ENSP00000307342:G824R	ENSP00000307342:G824R	G	-	1	0	HCN1	45297983	0.309000	0.24518	0.497000	0.27552	0.190000	0.23558	1.194000	0.32174	0.391000	0.25143	0.655000	0.94253	GGA		0.677	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		4	36	0	0	0	0.000602	0	4	36				
HCN1	348980	broad.mit.edu	37	5	45262359	45262359	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:45262359C>A	ENST00000303230.4	-	8	2394	c.2337G>T	c.(2335-2337)ctG>ctT	p.L779L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	779					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTCCCGGGTCAGGTTGGTGT	0.632																																							uc003jok.2		NA																	0				ovary(1)	1						c.(2335-2337)CTG>CTT		hyperpolarization activated cyclic							74.0	71.0	72.0					5																	45262359		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262359C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2337G>T	5.37:g.45262359C>A							p.L779L	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2362	-			779			Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.2337G>T	CCDS3952.1																																																																																				0.632	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		7	39	1	0	0.00307968	0.00308	0.00346341	7	39				
DMGDH	29958	broad.mit.edu	37	5	78324334	78324334	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:78324334C>T	ENST00000255189.3	-	12	1982	c.1954G>A	c.(1954-1956)Gat>Aat	p.D652N	DMGDH_ENST00000380311.4_Missense_Mutation_p.D451N|DMGDH_ENST00000540686.1_Missense_Mutation_p.D272N	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	652					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTGAAAACATCATCACTAAGA	0.393																																							uc003kfs.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(1954-1956)GAT>AAT		dimethylglycine dehydrogenase precursor							132.0	134.0	133.0					5																	78324334		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78324334C>T	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1954G>A	5.37:g.78324334C>T	ENSP00000255189:p.Asp652Asn					DMGDH_uc011cte.1_Missense_Mutation_p.D502N|DMGDH_uc011ctf.1_Missense_Mutation_p.D451N|DMGDH_uc011ctg.1_Missense_Mutation_p.D272N	p.D652N	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	12	1960	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	652					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.1954G>A	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465768	0.26335	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.92	5.06	0.68205	Glycine cleavage T-protein, N-terminal (1);	0.689474	0.15072	N	0.282169	T	0.68760	0.3036	L	0.52573	1.65	0.20196	N	0.999925	B;B;B;B	0.09022	0.001;0.001;0.002;0.0	B;B;B;B	0.11329	0.006;0.005;0.005;0.005	T	0.59537	-0.7436	10	0.42905	T	0.14	.	11.1977	0.48722	0.0:0.8603:0.0:0.1397	.	272;451;502;652	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	N	652;491;451;272;502	ENSP00000255189:D652N;ENSP00000430972:D491N;ENSP00000369667:D451N;ENSP00000439478:D272N	ENSP00000255189:D652N	D	-	1	0	DMGDH	78360090	0.000000	0.05858	0.047000	0.18901	0.694000	0.40290	0.317000	0.19487	1.521000	0.48983	0.655000	0.94253	GAT		0.393	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		11	84	0	0	0	0.008291	0	11	84				
ERAP1	51752	broad.mit.edu	37	5	96126056	96126056	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:96126056A>T	ENST00000443439.2	-	10	1533	c.1467T>A	c.(1465-1467)gaT>gaA	p.D489E	ERAP1_ENST00000296754.3_Missense_Mutation_p.D489E	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	489					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CTTTTACACCATCTGTAGGGC	0.363																																							uc003kmm.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1465-1467)GAT>GAA		type 1 tumor necrosis factor receptor shedding							134.0	128.0	130.0					5																	96126056		2203	4300	6503	SO:0001583	missense	51752				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding	g.chr5:96126056A>T	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.1467T>A	5.37:g.96126056A>T	ENSP00000406304:p.Asp489Glu					ERAP1_uc003kml.2_Missense_Mutation_p.D489E|ERAP1_uc010jbm.1_Missense_Mutation_p.D301E|ERAP1_uc003kmn.2_Missense_Mutation_p.D489E	p.D489E	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)	10	1814	-		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)	489			Lumenal (Potential).		O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	37	c.1467T>A	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	A	1.284	-0.609434	0.03690	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.07688	3.17;3.17	5.39	-0.0235	0.13943	.	0.690561	0.13378	N	0.392394	T	0.07279	0.0184	L	0.60455	1.87	0.09310	N	1	B;B;B	0.12013	0.0;0.003;0.005	B;B;B	0.16289	0.002;0.006;0.015	T	0.47195	-0.9136	10	0.12430	T	0.62	.	4.7768	0.13184	0.4809:0.0:0.2707:0.2484	.	489;489;489	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	E	489	ENSP00000296754:D489E;ENSP00000406304:D489E	ENSP00000296754:D489E	D	-	3	2	ERAP1	96151812	0.004000	0.15560	0.000000	0.03702	0.032000	0.12392	1.601000	0.36773	-0.543000	0.06240	-1.139000	0.01908	GAT		0.363	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		3	44	0	0	0	0.000602	0	3	44				
HARS	3035	broad.mit.edu	37	5	140070834	140070834	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:140070834C>G	ENST00000504156.1	-	1	775	c.56G>C	c.(55-57)cGa>cCa	p.R19P	HARS2_ENST00000437649.2_5'Flank|HARS2_ENST00000508522.1_5'Flank|HARS_ENST00000448240.1_5'UTR|HARS_ENST00000438307.2_Missense_Mutation_p.R19P|HARS_ENST00000307633.3_Missense_Mutation_p.R19P|HARS2_ENST00000448069.2_5'Flank|HARS_ENST00000431330.2_Missense_Mutation_p.R19P|HARS2_ENST00000432671.2_5'Flank|HARS2_ENST00000435019.2_5'Flank|HARS_ENST00000457527.2_Missense_Mutation_p.R19P|HARS2_ENST00000230771.3_5'Flank|HARS_ENST00000415192.2_Missense_Mutation_p.R19P	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	19	WHEP-TRS.				gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CTTGAGGCCTCGCACGCGCTC	0.647																																							uc003lgv.2		NA																	0				ovary(1)|skin(1)	2						c.(55-57)CGA>CCA		histidyl-tRNA synthetase	L-Histidine(DB00117)						41.0	35.0	37.0					5																	140070834		2203	4300	6503	SO:0001583	missense	3035				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	g.chr5:140070834C>G	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.56G>C	5.37:g.140070834C>G	ENSP00000425634:p.Arg19Pro					HARS_uc011czm.1_Missense_Mutation_p.R19P|HARS_uc003lgw.2_Missense_Mutation_p.R19P|HARS_uc011czn.1_Missense_Mutation_p.R19P|HARS_uc010jfu.2_Missense_Mutation_p.R19P|HARS_uc011czo.1_Missense_Mutation_p.R19P|HARS_uc011czp.1_Missense_Mutation_p.R19P|HARS_uc011czq.1_Missense_Mutation_p.R19P|HARS2_uc010jfv.1_5'Flank|HARS2_uc003lgx.2_5'Flank|HARS2_uc011czr.1_5'Flank|HARS2_uc011czs.1_5'Flank|HARS2_uc011czt.1_5'Flank	p.R19P	NM_002109	NP_002100	P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	138	-			19			WHEP-TRS.		B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	37	c.56G>C	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.982288	0.74474	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000307633;ENST00000438307;ENST00000415192;ENST00000507746	T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.65	4.77	0.60923	WHEP-TRS (3);S15/NS1, RNA-binding (2);	0.060448	0.64402	D	0.000002	D	0.87577	0.6212	M	0.87827	2.91	0.80722	D	1	D;P;P;D;D;D;D;D	0.89917	1.0;0.956;0.956;0.996;0.984;0.998;0.975;0.97	D;P;P;D;P;D;P;P	0.85130	0.997;0.783;0.783;0.944;0.8;0.983;0.856;0.727	D	0.89989	0.4106	10	0.87932	D	0	-2.9938	14.9538	0.71094	0.1441:0.8559:0.0:0.0	.	19;19;19;19;19;19;19;19	B4DEA2;B4E1C5;B4DDD8;B4DHQ1;B4DY73;Q52NV4;D6REN6;P12081	.;.;.;.;.;.;.;SYHC_HUMAN	P	19	ENSP00000425634:R19P;ENSP00000387893:R19P;ENSP00000393244:R19P;ENSP00000304668:R19P;ENSP00000411511:R19P;ENSP00000411085:R19P;ENSP00000425889:R19P	ENSP00000304668:R19P	R	-	2	0	HARS	140051018	0.994000	0.37717	0.971000	0.41717	0.759000	0.43091	3.452000	0.52971	1.602000	0.50124	0.655000	0.94253	CGA		0.647	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		3	23	0	0	0	0.004672	0	3	23				
PCDHA12	56137	broad.mit.edu	37	5	140255829	140255829	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:140255829G>A	ENST00000398631.2	+	1	772	c.772G>A	c.(772-774)Gac>Aac	p.D258N	PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	258	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCAAAACGACACAAGAGT	0.418																																					Pancreas(113;759 1672 13322 24104 50104)	Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NA																	0					0						c.(772-774)GAC>AAC		protocadherin alpha 12 isoform 1 precursor							111.0	111.0	111.0					5																	140255829		1882	4107	5989	SO:0001583	missense	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140255829G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.772G>A	5.37:g.140255829G>A	ENSP00000381628:p.Asp258Asn					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.D258N	p.D258N	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	899	+			258			Cadherin 3.|Extracellular (Potential).		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.772G>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774625	0.49786	.	.	ENSG00000251664	ENST00000398631	T	0.60920	0.15	4.85	0.852	0.18995	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.39860	0.1094	N	0.05031	-0.125	0.09310	N	1	B;P	0.45126	0.195;0.851	B;P	0.49085	0.033;0.6	T	0.25467	-1.0131	9	0.72032	D	0.01	.	4.152	0.10242	0.1448:0.1202:0.5996:0.1353	.	258;258	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	N	258	ENSP00000381628:D258N	ENSP00000381628:D258N	D	+	1	0	PCDHA12	140236013	0.105000	0.21958	0.004000	0.12327	0.869000	0.49853	1.752000	0.38349	-0.154000	0.11118	0.591000	0.81541	GAC		0.418	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		12	71	0	0	0	0.000978	0	12	71				
NIPAL4	348938	broad.mit.edu	37	5	156890126	156890126	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:156890126C>A	ENST00000311946.7	+	2	364	c.248C>A	c.(247-249)tCc>tAc	p.S83Y	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.S83Y|NIPAL4_ENST00000521390.1_3'UTR	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	83						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CTCTACTGCTCCTCCCAAGAA	0.512																																							uc003lwx.3		NA																	0					0						c.(247-249)TCC>TAC		ichthyin protein							113.0	112.0	112.0					5																	156890126		2018	4175	6193	SO:0001583	missense	348938					integral to membrane	receptor activity	g.chr5:156890126C>A	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.248C>A	5.37:g.156890126C>A	ENSP00000311687:p.Ser83Tyr					ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.S83Y|NIPAL4_uc010jin.1_Missense_Mutation_p.P18T	p.S83Y	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN			2	364	+			83			Extracellular (Potential).		A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	c.248C>A	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671716	0.29693	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.91295	-2.82;-2.78	5.12	4.21	0.49690	.	0.347770	0.30649	N	0.009173	T	0.81931	0.4927	N	0.19112	0.55	0.33874	D	0.635256	B;B	0.25743	0.133;0.006	B;B	0.25759	0.063;0.007	T	0.82963	-0.0196	10	0.45353	T	0.12	-24.8091	8.9881	0.36005	0.1482:0.7672:0.0:0.0845	.	83;83	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	Y	83	ENSP00000406456:S83Y;ENSP00000311687:S83Y	ENSP00000311687:S83Y	S	+	2	0	NIPAL4	156822704	0.778000	0.28640	1.000000	0.80357	0.879000	0.50718	3.143000	0.50608	2.369000	0.80426	0.561000	0.74099	TCC		0.512	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		9	78	1	0	1.58986e-06	0.008291	1.99869e-06	9	78				
NPM1	4869	broad.mit.edu	37	5	170834751	170834751	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:170834751G>C	ENST00000296930.5	+	10	1120	c.819G>C	c.(817-819)aaG>aaC	p.K273N	NPM1_ENST00000517671.1_Missense_Mutation_p.K273N|NPM1_ENST00000351986.6_Missense_Mutation_p.K244N	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	273	Required for nucleolar localization.				cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATTATGTGAAGAATTGCTTCC	0.373			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																		uc011dex.1		NA		Dom	yes		5	5q35	4869	T|F 	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""			L	ALK|RARA|MLF1		NHL|APL|AML	NPM1/ALK(632)	0				haematopoietic_and_lymphoid_tissue(3109)|skin(1)	3110						c.(817-819)AAG>AAC		nucleophosmin 1 isoform 1							106.0	106.0	106.0					5																	170834751		2203	4300	6503	SO:0001583	missense	4869				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	g.chr5:170834751G>C	M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.819G>C	5.37:g.170834751G>C	ENSP00000296930:p.Lys273Asn					NPM1_uc003mbi.2_Missense_Mutation_p.K273N|NPM1_uc003mbj.2_Missense_Mutation_p.K244N	p.K273N	NM_002520	NP_002511	P06748	NPM_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		11	954	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	273			Required for nucleolar localization.		A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Missense_Mutation	SNP	ENST00000296930.5	37	c.819G>C	CCDS4376.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575081	0.45902	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000351986	T;T;T	0.60299	0.2;0.2;0.25	4.87	4.87	0.63330	.	0.119337	0.56097	U	0.000039	T	0.52484	0.1737	L	0.56396	1.775	0.80722	D	1	P;B	0.34780	0.468;0.343	B;B	0.34242	0.178;0.167	T	0.57665	-0.7772	10	0.56958	D	0.05	.	10.804	0.46507	0.089:0.0:0.911:0.0	.	244;273	P06748-2;P06748	.;NPM_HUMAN	N	273;273;244	ENSP00000428755:K273N;ENSP00000296930:K273N;ENSP00000341168:K244N	ENSP00000296930:K273N	K	+	3	2	NPM1	170767356	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.373000	0.52394	2.404000	0.81709	0.655000	0.94253	AAG		0.373	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252858.2	NM_002520		8	34	0	0	0	0.004482	0	8	34				
HIST1H3C	8352	broad.mit.edu	37	6	26045730	26045730	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:26045730C>T	ENST00000540144.1	+	1	92	c.92C>T	c.(91-93)cCg>cTg	p.P31L	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	31					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						AAGAGCGCTCCGGCCACCGGT	0.612																																							uc003nfv.2		NA																	0				ovary(1)	1						c.(91-93)CCG>CTG		histone cluster 1, H3c							39.0	42.0	41.0					6																	26045730		2203	4300	6503	SO:0001583	missense	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26045730C>T	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.92C>T	6.37:g.26045730C>T	ENSP00000439493:p.Pro31Leu					HIST1H2BB_uc003nfu.2_5'Flank	p.P31L	NM_003531	NP_003522	P68431	H31_HUMAN			1	92	+			31					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	c.92C>T	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358048	0.41801	.	.	ENSG00000196532	ENST00000540144	T	0.42900	0.96	4.67	4.67	0.58626	.	.	.	.	.	T	0.55000	0.1893	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.60885	-0.7174	6	0.87932	D	0	.	17.4292	0.87534	0.0:1.0:0.0:0.0	.	.	.	.	L	31	ENSP00000439493:P31L	ENSP00000439493:P31L	P	+	2	0	HIST1H3C	26153709	1.000000	0.71417	0.998000	0.56505	0.482000	0.33219	7.712000	0.84684	2.529000	0.85273	0.591000	0.81541	CCG		0.612	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		7	72	0	0	0	0.001984	0	7	72				
BTN3A1	11119	broad.mit.edu	37	6	26410240	26410240	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:26410240G>C	ENST00000289361.6	+	7	1312	c.944G>C	c.(943-945)aGa>aCa	p.R315T	BTN3A1_ENST00000414912.2_Missense_Mutation_p.R263T|BTN3A1_ENST00000425234.2_Missense_Mutation_p.R315T|BTN3A1_ENST00000476549.2_Missense_Mutation_p.R315T	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	315					activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GCAGGATGGAGAAGTATCCAG	0.463																																							uc003nhv.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(943-945)AGA>ACA		butyrophilin, subfamily 3, member A1 isoform a							223.0	201.0	209.0					6																	26410240		2203	4300	6503	SO:0001583	missense	11119				lipid metabolic process	integral to membrane		g.chr6:26410240G>C	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.944G>C	6.37:g.26410240G>C	ENSP00000289361:p.Arg315Thr					BTN3A1_uc011dkj.1_Missense_Mutation_p.R315T|BTN3A1_uc011dkk.1_Missense_Mutation_p.R263T|BTN3A1_uc010jqj.2_Missense_Mutation_p.R315T	p.R315T	NM_007048	NP_008979	O00481	BT3A1_HUMAN			7	1312	+			315			Cytoplasmic (Potential).		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	c.944G>C	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	5.358	0.251368	0.10130	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234;ENST00000414912	T;T;T;T	0.49139	3.92;1.16;3.78;0.79	1.34	0.438	0.16560	.	.	.	.	.	T	0.21186	0.0510	M	0.71206	2.165	0.09310	N	1	B;B;B;B	0.24823	0.011;0.112;0.112;0.038	B;B;B;B	0.17722	0.004;0.019;0.019;0.006	T	0.26258	-1.0108	9	0.49607	T	0.09	.	3.6274	0.08119	0.2588:0.0:0.7412:0.0	.	263;315;315;315	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	T	315;315;315;263	ENSP00000420010:R315T;ENSP00000289361:R315T;ENSP00000396684:R315T;ENSP00000406667:R263T	ENSP00000289361:R315T	R	+	2	0	BTN3A1	26518219	0.069000	0.21087	0.117000	0.21633	0.059000	0.15707	-0.820000	0.04457	0.128000	0.18479	0.603000	0.83216	AGA		0.463	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			6	177	0	0	0	0.001168	0	6	177				
VARS2	57176	broad.mit.edu	37	6	30891283	30891283	+	Splice_Site	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:30891283G>C	ENST00000321897.5	+	24	3098		c.e24+1		VARS2_ENST00000541562.1_Splice_Site|VARS2_ENST00000416670.2_Splice_Site|VARS2_ENST00000542001.1_Splice_Site|VARS2_ENST00000476162.1_Splice_Site			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CGTCTACCTGGTGAGTGAGGC	0.547																																							uc003nsc.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.e24+1		valyl-tRNA synthetase 2, mitochondrial							71.0	73.0	72.0					6																	30891283		1510	2707	4217	SO:0001630	splice_region_variant	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30891283G>C	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2466+1G>C	6.37:g.30891283G>C						VARS2_uc011dmx.1_Splice_Site_p.L822_splice|VARS2_uc011dmy.1_Splice_Site_p.L682_splice|VARS2_uc011dmz.1_Splice_Site_p.L852_splice|VARS2_uc011dna.1_Splice_Site_p.L820_splice|VARS2_uc011dnb.1_Splice_Site|VARS2_uc011dnc.1_Splice_Site|VARS2_uc011dnd.1_Splice_Site_p.L260_splice|VARS2_uc010jsg.1_Splice_Site_p.L194_splice|VARS2_uc010jsh.1_5'UTR	p.L822_splice	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN			24	3098	+								A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Splice_Site	SNP	ENST00000321897.5	37	c.2466_splice	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	g	19.54	3.847444	0.71603	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9538	0.86252	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VARS2	30999262	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	8.811000	0.91954	2.683000	0.91414	0.558000	0.71614	.		0.547	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442	Intron	9	66	0	0	0	0.008291	0	9	66				
CYP21A1P	1590	broad.mit.edu	37	6	31975113	31975113	+	5'Flank	SNP	G	G	C	rs62402680	byFrequency	TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:31975113G>C	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							GCGCAGCCGAGCATGGAAGAG	0.627													G|||	1072	0.214058	0.3593	0.1671	5008	,	,		16916	0.1032		0.1481	False		,,,				2504	0.2331					Melanoma(174;1669 1998 3915 34700 46447)	uc010jtp.2		NA																	0					0						c.(805-807)AGC>ACC		SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA;																																				SO:0001631	upstream_gene_variant	1589				glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	g.chr6:31975113G>C																													6.37:g.31975113G>C	Exception_encountered					CYP21A2_uc011dpb.1_Missense_Mutation_p.S239T	p.S269T			P08686	CP21A_HUMAN			8	924	+			268	S->C,M,T: No loss of function.					Missense_Mutation	SNP	ENST00000594256.1	37	c.806G>C																																																																																					0.627	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				3	86	0	0	0	0.000248	0	3	86				
SYNGAP1	8831	broad.mit.edu	37	6	33406331	33406331	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:33406331G>C	ENST00000418600.2	+	9	1623	c.1522G>C	c.(1522-1524)Gat>Cat	p.D508H	MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.D449H|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.D508H	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	508	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						ATACCTCAAGGATGCCATTGG	0.522																																							uc011dri.1		NA																	0				ovary(4)	4						c.(1522-1524)GAT>CAT		synaptic Ras GTPase activating protein 1							141.0	132.0	135.0					6																	33406331		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33406331G>C	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1522G>C	6.37:g.33406331G>C	ENSP00000403636:p.Asp508His					SYNGAP1_uc003oeo.1_Missense_Mutation_p.D493H|SYNGAP1_uc010juy.2_Missense_Mutation_p.D493H|SYNGAP1_uc010juz.2_Missense_Mutation_p.D220H	p.D508H	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			9	1717	+			508			Ras-GAP.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.1522G>C	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859709	0.71834	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.19806	2.12;2.12;2.12	4.82	4.82	0.62117	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.28665	0.0710	L	0.48642	1.525	0.80722	D	1	D;D;D;B	0.76494	0.999;0.999;0.999;0.306	D;P;P;B	0.63877	0.919;0.869;0.869;0.341	T	0.02244	-1.1189	10	0.87932	D	0	.	15.445	0.75223	0.0:0.0:1.0:0.0	.	508;508;508;508	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	H	508;508;508;449	ENSP00000293748:D508H;ENSP00000403636:D508H;ENSP00000412475:D449H	ENSP00000293748:D508H	D	+	1	0	SYNGAP1	33514309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.494000	0.84150	0.650000	0.86243	GAT		0.522	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		5	120	0	0	0	0.000602	0	5	120				
PPARD	5467	broad.mit.edu	37	6	35388010	35388010	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:35388010C>G	ENST00000311565.4	+	5	586	c.237C>G	c.(235-237)gaC>gaG	p.D79E	PPARD_ENST00000360694.3_Missense_Mutation_p.D79E|PPARD_ENST00000337400.2_Missense_Mutation_p.D79E|PPARD_ENST00000540939.1_Intron|PPARD_ENST00000448077.2_Missense_Mutation_p.D40E|PPARD_ENST00000444397.1_Missense_Mutation_p.D79E|PPARD_ENST00000418635.2_Intron	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	79				D -> G (in Ref. 5; BAF84350). {ECO:0000305}.	adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TGTGCGGGGACAAGGCATCGG	0.652																																							uc003okm.2		NA																	0				ovary(1)	1						c.(235-237)GAC>GAG		peroxisome proliferative activated receptor,	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						89.0	73.0	78.0					6																	35388010		2203	4300	6503	SO:0001583	missense	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35388010C>G	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.237C>G	6.37:g.35388010C>G	ENSP00000310928:p.Asp79Glu					PPARD_uc003okl.2_Missense_Mutation_p.D79E|PPARD_uc003okn.2_Missense_Mutation_p.D79E|PPARD_uc011dtb.1_Missense_Mutation_p.D40E|PPARD_uc011dtc.1_Intron|PPARD_uc010jvv.1_Intron	p.D79E	NM_006238	NP_006229	Q03181	PPARD_HUMAN			4	546	+			79	D -> G (in Ref. 5; BAF84350).		Nuclear receptor.|NR C4-type.		A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	c.237C>G	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161238	0.94727	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000444397;ENST00000311565;ENST00000337400	D;D;D;D;D	0.98135	-4.74;-4.74;-4.74;-4.74;-4.74	5.15	5.15	0.70609	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.093845	0.64402	D	0.000001	D	0.98682	0.9558	M	0.83312	2.635	0.80722	D	1	D;P;P	0.54964	0.969;0.768;0.942	P;B;D	0.67900	0.715;0.401;0.954	D	0.99734	1.1013	10	0.87932	D	0	.	18.8273	0.92123	0.0:1.0:0.0:0.0	.	40;79;79	B7Z3W1;Q03181;F1D8S7	.;PPARD_HUMAN;.	E	40;79;79;79;79	ENSP00000414372:D40E;ENSP00000353916:D79E;ENSP00000410837:D79E;ENSP00000310928:D79E;ENSP00000337063:D79E	ENSP00000310928:D79E	D	+	3	2	PPARD	35495988	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.539000	0.45718	2.681000	0.91329	0.650000	0.86243	GAC		0.652	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		5	59	0	0	0	0.000602	0	5	59				
PTCHD4	442213	broad.mit.edu	37	6	47847083	47847083	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:47847083C>A	ENST00000339488.4	-	3	1530	c.1497G>T	c.(1495-1497)tcG>tcT	p.S499S		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	499						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										AAACACTTGGCGAATCACTGG	0.453																																							uc011dwm.1		NA																	0				central_nervous_system(1)	1						c.(1444-1446)TCG>TCT		hypothetical protein LOC442213							71.0	64.0	67.0					6																	47847083		2203	4300	6503	SO:0001819	synonymous_variant	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847083C>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1497G>T	6.37:g.47847083C>A						C6orf138_uc011dwn.1_Silent_p.S246S	p.S482S	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			3	1531	-			499					B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	37	c.1446G>T	CCDS34473.2																																																																																				0.453	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		18	23	1	0	0.00074312	0.006122	0.000854831	18	23				
IL17A	3605	broad.mit.edu	37	6	52052547	52052547	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:52052547C>T	ENST00000340057.1	+	2	219	c.174C>T	c.(172-174)acC>acT	p.T58T		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	58					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					ATACCAATACCAATCCCAAAA	0.453																																							uc003pak.1		NA																	0					0						c.(172-174)ACC>ACT		interleukin 17A precursor							167.0	148.0	154.0					6																	52052547		2203	4300	6503	SO:0001819	synonymous_variant	3605				apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	g.chr6:52052547C>T	U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.174C>T	6.37:g.52052547C>T							p.T58T	NM_002190	NP_002181	Q16552	IL17_HUMAN			2	219	+	Lung NSC(77;0.116)		58					Q5T2P0	Silent	SNP	ENST00000340057.1	37	c.174C>T	CCDS4937.1																																																																																				0.453	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040892.1	NM_002190		17	141	0	0	0	0.004007	0	17	141				
DST	667	broad.mit.edu	37	6	56458704	56458704	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:56458704C>A	ENST00000361203.3	-	44	11857	c.11850G>T	c.(11848-11850)gaG>gaT	p.E3950D	DST_ENST00000370788.2_Missense_Mutation_p.E1864D|DST_ENST00000370769.4_Missense_Mutation_p.E3952D|DST_ENST00000370754.5_Missense_Mutation_p.E4130D|DST_ENST00000446842.2_Missense_Mutation_p.E3626D|DST_ENST00000244364.6_Missense_Mutation_p.E1538D|DST_ENST00000421834.2_Missense_Mutation_p.E1864D|DST_ENST00000312431.6_Missense_Mutation_p.E3950D			Q03001	DYST_HUMAN	dystonin	3950					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGCACCTGCCTCCAGGTTTT	0.413																																							uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(6124-6126)GAG>GAT		dystonin isoform 2							121.0	119.0	120.0					6																	56458704		1941	4143	6084	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56458704C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11850G>T	6.37:g.56458704C>A	ENSP00000354508:p.Glu3950Asp					DST_uc003pcz.3_Missense_Mutation_p.E1864D|DST_uc011dxj.1_Missense_Mutation_p.E1893D|DST_uc011dxk.1_Missense_Mutation_p.E1904D|DST_uc003pcy.3_Missense_Mutation_p.E1538D|DST_uc010kaa.1_RNA	p.E2042D	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		42	6154	-	Lung NSC(77;0.103)		3950			Spectrin 2.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.6126G>T		.	.	.	.	.	.	.	.	.	.	C	13.01	2.108905	0.37242	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.55	-0.629	0.11533	.	0.000000	0.56097	D	0.000037	T	0.18173	0.0436	M	0.72118	2.19	0.25670	N	0.985909	P;P;P;B;B	0.39576	0.679;0.65;0.65;0.071;0.209	B;B;B;B;B	0.43331	0.416;0.411;0.411;0.062;0.185	T	0.07578	-1.0765	9	0.30854	T	0.27	.	10.2364	0.43286	0.0:0.5178:0.0:0.4822	.	1864;3952;4130;3950;1538	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	D	1538;4130;3952;1864;3626;3950;1864;3950	ENSP00000244364:E1538D;ENSP00000359790:E4130D;ENSP00000359805:E3952D;ENSP00000400883:E1864D;ENSP00000393645:E3626D;ENSP00000307959:E3950D;ENSP00000359824:E1864D;ENSP00000354508:E3950D	ENSP00000244364:E1538D	E	-	3	2	DST	56566663	0.242000	0.23868	0.896000	0.35187	0.945000	0.59286	-0.453000	0.06778	-0.113000	0.11958	0.650000	0.86243	GAG		0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		13	116	1	0	0.00136819	0.001368	0.00155356	13	116				
SNX8	29886	broad.mit.edu	37	7	2289541	2289541	+	IGR	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:2289541G>A	ENST00000222990.3	-	0	4727				NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000397046.1_Missense_Mutation_p.G68S|NUDT1_ENST00000397049.1_Missense_Mutation_p.G91S|NUDT1_ENST00000356714.1_Missense_Mutation_p.G68S|NUDT1_ENST00000343985.4_Missense_Mutation_p.G91S|NUDT1_ENST00000397048.1_Missense_Mutation_p.G91S|NUDT1_ENST00000339737.2_Missense_Mutation_p.G68S	NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8						early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GCACAAGGTGGGCCAGATCGT	0.652																																							uc003slp.1		NA																	0					0						c.(271-273)GGC>AGC	Direct_reversal_of_damage|Modulation_of_nucleotide_pools	nudix-type motif 1 isoform p22							263.0	193.0	216.0					7																	2289541		2203	4300	6503	SO:0001628	intergenic_variant	4521				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding	g.chr7:2289541G>A	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512		7.37:g.2289541G>A						NUDT1_uc003slq.1_Missense_Mutation_p.G68S|NUDT1_uc003slr.1_Missense_Mutation_p.G68S|NUDT1_uc003sls.1_Missense_Mutation_p.G91S|NUDT1_uc003slt.1_Missense_Mutation_p.G68S|NUDT1_uc003slu.1_Missense_Mutation_p.G91S|NUDT1_uc003slv.1_Missense_Mutation_p.G68S	p.G91S	NM_198949	NP_945187	P36639	8ODP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)	4	373	+		Ovarian(82;0.0253)|Melanoma(862;0.155)	109			Nudix hydrolase.		A4D207|Q96I67	Missense_Mutation	SNP	ENST00000222990.3	37	c.271G>A	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150277	0.78001	.	.	ENSG00000106268	ENST00000356714;ENST00000397049;ENST00000397046;ENST00000397048;ENST00000343985;ENST00000339737	T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21	5.41	5.41	0.78517	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.049441	0.85682	D	0.000000	T	0.65004	0.2650	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69480	-0.5134	10	0.87932	D	0	-19.8611	19.1863	0.93645	0.0:0.0:1.0:0.0	.	109	P36639	8ODP_HUMAN	S	68;91;68;91;91;68	ENSP00000349148:G68S;ENSP00000380242:G91S;ENSP00000380239:G68S;ENSP00000380241:G91S;ENSP00000339503:G91S;ENSP00000343439:G68S	ENSP00000343439:G68S	G	+	1	0	NUDT1	2256067	1.000000	0.71417	0.996000	0.52242	0.046000	0.14306	8.570000	0.90748	2.521000	0.84997	0.561000	0.74099	GGC		0.652	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			14	86	0	0	0	0.003163	0	14	86				
CARD11	84433	broad.mit.edu	37	7	2984046	2984046	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:2984046C>T	ENST00000396946.4	-	5	887	c.484G>A	c.(484-486)Gag>Aag	p.E162K	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	162					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGCTTCTTCTCATCCTCCAGC	0.577			Mis		DLBCL																																		uc003smv.2		NA		Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(484-486)GAG>AAG		caspase recruitment domain family, member 11							122.0	95.0	104.0					7																	2984046		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2984046C>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.484G>A	7.37:g.2984046C>T	ENSP00000380150:p.Glu162Lys						p.E162K	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	888	-		Ovarian(82;0.0115)	162			Potential.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.484G>A	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	35	5.559387	0.96514	.	.	ENSG00000198286	ENST00000396946	T	0.35048	1.33	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	L	0.50333	1.59	0.80722	D	1	P	0.45283	0.855	P	0.51355	0.667	T	0.47182	-0.9137	10	0.49607	T	0.09	-23.3507	17.3242	0.87243	0.0:1.0:0.0:0.0	.	162	Q9BXL7	CAR11_HUMAN	K	162	ENSP00000380150:E162K	ENSP00000380150:E162K	E	-	1	0	CARD11	2950572	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.279000	0.78599	2.153000	0.67306	0.655000	0.94253	GAG		0.577	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		8	112	0	0	0	0.006214	0	8	112				
FKBP14	55033	broad.mit.edu	37	7	30058645	30058645	+	Silent	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:30058645A>G	ENST00000222803.5	-	3	619	c.444T>C	c.(442-444)gaT>gaC	p.D148D	AC007285.6_ENST00000422239.1_RNA|AC007285.6_ENST00000419103.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	148	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|large_intestine(2)|lung(2)	5						CATCATTAAGATCCATTTCTT	0.378																																							uc003tal.1		NA																	0					0						c.(442-444)GAT>GAC		FK506 binding protein 14 precursor							119.0	116.0	117.0					7																	30058645		2203	4300	6503	SO:0001819	synonymous_variant	55033				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:30058645A>G	AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"""EF-hand domain containing"""	18625	protein-coding gene	gene with protein product		614505	"""FK506 binding protein 14 (22 kDa)"""			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.444T>C	7.37:g.30058645A>G						FKBP14_uc010kvq.1_RNA	p.D148D	NM_017946	NP_060416	Q9NWM8	FKB14_HUMAN			3	588	-			148			EF-hand 1.|1 (Potential).			Silent	SNP	ENST00000222803.5	37	c.444T>C	CCDS5423.1																																																																																				0.378	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946		8	53	0	0	0	0.004482	0	8	53				
FAM188B	84182	broad.mit.edu	37	7	30915236	30915236	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:30915236T>G	ENST00000265299.6	+	15	2013	c.1936T>G	c.(1936-1938)Ttc>Gtc	p.F646V	AQP1_ENST00000509504.1_Missense_Mutation_p.F109V|AQP1_ENST00000434909.2_5'UTR|INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	646										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGATATTGGCTTCTTATCTCT	0.498																																							uc003tbt.2		NA																	0					0						c.(1936-1938)TTC>GTC		hypothetical protein LOC84182							204.0	206.0	206.0					7																	30915236		2035	4209	6244	SO:0001583	missense	84182							g.chr7:30915236T>G	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1936T>G	7.37:g.30915236T>G	ENSP00000265299:p.Phe646Val					FAM188B_uc010kwe.2_Missense_Mutation_p.F617V|AQP1_uc011kac.1_5'UTR|FAM188B_uc003tbu.2_Missense_Mutation_p.F166V	p.F646V	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			15	2013	+			646					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.1936T>G	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	T	19.49	3.836618	0.71373	.	.	ENSG00000106125;ENSG00000106125;ENSG00000250424	ENST00000265299;ENST00000409881;ENST00000509504	T;T	0.36699	1.24;1.24	5.67	4.54	0.55810	.	0.146688	0.49916	D	0.000127	T	0.52306	0.1726	M	0.87682	2.9	0.80722	D	1	P;P	0.51791	0.93;0.948	P;P	0.53102	0.625;0.718	T	0.59936	-0.7360	10	0.87932	D	0	-27.354	7.1241	0.25461	0.0:0.1306:0.0:0.8694	.	166;646	B8ZZX1;Q4G0A6	.;F188B_HUMAN	V	646;166;109	ENSP00000265299:F646V;ENSP00000421315:F109V	ENSP00000265299:F646V	F	+	1	0	RP5-877J2.1;FAM188B	30881761	0.999000	0.42202	1.000000	0.80357	0.954000	0.61252	2.265000	0.43311	2.179000	0.69175	0.528000	0.53228	TTC		0.498	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		22	105	0	0	0	0.00278	0	22	105				
NT5C3A	51251	broad.mit.edu	37	7	33057183	33057183	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:33057183G>A	ENST00000242210.7	-	7	652	c.576C>T	c.(574-576)ctC>ctT	p.L192L	NT5C3A_ENST00000409787.1_Silent_p.L153L|NT5C3A_ENST00000381626.2_Silent_p.L141L|NT5C3A_ENST00000610140.1_Silent_p.L187L|NT5C3A_ENST00000396152.2_Silent_p.L153L|NT5C3A_ENST00000405342.1_Silent_p.L153L|NT5C3A_ENST00000409467.1_Silent_p.L141L|AVL9_ENST00000404479.1_Intron	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	192					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										TATGTTGTTGGAGCTTATCAA	0.373																																							uc003tdk.2		NA																	0		p.L192H(1)		ovary(1)	1						c.(574-576)CTC>CTT		5'-nucleotidase, cytosolic III isoform 1							144.0	139.0	140.0					7																	33057183		2203	4300	6503	SO:0001819	synonymous_variant	51251				nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr7:33057183G>A	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.576C>T	7.37:g.33057183G>A						AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Silent_p.L153L|NT5C3_uc003tdj.2_Silent_p.L153L	p.L192L	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		7	653	-			192					A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Silent	SNP	ENST00000242210.7	37	c.576C>T	CCDS34616.1																																																																																				0.373	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489		35	42	0	0	0	0.004878	0	35	42				
NPSR1	387129	broad.mit.edu	37	7	34867158	34867159	+	Missense_Mutation	DNP	CC	CC	AA	rs368352815		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:34867158_34867159CC>AA	ENST00000360581.1	+	5	752_753	c.624_625CC>AA	c.(622-627)acCCca>acAAca	p.P209T	NPSR1_ENST00000531252.1_Missense_Mutation_p.P198T|NPSR1_ENST00000381539.3_Missense_Mutation_p.P209T|NPSR1_ENST00000359791.1_Missense_Mutation_p.P209T|NPSR1_ENST00000381542.1_Missense_Mutation_p.P143T	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	209						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCTACTGGACCCCATACATGAC	0.574																																							uc003teg.1		NA																	0				skin(3)|pancreas(1)	4						c.(622-627)ACCCCA>ACAACA		G protein-coupled receptor for asthma	Halothane(DB01159)																																			SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34867158_34867159CC>AA	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	Exception_encountered	7.37:g.34867158_34867159delinsAA	ENSP00000353788:p.Pro209Thr					AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.P209T|NPSR1_uc010kwt.1_Missense_Mutation_p.P56T|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.P143T|NPSR1_uc003tei.1_Missense_Mutation_p.P209T|NPSR1_uc010kww.1_Missense_Mutation_p.P198T|NPSR1_uc011kar.1_Missense_Mutation_p.P143T|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron	p.P209T	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN			5	752_753	+			209			Extracellular (Potential).		A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	DNP	ENST00000360581.1	37	c.624_625CC>AA	CCDS5444.1																																																																																				0.574	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		11	130	0	0	0	0.004672	0	11	130				
CALN1	83698	broad.mit.edu	37	7	71252772	71252772	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:71252772G>T	ENST00000329008.5	-	6	946	c.648C>A	c.(646-648)agC>agA	p.S216R	CALN1_ENST00000395275.2_Missense_Mutation_p.S258R|CALN1_ENST00000395276.2_Missense_Mutation_p.S216R|CALN1_ENST00000431984.1_Missense_Mutation_p.S216R|CALN1_ENST00000412588.1_Missense_Mutation_p.S258R|CALN1_ENST00000405452.2_Missense_Mutation_p.S216R	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ACTCCATGCCGCTCCGGAGTA	0.587																																							uc003twa.3		NA																	0				skin(1)	1						c.(646-648)AGC>AGA		calneuron 1 isoform 2							77.0	62.0	67.0					7																	71252772		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71252772G>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.648C>A	7.37:g.71252772G>T	ENSP00000332498:p.Ser216Arg					CALN1_uc003twb.3_Missense_Mutation_p.S258R|CALN1_uc003twc.3_Missense_Mutation_p.S216R	p.S216R	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			6	1175	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	216			Extracellular (Potential).		J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.648C>A	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	G	6.465	0.453963	0.12283	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.71817	-0.48;-0.6;-0.48;-0.48;-0.6;-0.48	4.99	1.14	0.20703	.	0.046101	0.85682	D	0.000000	T	0.50463	0.1617	N	0.14661	0.345	0.41280	D	0.9869	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.27971	-1.0058	10	0.49607	T	0.09	-11.3881	10.2961	0.43625	0.3644:0.0:0.6356:0.0	.	216;216	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	R	216;258;216;216;258;216	ENSP00000332498:S216R;ENSP00000378690:S258R;ENSP00000378691:S216R;ENSP00000410704:S216R;ENSP00000391882:S258R;ENSP00000384354:S216R	ENSP00000332498:S216R	S	-	3	2	CALN1	70890708	1.000000	0.71417	0.992000	0.48379	0.259000	0.26198	1.177000	0.31969	-0.315000	0.08703	-1.598000	0.00824	AGC		0.587	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		9	24	1	0	0.000442599	0.006214	0.000515877	9	24				
HGF	3082	broad.mit.edu	37	7	81372711	81372711	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:81372711C>A	ENST00000222390.5	-	7	1049	c.823G>T	c.(823-825)Gac>Tac	p.D275Y	HGF_ENST00000453411.1_Missense_Mutation_p.D270Y|HGF_ENST00000457544.2_Missense_Mutation_p.D270Y|HGF_ENST00000444829.2_Missense_Mutation_p.D275Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	275	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GTGTGAGGGTCAAGAGTATAG	0.478																																							uc003uhl.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(823-825)GAC>TAC		hepatocyte growth factor isoform 1							104.0	92.0	96.0					7																	81372711		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81372711C>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.823G>T	7.37:g.81372711C>A	ENSP00000222390:p.Asp275Tyr					HGF_uc003uhm.2_Missense_Mutation_p.D270Y|HGF_uc003uhn.1_Missense_Mutation_p.D275Y|HGF_uc003uho.1_Missense_Mutation_p.D270Y	p.D275Y	NM_000601	NP_000592	P14210	HGF_HUMAN			7	988	-			275			Kringle 2.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.823G>T	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722886	0.89298	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.75	5.75	0.90469	Kringle (4);Kringle-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87386	0.6164	M	0.93507	3.425	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;0.998;1.0	D	0.89871	0.4023	10	0.87932	D	0	.	19.9474	0.97186	0.0:1.0:0.0:0.0	.	270;275;270;275	P14210-5;P14210-2;P14210-3;P14210	.;.;.;HGF_HUMAN	Y	275;270;275;270;275	ENSP00000222390:D275Y;ENSP00000391238:D270Y;ENSP00000389854:D275Y;ENSP00000408270:D270Y	ENSP00000222390:D275Y	D	-	1	0	HGF	81210647	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.184000	0.77705	2.724000	0.93272	0.655000	0.94253	GAC		0.478	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		16	38	1	0	4.7546e-09	0.004007	6.24485e-09	16	38				
PCLO	27445	broad.mit.edu	37	7	82545902	82545902	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:82545902G>T	ENST00000333891.9	-	7	11737	c.11400C>A	c.(11398-11400)taC>taA	p.Y3800*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.Y3800*|PCLO_ENST00000437081.1_Nonsense_Mutation_p.Y520*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCATTTCCAGGTATCGTAGCT	0.443																																							uc003uhx.2		NA																	0				ovary(7)	7						c.(11398-11400)TAC>TAA		piccolo isoform 1							175.0	155.0	162.0					7																	82545902		1896	4127	6023	SO:0001587	stop_gained	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545902G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11400C>A	7.37:g.82545902G>T	ENSP00000334319:p.Tyr3800*					PCLO_uc003uhv.2_Nonsense_Mutation_p.Y3800*|PCLO_uc010lec.2_Nonsense_Mutation_p.Y765*	p.Y3800*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	11689	-			3731						Nonsense_Mutation	SNP	ENST00000333891.9	37	c.11400C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089508	0.76756	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	.	.	.	5.74	0.86	0.19042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.78	0.40643	0.494:0.0:0.506:0.0	.	.	.	.	X	3800;3800;520	.	ENSP00000334319:Y3800X	Y	-	3	2	PCLO	82383838	1.000000	0.71417	0.965000	0.40720	0.992000	0.81027	1.511000	0.35801	-0.110000	0.12022	0.563000	0.77884	TAC		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		14	67	1	0	1.05317e-09	0.00245	1.39893e-09	14	67				
STAG3	10734	broad.mit.edu	37	7	99795408	99795408	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:99795408A>G	ENST00000426455.1	+	11	1480	c.1073A>G	c.(1072-1074)gAa>gGa	p.E358G	GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.E300G|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.E358G	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	358	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.E358V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCACCGAGAAGTCCGCCTG	0.562																																							uc003utx.1		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(1072-1074)GAA>GGA		stromal antigen 3							89.0	88.0	88.0					7																	99795408		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99795408A>G	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1073A>G	7.37:g.99795408A>G	ENSP00000400359:p.Glu358Gly					STAG3_uc010lgs.1_Missense_Mutation_p.E146G|STAG3_uc011kjk.1_Missense_Mutation_p.E300G|STAG3_uc003uub.1_5'Flank	p.E358G	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN			11	1228	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		358			SCD.		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.1073A>G	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	12.86	2.063767	0.36373	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296	T;T;T	0.34275	1.37;1.37;1.37	5.71	5.71	0.89125	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.124068	0.35646	N	0.003073	T	0.42086	0.1187	M	0.73372	2.23	0.37533	D	0.917985	P;B	0.48503	0.911;0.007	P;B	0.45037	0.467;0.011	T	0.55354	-0.8154	10	0.87932	D	0	-2.5797	10.0627	0.42284	0.8311:0.1689:0.0:0.0	.	300;358	B4DZ10;Q9UJ98	.;STAG3_HUMAN	G	358;300;316;358	ENSP00000400359:E358G;ENSP00000377586:E300G;ENSP00000319318:E358G	ENSP00000319318:E358G	E	+	2	0	STAG3	99633344	0.998000	0.40836	0.992000	0.48379	0.201000	0.24016	3.834000	0.55798	2.176000	0.68965	0.528000	0.53228	GAA		0.562	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		10	111	0	0	0	0.000978	0	10	111				
SRRT	51593	broad.mit.edu	37	7	100483532	100483532	+	Silent	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:100483532A>G	ENST00000347433.4	+	12	1586	c.1428A>G	c.(1426-1428)aaA>aaG	p.K476K	SRRT_ENST00000457580.2_Silent_p.K476K|SRRT_ENST00000388793.4_Silent_p.K475K|SRRT_ENST00000432932.1_Silent_p.K475K			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	476					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TTAACATTAAAGAGATCTGTT	0.527																																							uc003uwy.2		NA																	0				ovary(2)	2						c.(1426-1428)AAA>AAG		arsenate resistance protein 2 isoform a							145.0	136.0	139.0					7																	100483532		2203	4300	6503	SO:0001819	synonymous_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100483532A>G		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1428A>G	7.37:g.100483532A>G						SRRT_uc010lhl.1_Silent_p.K475K|SRRT_uc003uxa.2_Silent_p.K475K|SRRT_uc003uwz.2_Silent_p.K476K	p.K476K	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			13	1696	+			476					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	c.1428A>G	CCDS34709.1																																																																																				0.527	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		13	105	0	0	0	0.001855	0	13	105				
IRF5	3663	broad.mit.edu	37	7	128588302	128588302	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:128588302C>T	ENST00000402030.2	+	8	1243	c.1171C>T	c.(1171-1173)Cca>Tca	p.P391S	IRF5_ENST00000477535.1_Missense_Mutation_p.P305S|IRF5_ENST00000249375.4_Missense_Mutation_p.P391S|IRF5_ENST00000357234.5_Missense_Mutation_p.P407S|IRF5_ENST00000473745.1_Missense_Mutation_p.P391S	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	391					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						CAACACCCCACCACCCTTCGA	0.537																																							uc003vog.2		NA																	0					0						c.(1189-1191)CCA>TCA		interferon regulatory factor 5 isoform a							144.0	145.0	145.0					7																	128588302		2203	4300	6503	SO:0001583	missense	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128588302C>T		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.1171C>T	7.37:g.128588302C>T	ENSP00000385352:p.Pro391Ser					IRF5_uc003voh.2_Missense_Mutation_p.P381S|IRF5_uc010llt.2_Missense_Mutation_p.P305S|IRF5_uc003voi.2_Missense_Mutation_p.P381S|IRF5_uc003voj.3_Missense_Mutation_p.P381S	p.P397S	NM_002200	NP_002191	Q13568	IRF5_HUMAN			9	1310	+			391					A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	c.1189C>T	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683763	0.88639	.	.	ENSG00000128604	ENST00000357234;ENST00000477535;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	D;D;D;D;D	0.99158	-5.5;-5.5;-5.5;-5.5;-5.5	5.39	5.39	0.77823	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.000000	0.53938	D	0.000041	D	0.99471	0.9812	M	0.93939	3.475	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98444	1.0588	10	0.87932	D	0	-9.4899	16.6677	0.85257	0.0:1.0:0.0:0.0	.	305;391;407	E7EW54;Q13568;Q13568-2	.;IRF5_HUMAN;.	S	407;305;391;391;391;381	ENSP00000349770:P407S;ENSP00000419950:P305S;ENSP00000385352:P391S;ENSP00000249375:P391S;ENSP00000419149:P391S	ENSP00000249375:P391S	P	+	1	0	IRF5	128375538	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	7.395000	0.79876	2.526000	0.85167	0.561000	0.74099	CCA		0.537	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		28	87	0	0	0	0.00632	0	28	87				
OR6V1	346517	broad.mit.edu	37	7	142749587	142749587	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:142749587C>T	ENST00000418316.1	+	1	171	c.150C>T	c.(148-150)gaC>gaT	p.D50D		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCATAGCTGACACCCACCTAC	0.502																																							uc011ksv.1		NA																	0				ovary(1)	1						c.(148-150)GAC>GAT		olfactory receptor, family 6, subfamily V,							273.0	263.0	266.0					7																	142749587		2028	4201	6229	SO:0001819	synonymous_variant	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142749587C>T		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.150C>T	7.37:g.142749587C>T							p.D50D	NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN			1	150	+	Melanoma(164;0.059)		50			Cytoplasmic (Potential).		A4D2I0|B9EH48|Q6IF70	Silent	SNP	ENST00000418316.1	37	c.150C>T	CCDS47728.1																																																																																				0.502	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			59	201	0	0	0	0.00361	0	59	201				
ATG9B	285973	broad.mit.edu	37	7	150721177	150721177	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:150721177G>C	ENST00000377974.2	-	1	409	c.334C>G	c.(334-336)Ccc>Gcc	p.P112A	ATG9B_ENST00000605938.1_Missense_Mutation_p.P112A|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000605952.1_Missense_Mutation_p.P112A			Q674R7	ATG9B_HUMAN	autophagy related 9B	112	Pro-rich.				autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCAGGAGGGAGATGCAGAG	0.657																																							uc011kvc.1		NA																	0				ovary(1)	1						c.(334-336)CCC>GCC		ATG9 autophagy related 9 homolog B							14.0	16.0	16.0					7																	150721177		1962	4129	6091	SO:0001583	missense	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150721177G>C	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.334C>G	7.37:g.150721177G>C	ENSP00000475005:p.Pro112Ala					ATG9B_uc003wig.3_5'Flank	p.P112A	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	410	-	all_neural(206;0.219)		112			Pro-rich.|Cytoplasmic (By similarity).		A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37	c.334C>G		.	.	.	.	.	.	.	.	.	.	G	8.468	0.856783	0.17106	.	.	ENSG00000248602	ENST00000377974;ENST00000397266;ENST00000545613	.	.	.	4.85	3.88	0.44766	.	0.358818	0.20865	N	0.084276	T	0.33235	0.0856	.	.	.	.	.	.	B	0.16603	0.018	B	0.16722	0.016	T	0.34104	-0.9842	7	0.15499	T	0.54	-0.3632	9.9024	0.41355	0.1079:0.0:0.8921:0.0	.	112	Q674R7	ATG9B_HUMAN	A	112	.	ENSP00000444232:P112A	P	-	1	0	AC010973.1	150352110	0.021000	0.18746	0.375000	0.26029	0.393000	0.30537	1.068000	0.30629	2.505000	0.84491	0.655000	0.94253	CCC		0.657	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		3	19	0	0	0	0.004672	0	3	19				
CSMD1	64478	broad.mit.edu	37	8	2808709	2808709	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:2808709G>T	ENST00000520002.1	-	67	10686	c.10131C>A	c.(10129-10131)gaC>gaA	p.D3377E	CSMD1_ENST00000542608.1_Missense_Mutation_p.D3199E|CSMD1_ENST00000602557.1_Missense_Mutation_p.D3377E|CSMD1_ENST00000400186.3_Missense_Mutation_p.D3200E|CSMD1_ENST00000602723.1_Missense_Mutation_p.D3200E|CSMD1_ENST00000537824.1_Missense_Mutation_p.D3376E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3377						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATTGAACCAGTCAACAGTTA	0.473																																							uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(10129-10131)GAC>GAA		CUB and Sushi multiple domains 1 precursor							83.0	81.0	82.0					8																	2808709		1930	4125	6055	SO:0001583	missense	64478					integral to membrane		g.chr8:2808709G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10131C>A	8.37:g.2808709G>T	ENSP00000430733:p.Asp3377Glu					CSMD1_uc011kwj.1_Missense_Mutation_p.D2691E|CSMD1_uc010lrg.2_Missense_Mutation_p.D1268E	p.D3377E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	66	10521	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3377			Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.10131C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.16|13.16	2.153893|2.153893	0.38021|0.38021	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.24723|.	1.84;1.96;1.98;1.84|.	5.2|5.2	4.32|4.32	0.51571|0.51571	.|.	0.208574|.	0.41097|.	D|.	0.000943|.	T|T	0.51176|0.51176	0.1659|0.1659	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	B;B;B|.	0.29716|.	0.255;0.016;0.218|.	B;B;B|.	0.31751|.	0.078;0.033;0.135|.	T|T	0.44003|0.44003	-0.9356|-0.9356	10|5	0.72032|.	D|.	0.01|.	.|.	8.3535|8.3535	0.32316|0.32316	0.2533:0.0:0.7467:0.0|0.2533:0.0:0.7467:0.0	.|.	3377;3377;3199|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	E|M	3200;3377;3238;3376;3199|2779	ENSP00000383047:D3200E;ENSP00000430733:D3377E;ENSP00000441462:D3376E;ENSP00000446243:D3199E|.	ENSP00000320445:D3238E|.	D|L	-|-	3|1	2|2	CSMD1|CSMD1	2796116|2796116	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.675000|0.675000	0.39556|0.39556	2.297000|2.297000	0.43593|0.43593	1.176000|1.176000	0.42840|0.42840	0.637000|0.637000	0.83480|0.83480	GAC|CTG		0.473	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		9	11	1	0	1.61879e-10	0.001368	2.20006e-10	9	11				
PRKDC	5591	broad.mit.edu	37	8	48790322	48790322	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:48790322C>T	ENST00000314191.2	-	41	5379	c.5323G>A	c.(5323-5325)Gaa>Aaa	p.E1775K	PRKDC_ENST00000338368.3_Missense_Mutation_p.E1775K|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1776					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGAAATAATTCTTCCATGACA	0.403								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(5326-5328)GAA>AAA	NHEJ	protein kinase, DNA-activated, catalytic							131.0	128.0	129.0					8																	48790322		1882	4101	5983	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48790322C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5323G>A	8.37:g.48790322C>T	ENSP00000313420:p.Glu1775Lys					PRKDC_uc003xqj.2_Missense_Mutation_p.E1776K|PRKDC_uc011ldh.1_Intron	p.E1776K	NM_006904	NP_008835	P78527	PRKDC_HUMAN			41	5383	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1776					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.5326G>A		.	.	.	.	.	.	.	.	.	.	C	21.1	4.101243	0.76983	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.65549	-0.16;-0.16	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.058156	0.64402	D	0.000002	T	0.71904	0.3395	M	0.77103	2.36	0.80722	D	1	P;P	0.45396	0.857;0.561	P;B	0.46275	0.51;0.351	T	0.75941	-0.3140	10	0.66056	D	0.02	.	19.7092	0.96085	0.0:1.0:0.0:0.0	.	1775;1776	E7EUY0;P78527	.;PRKDC_HUMAN	K	1775	ENSP00000313420:E1775K;ENSP00000345182:E1775K	ENSP00000313420:E1775K	E	-	1	0	PRKDC	48952875	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	5.225000	0.65294	2.664000	0.90586	0.585000	0.79938	GAA		0.403	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		7	91	0	0	0	0.001984	0	7	91				
RALYL	138046	broad.mit.edu	37	8	85441676	85441676	+	Silent	SNP	C	C	A	rs267602019		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:85441676C>A	ENST00000521268.1	+	2	1225	c.120C>A	c.(118-120)gcC>gcA	p.A40A	RALYL_ENST00000518566.1_Silent_p.A40A|RALYL_ENST00000521695.1_Silent_p.A40A|RALYL_ENST00000522455.1_Silent_p.A40A|RALYL_ENST00000517638.1_Silent_p.A53A	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	40	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ACATTGAAGCCATTTTTTCAA	0.423																																							uc003ycq.3		NA																	0				ovary(1)	1						c.(118-120)GCC>GCA		RALY RNA binding protein-like isoform 2							59.0	61.0	61.0					8																	85441676		1972	4176	6148	SO:0001819	synonymous_variant	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85441676C>A		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.120C>A	8.37:g.85441676C>A						RALYL_uc003ycr.3_Silent_p.A40A|RALYL_uc003ycs.3_Silent_p.A40A|RALYL_uc010lzy.2_Silent_p.A40A|RALYL_uc003yct.3_Silent_p.A53A	p.A40A	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN			3	536	+			40			RRM.		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP	ENST00000521268.1	37	c.120C>A	CCDS55253.1																																																																																				0.423	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			18	24	1	0	6.49762e-13	0.006122	8.93423e-13	18	24				
DCAF4L2	138009	broad.mit.edu	37	8	88885892	88885892	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:88885892G>T	ENST00000319675.3	-	1	404	c.308C>A	c.(307-309)aCc>aAc	p.T103N		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	103								p.T103N(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCCTCGCATGGTGATGATGCC	0.542																																							uc003ydz.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)	1						c.(307-309)ACC>AAC		WD repeat domain 21C							159.0	148.0	152.0					8																	88885892		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885892G>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.308C>A	8.37:g.88885892G>T	ENSP00000316496:p.Thr103Asn						p.T103N	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	405	-			103						Missense_Mutation	SNP	ENST00000319675.3	37	c.308C>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.254796	0.01457	.	.	ENSG00000176566	ENST00000319675	T	0.59906	0.23	1.91	-2.61	0.06171	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.389746	0.34802	N	0.003676	T	0.18467	0.0443	N	0.02247	-0.625	0.19775	N	0.999953	B	0.02656	0.0	B	0.04013	0.001	T	0.27054	-1.0085	10	0.02654	T	1	.	3.6807	0.08309	0.0:0.1732:0.2553:0.5715	.	103	Q8NA75	DC4L2_HUMAN	N	103	ENSP00000316496:T103N	ENSP00000316496:T103N	T	-	2	0	DCAF4L2	88955008	1.000000	0.71417	0.006000	0.13384	0.057000	0.15508	2.473000	0.45145	-0.814000	0.04352	0.460000	0.39030	ACC		0.542	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		44	76	1	0	1.81118e-26	0.00361	2.60219e-26	44	76				
TRPS1	7227	broad.mit.edu	37	8	116426524	116426524	+	Silent	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:116426524T>C	ENST00000220888.5	-	6	3732	c.3573A>G	c.(3571-3573)gtA>gtG	p.V1191V	TRPS1_ENST00000520276.1_Silent_p.V1195V|TRPS1_ENST00000519076.1_Silent_p.V945V|TRPS1_ENST00000395715.3_Silent_p.V1204V			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1191	Transcriptional repressor domain. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTTCATTTTTTACATTTGGTG	0.423									Langer-Giedion syndrome																														uc003ynz.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(3571-3573)GTA>GTG		zinc finger transcription factor TRPS1							80.0	74.0	76.0					8																	116426524		1894	4116	6010	SO:0001819	synonymous_variant	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116426524T>C	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3573A>G	8.37:g.116426524T>C						TRPS1_uc011lhy.1_Silent_p.V1195V|TRPS1_uc003yny.2_Silent_p.V1204V|TRPS1_uc010mcy.2_Silent_p.V1191V	p.V1191V	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		6	4032	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		1191			Transcriptional repressor domain (By similarity).		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	ENST00000220888.5	37	c.3573A>G																																																																																					0.423	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		13	42	0	0	0	0.001368	0	13	42				
TRPS1	7227	broad.mit.edu	37	8	116631652	116631652	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:116631652G>T	ENST00000220888.5	-	2	793	c.634C>A	c.(634-636)Ccg>Acg	p.P212T	TRPS1_ENST00000520276.1_Missense_Mutation_p.P216T|TRPS1_ENST00000519076.1_Missense_Mutation_p.P166T|TRPS1_ENST00000519674.1_Missense_Mutation_p.P212T|TRPS1_ENST00000395715.3_Missense_Mutation_p.P225T			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	212					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGAGGTGCCGGGTCTGGGTTG	0.468									Langer-Giedion syndrome																														uc003ynz.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(634-636)CCG>ACG		zinc finger transcription factor TRPS1							128.0	130.0	129.0					8																	116631652		1980	4195	6175	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116631652G>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.634C>A	8.37:g.116631652G>T	ENSP00000220888:p.Pro212Thr					TRPS1_uc011lhy.1_Missense_Mutation_p.P216T|TRPS1_uc003yny.2_Missense_Mutation_p.P225T|TRPS1_uc010mcy.2_Missense_Mutation_p.P212T	p.P212T	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		2	1093	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		212					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.634C>A		.	.	.	.	.	.	.	.	.	.	G	7.568	0.666133	0.14710	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98264	-4.83;-4.8;-4.82;-4.8;1.0	5.56	2.44	0.29823	.	0.281252	0.31031	N	0.008399	D	0.92443	0.7601	N	0.14661	0.345	0.34997	D	0.755611	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	D	0.88254	0.2918	10	0.31617	T	0.26	.	3.3032	0.06990	0.0835:0.3218:0.333:0.2617	.	216;212;225	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	T	225;212;166;216;212	ENSP00000379065:P225T;ENSP00000220888:P212T;ENSP00000428910:P166T;ENSP00000428680:P216T;ENSP00000429174:P212T	ENSP00000220888:P212T	P	-	1	0	TRPS1	116700827	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.648000	0.37271	1.333000	0.45449	-0.515000	0.04445	CCG		0.468	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		18	130	1	0	6.94344e-10	0.006122	9.29313e-10	18	130				
TRPS1	7227	broad.mit.edu	37	8	116631786	116631786	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:116631786G>T	ENST00000220888.5	-	2	659	c.500C>A	c.(499-501)gCa>gAa	p.A167E	TRPS1_ENST00000520276.1_Missense_Mutation_p.A171E|TRPS1_ENST00000519076.1_Missense_Mutation_p.A121E|TRPS1_ENST00000519674.1_Missense_Mutation_p.A167E|TRPS1_ENST00000395715.3_Missense_Mutation_p.A180E			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	167					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACCACTCTGTGCTTGCCCTGT	0.502									Langer-Giedion syndrome																														uc003ynz.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(499-501)GCA>GAA		zinc finger transcription factor TRPS1							117.0	115.0	116.0					8																	116631786		1963	4156	6119	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116631786G>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.500C>A	8.37:g.116631786G>T	ENSP00000220888:p.Ala167Glu					TRPS1_uc011lhy.1_Missense_Mutation_p.A171E|TRPS1_uc003yny.2_Missense_Mutation_p.A180E|TRPS1_uc010mcy.2_Missense_Mutation_p.A167E	p.A167E	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		2	959	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		167					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.500C>A		.	.	.	.	.	.	.	.	.	.	G	12.61	1.988228	0.35036	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98493	-4.96;-4.93;-4.91;-4.93;0.87	5.56	-6.2	0.02072	.	0.760107	0.11992	N	0.509733	D	0.93841	0.8030	N	0.14661	0.345	0.21841	N	0.999513	B;B;B	0.32968	0.151;0.093;0.392	B;B;B	0.35971	0.215;0.107;0.215	D	0.85954	0.1466	10	0.87932	D	0	-10.0779	13.3266	0.60463	0.7828:0.0958:0.1214:0.0	.	171;167;180	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	E	180;167;121;171;167	ENSP00000379065:A180E;ENSP00000220888:A167E;ENSP00000428910:A121E;ENSP00000428680:A171E;ENSP00000429174:A167E	ENSP00000220888:A167E	A	-	2	0	TRPS1	116700961	0.011000	0.17503	0.582000	0.28627	0.932000	0.56968	-0.161000	0.10026	-1.565000	0.01676	-0.384000	0.06662	GCA		0.502	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		4	101	1	0	0.000602214	0.000602	0.000695015	4	101				
AGO2	27161	broad.mit.edu	37	8	141583013	141583013	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:141583013C>T	ENST00000220592.5	-	3	346	c.234G>A	c.(232-234)atG>atA	p.M78I	AGO2_ENST00000519980.1_Missense_Mutation_p.M78I|AGO2_ENST00000517293.1_5'UTR	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	78					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										AGTGCTGGACCATGTGTTCCA	0.443																																							uc003yvn.2		NA																	0					0						c.(232-234)ATG>ATA		argonaute 2 isoform 1							111.0	98.0	102.0					8																	141583013		2203	4300	6503	SO:0001583	missense	27161				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity	g.chr8:141583013C>T	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.234G>A	8.37:g.141583013C>T	ENSP00000220592:p.Met78Ile					EIF2C2_uc010men.2_Missense_Mutation_p.M1I|EIF2C2_uc010meo.2_Missense_Mutation_p.M78I	p.M78I	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.158)		3	274	-	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	78					Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.234G>A	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066103	0.76187	.	.	ENSG00000123908	ENST00000220592;ENST00000519980;ENST00000524328	T;T;T	0.09538	2.97;2.97;2.97	5.01	4.13	0.48395	Argonaute/Dicer protein, PAZ (1);	0.036135	0.85682	D	0.000000	T	0.15869	0.0382	M	0.67953	2.075	0.80722	D	1	B;B	0.23735	0.09;0.024	B;B	0.28139	0.086;0.027	T	0.02464	-1.1155	10	0.66056	D	0.02	-10.5937	13.0855	0.59138	0.0:0.9208:0.0:0.0792	.	78;78	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	I	78;78;32	ENSP00000220592:M78I;ENSP00000430176:M78I;ENSP00000431056:M32I	ENSP00000220592:M78I	M	-	3	0	EIF2C2	141652195	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	7.156000	0.77453	1.221000	0.43506	0.561000	0.74099	ATG		0.443	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			5	64	0	0	0	0.001168	0	5	64				
LYNX1	66004	broad.mit.edu	37	8	143857024	143857024	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:143857024C>G	ENST00000335822.5	-	3	768	c.141G>C	c.(139-141)atG>atC	p.M47I	LYNX1_ENST00000522906.1_5'Flank|LYNX1_ENST00000345173.6_Missense_Mutation_p.M47I|LYNX1_ENST00000398906.1_Missense_Mutation_p.M47I|LYNX1_ENST00000523332.1_Missense_Mutation_p.M47I|LYNX1_ENST00000395192.2_Missense_Mutation_p.M47I	NM_023946.2	NP_076435.1	Q9BZG9	LYNX1_HUMAN	Ly6/neurotoxin 1	47						anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGCGCGTGGTCATGCAGTAGG	0.662																																							uc003yxc.1		NA																	0					0						c.(139-141)ATG>ATC		Ly-6 neurotoxin-like protein 1 isoform c							62.0	50.0	54.0					8																	143857024		2202	4297	6499	SO:0001583	missense	66004					anchored to membrane|plasma membrane		g.chr8:143857024C>G	AF321824	CCDS6389.1, CCDS34951.1, CCDS34952.1	8q24.3	2008-03-12			ENSG00000180155	ENSG00000180155			29604	protein-coding gene	gene with protein product		606110				12573258, 10402197	Standard	NM_023946		Approved	SLURP2	uc003yxd.1	Q9BZG9	OTTHUMG00000164694	ENST00000335822.5:c.141G>C	8.37:g.143857024C>G	ENSP00000337950:p.Met47Ile					LYNX1_uc003yxb.2_Missense_Mutation_p.M47I|LYNX1_uc003yxd.1_Missense_Mutation_p.M47I|LYNX1_uc003yxe.1_Missense_Mutation_p.M47I	p.M47I	NM_177476	NP_803429	Q9BZG9	LYNX1_HUMAN			3	411	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		47			UPAR/Ly6.		D3DWI7|G3XAC2|Q86SR0	Missense_Mutation	SNP	ENST00000335822.5	37	c.141G>C	CCDS34951.1	.	.	.	.	.	.	.	.	.	.	c	16.07	3.018425	0.54576	.	.	ENSG00000180155	ENST00000523332;ENST00000335822;ENST00000395192;ENST00000398906;ENST00000345173;ENST00000522929;ENST00000520131	T;T;T;T;T;T;T	0.68025	2.04;2.04;-0.3;-0.3;-0.3;-0.3;-0.3	4.82	4.82	0.62117	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	0.874683	0.10020	N	0.726145	T	0.76702	0.4024	L	0.43152	1.355	0.20764	N	0.99985	D;P	0.53885	0.963;0.954	D;D	0.69824	0.966;0.943	T	0.65857	-0.6066	10	0.56958	D	0.05	-13.9387	13.4739	0.61297	0.0:1.0:0.0:0.0	.	47;47	Q9BZG9;G3XAC2	LYNX1_HUMAN;.	I	47	ENSP00000428713:M47I;ENSP00000337950:M47I;ENSP00000378618:M47I;ENSP00000381878:M47I;ENSP00000332495:M47I;ENSP00000429261:M47I;ENSP00000428157:M47I	ENSP00000337950:M47I	M	-	3	0	LYNX1	143854026	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.440000	0.52886	2.253000	0.74438	0.650000	0.86243	ATG		0.662	LYNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379786.3	NM_177476		4	13	0	0	0	0.000248	0	4	13				
FAM154A	158297	broad.mit.edu	37	9	18928737	18928737	+	Silent	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:18928737G>T	ENST00000380534.4	-	4	1017	c.738C>A	c.(736-738)ggC>ggA	p.G246G	FAM154A_ENST00000542071.1_Silent_p.G54G|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	246										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CCCCCATCAGGCCCCGGTAGG	0.532																																							uc003zni.1		NA																	0				pancreas(1)	1						c.(736-738)GGC>GGA		hypothetical protein LOC158297							59.0	66.0	63.0					9																	18928737		2203	4300	6503	SO:0001819	synonymous_variant	158297							g.chr9:18928737G>T	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.738C>A	9.37:g.18928737G>T						FAM154A_uc010mip.1_Silent_p.G54G	p.G246G	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	4	1016	-			246					Q5VY58	Silent	SNP	ENST00000380534.4	37	c.738C>A	CCDS6487.1																																																																																				0.532	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		20	36	1	0	2.94398e-08	0.007413	3.7959e-08	20	36				
ACO1	48	broad.mit.edu	37	9	32436252	32436252	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:32436252A>T	ENST00000309951.6	+	18	2242	c.2104A>T	c.(2104-2106)Act>Tct	p.T702S	ACO1_ENST00000379923.1_Missense_Mutation_p.T702S|ACO1_ENST00000541043.1_Missense_Mutation_p.T603S	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	702					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TCTTAGCCTAACTCCACGAGA	0.423																																							uc003zqw.3		NA																	0					0						c.(2104-2106)ACT>TCT		aconitase 1							121.0	110.0	114.0					9																	32436252		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32436252A>T	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.2104A>T	9.37:g.32436252A>T	ENSP00000309477:p.Thr702Ser					ACO1_uc010mjh.1_3'UTR|ACO1_uc003zqx.3_Missense_Mutation_p.T702S|ACO1_uc003zqy.3_RNA	p.T702S	NM_002197	NP_002188	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	18	2259	+			702					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.2104A>T	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.751039	0.49257	.	.	ENSG00000122729	ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.35048	1.33;1.33;2.33	5.94	5.94	0.96194	Aconitase/3-isopropylmalate dehydratase, swivel (2);Aconitase A/isopropylmalate dehydratase small subunit, swivel (1);	0.094910	0.64402	D	0.000001	T	0.32793	0.0841	L	0.41236	1.265	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.04427	-1.0952	10	0.44086	T	0.13	-19.5067	15.3901	0.74735	1.0:0.0:0.0:0.0	.	702	P21399	ACOC_HUMAN	S	702;702;603	ENSP00000309477:T702S;ENSP00000369255:T702S;ENSP00000438733:T603S	ENSP00000309477:T702S	T	+	1	0	ACO1	32426252	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	6.042000	0.70996	2.275000	0.75901	0.528000	0.53228	ACT		0.423	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		11	53	0	0	0	0.000978	0	11	53				
Unknown	0	broad.mit.edu	37	9	66499680	66499680	+	IGR	SNP	C	C	A	rs370931238		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:66499680C>A								RP11-262H14.1 (30370 upstream) : RP11-262H14.7 (17525 downstream)																							TCATGTTAACCCCTTCCCAGG	0.582																																							uc004aee.1		NA																	0					0						c.(490-492)CCC>ACC		Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																																				SO:0001628	intergenic_variant	442421							g.chr9:66499680C>A																													9.37:g.66499680C>A						LOC442421_uc004aed.1_RNA	p.P164T							1	490	+									Missense_Mutation	SNP		37	c.490C>A																																																																																				0	0.582									4	35	1	0	2.56e-06	0.000248	3.18417e-06	4	35				
SPATA31E1	286234	broad.mit.edu	37	9	90502131	90502131	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:90502131G>A	ENST00000325643.5	+	4	2795	c.2729G>A	c.(2728-2730)aGc>aAc	p.S910N		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	910					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGAACAACAAGCAAGTCAGTC	0.597																																							uc004app.3		NA																	0				ovary(3)	3						c.(2728-2730)AGC>AAC		chromosome 9 open reading frame 79							56.0	56.0	56.0					9																	90502131		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90502131G>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2729G>A	9.37:g.90502131G>A	ENSP00000322640:p.Ser910Asn					C9orf79_uc004apo.1_Missense_Mutation_p.S722N	p.S910N	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	2764	+			910					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.2729G>A	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	9.236	1.036957	0.19669	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.03386	3.95	2.39	-4.14	0.03892	.	2.539230	0.01413	N	0.014081	T	0.03011	0.0089	N	0.22421	0.69	0.09310	N	1	P;P	0.52692	0.955;0.892	B;B	0.43478	0.421;0.263	T	0.34229	-0.9837	10	0.27082	T	0.32	.	3.8216	0.08837	0.358:0.3958:0.2462:0.0	.	910;562	Q6ZUB1;Q8NA33	CI079_HUMAN;.	N	910;562	ENSP00000322640:S910N	ENSP00000322640:S910N	S	+	2	0	C9orf79	89691951	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.087000	0.14958	-0.901000	0.03891	-0.259000	0.10710	AGC		0.597	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		7	40	0	0	0	0.00308	0	7	40				
SPATA31C1	441452	broad.mit.edu	37	9	90536166	90536166	+	RNA	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:90536166C>T	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGCCTGAGAACTTTCCAGTCA	0.493																																							uc010mqi.2		NA																	0					0						c.(1342-1344)AAC>AAT		family with sequence similarity 75, member C1							12.0	14.0	13.0					9																	90536166		692	1591	2283			441452							g.chr9:90536166C>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90536166C>T						FAM75C1_uc004apq.3_Silent_p.N431N	p.N448N	NM_001145124	NP_001138596					4	1373	+									Silent	SNP	ENST00000602681.1	37	c.1344C>T																																																																																					0.493	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		17	98	0	0	0	0.00333	0	17	98				
PHF2	5253	broad.mit.edu	37	9	96421880	96421880	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:96421880G>T	ENST00000359246.4	+	11	1694	c.1327G>T	c.(1327-1329)Gag>Tag	p.E443*	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	443					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCGGCTCAGTGAGGTGGGGCC	0.617																																							uc004aub.2		NA																	0				ovary(1)	1						c.(1327-1329)GAG>TAG		PHD finger protein 2							48.0	43.0	45.0					9																	96421880		2203	4300	6503	SO:0001587	stop_gained	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96421880G>T	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1327G>T	9.37:g.96421880G>T	ENSP00000352185:p.Glu443*					PHF2_uc011lug.1_Nonsense_Mutation_p.E326*	p.E443*	NM_005392	NP_005383	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	11	1474	+		Myeloproliferative disorder(762;0.0255)	443					Q4VXG0|Q8N3K2|Q9Y6N4	Nonsense_Mutation	SNP	ENST00000359246.4	37	c.1327G>T	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	G	41	8.625509	0.98890	.	.	ENSG00000197724	ENST00000359246	.	.	.	4.42	4.42	0.53409	.	0.386603	0.24141	N	0.041162	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-41.9141	17.2089	0.86925	0.0:0.0:1.0:0.0	.	.	.	.	X	443	.	ENSP00000352185:E443X	E	+	1	0	PHF2	95461701	1.000000	0.71417	0.989000	0.46669	0.762000	0.43233	9.028000	0.93712	2.280000	0.76307	0.297000	0.19635	GAG		0.617	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		12	14	1	0	3.03607e-14	0.001368	4.24086e-14	12	14				
PTCH1	5727	broad.mit.edu	37	9	98241374	98241374	+	Missense_Mutation	SNP	G	G	A	rs374145534		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:98241374G>A	ENST00000331920.6	-	8	1422	c.1123C>T	c.(1123-1125)Cac>Tac	p.H375Y	PTCH1_ENST00000429896.2_Missense_Mutation_p.H224Y|PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000375274.2_Missense_Mutation_p.H374Y|PTCH1_ENST00000437951.1_Missense_Mutation_p.H309Y|PTCH1_ENST00000430669.2_Missense_Mutation_p.H309Y|PTCH1_ENST00000418258.1_Missense_Mutation_p.H224Y|PTCH1_ENST00000421141.1_Missense_Mutation_p.H224Y	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	375					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCCTTGAAGTGCTCGTACATT	0.537																																							uc004avk.3		NA																	0				skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(1123-1125)CAC>TAC		patched isoform L		G	TYR/HIS,TYR/HIS,TYR/HIS,TYR/HIS,TYR/HIS,TYR/HIS,TYR/HIS	1,4405	2.1+/-5.4	0,1,2202	206.0	153.0	171.0		1123,925,1120,670,670,670,670	6.1	1.0	9		171	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	PTCH1	NM_000264.3,NM_001083602.1,NM_001083603.1,NM_001083604.1,NM_001083605.1,NM_001083606.1,NM_001083607.1	83,83,83,83,83,83,83	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign	375/1448,309/1382,374/1447,224/1297,224/1297,224/1297,224/1297	98241374	1,13005	2203	4300	6503	SO:0001583	missense	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98241374G>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1123C>T	9.37:g.98241374G>A	ENSP00000332353:p.His375Tyr					PTCH1_uc010mro.2_Missense_Mutation_p.H224Y|PTCH1_uc010mrp.2_Missense_Mutation_p.H224Y|PTCH1_uc010mrq.2_Missense_Mutation_p.H224Y|PTCH1_uc004avl.3_Missense_Mutation_p.H224Y|PTCH1_uc010mrr.2_Missense_Mutation_p.H309Y|PTCH1_uc004avm.3_Missense_Mutation_p.H374Y|PTCH1_uc010mrs.1_Missense_Mutation_p.H95Y	p.H375Y	NM_000264	NP_000255	Q13635	PTC1_HUMAN			8	1311	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	375			Extracellular (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.1123C>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793305	0.70452	2.27E-4	0.0	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.90261	-2.63;-2.63;-2.61;-2.61;-2.63;-2.61;-2.64;-2.6	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.92234	0.7537	L	0.33137	0.985	0.58432	D	0.999999	D;B;B;B	0.76494	0.999;0.067;0.357;0.083	D;B;B;B	0.91635	0.999;0.051;0.279;0.086	D	0.87023	0.2130	10	0.08837	T	0.75	-38.2386	20.6439	0.99570	0.0:0.0:1.0:0.0	.	224;309;374;375	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	Y	375;309;224;224;309;224;374;92	ENSP00000332353:H375Y;ENSP00000389744:H309Y;ENSP00000399981:H224Y;ENSP00000396135:H224Y;ENSP00000410287:H309Y;ENSP00000414823:H224Y;ENSP00000364423:H374Y;ENSP00000364420:H92Y	ENSP00000332353:H375Y	H	-	1	0	PTCH1	97281195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.531000	0.81973	2.884000	0.98904	0.655000	0.94253	CAC		0.537	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		9	51	0	0	0	0.006214	0	9	51				
OR13C8	138802	broad.mit.edu	37	9	107331812	107331812	+	Missense_Mutation	SNP	C	C	T	rs79042036		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:107331812C>T	ENST00000335040.1	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GGCACTGGACCGCTATGTGGC	0.527																																							uc011lvo.1		NA																	0				ovary(1)|skin(1)	2						c.(364-366)CGC>TGC		olfactory receptor, family 13, subfamily C,		C	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	109.0	94.0	99.0		364	3.4	1.0	9	dbSNP_131	99	0,8600		0,0,4300	no	missense	OR13C8	NM_001004483.1	180	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	122/321	107331812	3,13003	2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331812C>T		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.364C>T	9.37:g.107331812C>T	ENSP00000334068:p.Arg122Cys						p.R122C	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			1	364	+			122			Cytoplasmic (Potential).		Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.364C>T	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594816	0.28445	6.81E-4	0.0	ENSG00000186943	ENST00000335040	T	0.77358	-1.09	5.18	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000017	T	0.74921	0.3780	M	0.89353	3.025	0.43729	D	0.996215	P	0.39551	0.678	B	0.32928	0.155	T	0.75399	-0.3331	10	0.87932	D	0	.	5.1402	0.14955	0.1639:0.6658:0.0:0.1703	.	122	Q8NGS7	O13C8_HUMAN	C	122	ENSP00000334068:R122C	ENSP00000334068:R122C	R	+	1	0	OR13C8	106371633	0.003000	0.15002	1.000000	0.80357	0.491000	0.33493	0.024000	0.13555	0.891000	0.36235	-0.137000	0.14449	CGC		0.527	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			16	62	0	0	0	0.004007	0	16	62				
OR13C5	138799	broad.mit.edu	37	9	107361392	107361392	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:107361392C>T	ENST00000374779.2	-	1	396	c.303G>A	c.(301-303)atG>atA	p.M101I		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AGCTGAGGAACATCTGCACTG	0.517																																							uc011lvp.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(301-303)ATG>ATA		olfactory receptor, family 13, subfamily C,							91.0	121.0	111.0					9																	107361392		2203	4300	6503	SO:0001583	missense	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107361392C>T		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.303G>A	9.37:g.107361392C>T	ENSP00000363911:p.Met101Ile						p.M101I	NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN			1	303	-			101			Helical; Name=3; (Potential).		B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	c.303G>A	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817791	0.50633	.	.	ENSG00000255800	ENST00000374779	T	0.02015	4.5	4.03	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	U	0.000405	T	0.03739	0.0106	L	0.55743	1.74	0.23739	N	0.996977	B	0.33120	0.398	B	0.39562	0.303	T	0.25984	-1.0116	10	0.56958	D	0.05	.	7.5576	0.27833	0.0:0.8836:0.0:0.1164	.	101	Q8NGS8	O13C5_HUMAN	I	101	ENSP00000363911:M101I	ENSP00000363911:M101I	M	-	3	0	OR13C5	106401213	0.001000	0.12720	0.771000	0.31576	0.426000	0.31534	0.009000	0.13219	2.080000	0.62538	0.531000	0.56144	ATG		0.517	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		8	110	0	0	0	0.008291	0	8	110				
SVEP1	79987	broad.mit.edu	37	9	113194760	113194760	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:113194760C>T	ENST00000401783.2	-	31	5551	c.5215G>A	c.(5215-5217)Gtt>Att	p.V1739I	SVEP1_ENST00000374469.1_Missense_Mutation_p.V1716I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1739	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GATGGTGAAACGCCGTTCCAG	0.443																																							uc010mtz.2		NA																	0				ovary(7)	7						c.(5215-5217)GTT>ATT		polydom							136.0	131.0	132.0					9																	113194760		1943	4136	6079	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113194760C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5215G>A	9.37:g.113194760C>T	ENSP00000384917:p.Val1739Ile						p.V1739I	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			31	5552	-			1739			Sushi 6.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.5215G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	9.099	1.003663	0.19121	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.64618	-0.11;-0.11	5.81	4.61	0.57282	Complement control module (2);Sushi/SCR/CCP (3);	0.164709	0.51477	N	0.000086	T	0.41050	0.1142	N	0.05383	-0.06	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17561	-1.0365	10	0.36615	T	0.2	.	11.6791	0.51446	0.0:0.0697:0.0:0.9303	.	1739	Q4LDE5	SVEP1_HUMAN	I	1739;1716	ENSP00000384917:V1739I;ENSP00000363593:V1716I	ENSP00000363593:V1716I	V	-	1	0	SVEP1	112234581	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	2.378000	0.44309	1.019000	0.39547	-0.290000	0.09829	GTT		0.443	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				16	61	0	0	0	0.006122	0	16	61				
C9orf84	158401	broad.mit.edu	37	9	114454670	114454670	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:114454670G>A	ENST00000318737.4	-	25	3523	c.3395C>T	c.(3394-3396)gCt>gTt	p.A1132V	C9orf84_ENST00000394777.4_Missense_Mutation_p.A1058V|C9orf84_ENST00000394779.3_Missense_Mutation_p.A1093V|C9orf84_ENST00000374287.3_Missense_Mutation_p.A1132V	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1132										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TAAATCAGAAGCTGAACTTTG	0.358																																							uc004bfr.2		NA																	0				ovary(2)	2						c.(3394-3396)GCT>GTT		hypothetical protein LOC158401 isoform 1							70.0	73.0	72.0					9																	114454670		2203	4300	6503	SO:0001583	missense	158401							g.chr9:114454670G>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3395C>T	9.37:g.114454670G>A	ENSP00000322108:p.Ala1132Val					C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.A1093V|C9orf84_uc010mug.2_Missense_Mutation_p.A1043V	p.A1132V	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN			25	3530	-			1132					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.3395C>T	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	9.715	1.158188	0.21454	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.05199	3.48;3.49;3.48;3.48	5.53	3.62	0.41486	.	0.876228	0.09790	N	0.755541	T	0.06554	0.0168	L	0.29908	0.895	0.22378	N	0.999157	B;B;B	0.30634	0.288;0.137;0.288	B;B;B	0.31614	0.133;0.133;0.133	T	0.34229	-0.9837	10	0.59425	D	0.04	-1.8793	9.4783	0.38884	0.0818:0.1471:0.7711:0.0	.	1058;1132;1093	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	V	1093;1058;746;1132;1132	ENSP00000378259:A1093V;ENSP00000378257:A1058V;ENSP00000363405:A1132V;ENSP00000322108:A1132V	ENSP00000322108:A1132V	A	-	2	0	C9orf84	113494491	0.143000	0.22626	0.580000	0.28601	0.023000	0.10783	1.755000	0.38379	1.429000	0.47314	0.563000	0.77884	GCT		0.358	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		7	35	0	0	0	0.001984	0	7	35				
ZNF883	169834	broad.mit.edu	37	9	115760036	115760036	+	lincRNA	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:115760036T>C	ENST00000427548.1	-	0	1777							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GATGTTCAATTAGGTGTGTGC	0.403																																							uc011lwy.1		NA																	0					0						c.(502-504)CTA>CTG		hypothetical protein LOC169834							105.0	103.0	104.0					9																	115760036		2142	4269	6411			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115760036T>C	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760036T>C							p.L168L	NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN			5	1743	-			168			C2H2-type 6.			Silent	SNP	ENST00000427548.1	37	c.504A>G																																																																																					0.403	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		4	42	0	0	0	0.000248	0	4	42				
ZNF618	114991	broad.mit.edu	37	9	116779005	116779005	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:116779005G>T	ENST00000374126.5	+	10	884	c.785G>T	c.(784-786)gGc>gTc	p.G262V	ZNF618_ENST00000288466.7_Missense_Mutation_p.G250V			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GAATTCTGCGGCAAACAGTAC	0.552																																							uc004bid.2		NA																	0					0						c.(784-786)GGC>GTC		zinc finger protein 618							80.0	82.0	81.0					9																	116779005		1993	4161	6154	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116779005G>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.785G>T	9.37:g.116779005G>T	ENSP00000363241:p.Gly262Val					ZNF618_uc004bib.1_Missense_Mutation_p.G230V|ZNF618_uc004bic.2_Missense_Mutation_p.G250V|ZNF618_uc011lxi.1_Missense_Mutation_p.G230V|ZNF618_uc011lxj.1_Missense_Mutation_p.G230V	p.G262V	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			10	884	+			262			C2H2-type 3.		B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.785G>T		.	.	.	.	.	.	.	.	.	.	G	19.37	3.814674	0.70912	.	.	ENSG00000157657	ENST00000374126;ENST00000288466;ENST00000452710;ENST00000374124	T;T;T;T	0.36520	1.25;1.25;2.05;1.85	5.63	4.74	0.60224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	L	0.29908	0.895	0.58432	D	0.999992	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;0.997;1.0;0.999;1.0	T	0.43972	-0.9358	10	0.52906	T	0.07	-18.9579	12.2557	0.54623	0.0824:0.0:0.9176:0.0	.	250;230;262;250;230	B5MDS3;B9EG82;Q5T7W0;Q5T7W0-2;Q5T7W0-3	.;.;ZN618_HUMAN;.;.	V	262;250;238;250	ENSP00000363241:G262V;ENSP00000288466:G250V;ENSP00000395400:G238V;ENSP00000363239:G250V	ENSP00000288466:G250V	G	+	2	0	ZNF618	115818826	1.000000	0.71417	0.983000	0.44433	0.964000	0.63967	8.969000	0.93411	1.386000	0.46466	0.655000	0.94253	GGC		0.552	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		4	22	1	0	0.000602214	0.000602	0.000695015	4	22				
AMBP	259	broad.mit.edu	37	9	116824992	116824992	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:116824992C>T	ENST00000265132.3	-	7	912	c.650G>A	c.(649-651)gGt>gAt	p.G217D		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	217	Glycopeptide (secretory piece).				cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CAGTTGCCCACCCCCTGATCC	0.542																																							uc004bie.3		NA																	0				skin(1)	1						c.(649-651)GGT>GAT		alpha-1-microglobulin/bikunin preproprotein	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						148.0	131.0	137.0					9																	116824992		2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116824992C>T	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.650G>A	9.37:g.116824992C>T	ENSP00000265132:p.Gly217Asp					AMBP_uc011lxk.1_Missense_Mutation_p.G158D|AMBP_uc010mvc.1_RNA	p.G217D	NM_001633	NP_001624	P02760	AMBP_HUMAN			7	913	-			217			Glycopeptide (secretory piece).		P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.650G>A	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	C	4.363	0.066798	0.08388	.	.	ENSG00000106927	ENST00000265132;ENST00000540645	T	0.27557	1.66	4.94	2.02	0.26589	.	1.103230	0.06702	N	0.771689	T	0.17323	0.0416	N	0.14661	0.345	0.09310	N	1	P;P	0.34462	0.454;0.454	B;B	0.27380	0.079;0.079	T	0.22277	-1.0221	10	0.34782	T	0.22	.	8.376	0.32442	0.0:0.3347:0.5066:0.1587	.	158;217	B7Z8R6;P02760	.;AMBP_HUMAN	D	217;158	ENSP00000265132:G217D	ENSP00000265132:G217D	G	-	2	0	AMBP	115864813	0.003000	0.15002	0.013000	0.15412	0.093000	0.18481	1.368000	0.34216	0.255000	0.21593	-1.113000	0.02065	GGT		0.542	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		17	66	0	0	0	0.007413	0	17	66				
STXBP1	6812	broad.mit.edu	37	9	130430376	130430376	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:130430376T>C	ENST00000373299.1	+	10	927	c.812T>C	c.(811-813)aTc>aCc	p.I271T	STXBP1_ENST00000373302.3_Missense_Mutation_p.I271T	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	271					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						ACCAGCGGCATCGGGGAGGCA	0.587																																							uc004brl.2		NA																	0				skin(1)	1						c.(811-813)ATC>ACC		syntaxin binding protein 1 isoform b							87.0	77.0	80.0					9																	130430376		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130430376T>C	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.812T>C	9.37:g.130430376T>C	ENSP00000362396:p.Ile271Thr					STXBP1_uc004brk.2_Missense_Mutation_p.I271T	p.I271T	NM_001032221	NP_001027392	P61764	STXB1_HUMAN			10	1009	+			271					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.812T>C	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	T	9.069	0.996488	0.19043	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.76709	-1.04;-1.04	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.66626	0.2808	L	0.31664	0.95	0.80722	D	1	B;B	0.13594	0.008;0.007	B;B	0.19666	0.026;0.009	T	0.61446	-0.7061	10	0.12103	T	0.63	-8.8515	14.3573	0.66745	0.0:0.0:0.0:1.0	.	271;271	P61764;P61764-2	STXB1_HUMAN;.	T	225;271;103;271	ENSP00000362399:I271T;ENSP00000362396:I271T	ENSP00000362396:I271T	I	+	2	0	STXBP1	129470197	1.000000	0.71417	0.987000	0.45799	0.137000	0.21094	7.751000	0.85126	2.279000	0.76181	0.402000	0.26972	ATC		0.587	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		11	34	0	0	0	0.001368	0	11	34				
TLR8	51311	broad.mit.edu	37	X	12937480	12937480	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:12937480C>A	ENST00000218032.6	+	2	408	c.321C>A	c.(319-321)ccC>ccA	p.P107P	TLR8_ENST00000311912.5_Silent_p.P125P	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	107					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	ACGGAAATCCCGGTATACAAT	0.408																																							uc004cve.2		NA																	0				ovary(4)|lung(2)|large_intestine(1)	7						c.(319-321)CCC>CCA		toll-like receptor 8 precursor							132.0	133.0	133.0					X																	12937480		2203	4300	6503	SO:0001819	synonymous_variant	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12937480C>A	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.321C>A	X.37:g.12937480C>A						TLR8_uc004cvd.2_Silent_p.P125P	p.P107P	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	389	+			107			Extracellular (Potential).		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	c.321C>A	CCDS14152.1																																																																																				0.408	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		19	101	1	0	6.94344e-10	0.006122	9.29313e-10	19	101				
RS1	6247	broad.mit.edu	37	X	18665334	18665334	+	Silent	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:18665334G>T	ENST00000379984.3	-	4	343	c.303C>A	c.(301-303)gcC>gcA	p.A101A	CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	101	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TGTTGAGCCGGGCCTTGTTTG	0.527																																							uc004cyo.2		NA																	0				ovary(2)	2						c.(301-303)GCC>GCA		X-linked juvenile retinoschisis protein							95.0	84.0	88.0					X																	18665334		2203	4300	6503	SO:0001819	synonymous_variant	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18665334G>T	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.303C>A	X.37:g.18665334G>T						CDKL5_uc004cym.2_Intron|CDKL5_uc004cyn.2_Intron	p.A101A	NM_000330	NP_000321	O15537	XLRS1_HUMAN			4	338	-	Hepatocellular(33;0.183)		101			F5/8 type C.		Q0QD39	Silent	SNP	ENST00000379984.3	37	c.303C>A	CCDS14187.1																																																																																				0.527	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			15	56	1	0	2.62699e-14	0.003163	3.68406e-14	15	56				
NONO	4841	broad.mit.edu	37	X	70511691	70511691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:70511691C>T	ENST00000276079.8	+	4	422	c.217C>T	c.(217-219)Cga>Tga	p.R73*	NONO_ENST00000535149.1_5'UTR|NONO_ENST00000373841.1_Nonsense_Mutation_p.R73*|NONO_ENST00000373856.3_Nonsense_Mutation_p.R73*	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	73	DBHS.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CTTCACCCAACGAAGCCGTCT	0.428			T	TFE3	papillary renal cancer																																		uc004dzo.2		NA		Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				ovary(2)|kidney(2)	4						c.(217-219)CGA>TGA		non-POU domain containing, octamer-binding							55.0	52.0	53.0					X																	70511691		2203	4298	6501	SO:0001587	stop_gained	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70511691C>T	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.217C>T	X.37:g.70511691C>T	ENSP00000276079:p.Arg73*					BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Nonsense_Mutation_p.R73*|NONO_uc004dzp.2_Nonsense_Mutation_p.R73*|NONO_uc011mpv.1_Translation_Start_Site|NONO_uc004dzq.2_5'Flank	p.R73*	NM_001145408	NP_001138880	Q15233	NONO_HUMAN			5	927	+	Renal(35;0.156)		73			DBHS.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Nonsense_Mutation	SNP	ENST00000276079.8	37	c.217C>T	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	c	37	6.396617	0.97533	.	.	ENSG00000147140	ENST00000276079;ENST00000373856;ENST00000373841;ENST00000420903;ENST00000413858;ENST00000454976	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0059	10.3719	0.44060	0.3586:0.6414:0.0:0.0	.	.	.	.	X	73	.	ENSP00000276079:R73X	R	+	1	2	NONO	70428416	1.000000	0.71417	0.977000	0.42913	0.990000	0.78478	3.010000	0.49559	2.310000	0.77875	0.523000	0.50628	CGA		0.428	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		4	31	0	0	0	0.000248	0	4	31				
ATRX	546	broad.mit.edu	37	X	76938254	76938254	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:76938254C>A	ENST00000373344.5	-	9	2708	c.2494G>T	c.(2494-2496)Ggt>Tgt	p.G832C	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.G794C	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	832					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTGGcagcaccaattttactc	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(2494-2496)GGT>TGT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						119.0	130.0	126.0					X																	76938254		2202	4291	6493	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938254C>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2494G>T	X.37:g.76938254C>A	ENSP00000362441:p.Gly832Cys					ATRX_uc004ecq.3_Missense_Mutation_p.G794C|ATRX_uc004eco.3_Missense_Mutation_p.G617C|ATRX_uc004ecr.2_Missense_Mutation_p.G764C|ATRX_uc010nlx.1_Missense_Mutation_p.G803C|ATRX_uc010nly.1_Missense_Mutation_p.G777C	p.G832C	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	2726	-			832					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.2494G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	5.259	0.233167	0.09969	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.92752	-3.09;-3.1	5.73	2.86	0.33363	.	0.264218	0.37906	N	0.001890	D	0.92567	0.7639	L	0.53249	1.67	0.09310	N	0.999999	D;D;B;D	0.89917	0.999;1.0;0.013;0.999	D;D;B;D	0.69479	0.936;0.964;0.007;0.936	D	0.84361	0.0538	10	0.72032	D	0.01	-0.3434	3.4453	0.07478	0.1374:0.5815:0.1307:0.1504	.	832;764;794;832	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	C	832;794;759	ENSP00000362441:G832C;ENSP00000378967:G794C	ENSP00000362441:G832C	G	-	1	0	ATRX	76824910	0.003000	0.15002	0.847000	0.33407	0.738000	0.42128	1.206000	0.32321	0.573000	0.29400	0.466000	0.42574	GGT		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		11	185	1	0	0.000978159	0.000978	0.0011179	11	185				
TEX13B	56156	broad.mit.edu	37	X	107224449	107224449	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:107224449C>T	ENST00000302917.1	-	3	892	c.800G>A	c.(799-801)tGt>tAt	p.C267Y		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	267										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GGGAGCTGGACAGGAAGAGGC	0.537																																							uc004enn.1		NA																	0				ovary(1)	1						c.(799-801)TGT>TAT		testis expressed 13B							172.0	147.0	156.0					X																	107224449		2199	4300	6499	SO:0001583	missense	56156							g.chrX:107224449C>T	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.800G>A	X.37:g.107224449C>T	ENSP00000303777:p.Cys267Tyr						p.C267Y	NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN			3	893	-			267					Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	37	c.800G>A	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465168	0.43839	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.61	0.809	0.18725	.	.	.	.	.	T	0.22898	0.0553	L	0.29908	0.895	0.23747	N	0.996954	P	0.34639	0.461	B	0.33339	0.162	T	0.15093	-1.0449	8	0.51188	T	0.08	.	5.0799	0.14651	0.0:0.5513:0.0:0.4487	.	267	Q9BXU2	TX13B_HUMAN	Y	267	.	ENSP00000303777:C267Y	C	-	2	0	TEX13B	107111105	0.982000	0.34865	0.606000	0.28943	0.797000	0.45037	0.413000	0.21148	0.037000	0.15575	-0.198000	0.12761	TGT		0.537	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			21	127	0	0	0	0.001882	0	21	127				
TRPC5	7224	broad.mit.edu	37	X	111078148	111078148	+	Splice_Site	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:111078148C>T	ENST00000262839.2	-	7	2815		c.e7+1			NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5						axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAGCTACTCACGGCAATAAGC	0.448																																							uc004epl.1		NA																	0				urinary_tract(1)	1						c.e7+1		transient receptor potential cation channel,							195.0	152.0	166.0					X																	111078148		2203	4300	6503	SO:0001630	splice_region_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111078148C>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1896+1G>A	X.37:g.111078148C>T						TRPC5_uc004epm.1_Splice_Site_p.A632_splice	p.A632_splice	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			7	2815	-								B2RP53|O75233|Q5JXY8|Q9Y514	Splice_Site	SNP	ENST00000262839.2	37	c.1896_splice	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047627	0.93740	.	.	ENSG00000072315	ENST00000262839	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7427	0.91780	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPC5	110964804	1.000000	0.71417	0.957000	0.39632	0.985000	0.73830	7.773000	0.85462	2.371000	0.80710	0.544000	0.68410	.		0.448	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471	Intron	29	127	0	0	0	0.00632	0	29	127				
NDUFA1	4694	broad.mit.edu	37	X	119007299	119007299	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:119007299G>C	ENST00000371437.4	+	2	560	c.135G>C	c.(133-135)tgG>tgC	p.W45C	RNF113A_ENST00000371442.2_5'Flank	NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	45					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5						GGTATCACTGGAGTCTGATGG	0.408																																							uc004esc.3		NA																	0				large_intestine(1)	1						c.(133-135)TGG>TGC		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						176.0	152.0	160.0					X																	119007299		2203	4300	6503	SO:0001583	missense	4694				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrX:119007299G>C		CCDS14590.1	Xq24	2011-07-04	2002-08-29		ENSG00000125356	ENSG00000125356		"""Mitochondrial respiratory chain complex / Complex I"""	7683	protein-coding gene	gene with protein product	"""NADH:ubiquinone oxidoreductase (complex 1)"", ""type I dehydrogenase"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"", ""complex I MWFE subunit"""	300078	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"""			8938439	Standard	NM_004541		Approved	MWFE, CI-MWFE	uc004esc.4	O15239	OTTHUMG00000022287	ENST00000371437.4:c.135G>C	X.37:g.119007299G>C	ENSP00000360492:p.Trp45Cys					RNF113A_uc004esb.2_5'Flank	p.W45C	NM_004541	NP_004532	O15239	NDUA1_HUMAN			2	276	+			45						Missense_Mutation	SNP	ENST00000371437.4	37	c.135G>C	CCDS14590.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416841	0.25552	.	.	ENSG00000125356	ENST00000371437	T	0.75938	-0.98	4.88	4.88	0.63580	.	0.120590	0.64402	D	0.000010	D	0.85669	0.5750	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87592	0.2491	9	0.87932	D	0	-16.172	12.5458	0.56199	0.0:0.0:1.0:0.0	.	45	O15239	NDUA1_HUMAN	C	45	ENSP00000360492:W45C	ENSP00000360492:W45C	W	+	3	0	NDUFA1	118891327	1.000000	0.71417	0.133000	0.22050	0.033000	0.12548	6.058000	0.71126	2.011000	0.59026	0.513000	0.50165	TGG		0.408	NDUFA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058080.1	NM_004541		10	52	0	0	0	0.001368	0	10	52				
STAG2	10735	broad.mit.edu	37	X	123179212	123179212	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:123179212C>A	ENST00000371160.1	+	8	951	c.661C>A	c.(661-663)Ctg>Atg	p.L221M	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.L221M|STAG2_ENST00000371157.3_Missense_Mutation_p.L221M|STAG2_ENST00000371144.3_Missense_Mutation_p.L221M|STAG2_ENST00000371145.3_Missense_Mutation_p.L221M|STAG2_ENST00000354548.5_Missense_Mutation_p.L152M	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	221					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TACAAGCACCCTGGCAGGTCG	0.328																																							uc004etz.3		NA																	0				ovary(4)|skin(1)	5						c.(661-663)CTG>ATG		stromal antigen 2 isoform b							110.0	105.0	107.0					X																	123179212		2203	4299	6502	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123179212C>A	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.661C>A	X.37:g.123179212C>A	ENSP00000360202:p.Leu221Met					STAG2_uc004eua.2_Missense_Mutation_p.L221M|STAG2_uc004eub.2_Missense_Mutation_p.L221M|STAG2_uc004euc.2_Missense_Mutation_p.L221M|STAG2_uc004eud.2_Missense_Mutation_p.L221M|STAG2_uc004eue.2_Missense_Mutation_p.L221M	p.L221M	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			7	1000	+			221					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.661C>A	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622657	0.66787	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	4.95	2.75	0.32379	STAG (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.68274	0.2983	M	0.88181	2.935	0.52501	D	0.999958	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.68823	-0.5307	10	0.48119	T	0.1	-6.2967	8.0108	0.30353	0.0:0.6781:0.0:0.3219	.	221;221	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	M	221;221;152;221;221;221;221	ENSP00000218089:L221M;ENSP00000397265:L221M;ENSP00000346555:L152M;ENSP00000360202:L221M;ENSP00000360199:L221M;ENSP00000360187:L221M;ENSP00000360186:L221M	ENSP00000218089:L221M	L	+	1	2	STAG2	123006893	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	0.744000	0.26245	0.982000	0.38575	0.422000	0.28245	CTG		0.328	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		20	99	1	0	1.96292e-10	0.001523	2.65749e-10	20	99				
RP1-274L7.1	0	broad.mit.edu	37	X	129629658	129629658	+	lincRNA	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:129629658G>A	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							CTTACACACAGCACTGATGCT	0.483																																							uc010nrh.2		NA																	0				skin(1)	1						c.(526-528)GCA>ACA		hypothetical protein LOC404636							90.0	84.0	86.0					X																	129629658		2203	4298	6501			55855							g.chrX:129629658G>A																													X.37:g.129629658G>A						uc004evu.2_Intron	p.A176T	NM_207009	NP_996892				all cancers(201;0.0293)	1	744	+									Missense_Mutation	SNP	ENST00000458525.1	37	c.526G>A																																																																																					0.483	RP1-274L7.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000058271.1			11	46	0	0	0	0.003163	0	11	46				
GPR112	139378	broad.mit.edu	37	X	135455108	135455108	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:135455108G>T	ENST00000394143.1	+	15	7952	c.7661G>T	c.(7660-7662)gGg>gTg	p.G2554V	GPR112_ENST00000412101.1_Missense_Mutation_p.G2349V|GPR112_ENST00000287534.4_Missense_Mutation_p.G2352V|GPR112_ENST00000394141.1_Missense_Mutation_p.G2349V|GPR112_ENST00000370652.1_Missense_Mutation_p.G2554V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2554					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)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAGTTTTCTGGGCAGATAGCA	0.488																																							uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(7660-7662)GGG>GTG		G-protein coupled receptor 112							232.0	208.0	216.0					X																	135455108		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135455108G>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7661G>T	X.37:g.135455108G>T	ENSP00000377699:p.Gly2554Val					GPR112_uc010nsb.1_Missense_Mutation_p.G2349V	p.G2554V	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			15	7952	+	Acute lymphoblastic leukemia(192;0.000127)		2554			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.7661G>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161491	0.38119	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.30981	1.54;1.54;1.51;1.66;1.51	5.02	5.02	0.67125	.	.	.	.	.	T	0.42944	0.1225	L	0.27053	0.805	0.26830	N	0.968598	D;D	0.89917	1.0;0.994	D;D	0.87578	0.998;0.958	T	0.30592	-0.9973	9	0.87932	D	0	.	13.0246	0.58808	0.0:0.0:1.0:0.0	.	2349;2554	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	V	2554;2554;2349;2352;2349	ENSP00000377699:G2554V;ENSP00000359686:G2554V;ENSP00000416526:G2349V;ENSP00000287534:G2352V;ENSP00000377697:G2349V	ENSP00000287534:G2352V	G	+	2	0	GPR112	135282774	0.983000	0.35010	0.052000	0.19188	0.172000	0.22775	2.422000	0.44696	2.223000	0.72356	0.594000	0.82650	GGG		0.488	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			7	222	1	0	0.00198382	0.001984	0.00224535	7	222				
F9	2158	broad.mit.edu	37	X	138643931	138643931	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:138643931G>C	ENST00000218099.2	+	8	1094	c.1087G>C	c.(1087-1089)Ggg>Cgg	p.G363R	F9_ENST00000394090.2_Missense_Mutation_p.G325R	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	363	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		G -> W (in HEMB).		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	CTTCCACAAAGGGAGATCAGC	0.428																																							uc004fas.1		NA																	0				lung(2)|ovary(1)	3	GRCh37	CM940648|CM990577	F9	M		c.(1087-1089)GGG>CGG		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						146.0	120.0	129.0					X																	138643931		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138643931G>C	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.1087G>C	X.37:g.138643931G>C	ENSP00000218099:p.Gly363Arg					F9_uc004fat.1_Missense_Mutation_p.G325R	p.G363R	NM_000133	NP_000124	P00740	FA9_HUMAN			8	1116	+	Acute lymphoblastic leukemia(192;0.000127)		363		G -> W (in HEMB).	Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.1087G>C	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611606	0.66558	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.90385	-2.66;-2.66	5.66	5.66	0.87406	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.94735	0.8301	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.98	D;P	0.97110	1.0;0.862	D	0.94705	0.7887	10	0.54805	T	0.06	.	17.5372	0.87835	0.0:0.0:1.0:0.0	.	325;363	Q5FBE1;P00740	.;FA9_HUMAN	R	363;325	ENSP00000218099:G363R;ENSP00000377650:G325R	ENSP00000218099:G363R	G	+	1	0	F9	138471597	1.000000	0.71417	0.869000	0.34112	0.360000	0.29518	7.355000	0.79434	2.356000	0.79943	0.600000	0.82982	GGG		0.428	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			5	96	0	0	0	0.000602	0	5	96				
MAGEC1	9947	broad.mit.edu	37	X	140995417	140995417	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:140995417C>A	ENST00000285879.4	+	4	2513	c.2227C>A	c.(2227-2229)Cct>Act	p.P743T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	743										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGAGTCCTGTGAGTAT	0.557										HNSCC(15;0.026)																													uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2227-2229)CCT>ACT		melanoma antigen family C, 1							132.0	142.0	138.0					X																	140995417		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995417C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2227C>A	X.37:g.140995417C>A	ENSP00000285879:p.Pro743Thr	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.P743T	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2513	+	Acute lymphoblastic leukemia(192;6.56e-05)		743					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2227C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	11.88	1.769940	0.31320	.	.	ENSG00000155495	ENST00000285879	T	0.03689	3.84	1.03	1.03	0.20045	.	.	.	.	.	T	0.04048	0.0113	N	0.19112	0.55	0.54753	D	0.999982	P	0.48350	0.909	P	0.50440	0.641	T	0.54248	-0.8322	9	0.87932	D	0	.	5.2912	0.15727	0.0:0.6367:0.3632:0.0	.	743	O60732	MAGC1_HUMAN	T	743	ENSP00000285879:P743T	ENSP00000285879:P743T	P	+	1	0	MAGEC1	140823083	0.970000	0.33590	0.050000	0.19076	0.050000	0.14768	0.474000	0.22148	0.288000	0.22398	0.292000	0.19580	CCT		0.557	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		48	202	1	0	8.00217e-19	0.00361	1.13579e-18	48	202				
MAGEC2	51438	broad.mit.edu	37	X	141291161	141291161	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:141291161A>G	ENST00000247452.3	-	3	960	c.613T>C	c.(613-615)Ttc>Ctc	p.F205L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	205	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AACACACAGAAGTGGTCAGGG	0.478										HNSCC(46;0.14)																													uc004fbu.1		NA																	0				breast(2)	2						c.(613-615)TTC>CTC		melanoma antigen family C, 2							111.0	104.0	106.0					X																	141291161		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291161A>G	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.613T>C	X.37:g.141291161A>G	ENSP00000354660:p.Phe205Leu	HNSCC(46;0.14)					p.F205L	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	961	-	Acute lymphoblastic leukemia(192;6.56e-05)		205			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.613T>C	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	6.462	0.453383	0.12283	.	.	ENSG00000046774	ENST00000247452	T	0.04275	3.66	0.988	0.988	0.19796	.	2.722080	0.02290	U	0.070170	T	0.01695	0.0054	N	0.00885	-1.115	0.09310	N	1	B	0.17667	0.023	B	0.14578	0.011	T	0.40961	-0.9535	10	0.13108	T	0.6	.	3.916	0.09224	1.0:0.0:0.0:0.0	.	205	Q9UBF1	MAGC2_HUMAN	L	205	ENSP00000354660:F205L	ENSP00000354660:F205L	F	-	1	0	MAGEC2	141118827	0.000000	0.05858	0.010000	0.14722	0.091000	0.18340	-0.355000	0.07671	0.635000	0.30488	0.235000	0.17854	TTC		0.478	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		27	120	0	0	0	0.003954	0	27	120				
FLNA	2316	broad.mit.edu	37	X	153577354	153577355	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:153577354_153577355CC>AA	ENST00000369850.3	-	48	8042_8043	c.7806_7807GG>TT	c.(7804-7809)gaGGag>gaTTag	p.2602_2603EE>D*	FLNA_ENST00000369856.3_Nonsense_Mutation_p.735_736EE>D*|FLNA_ENST00000360319.4_Nonsense_Mutation_p.2594_2595EE>D*|FLNA_ENST00000422373.1_Nonsense_Mutation_p.2594_2595EE>D*|FLNA_ENST00000344736.4_Nonsense_Mutation_p.2562_2563EE>D*|FLNA_ENST00000498491.1_5'UTR	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2602	Self-association site, tail.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCAGGATCTCCTCGCAGGGGG	0.634																																							uc004fkk.2		NA																	0				breast(6)	6						c.(7804-7809)GAGGAG>GATTAG		filamin A, alpha isoform 2																																				SO:0001587	stop_gained	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153577354_153577355CC>AA	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.7806_7807delinsAA	X.37:g.153577354_153577355delinsAA	ENSP00000358866:p.E2602_E2603delinsD*					FLNA_uc004fki.2_Nonsense_Mutation_p.642_643EE>D*|FLNA_uc011mzn.1_Nonsense_Mutation_p.735_736EE>D*|FLNA_uc010nuu.1_Nonsense_Mutation_p.2594_2595EE>D*	p.2602_2603EE>D*	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			48	8055_8056	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2602_2603			Self-association site, tail.|Filamin 24.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Nonsense_Mutation	DNP	ENST00000369850.3	37	c.7806_7807GG>TT	CCDS48194.1																																																																																				0.634	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			9	26	0	0	0	0.004672	0	9	26				
BRCC3	79184	broad.mit.edu	37	X	154348404	154348404	+	Silent	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:154348404A>G	ENST00000369462.1	+	11	955	c.930A>G	c.(928-930)caA>caG	p.Q310Q	BRCC3_ENST00000369459.2_Silent_p.Q241Q|BRCC3_ENST00000330045.7_Silent_p.Q285Q|BRCC3_ENST00000340647.4_Silent_p.Q286Q|BRCC3_ENST00000399042.1_Silent_p.Q311Q|MTCP1_ENST00000362018.2_Intron	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	310					double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCTTATGCAAGAACTTTCTT	0.418																																							uc004fna.2		NA																	0				lung(3)|ovary(1)|large_intestine(1)|breast(1)	6						c.(928-930)CAA>CAG		BRCA1/BRCA2-containing complex, subunit 3							86.0	83.0	84.0					X																	154348404		1933	4130	6063	SO:0001819	synonymous_variant	79184				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:154348404A>G	X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"""Lys-63-specific deubiquitinase"""	300617	"""chromosome X open reading frame 53"""	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.930A>G	X.37:g.154348404A>G						BRCC3_uc004fnb.2_Silent_p.Q285Q	p.Q310Q	NM_024332	NP_077308	P46736	BRCC3_HUMAN			11	1023	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		310					A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Silent	SNP	ENST00000369462.1	37	c.930A>G	CCDS56611.1																																																																																				0.418	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332		11	49	0	0	0	0.001855	0	11	49				
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome																														uc001fes.2		NA																	0					0						c.(106-108)GAAdel		HCLS1 associated protein X-1 isoform a			,	145,4121		1,143,1989					,	-10.8	0.2			60	303,7951		0,303,3824	no	coding,intron	HAX1	NM_006118.3,NM_001018837.1	,	1,446,5813	A1A1,A1R,RR		3.6709,3.399,3.5783	,	,		448,12072				SO:0001651	inframe_deletion	10456	Kostmann_syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245864_154245866delGAA	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.106_108delGAA	1.37:g.154245873_154245875delGAA	ENSP00000329002:p.Glu40del					HAX1_uc001fet.2_Intron|HAX1_uc010peo.1_In_Frame_Del_p.E40del|HAX1_uc009wou.2_5'UTR|HAX1_uc009wov.2_In_Frame_Del_p.E14del	p.E40del	NM_006118	NP_006109	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	267_269	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		40			Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	In_Frame_Del	DEL	ENST00000328703.7	37	c.106_108delGAA	CCDS1064.1																																																																																				0.522	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		7	85	NA	NA	NA	NA	NA	7	85	---	---	---	---
HTR3A	3359	broad.mit.edu	37	11	113857333	113857333	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:113857333delC	ENST00000504030.2	+	7	1244	c.799delC	c.(799-801)cccfs	p.P268fs	HTR3A_ENST00000506841.2_Frame_Shift_Del_p.P268fs|HTR3A_ENST00000355556.2_Frame_Shift_Del_p.P274fs|HTR3A_ENST00000535865.1_Frame_Shift_Del_p.P12fs|HTR3A_ENST00000299961.5_Frame_Shift_Del_p.P253fs|HTR3A_ENST00000375498.2_Frame_Shift_Del_p.P274fs			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	268					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CTTCTACCTGCCCCCCAACAG	0.592																																							uc010rxb.1		NA																	0					0						c.(817-819)CCCfs		5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						85.0	74.0	77.0					11																	113857333		2201	4296	6497	SO:0001589	frameshift_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857333delC	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.799delC	11.37:g.113857333delC	ENSP00000424189:p.Pro268fs					HTR3A_uc010rxa.1_Frame_Shift_Del_p.P273fs|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Frame_Shift_Del_p.P252fs	p.P273fs	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1050	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	267			Helical; Name=1; (Potential).		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Frame_Shift_Del	DEL	ENST00000504030.2	37	c.817delC																																																																																					0.592	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		8	45	NA	NA	NA	NA	NA	8	45	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22154074	22154074	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:22154074delT	ENST00000397126.4	-	4	3910	c.3762delA	c.(3760-3762)aaafs	p.K1254fs	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTCTTCACATTTGTAGGGTT	0.383																																							uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(3376-3378)AAAfs		zinc finger protein 208							41.0	44.0	43.0					19																	22154074		2105	4238	6343	SO:0001589	frameshift_variant	7757							g.chr19:22154074delT	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3762delA	19.37:g.22154074delT	ENSP00000380315:p.Lys1254fs					ZNF208_uc002nqo.1_Intron	p.K1126fs	NM_007153	NP_009084					6	3527	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Frame_Shift_Del	DEL	ENST00000397126.4	37	c.3378delA	CCDS54240.1																																																																																				0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		13	42	NA	NA	NA	NA	NA	13	42	---	---	---	---
MED25	81857	broad.mit.edu	37	19	50333452	50333452	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:50333452delC	ENST00000312865.6	+	7	849	c.796delC	c.(796-798)cccfs	p.P267fs	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	267	Pro-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCAGCCTCTGCCCCCCGTCCC	0.662																																					GBM(51;894 1657 37868)	GBM(51;894 1657 37868)	uc002ppw.1		NA																	0				ovary(1)	1						c.(796-798)CCCfs		mediator complex subunit 25							14.0	18.0	17.0					19																	50333452		2158	4257	6415	SO:0001589	frameshift_variant	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50333452delC	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.796delC	19.37:g.50333452delC	ENSP00000326767:p.Pro267fs					MED25_uc010ybe.1_Intron|MED25_uc002ppx.1_Frame_Shift_Del_p.P47fs	p.P266fs	NM_030973	NP_112235	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	7	849	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	266			Pro-rich.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Frame_Shift_Del	DEL	ENST00000312865.6	37	c.796delC	CCDS33075.1																																																																																				0.662	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		16	21	NA	NA	NA	NA	NA	16	21	---	---	---	---
NDUFA6	4700	broad.mit.edu	37	22	42486758	42486758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr22:42486758delG	ENST00000498737.2	-	1	201	c.69delC	c.(67-69)tgcfs	p.C23fs	NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|RP1-257I20.14_ENST00000602718.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000608974.1_RNA|NDUFA6_ENST00000602404.1_5'UTR|NDUFA6-AS1_ENST00000439129.1_RNA	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	23					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						TCTTGCCAAAGCATCCACTCC	0.612											OREG0026602	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003bcb.2		NA																	0					0						c.(67-69)TGCfs		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						94.0	100.0	98.0					22																	42486758		2203	4300	6503	SO:0001589	frameshift_variant	4700				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr22:42486758delG	AF047182	CCDS33656.1	22q13.2	2010-05-07	2002-08-29		ENSG00000184983	ENSG00000184983		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7690	protein-coding gene	gene with protein product	"""complex I B14 subunit"""	602138	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (14kD, B14)"""			9763676, 9425316	Standard	NM_002490		Approved	B14, LYRM6, CI-B14, NADHB14	uc003bcb.3	P56556	OTTHUMG00000151287	ENST00000498737.2:c.69delC	22.37:g.42486758delG	ENSP00000418842:p.Cys23fs		OREG0026602	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	909	uc003bcc.1_5'Flank|uc003bcd.1_5'Flank	p.C23fs	NM_002490	NP_002481	P56556	NDUA6_HUMAN			1	131	-			23					B2RE54|O43675|Q6FGW0|Q6IBT8|Q6IC39	Frame_Shift_Del	DEL	ENST00000498737.2	37	c.69delC	CCDS33656.1																																																																																				0.612	NDUFA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322089.4	NM_002490		46	165	NA	NA	NA	NA	NA	46	165	---	---	---	---
HLA-A	3105	broad.mit.edu	37	6	29911171	29911171	+	Frame_Shift_Del	DEL	G	G	-	rs199474533		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:29911171delG	ENST00000396634.1	+	5	811	c.470delG	c.(469-471)tggfs	p.W157fs	HLA-A_ENST00000376806.5_Frame_Shift_Del_p.W157fs|HLA-A_ENST00000376809.5_Frame_Shift_Del_p.W157fs|HLA-A_ENST00000376802.2_Frame_Shift_Del_p.W157fs			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	157	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CTGCGCTCTTGGACCGCGGCG	0.677									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																													uc003nol.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(469-471)TGGfs		major histocompatibility complex, class I, A							45.0	32.0	37.0					6																	29911171		1508	2707	4215	SO:0001589	frameshift_variant	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29911171delG	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.470delG	6.37:g.29911171delG	ENSP00000379873:p.Trp157fs	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_RNA|HLA-A_uc010jrq.2_Frame_Shift_Del_p.W36fs|HLA-A_uc003nok.2_Frame_Shift_Del_p.W36fs|HLA-A_uc003non.2_Frame_Shift_Del_p.W157fs|HLA-A_uc003noo.2_Frame_Shift_Del_p.W157fs|HLA-A_uc010jrr.2_Frame_Shift_Del_p.W157fs|HLA-A_uc003nom.2_Frame_Shift_Del_p.W36fs|HLA-A_uc010klp.2_Frame_Shift_Del_p.W129fs|HLA-A_uc011dmc.1_Frame_Shift_Del_p.W36fs|HLA-A_uc011dmd.1_Frame_Shift_Del_p.W36fs	p.W157fs	NM_002116	NP_002107	P30443	1A01_HUMAN			3	470	+			157			Extracellular (Potential).|Alpha-2.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Frame_Shift_Del	DEL	ENST00000396634.1	37	c.470delG	CCDS34373.1																																																																																				0.677	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		9	67	NA	NA	NA	NA	NA	9	67	---	---	---	---
FOXD4L5	653427	broad.mit.edu	37	9	70177785	70177785	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:70177785delC	ENST00000377420.1	-	1	1030	c.199delG	c.(199-201)gttfs	p.V67fs		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	67					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|lung(2)	7						GGAAGCGCAACCCCGCCCCAC	0.677																																							uc010moc.2		NA																	0					0						c.(199-201)GTTfs		forkhead box D4-like 5							15.0	47.0	37.0					9																	70177785		329	693	1022	SO:0001589	frameshift_variant	653427				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:70177785delC		CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.199delG	9.37:g.70177785delC	ENSP00000366637:p.Val67fs						p.V67fs	NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN			1	1031	-			67						Frame_Shift_Del	DEL	ENST00000377420.1	37	c.199delG	CCDS47977.1																																																																																				0.677	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037122.1	NM_001126334		7	113	NA	NA	NA	NA	NA	7	113	---	---	---	---
