#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
C1orf159	54991	broad.mit.edu	37	1	1019467	1019467	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:1019467C>T	ENST00000379339.1	-	11	1086	c.876G>A	c.(874-876)gaG>gaA	p.E292E	C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000482816.1_Splice_Site|C1orf159_ENST00000294576.5_Silent_p.E256E|C1orf159_ENST00000448924.1_Silent_p.E292E|C1orf159_ENST00000379320.1_Silent_p.E256E|C1orf159_ENST00000379319.1_Intron			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	292						integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GACCCCACGTCTCGGGAACAG	0.647																																						uc001act.2		NA																	0					0						c.(874-876)GAG>GAA		hypothetical protein LOC54991							23.0	28.0	27.0					1																	1019467		2198	4298	6496	SO:0001819	synonymous_variant	54991					integral to membrane		g.chr1:1019467C>T	AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.876G>A	1.37:g.1019467C>T						C1orf159_uc001acu.2_Intron|C1orf159_uc001acr.2_Splice_Site|C1orf159_uc001acs.2_Splice_Site|C1orf159_uc010nyd.1_Splice_Site|C1orf159_uc001acm.2_Intron|C1orf159_uc009vju.1_Intron|C1orf159_uc001acn.2_Silent_p.E256E|C1orf159_uc001acp.2_Intron	p.E292E	NM_017891	NP_060361	Q96HA4	CA159_HUMAN		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	11	1362	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	292					B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Silent	SNP	ENST00000379339.1	37	c.876G>A		.	.	.	.	.	.	.	.	.	.	.	3.169	-0.170383	0.06461	.	.	ENSG00000131591	ENST00000457999	.	.	.	2.85	0.839	0.18907	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9035	0.35510	0.0:0.5052:0.4948:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C1orf159	1009330	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.570000	0.05895	0.085000	0.17107	-0.264000	0.10439	.		0.647	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	NM_017891		3	23	0	0	0	0	3	23				
TAS1R3	83756	broad.mit.edu	37	1	1268701	1268701	+	Missense_Mutation	SNP	C	C	G	rs200580453		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:1268701C>G	ENST00000339381.5	+	5	1574	c.1542C>G	c.(1540-1542)ttC>ttG	p.F514L		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	514					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		TCAAGGGGTTCCACTCCTGCT	0.711													c|||	1	0.000199681	0.0	0.0	5008	,	,		13884	0.001		0.0	False		,,,				2504	0.0					uc010nyk.1		NA																	0					0						c.(1540-1542)TTC>TTG		taste receptor, type 1, member 3 precursor	Aspartame(DB00168)																																			SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1268701C>G	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1542C>G	1.37:g.1268701C>G	ENSP00000344411:p.Phe514Leu						p.F514L	NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	5	1542	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	514			Extracellular (Potential).		Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.1542C>G	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210056	0.79240	.	.	ENSG00000169962	ENST00000339381	D	0.89415	-2.51	4.42	3.49	0.39957	GPCR, family 3, nine cysteines domain (1);	0.000000	0.64402	U	0.000008	D	0.89722	0.6797	L	0.49513	1.565	0.43902	D	0.996538	D	0.71674	0.998	D	0.70487	0.969	D	0.85704	0.1315	10	0.07644	T	0.81	.	9.8038	0.40781	0.0:0.9012:0.0:0.0988	.	514	Q7RTX0	TS1R3_HUMAN	L	514	ENSP00000344411:F514L	ENSP00000344411:F514L	F	+	3	2	TAS1R3	1258564	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.656000	0.37355	0.828000	0.34709	0.456000	0.33151	TTC		0.711	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			4	8	0	0	0	0	4	8				
PLCH2	9651	broad.mit.edu	37	1	2428128	2428128	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:2428128G>A	ENST00000419816.2	+	14	2192	c.1918G>A	c.(1918-1920)Gac>Aac	p.D640N	PLCH2_ENST00000378486.3_Missense_Mutation_p.D640N|PLCH2_ENST00000449969.1_Missense_Mutation_p.D613N|PLCH2_ENST00000288766.5_Intron|RP3-395M20.3_ENST00000442305.1_RNA|PLCH2_ENST00000378488.3_Missense_Mutation_p.D640N			O75038	PLCH2_HUMAN	phospholipase C, eta 2	640	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGCCACCCACGACATAGAGAT	0.682																																						uc001aji.1		NA																	0				central_nervous_system(3)|ovary(1)|skin(1)	5						c.(1918-1920)GAC>AAC		phospholipase C, eta 2							22.0	26.0	24.0					1																	2428128		1938	4125	6063	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2428128G>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1918G>A	1.37:g.2428128G>A	ENSP00000389803:p.Asp640Asn					PLCH2_uc010nyz.1_Missense_Mutation_p.D428N|PLCH2_uc009vle.1_Missense_Mutation_p.D428N|PLCH2_uc001ajj.1_Missense_Mutation_p.D428N|PLCH2_uc001ajk.1_Missense_Mutation_p.D428N|PLCH2_uc001ajl.1_5'Flank	p.D640N	NM_014638	NP_055453	O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	14	2192	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	640			PI-PLC Y-box.		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.1918G>A		.	.	.	.	.	.	.	.	.	.	G	16.28	3.080123	0.55753	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.52057	0.68;0.68;0.68	4.57	3.66	0.41972	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.102221	0.39544	N	0.001322	T	0.58552	0.2130	L	0.45285	1.41	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.983;0.989;0.999;0.983	T	0.57831	-0.7743	10	0.51188	T	0.08	.	11.9333	0.52860	0.0854:0.0:0.9146:0.0	.	487;428;613;640	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	N	613;640;640;487;428	ENSP00000397289:D613N;ENSP00000367747:D640N;ENSP00000367749:D640N	ENSP00000278878:D428N	D	+	1	0	PLCH2	2417988	1.000000	0.71417	0.951000	0.38953	0.010000	0.07245	7.201000	0.77847	0.923000	0.37045	-0.224000	0.12420	GAC		0.682	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		4	14	0	0	0	0	4	14				
CEP104	9731	broad.mit.edu	37	1	3756183	3756183	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:3756183C>G	ENST00000378230.3	-	7	1048	c.724G>C	c.(724-726)Gat>Cat	p.D242H	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	242						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TTTTGCAAATCAGCAATGGCT	0.348																																						uc001aky.2		NA																	0					0						c.(724-726)GAT>CAT		glycine-, glutamate-,							163.0	159.0	161.0					1																	3756183		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3756183C>G	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.724G>C	1.37:g.3756183C>G	ENSP00000367476:p.Asp242His					KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.D242H	p.D242H	NM_014704	NP_055519	O60308	CE104_HUMAN		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)	7	1083	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)	242			Potential.		Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.724G>C	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032798	0.75504	.	.	ENSG00000116198	ENST00000378230;ENST00000428079	T	0.33438	1.41	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.54854	0.1884	M	0.66506	2.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.54728	-0.8250	10	0.46703	T	0.11	.	17.4113	0.87486	0.0:1.0:0.0:0.0	.	242;242	O60308-3;O60308	.;CE104_HUMAN	H	242;184	ENSP00000367476:D242H	ENSP00000367476:D242H	D	-	1	0	CEP104	3746043	1.000000	0.71417	0.649000	0.29536	0.976000	0.68499	7.344000	0.79328	2.346000	0.79739	0.561000	0.74099	GAT		0.348	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		14	89	0	0	0	0	14	89				
PRAMEF2	65122	broad.mit.edu	37	1	12918895	12918895	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:12918895G>C	ENST00000240189.2	+	2	118	c.31G>C	c.(31-33)Gag>Cag	p.E11Q		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	11					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGACTACTGGAGCTGGCGGG	0.557																																						uc001aum.1		NA																	0					0						c.(31-33)GAG>CAG		PRAME family member 2							86.0	97.0	93.0					1																	12918895		2201	4297	6498	SO:0001583	missense	65122							g.chr1:12918895G>C		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.31G>C	1.37:g.12918895G>C	ENSP00000240189:p.Glu11Gln						p.E11Q	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	118	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	11						Missense_Mutation	SNP	ENST00000240189.2	37	c.31G>C	CCDS149.1	.	.	.	.	.	.	.	.	.	.	g	1.809	-0.475217	0.04414	.	.	ENSG00000120952	ENST00000240189	T	0.05199	3.48	0.842	-1.68	0.08212	.	1.155080	0.06452	N	0.727878	T	0.06735	0.0172	L	0.46947	1.48	0.09310	N	1	B	0.06786	0.001	B	0.26202	0.067	T	0.44742	-0.9308	10	0.28530	T	0.3	.	3.7488	0.08558	0.2185:0.4999:0.2816:0.0	.	11	O60811	PRAM2_HUMAN	Q	11	ENSP00000240189:E11Q	ENSP00000240189:E11Q	E	+	1	0	PRAMEF2	12841482	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.474000	0.06607	-1.808000	0.01234	-1.045000	0.02358	GAG		0.557	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		35	148	0	0	0	0	35	148				
DDI2	84301	broad.mit.edu	37	1	15983119	15983119	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:15983119G>A	ENST00000480945.1	+	9	1362	c.1191G>A	c.(1189-1191)caG>caA	p.Q397Q		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	397							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CAGAGCGTCAGAAGCCATGAT	0.458																																						uc001awx.1		NA																	0					0						c.(1189-1191)CAG>CAA		DNA-damage inducible protein 2							283.0	243.0	256.0					1																	15983119		2203	4300	6503	SO:0001819	synonymous_variant	84301				proteolysis		aspartic-type endopeptidase activity	g.chr1:15983119G>A		CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.1191G>A	1.37:g.15983119G>A						DDI2_uc009voj.1_Silent_p.Q138Q	p.Q397Q	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	9	1287	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	397					A8KAE1|Q7RTZ0|Q9BRT1	Silent	SNP	ENST00000480945.1	37	c.1191G>A	CCDS30607.1																																																																																				0.458	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341		39	93	0	0	0	0	39	93				
RSG1	79363	broad.mit.edu	37	1	16563180	16563180	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:16563180C>T	ENST00000375599.3	-	1	477	c.58G>A	c.(58-60)Gag>Aag	p.E20K		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	20					cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						TCCTTGCCCTCGGCACTCTCG	0.632																																						uc001ayd.2		NA																	0					0						c.(58-60)GAG>AAG		hypothetical protein LOC79363							42.0	30.0	34.0					1																	16563180		2185	4249	6434	SO:0001583	missense	79363				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding	g.chr1:16563180C>T	BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"""Rem/Rab-Similar GTPase 1"""		"""chromosome 1 open reading frame 89"""	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.58G>A	1.37:g.16563180C>T	ENSP00000364749:p.Glu20Lys						p.E20K	NM_030907	NP_112169	Q9BU20	RSG1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.2e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)	1	480	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	20					Q5TEV7	Missense_Mutation	SNP	ENST00000375599.3	37	c.58G>A	CCDS171.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745839	0.69418	.	.	ENSG00000132881	ENST00000375599	T	0.62364	0.03	4.39	3.46	0.39613	.	0.261401	0.36778	N	0.002412	T	0.51686	0.1689	L	0.52573	1.65	0.42239	D	0.991922	P	0.40144	0.704	B	0.34385	0.181	T	0.57888	-0.7733	10	0.72032	D	0.01	-30.2742	10.419	0.44340	0.0:0.8016:0.1984:0.0	.	20	Q9BU20	RSG1_HUMAN	K	20	ENSP00000364749:E20K	ENSP00000364749:E20K	E	-	1	0	RSG1	16435767	0.999000	0.42202	0.973000	0.42090	0.563000	0.35712	4.258000	0.58822	1.184000	0.42957	0.305000	0.20034	GAG		0.632	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006279.2	NM_030907		3	5	0	0	0	0	3	5				
RCC2	55920	broad.mit.edu	37	1	17749292	17749292	+	Missense_Mutation	SNP	C	C	G	rs530477434		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:17749292C>G	ENST00000375436.4	-	5	751	c.564G>C	c.(562-564)aaG>aaC	p.K188N	RCC2_ENST00000375433.3_Missense_Mutation_p.K188N	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	188					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CTTCTACTCTCTTGGTGTCAC	0.557																																						uc001bal.2		NA																	0					0						c.(562-564)AAG>AAC		regulator of chromosome condensation 2							99.0	80.0	86.0					1																	17749292		2203	4300	6503	SO:0001583	missense	55920				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		g.chr1:17749292C>G		CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.564G>C	1.37:g.17749292C>G	ENSP00000364585:p.Lys188Asn					RCC2_uc001bam.2_Missense_Mutation_p.K188N	p.K188N	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	4	611	-		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	188			RCC1 2.		Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	c.564G>C	CCDS181.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317724	0.60524	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.85013	-1.93;-1.93	5.1	4.19	0.49359	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.84410	0.5466	N	0.13003	0.285	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.83571	0.0112	10	0.33940	T	0.23	-29.601	12.6209	0.56603	0.0:0.9184:0.0:0.0816	.	188	Q9P258	RCC2_HUMAN	N	188	ENSP00000364585:K188N;ENSP00000364582:K188N	ENSP00000364582:K188N	K	-	3	2	RCC2	17621879	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.420000	0.44679	1.291000	0.44653	0.555000	0.69702	AAG		0.557	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		21	68	0	0	0	0	21	68				
IGSF21	84966	broad.mit.edu	37	1	18703351	18703351	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:18703351G>A	ENST00000251296.1	+	8	1542	c.1159G>A	c.(1159-1161)Gac>Aac	p.D387N	IGSF21_ENST00000473951.1_3'UTR	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	387	Ig-like 2.					extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCGCCTCCTGGACGGCAGCGC	0.657																																						uc001bau.1		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(1159-1161)GAC>AAC		immunoglobin superfamily, member 21 precursor							45.0	46.0	46.0					1																	18703351		2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18703351G>A	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.1159G>A	1.37:g.18703351G>A	ENSP00000251296:p.Asp387Asn					IGSF21_uc001bav.1_Missense_Mutation_p.D208N	p.D387N	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	8	1542	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	387			Ig-like 2.		Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.1159G>A	CCDS184.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126616	0.56721	.	.	ENSG00000117154	ENST00000251296	T	0.12255	2.7	5.17	5.17	0.71159	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.20577	0.0495	N	0.16266	0.395	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.11155	-1.0599	10	0.11485	T	0.65	-17.3417	17.2254	0.86969	0.0:0.0:1.0:0.0	.	387	Q96ID5	IGS21_HUMAN	N	387	ENSP00000251296:D387N	ENSP00000251296:D387N	D	+	1	0	IGSF21	18575938	1.000000	0.71417	0.996000	0.52242	0.114000	0.19823	9.328000	0.96403	2.391000	0.81399	0.491000	0.48974	GAC		0.657	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		20	43	0	0	0	0	20	43				
AKR7L	246181	broad.mit.edu	37	1	19597298	19597298	+	RNA	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:19597298C>T	ENST00000429712.1	-	0	465				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GCGCTGTGGTCAGGTGCATGT	0.622																																						uc010ocx.1		NA																	0					0						c.(346-348)GAC>AAC		aflatoxin B1 aldehyde reductase 3 isoform 1							55.0	51.0	52.0					1																	19597298		2203	4300	6503			246181							g.chr1:19597298C>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19597298C>T						AKR7L_uc010ocy.1_Missense_Mutation_p.D116N	p.D116N	NM_201252	NP_957704					3	346	-								Q5U614	Missense_Mutation	SNP	ENST00000429712.1	37	c.346G>A		.	.	.	.	.	.	.	.	.	.	C	18.33	3.599772	0.66332	.	.	ENSG00000211454	ENST00000429712;ENST00000388886	.	.	.	4.1	4.1	0.47936	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.78886	0.4354	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82544	-0.0404	8	0.87932	D	0	.	15.3957	0.74790	0.0:1.0:0.0:0.0	.	116;116	F8W7D9;Q8NHP1	.;ARK74_HUMAN	N	116	.	ENSP00000373538:D116N	D	-	1	0	AKR7L	19469885	1.000000	0.71417	0.633000	0.29310	0.057000	0.15508	5.290000	0.65661	2.288000	0.76882	0.557000	0.71058	GAC		0.622	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		11	31	0	0	0	0	11	31				
AHDC1	27245	broad.mit.edu	37	1	27876393	27876393	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:27876393C>T	ENST00000247087.5	-	5	2830	c.2234G>A	c.(2233-2235)cGg>cAg	p.R745Q	AHDC1_ENST00000374011.2_Missense_Mutation_p.R745Q			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	745	Gly-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCCATTCTTCCGGGACCGTCT	0.677																																						uc009vsy.2		NA																	0				central_nervous_system(1)	1						c.(2233-2235)CGG>CAG		AT hook, DNA binding motif, containing 1							44.0	42.0	42.0					1																	27876393		2202	4300	6502	SO:0001583	missense	27245						DNA binding	g.chr1:27876393C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2234G>A	1.37:g.27876393C>T	ENSP00000247087:p.Arg745Gln					AHDC1_uc009vsz.1_Missense_Mutation_p.R745Q	p.R745Q	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	3203	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	745			Gly-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.2234G>A	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113931	0.94339	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.63580	-0.05;-0.05	5.78	5.78	0.91487	.	0.462268	0.18948	N	0.126769	T	0.70272	0.3205	N	0.24115	0.695	0.54753	D	0.99998	D	0.89917	1.0	D	0.81914	0.995	T	0.73011	-0.4117	10	0.72032	D	0.01	-9.9651	18.7782	0.91920	0.0:1.0:0.0:0.0	.	745	Q5TGY3	AHDC1_HUMAN	Q	745	ENSP00000247087:R745Q;ENSP00000363123:R745Q	ENSP00000247087:R745Q	R	-	2	0	AHDC1	27748980	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.195000	0.65131	2.731000	0.93534	0.650000	0.86243	CGG		0.677	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			10	43	0	0	0	0	10	43				
OSCP1	127700	broad.mit.edu	37	1	36883811	36883811	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:36883811C>G	ENST00000356637.5	-	11	1162	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	OSCP1_ENST00000315643.9_Intron|OSCP1_ENST00000235532.5_Missense_Mutation_p.E357Q|OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000433045.2_Missense_Mutation_p.E312Q|SNORA63_ENST00000364578.1_RNA			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	367					transport (GO:0006810)	plasma membrane (GO:0005886)		p.E367Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TCCGTGATCTCAAACTCCCCC	0.577																																						uc001cap.2		NA																	1	Substitution - Missense(1)		breast(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1099-1101)GAG>CAG		oxidored-nitro domain-containing protein isoform							101.0	75.0	84.0					1																	36883811		2203	4300	6503	SO:0001583	missense	127700				transport	basal plasma membrane		g.chr1:36883811C>G		CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"""oxidored nitro domain containing protein"""	608854	"""chromosome 1 open reading frame 102"""	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.1099G>C	1.37:g.36883811C>G	ENSP00000349052:p.Glu367Gln					OSCP1_uc001caq.2_Missense_Mutation_p.E357Q	p.E367Q	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN			11	1181	-			367					A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	ENST00000356637.5	37	c.1099G>C		.	.	.	.	.	.	.	.	.	.	C	15.10	2.733178	0.48939	.	.	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045	T;T;T	0.31510	1.9;1.91;1.49	5.58	5.58	0.84498	.	0.112824	0.64402	D	0.000011	T	0.26882	0.0658	L	0.35288	1.05	0.80722	D	1	B;B	0.23128	0.028;0.08	B;B	0.17098	0.015;0.017	T	0.02491	-1.1151	10	0.45353	T	0.12	.	16.7213	0.85410	0.0:1.0:0.0:0.0	.	357;367	Q8WVF1-3;Q8WVF1	.;OSCP1_HUMAN	Q	357;367;312	ENSP00000235532:E357Q;ENSP00000349052:E367Q;ENSP00000390820:E312Q	ENSP00000235532:E357Q	E	-	1	0	OSCP1	36656398	1.000000	0.71417	0.990000	0.47175	0.944000	0.59088	3.503000	0.53340	2.621000	0.88768	0.650000	0.86243	GAG		0.577	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000389759.1	NM_145047		7	36	0	0	0	0	7	36				
RIMKLA	284716	broad.mit.edu	37	1	42880305	42880305	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:42880305G>C	ENST00000431473.3	+	5	965	c.836G>C	c.(835-837)gGc>gCc	p.G279A		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	279	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCTAATGTTGGCTTCCTAGCC	0.483																																						uc001chi.2		NA																	0					0						c.(835-837)GGC>GCC		ribosomal modification protein rimK-like family							326.0	290.0	302.0					1																	42880305		2203	4300	6503	SO:0001583	missense	284716				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr1:42880305G>C	BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"""N-acetylaspartylglutamate synthetase II"""		"""family with sequence similarity 80, member A"""	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.836G>C	1.37:g.42880305G>C	ENSP00000414330:p.Gly279Ala						p.G279A	NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN			5	974	+			279			ATP-grasp.		Q5VUS5	Missense_Mutation	SNP	ENST00000431473.3	37	c.836G>C	CCDS466.2	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439463	0.63067	.	.	ENSG00000177181	ENST00000431473	.	.	.	5.22	5.22	0.72569	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.84379	0.5459	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.87521	0.2446	9	0.87932	D	0	-20.4113	16.2864	0.82724	0.0:0.0:1.0:0.0	.	279	Q8IXN7	RIMKA_HUMAN	A	279	.	ENSP00000414330:G279A	G	+	2	0	RIMKLA	42652892	1.000000	0.71417	0.989000	0.46669	0.631000	0.37964	9.256000	0.95535	2.442000	0.82660	0.555000	0.69702	GGC		0.483	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		23	270	0	0	0	0	23	270				
SLC2A1	6513	broad.mit.edu	37	1	43394969	43394969	+	Missense_Mutation	SNP	G	G	C	rs80359823		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:43394969G>C	ENST00000426263.3	-	7	1062	c.884C>G	c.(883-885)aCg>aGg	p.T295R	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	295			T -> M (in GLUT1DS1; 75% of wild-type glucose uptake activity). {ECO:0000269|PubMed:15622525, ECO:0000269|PubMed:20129935}.		carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GAAGATGCTCGTGGAGTAATA	0.572																																						uc001cik.2		NA																	0				central_nervous_system(2)|pancreas(2)|ovary(1)	5	GRCh37	CM052365	SLC2A1	M	rs80359823	c.(883-885)ACG>AGG		solute carrier family 2 (facilitated glucose	Etomidate(DB00292)						44.0	40.0	42.0					1																	43394969		2203	4300	6503	SO:0001583	missense	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43394969G>C	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.884C>G	1.37:g.43394969G>C	ENSP00000416293:p.Thr295Arg						p.T295R	NM_006516	NP_006507	P11166	GTR1_HUMAN			7	1409	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	295		T -> M (in GLUT1DS1; 75% of wild-type glucose uptake activity).	Extracellular (Potential).		A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	c.884C>G	CCDS477.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825801	0.90955	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000439722	D;D	0.81579	-1.51;-1.51	5.24	5.24	0.73138	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92727	0.7688	H	0.96720	3.87	0.80722	D	1	D	0.59767	0.986	D	0.64506	0.926	D	0.94936	0.8087	10	0.72032	D	0.01	.	16.3451	0.83120	0.0:0.0:1.0:0.0	.	295	P11166	GTR1_HUMAN	R	295;295;237;200	ENSP00000416293:T295R;ENSP00000395521:T200R	ENSP00000361579:T295R	T	-	2	0	SLC2A1	43167556	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.476000	0.97823	2.451000	0.82905	0.555000	0.69702	ACG		0.572	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		7	9	0	0	0	0	7	9				
MPL	4352	broad.mit.edu	37	1	43812513	43812513	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:43812513C>G	ENST00000372470.3	+	8	1258	c.1216C>G	c.(1216-1218)Ctg>Gtg	p.L406V	MPL_ENST00000413998.2_Missense_Mutation_p.L406V	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	406	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)	p.L406V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	CAGTGGGCATCTGGAATTGGA	0.567			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	uc001ciw.2		NA	yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		1	Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363						c.(1216-1218)CTG>GTG		myeloproliferative leukemia virus oncogene							74.0	68.0	70.0					1																	43812513		2203	4300	6503	SO:0001583	missense	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43812513C>G	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1216C>G	1.37:g.43812513C>G	ENSP00000361548:p.Leu406Val					MPL_uc001civ.2_Missense_Mutation_p.L406V|MPL_uc009vwr.2_Missense_Mutation_p.L399V	p.L406V	NM_005373	NP_005364	P40238	TPOR_HUMAN			8	1261	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	406			Fibronectin type-III 2.|Extracellular (Potential).		Q5JUZ0	Missense_Mutation	SNP	ENST00000372470.3	37	c.1216C>G	CCDS483.1	.	.	.	.	.	.	.	.	.	.	c	16.27	3.077054	0.55753	.	.	ENSG00000117400	ENST00000372468;ENST00000372470;ENST00000413998	T;T	0.59224	0.28;0.28	5.3	4.36	0.52297	Fibronectin, type III (4);Long hematopoietin receptor, single chain, conserved site (1);Immunoglobulin-like fold (1);	0.670422	0.15191	N	0.275536	T	0.70885	0.3275	M	0.63843	1.955	0.32628	N	0.522343	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.75036	-0.3459	10	0.59425	D	0.04	-8.5491	9.1581	0.37005	0.0:0.8935:0.0:0.1065	.	399;406;406	Q308M1;P40238;Q5JUY5	.;TPOR_HUMAN;.	V	406	ENSP00000361548:L406V;ENSP00000414004:L406V	ENSP00000361546:L406V	L	+	1	2	MPL	43585100	1.000000	0.71417	0.981000	0.43875	0.743000	0.42351	1.120000	0.31271	1.154000	0.42482	0.556000	0.70494	CTG		0.567	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373		17	80	0	0	0	0	17	80				
SZT2	23334	broad.mit.edu	37	1	43907767	43907767	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:43907767G>A	ENST00000562955.1	+	55	7668	c.7668G>A	c.(7666-7668)agG>agA	p.R2556R	SZT2_ENST00000372442.1_Silent_p.R1714R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2613					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCTGGGAAGGAACTTCTTGC	0.642																																						uc001cjk.1		NA																	0					0						c.(5140-5142)AGG>AGA		hypothetical protein LOC23334							33.0	33.0	33.0					1																	43907767		2202	4300	6502	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43907767G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7668G>A	1.37:g.43907767G>A							p.R1714R	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			41	5604	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	2613					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.5142G>A	CCDS30694.2																																																																																				0.642	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		4	46	0	0	0	0	4	46				
TMEM53	79639	broad.mit.edu	37	1	45120816	45120816	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:45120816G>T	ENST00000372237.3	-	3	412	c.249C>A	c.(247-249)atC>atA	p.I83I	TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372235.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372242.3_Silent_p.I83I|TMEM53_ENST00000476724.1_5'UTR	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	83						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GAAGTGAAGGGATACCCAGTG	0.552											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001cmc.2		NA																	0				ovary(2)	2						c.(247-249)ATC>ATA		transmembrane protein 53							59.0	64.0	62.0					1																	45120816		2203	4300	6503	SO:0001819	synonymous_variant	79639					integral to membrane		g.chr1:45120816G>T		CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.249C>A	1.37:g.45120816G>T			OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	929	TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Silent_p.I10I|TMEM53_uc009vxh.1_Intron|TMEM53_uc010ola.1_Intron	p.I83I	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN			3	285	-	Acute lymphoblastic leukemia(166;0.155)		83					B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Silent	SNP	ENST00000372237.3	37	c.249C>A	CCDS511.1																																																																																				0.552	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	NM_024587		11	47	1	0	4.69e-08	5e-08	11	47				
PTCH2	8643	broad.mit.edu	37	1	45295679	45295679	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:45295679C>G	ENST00000372192.3	-	7	967	c.837G>C	c.(835-837)ctG>ctC	p.L279L	PTCH2_ENST00000447098.2_Silent_p.L279L	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	279					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AGCCCCCACTCAGCTCGTGAG	0.607									Basal Cell Nevus syndrome																													uc010olf.1		NA																	0				lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18						c.(835-837)CTG>CTC		patched 2							32.0	36.0	35.0					1																	45295679		2203	4300	6503	SO:0001819	synonymous_variant	8643	Basal_Cell_Nevus_syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45295679C>G	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.837G>C	1.37:g.45295679C>G						PTCH2_uc010olg.1_5'UTR	p.L279L	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN			7	849	-	Acute lymphoblastic leukemia(166;0.155)		279			Extracellular (Potential).		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	ENST00000372192.3	37	c.837G>C	CCDS516.1																																																																																				0.607	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		10	42	0	0	0	0	10	42				
LRRC41	10489	broad.mit.edu	37	1	46745255	46745255	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:46745255C>T	ENST00000343304.6	-	8	2337	c.2052G>A	c.(2050-2052)gaG>gaA	p.E684E	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	684					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGGGCGCTTCTCAAACAGAC	0.552																																						uc001cpn.2		NA																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(2050-2052)GAG>GAA		MUF1 protein							97.0	111.0	106.0					1																	46745255		2203	4300	6503	SO:0001819	synonymous_variant	10489							g.chr1:46745255C>T	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2052G>A	1.37:g.46745255C>T						LRRC41_uc010omb.1_Silent_p.E684E	p.E684E	NM_006369	NP_006360	Q15345	LRC41_HUMAN			8	2096	-	Acute lymphoblastic leukemia(166;0.155)		684					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Silent	SNP	ENST00000343304.6	37	c.2052G>A	CCDS533.1																																																																																				0.552	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		45	132	0	0	0	0	45	132				
MKNK1	8569	broad.mit.edu	37	1	47046281	47046281	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:47046281G>A	ENST00000371946.4	-	4	318	c.155C>T	c.(154-156)tCt>tTt	p.S52F	MKNK1_ENST00000371944.4_5'UTR|MKNK1_ENST00000465783.1_Missense_Mutation_p.S52F|MKNK1_ENST00000428112.2_Missense_Mutation_p.S52F|MKNK1_ENST00000371945.4_Missense_Mutation_p.S52F|MKNK1_ENST00000341183.5_Missense_Mutation_p.S52F|MKNK1_ENST00000545730.1_Missense_Mutation_p.S52F	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	52	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					AAGCAATTCAGAGGTCAGCTT	0.478																																						uc001cqb.2		NA																	0				lung(2)	2						c.(154-156)TCT>TTT		MAP kinase-interacting serine/threonine kinase 1							113.0	94.0	100.0					1																	47046281		2203	4300	6503	SO:0001583	missense	8569				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:47046281G>A	AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.155C>T	1.37:g.47046281G>A	ENSP00000361014:p.Ser52Phe					MKNK1_uc010omd.1_5'UTR|MKNK1_uc001cqc.2_Missense_Mutation_p.S52F|MKNK1_uc009vyi.2_Missense_Mutation_p.S52F|MKNK1_uc010ome.1_5'UTR|MKNK1_uc009vyj.2_Intron|MKNK1_uc001cqd.2_Missense_Mutation_p.S40F|MKNK1_uc010omf.1_Missense_Mutation_p.S52F	p.S52F	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN			4	399	-	Acute lymphoblastic leukemia(166;0.155)		52			Protein kinase.		D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Missense_Mutation	SNP	ENST00000371946.4	37	c.155C>T	CCDS538.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064590	0.76187	.	.	ENSG00000079277	ENST00000371946;ENST00000371945;ENST00000341183;ENST00000428112;ENST00000532783;ENST00000496619;ENST00000528237;ENST00000545730;ENST00000529170;ENST00000531769;ENST00000465783;ENST00000532110	T;T;T;T;T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;1.08;-0.18;1.08;-0.18;1.08;1.08;1.39;1.38	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.098204	0.64402	D	0.000002	T	0.66519	0.2797	L	0.38175	1.15	0.43448	D	0.995636	P;P;P;P	0.52463	0.953;0.831;0.733;0.923	P;P;B;P	0.59761	0.863;0.605;0.435;0.722	T	0.67027	-0.5774	10	0.62326	D	0.03	-23.8143	11.7543	0.51866	0.0:0.0:0.8246:0.1753	.	52;52;52;52	B4E1V9;Q9BUB5-3;Q9BUB5-2;Q9BUB5	.;.;.;MKNK1_HUMAN	F	52;52;52;52;40;52;46;52;52;52;52;122	ENSP00000361014:S52F;ENSP00000361013:S52F;ENSP00000339573:S52F;ENSP00000411135:S52F;ENSP00000431837:S40F;ENSP00000436709:S52F;ENSP00000432665:S46F;ENSP00000440974:S52F;ENSP00000435163:S52F;ENSP00000434021:S52F;ENSP00000434834:S52F;ENSP00000431985:S122F	ENSP00000339573:S52F	S	-	2	0	MKNK1	46818868	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.274000	0.72587	2.865000	0.98341	0.655000	0.94253	TCT		0.478	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021897.2	NM_003684		22	41	0	0	0	0	22	41				
OSBPL9	114883	broad.mit.edu	37	1	52246990	52246990	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:52246990G>A	ENST00000428468.1	+	16	1413	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	OSBPL9_ENST00000486942.1_Missense_Mutation_p.D293N|OSBPL9_ENST00000337809.4_Missense_Mutation_p.D476N|OSBPL9_ENST00000371710.3_Missense_Mutation_p.D489N|OSBPL9_ENST00000530544.1_Missense_Mutation_p.D390N|OSBPL9_ENST00000435686.2_Missense_Mutation_p.D306N|OSBPL9_ENST00000531828.1_Missense_Mutation_p.D306N|OSBPL9_ENST00000371714.1_Missense_Mutation_p.D458N|OSBPL9_ENST00000462759.1_Missense_Mutation_p.D293N|OSBPL9_ENST00000453295.1_Missense_Mutation_p.D454N|OSBPL9_ENST00000361556.5_Missense_Mutation_p.D361N|OSBPL9_ENST00000447887.1_Missense_Mutation_p.D481N			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	471					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATTACCAAATGATACTGAAGA	0.358																																						uc001cst.2		NA																	0				central_nervous_system(1)	1						c.(1411-1413)GAT>AAT		oxysterol binding protein-like 9 isoform e							100.0	88.0	92.0					1																	52246990		2203	4300	6503	SO:0001583	missense	114883				lipid transport		lipid binding	g.chr1:52246990G>A	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1411G>A	1.37:g.52246990G>A	ENSP00000407168:p.Asp471Asn					OSBPL9_uc001css.2_Missense_Mutation_p.D476N|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Missense_Mutation_p.D472N|OSBPL9_uc001csu.2_Missense_Mutation_p.D481N|OSBPL9_uc001csv.2_Missense_Mutation_p.D306N|OSBPL9_uc001csw.2_Missense_Mutation_p.D458N|OSBPL9_uc001csy.2_Missense_Mutation_p.D293N|OSBPL9_uc001csz.2_Missense_Mutation_p.D293N|OSBPL9_uc001cta.2_Missense_Mutation_p.D361N|OSBPL9_uc001ctb.2_Missense_Mutation_p.D256N	p.D471N	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN			16	1430	+			471					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	c.1411G>A	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561670	0.65538	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.13	5.13	0.70059	.	0.960161	0.08769	N	0.896570	T	0.28333	0.0700	N	0.16708	0.43	0.50313	D	0.999865	B;B;B;B;B	0.24317	0.099;0.003;0.096;0.0;0.101	B;B;B;B;B	0.30943	0.112;0.003;0.088;0.004;0.122	T	0.09707	-1.0662	10	0.34782	T	0.22	-23.6795	18.7594	0.91845	0.0:0.0:1.0:0.0	.	454;361;487;471;476	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	N	458;489;476;481;306;471;454;390;306;361;293;293	ENSP00000360779:D458N;ENSP00000360775:D489N;ENSP00000337265:D476N;ENSP00000412733:D481N;ENSP00000402646:D306N;ENSP00000407168:D471N;ENSP00000413263:D454N;ENSP00000433675:D390N;ENSP00000433083:D306N;ENSP00000354970:D361N;ENSP00000433279:D293N;ENSP00000431980:D293N	ENSP00000337265:D476N	D	+	1	0	OSBPL9	52019578	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.010000	0.93611	2.663000	0.90544	0.655000	0.94253	GAT		0.358	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			12	22	0	0	0	0	12	22				
FAM151A	338094	broad.mit.edu	37	1	55081832	55081832	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:55081832G>T	ENST00000302250.2	-	3	436	c.276C>A	c.(274-276)gtC>gtA	p.V92V	FAM151A_ENST00000371304.2_Silent_p.V92V|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	92						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CAGCCTCCAGGACTGTGATGT	0.453																																						uc001cxn.2		NA																	0					0						c.(274-276)GTC>GTA		hypothetical protein LOC338094							112.0	92.0	99.0					1																	55081832		2203	4300	6503	SO:0001819	synonymous_variant	338094					integral to membrane		g.chr1:55081832G>T	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.276C>A	1.37:g.55081832G>T						ACOT11_uc001cxm.1_Intron	p.V92V	NM_176782	NP_788954	Q8WW52	F151A_HUMAN			3	408	-			92					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Silent	SNP	ENST00000302250.2	37	c.276C>A	CCDS594.1																																																																																				0.453	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		29	69	1	0	1.75e-11	1.88e-11	29	69				
FGGY	55277	broad.mit.edu	37	1	59844477	59844477	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:59844477C>G	ENST00000303721.7	+	5	696	c.522C>G	c.(520-522)ttC>ttG	p.F174L	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371218.4_Missense_Mutation_p.F174L|FGGY_ENST00000371212.1_Missense_Mutation_p.F86L	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	174					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCCGGACTTCTTATCGTGGA	0.393																																						uc001czi.3		NA																	0				ovary(1)	1						c.(520-522)TTC>TTG		FGGY carbohydrate kinase domain containing							114.0	112.0	113.0					1																	59844477		2203	4300	6503	SO:0001583	missense	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59844477C>G		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.522C>G	1.37:g.59844477C>G	ENSP00000305922:p.Phe174Leu					FGGY_uc001czg.2_Missense_Mutation_p.F62L|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.F174L|FGGY_uc001czj.3_Missense_Mutation_p.F174L|FGGY_uc001czk.3_Missense_Mutation_p.F62L|FGGY_uc001czl.3_Missense_Mutation_p.F86L	p.F174L	NM_018291	NP_060761	Q96C11	FGGY_HUMAN			5	734	+	all_cancers(7;7.36e-05)		174					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	c.522C>G	CCDS611.2	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639635	0.67244	.	.	ENSG00000172456	ENST00000413489;ENST00000371218;ENST00000303721;ENST00000371212	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.54	2.68	0.31781	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77974	0.4211	M	0.93898	3.47	0.80722	D	1	D;D;D;D	0.76494	0.998;0.97;0.999;0.999	D;P;D;D	0.75484	0.982;0.715;0.982;0.986	T	0.77267	-0.2651	9	.	.	.	-14.5876	7.0012	0.24811	0.1395:0.7185:0.0:0.142	.	174;86;174;174	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	L	174;174;174;86	ENSP00000406607:F174L;ENSP00000360262:F174L;ENSP00000305922:F174L;ENSP00000360256:F86L	.	F	+	3	2	FGGY	59617065	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	0.830000	0.27462	0.457000	0.26962	-0.854000	0.03029	TTC		0.393	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		3	47	0	0	0	0	3	47				
DNTTIP2	30836	broad.mit.edu	37	1	94337703	94337703	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:94337703C>T	ENST00000436063.2	-	5	2049	c.1992G>A	c.(1990-1992)ctG>ctA	p.L664L		NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	664					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CTCTCATCTTCAGTGCTTTGA	0.403																																						uc001dqf.2		NA																	0					0						c.(1990-1992)CTG>CTA		deoxynucleotidyltransferase, terminal,							223.0	214.0	217.0					1																	94337703		1863	4108	5971	SO:0001819	synonymous_variant	30836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:94337703C>T	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1992G>A	1.37:g.94337703C>T						DNTTIP2_uc010otm.1_RNA	p.L664L	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)	5	2030	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	664					Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Silent	SNP	ENST00000436063.2	37	c.1992G>A	CCDS44174.1																																																																																				0.403	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		72	151	0	0	0	0	72	151				
AGL	178	broad.mit.edu	37	1	100346890	100346890	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:100346890C>T	ENST00000294724.4	+	16	2522	c.2044C>T	c.(2044-2046)Cct>Tct	p.P682S	AGL_ENST00000370163.3_Missense_Mutation_p.P682S|AGL_ENST00000361302.3_Missense_Mutation_p.P666S|AGL_ENST00000370165.3_Missense_Mutation_p.P682S|AGL_ENST00000361915.3_Missense_Mutation_p.P682S|AGL_ENST00000361522.4_Missense_Mutation_p.P665S|AGL_ENST00000370161.2_Missense_Mutation_p.P666S	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	682					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TAAGTGGAATCCTGAAGCATT	0.373																																						uc001dsi.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2044-2046)CCT>TCT		amylo-1,6-glucosidase,							100.0	102.0	101.0					1																	100346890		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100346890C>T	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2044C>T	1.37:g.100346890C>T	ENSP00000294724:p.Pro682Ser					AGL_uc001dsj.1_Missense_Mutation_p.P682S|AGL_uc001dsk.1_Missense_Mutation_p.P682S|AGL_uc001dsl.1_Missense_Mutation_p.P682S|AGL_uc001dsm.1_Missense_Mutation_p.P666S|AGL_uc001dsn.1_Missense_Mutation_p.P665S	p.P682S	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	16	2444	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	682			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.2044C>T	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433330	0.43224	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.7	5.7	0.88788	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.050302	0.85682	D	0.000000	T	0.39462	0.1079	N	0.16743	0.435	0.80722	D	1	B;B;B	0.17465	0.022;0.022;0.013	B;B;B	0.18871	0.023;0.015;0.007	T	0.48222	-0.9054	10	0.06625	T	0.88	.	20.1979	0.98245	0.0:1.0:0.0:0.0	.	665;666;682	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	S	682;682;682;682;666;666;665	ENSP00000355106:P682S;ENSP00000359184:P682S;ENSP00000359182:P682S;ENSP00000294724:P682S;ENSP00000354971:P666S;ENSP00000359180:P666S;ENSP00000354635:P665S	ENSP00000294724:P682S	P	+	1	0	AGL	100119478	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.491000	0.53252	2.846000	0.97976	0.650000	0.86243	CCT		0.373	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		19	58	0	0	0	0	19	58				
AGL	178	broad.mit.edu	37	1	100366244	100366244	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:100366244C>G	ENST00000294724.4	+	26	3893	c.3415C>G	c.(3415-3417)Cta>Gta	p.L1139V	AGL_ENST00000370163.3_Missense_Mutation_p.L1139V|AGL_ENST00000361302.3_Missense_Mutation_p.L1123V|AGL_ENST00000370165.3_Missense_Mutation_p.L1139V|AGL_ENST00000361915.3_Missense_Mutation_p.L1139V|AGL_ENST00000361522.4_Missense_Mutation_p.L1122V|AGL_ENST00000370161.2_Missense_Mutation_p.L1123V	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1139					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CATTCCTAATCTACTGGGTGA	0.398																																						uc001dsi.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3415-3417)CTA>GTA		amylo-1,6-glucosidase,							274.0	263.0	267.0					1																	100366244		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100366244C>G	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3415C>G	1.37:g.100366244C>G	ENSP00000294724:p.Leu1139Val					AGL_uc001dsj.1_Missense_Mutation_p.L1139V|AGL_uc001dsk.1_Missense_Mutation_p.L1139V|AGL_uc001dsl.1_Missense_Mutation_p.L1139V|AGL_uc001dsm.1_Missense_Mutation_p.L1123V|AGL_uc001dsn.1_Missense_Mutation_p.L1122V	p.L1139V	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	26	3815	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1139			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.3415C>G	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372541	0.82573	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	5.75	5.75	0.90469	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.81113	0.4755	M	0.87758	2.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83910	0.0295	10	0.87932	D	0	-2.2822	14.1381	0.65300	0.0:0.9284:0.0:0.0716	.	1122;1123;1139	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	V	1139;1139;1139;1139;1123;1123;1122	ENSP00000355106:L1139V;ENSP00000359184:L1139V;ENSP00000359182:L1139V;ENSP00000294724:L1139V;ENSP00000354971:L1123V;ENSP00000359180:L1123V;ENSP00000354635:L1122V	ENSP00000294724:L1139V	L	+	1	2	AGL	100138832	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.427000	0.44740	2.717000	0.92951	0.650000	0.86243	CTA		0.398	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		37	151	0	0	0	0	37	151				
HENMT1	113802	broad.mit.edu	37	1	109191450	109191450	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:109191450G>C	ENST00000370032.5	-	8	1340	c.920C>G	c.(919-921)tCa>tGa	p.S307*	HENMT1_ENST00000402983.1_Nonsense_Mutation_p.S307*|HENMT1_ENST00000370031.1_Nonsense_Mutation_p.S338*|HENMT1_ENST00000493676.1_5'Flank	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	307					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.G306_P310delGSKAP(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						AGGGGCCTTTGAGCCACCAAT	0.517																																						uc001dvt.3		NA																	1	Deletion - In frame(1)		stomach(1)		0						c.(919-921)TCA>TGA		hypothetical protein LOC113802							105.0	96.0	99.0					1																	109191450		2203	4300	6503	SO:0001587	stop_gained	113802				gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity	g.chr1:109191450G>C		CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"""HEN1 methyltransferase homolog (Arabidopsis)"""	612178	"""chromosome 1 open reading frame 59"""	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.920C>G	1.37:g.109191450G>C	ENSP00000359049:p.Ser307*					C1orf59_uc001dvu.3_Nonsense_Mutation_p.S307*|C1orf59_uc009wer.2_3'UTR	p.S307*	NM_001102592	NP_001096062	Q5T8I9	HENMT_HUMAN		Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163)	8	1158	-		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	307					A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Nonsense_Mutation	SNP	ENST00000370032.5	37	c.920C>G	CCDS787.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108490	0.37242	.	.	ENSG00000162639	ENST00000402983;ENST00000370031;ENST00000370032;ENST00000420055	.	.	.	3.88	-4.39	0.03611	.	4.479430	0.00397	N	0.000042	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-3.8163	2.145	0.03785	0.1932:0.4048:0.2495:0.1524	.	.	.	.	X	307;338;307;307	.	ENSP00000359048:S338X	S	-	2	0	HENMT1	108992973	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.671000	0.25172	-0.596000	0.05821	-0.291000	0.09656	TCA		0.517	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584		9	56	0	0	0	0	9	56				
GPSM2	29899	broad.mit.edu	37	1	109461321	109461321	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:109461321G>A	ENST00000406462.2	+	13	2123	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Silent_p.L450L			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	450					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TCAACAGACTGAAGGGGAAAA	0.373																																						uc010ovc.1		NA																	0				central_nervous_system(1)	1						c.(1348-1350)CTG>CTA		LGN protein							95.0	97.0	96.0					1																	109461321		2203	4300	6503	SO:0001819	synonymous_variant	29899				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding	g.chr1:109461321G>A	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1350G>A	1.37:g.109461321G>A						AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Silent_p.L450L|GPSM2_uc010ove.1_Silent_p.L450L	p.L450L	NM_013296	NP_037428	P81274	GPSM2_HUMAN		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)	12	1846	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	450					Q5T1N8|Q6IBL7|Q8N0Z5	Silent	SNP	ENST00000406462.2	37	c.1350G>A	CCDS792.2																																																																																				0.373	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296		9	56	0	0	0	0	9	56				
CELSR2	1952	broad.mit.edu	37	1	109795615	109795615	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:109795615G>A	ENST00000271332.3	+	1	2975	c.2914G>A	c.(2914-2916)Gac>Aac	p.D972N		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	972	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|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(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTTTCAGCTGGACATCTTCTC	0.592																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	0				ovary(4)|lung(3)|skin(1)	8						c.(2914-2916)GAC>AAC		cadherin EGF LAG seven-pass G-type receptor 2							114.0	103.0	107.0					1																	109795615		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795615G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2914G>A	1.37:g.109795615G>A	ENSP00000271332:p.Asp972Asn						p.D972N	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	2975	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	972			Extracellular (Potential).|Cadherin 8.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.2914G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	16.86	3.240565	0.58995	.	.	ENSG00000143126	ENST00000271332	T	0.62788	0.0	4.92	4.92	0.64577	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.56761	0.2007	N	0.15975	0.35	0.51012	D	0.999903	D	0.89917	1.0	D	0.91635	0.999	T	0.57171	-0.7857	9	0.26408	T	0.33	.	18.384	0.90461	0.0:0.0:1.0:0.0	.	972	Q9HCU4	CELR2_HUMAN	N	972	ENSP00000271332:D972N	ENSP00000271332:D972N	D	+	1	0	CELSR2	109597138	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.601000	0.98297	2.591000	0.87537	0.650000	0.86243	GAC		0.592	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		28	76	0	0	0	0	28	76				
SLC22A15	55356	broad.mit.edu	37	1	116577934	116577934	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:116577934G>A	ENST00000369503.4	+	7	1201	c.1071G>A	c.(1069-1071)ttG>ttA	p.L357L	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	357					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTATCTACTTGATTAACCAAA	0.438																																						uc001egb.3		NA																	0				large_intestine(2)	2						c.(1069-1071)TTG>TTA		solute carrier family 22, member 15							87.0	82.0	84.0					1																	116577934		1924	4142	6066	SO:0001819	synonymous_variant	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116577934G>A	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.1071G>A	1.37:g.116577934G>A							p.L357L	NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	7	1201	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	357			Helical; (Potential).		A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Silent	SNP	ENST00000369503.4	37	c.1071G>A	CCDS44198.1																																																																																				0.438	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		12	28	0	0	0	0	12	28				
WDR3	10885	broad.mit.edu	37	1	118483837	118483837	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:118483837C>G	ENST00000349139.5	+	8	927	c.880C>G	c.(880-882)Ctt>Gtt	p.L294V	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	294						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AGGCAGGATTCTTGCTTGCCA	0.413																																						uc010oxe.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(880-882)CTT>GTT		WD repeat-containing protein 3							89.0	86.0	87.0					1																	118483837		2203	4300	6503	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118483837C>G	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.880C>G	1.37:g.118483837C>G	ENSP00000308179:p.Leu294Val					WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_Missense_Mutation_p.L123V	p.L294V	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	8	946	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	294			WD 6.			Missense_Mutation	SNP	ENST00000349139.5	37	c.880C>G	CCDS898.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869062	0.51588	.	.	ENSG00000065183	ENST00000349139	D	0.83992	-1.79	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.196921	0.44285	D	0.000463	T	0.72510	0.3469	M	0.69463	2.115	0.80722	D	1	P	0.48294	0.908	B	0.36922	0.236	T	0.76623	-0.2891	10	0.42905	T	0.14	-13.5207	13.5145	0.61533	0.0:0.9197:0.0:0.0803	.	294	Q9UNX4	WDR3_HUMAN	V	294	ENSP00000308179:L294V	ENSP00000308179:L294V	L	+	1	0	WDR3	118285360	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	2.402000	0.44521	2.673000	0.90976	0.655000	0.94253	CTT		0.413	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		5	55	0	0	0	0	5	55				
NBPF10	100132406	broad.mit.edu	37	1	145368591	145368591	+	Silent	SNP	C	C	T	rs587625465		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:145368591C>T	ENST00000369339.3	+	17	2176	c.1923C>T	c.(1921-1923)atC>atT	p.I641I	NBPF10_ENST00000342960.5_Silent_p.I3523I|NBPF10_ENST00000369338.1_Silent_p.I639I			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	818	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AACAGCACATCAGCTTCGCCC	0.448																																						uc001end.3		NA																	0					0						c.(10792-10794)ATC>ATT		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145368591C>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1923C>T	1.37:g.145368591C>T						NBPF9_uc010oye.1_Silent_p.I882I|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Silent_p.I451I|NBPF10_uc010oyk.1_Silent_p.I239I|NBPF10_uc010oyl.1_Silent_p.I239I	p.I3598I	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	86	10829	+	all_hematologic(923;0.032)		3523					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.10794C>T																																																																																					0.448	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		59	461	0	0	0	0	59	461				
CHD1L	9557	broad.mit.edu	37	1	146756150	146756150	+	Missense_Mutation	SNP	G	G	A	rs368838337		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:146756150G>A	ENST00000369258.4	+	16	1852	c.1832G>A	c.(1831-1833)cGa>cAa	p.R611Q	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Missense_Mutation_p.R407Q|CHD1L_ENST00000361293.5_Missense_Mutation_p.R330Q|CHD1L_ENST00000431239.1_Missense_Mutation_p.R517Q	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	611					ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CAAGAGGGCCGATCACTCCGA	0.348																																						uc001epm.3		NA																	0				ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6						c.(1831-1833)CGA>CAA		chromodomain helicase DNA binding protein		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	87.0	89.0	88.0		1832	4.1	1.0	1		88	0,8600		0,0,4300	no	missense	CHD1L	NM_004284.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	611/898	146756150	1,13005	2203	4300	6503	SO:0001583	missense	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146756150G>A	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.1832G>A	1.37:g.146756150G>A	ENSP00000358262:p.Arg611Gln					uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.R498Q|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.R517Q|CHD1L_uc010ozp.1_Missense_Mutation_p.R330Q|CHD1L_uc001epo.3_Missense_Mutation_p.R407Q|CHD1L_uc010ozq.1_Missense_Mutation_p.R184Q|CHD1L_uc009wji.2_Missense_Mutation_p.R330Q	p.R611Q	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN			16	1895	+	all_hematologic(923;0.0487)		611					A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	c.1832G>A	CCDS927.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492723	0.84962	2.27E-4	0.0	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	D;T;D;D	0.89681	-2.55;-1.42;-2.43;-1.52	6.07	4.08	0.47627	.	0.187214	0.47093	D	0.000242	D	0.90027	0.6886	M	0.63843	1.955	0.46542	D	0.999096	D;D;D	0.89917	1.0;0.995;0.989	D;P;P	0.68943	0.961;0.849;0.76	D	0.88710	0.3222	10	0.32370	T	0.25	.	12.6261	0.56630	0.0:0.3194:0.6806:0.0	.	517;407;611	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	Q	517;407;611;330	ENSP00000389031:R517Q;ENSP00000358263:R407Q;ENSP00000358262:R611Q;ENSP00000355100:R330Q	ENSP00000355100:R330Q	R	+	2	0	CHD1L	145222774	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.076000	0.57591	1.548000	0.49413	0.655000	0.94253	CGA		0.348	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		17	63	0	0	0	0	17	63				
MCL1	4170	broad.mit.edu	37	1	150551469	150551469	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:150551469C>T	ENST00000369026.2	-	1	597	c.538G>A	c.(538-540)Gag>Aag	p.E180K	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_Missense_Mutation_p.E180K	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	180					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GAGATAATCTCCAGCGACTGC	0.627																																						uc001euz.2		NA																	0					0						c.(538-540)GAG>AAG		myeloid cell leukemia sequence 1 isoform 1							54.0	55.0	55.0					1																	150551469		2203	4300	6503	SO:0001583	missense	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150551469C>T	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.538G>A	1.37:g.150551469C>T	ENSP00000358022:p.Glu180Lys					MCL1_uc010pch.1_Missense_Mutation_p.E70K|MCL1_uc001eva.2_Missense_Mutation_p.E180K	p.E180K	NM_021960	NP_068779	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		1	668	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		180					B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Missense_Mutation	SNP	ENST00000369026.2	37	c.538G>A	CCDS957.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535206	0.85812	.	.	ENSG00000143384	ENST00000369026;ENST00000307940;ENST00000439749	T;T	0.04194	3.68;3.68	5.14	4.22	0.49857	.	0.365129	0.25842	N	0.027944	T	0.05960	0.0155	L	0.34521	1.04	0.37207	D	0.904642	D;P	0.64830	0.994;0.949	D;B	0.63488	0.915;0.319	T	0.22521	-1.0214	10	0.72032	D	0.01	-9.7782	12.0247	0.53362	0.0:0.6646:0.3354:0.0	.	180;180	Q07820-2;Q07820	.;MCL1_HUMAN	K	180;180;109	ENSP00000358022:E180K;ENSP00000309973:E180K	ENSP00000309973:E180K	E	-	1	0	MCL1	148818093	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.269000	0.33074	1.367000	0.46095	0.655000	0.94253	GAG		0.627	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960		25	59	0	0	0	0	25	59				
FLG	2312	broad.mit.edu	37	1	152282333	152282333	+	Missense_Mutation	SNP	G	G	C	rs373806639		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:152282333G>C	ENST00000368799.1	-	3	5064	c.5029C>G	c.(5029-5031)Cca>Gca	p.P1677A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1677	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTTCTCCTGGACTTGACCTT	0.567									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5029-5031)CCA>GCA		filaggrin							325.0	325.0	325.0					1																	152282333		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282333G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5029C>G	1.37:g.152282333G>C	ENSP00000357789:p.Pro1677Ala						p.P1677A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5065	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1677			Ser-rich.|Filaggrin 10.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5029C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	4.322	0.059025	0.08339	.	.	ENSG00000143631	ENST00000368799	T	0.03413	3.94	3.64	-1.9	0.07665	.	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	0.09310	N	1	B	0.25563	0.129	B	0.29524	0.103	T	0.44574	-0.9319	9	0.09338	T	0.73	.	2.291	0.04138	0.1345:0.1383:0.4959:0.2313	.	1677	P20930	FILA_HUMAN	A	1677	ENSP00000357789:P1677A	ENSP00000357789:P1677A	P	-	1	0	FLG	150548957	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.855000	0.01663	-0.082000	0.12640	0.306000	0.20318	CCA		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		129	468	0	0	0	0	129	468				
FLG	2312	broad.mit.edu	37	1	152283709	152283709	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:152283709C>G	ENST00000368799.1	-	3	3688	c.3653G>C	c.(3652-3654)aGa>aCa	p.R1218T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1218	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGAGTTTGTCTGCTTGCACT	0.552									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3652-3654)AGA>ACA		filaggrin							362.0	354.0	357.0					1																	152283709		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283709C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3653G>C	1.37:g.152283709C>G	ENSP00000357789:p.Arg1218Thr					uc001ezv.2_5'Flank	p.R1218T	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3689	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1218			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3653G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	2.310	-0.358085	0.05138	.	.	ENSG00000143631	ENST00000368799	T	0.02812	4.15	1.41	-1.3	0.09259	.	.	.	.	.	T	0.00875	0.0029	M	0.78637	2.42	0.09310	N	1	P	0.42584	0.784	B	0.28638	0.092	T	0.47649	-0.9101	9	0.19590	T	0.45	.	4.162	0.10289	0.0:0.5069:0.0:0.4931	.	1218	P20930	FILA_HUMAN	T	1218	ENSP00000357789:R1218T	ENSP00000357789:R1218T	R	-	2	0	FLG	150550333	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-2.467000	0.00993	-0.125000	0.11703	0.186000	0.17326	AGA		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		126	378	0	0	0	0	126	378				
FLG	2312	broad.mit.edu	37	1	152283989	152283989	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:152283989C>T	ENST00000368799.1	-	3	3408	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1125	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGACTGTTCATGAGTGCTC	0.607									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3373-3375)GAA>AAA		filaggrin							198.0	229.0	218.0					1																	152283989		2203	4299	6502	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283989C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3373G>A	1.37:g.152283989C>T	ENSP00000357789:p.Glu1125Lys					uc001ezv.2_5'Flank	p.E1125K	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3409	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1125			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3373G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.704	0.910376	0.17833	.	.	ENSG00000143631	ENST00000368799	T	0.01665	4.7	3.09	-6.19	0.02078	.	.	.	.	.	T	0.00608	0.0020	M	0.77616	2.38	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50259	-0.8849	9	0.07030	T	0.85	.	5.7373	0.18073	0.0:0.1892:0.4844:0.3264	.	1125	P20930	FILA_HUMAN	K	1125	ENSP00000357789:E1125K	ENSP00000357789:E1125K	E	-	1	0	FLG	150550613	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-2.313000	0.01126	-0.929000	0.03757	-0.723000	0.03601	GAA		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		124	299	0	0	0	0	124	299				
FLG2	388698	broad.mit.edu	37	1	152323370	152323370	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:152323370G>A	ENST00000388718.5	-	3	6964	c.6892C>T	c.(6892-6894)Cat>Tat	p.H2298Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2298					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGTCCATGAGTAGTTTCC	0.483																																						uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(6892-6894)CAT>TAT		filaggrin family member 2							297.0	270.0	279.0					1																	152323370		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323370G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6892C>T	1.37:g.152323370G>A	ENSP00000373370:p.His2298Tyr					uc001ezv.2_Intron	p.H2298Y	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6965	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2298					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6892C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	8.220	0.802282	0.16397	.	.	ENSG00000143520	ENST00000388718	T	0.37915	1.17	4.24	1.34	0.21922	.	.	.	.	.	T	0.35682	0.0940	M	0.79258	2.445	0.09310	N	1	D	0.62365	0.991	D	0.72982	0.979	T	0.14448	-1.0472	9	0.18710	T	0.47	-0.4202	6.0559	0.19811	0.3275:0.0:0.6725:0.0	.	2298	Q5D862	FILA2_HUMAN	Y	2298	ENSP00000373370:H2298Y	ENSP00000373370:H2298Y	H	-	1	0	FLG2	150589994	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.541000	0.23207	0.575000	0.29434	-0.261000	0.10672	CAT		0.483	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		25	313	0	0	0	0	25	313				
KPRP	448834	broad.mit.edu	37	1	152732722	152732722	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:152732722C>T	ENST00000606109.1	+	1	686	c.658C>T	c.(658-660)Cag>Tag	p.Q220*	KPRP_ENST00000368773.1_Nonsense_Mutation_p.Q220*			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	220						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTTTCCCTCAGTATCGGTC	0.577																																						uc001fal.1		NA																	0				ovary(4)|pancreas(1)	5						c.(658-660)CAG>TAG		keratinocyte proline-rich protein							135.0	135.0	135.0					1																	152732722		2203	4300	6503	SO:0001587	stop_gained	448834					cytoplasm		g.chr1:152732722C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.658C>T	1.37:g.152732722C>T	ENSP00000475216:p.Gln220*						p.Q220*	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	716	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		220						Nonsense_Mutation	SNP	ENST00000606109.1	37	c.658C>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912835	0.52439	.	.	ENSG00000203786	ENST00000368773	.	.	.	5.1	5.1	0.69264	.	0.000000	0.46145	D	0.000310	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.2189	14.3741	0.66862	0.0:1.0:0.0:0.0	.	.	.	.	X	220	.	ENSP00000357762:Q220X	Q	+	1	0	KPRP	150999346	0.396000	0.25262	0.911000	0.35937	0.045000	0.14185	3.451000	0.52964	2.522000	0.85027	0.655000	0.94253	CAG		0.577	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		9	138	0	0	0	0	9	138				
S100A16	140576	broad.mit.edu	37	1	153580541	153580541	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:153580541G>C	ENST00000368704.1	-	2	272	c.87C>G	c.(85-87)gtC>gtG	p.V29V	S100A16_ENST00000368706.4_Silent_p.V29V|S100A16_ENST00000368703.2_Silent_p.V29V|S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368705.2_Silent_p.V29V			Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	29	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(1)|prostate(1)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTTGTTCTTGACCAGGCTGT	0.532																																					Melanoma(71;1388 1729 37039 46098)	uc001fcc.2		NA																	0					0						c.(85-87)GTC>GTG		S100 calcium binding protein A16							128.0	104.0	112.0					1																	153580541		2203	4300	6503	SO:0001819	synonymous_variant	140576					cytosol|nucleolus	calcium ion binding|protein homodimerization activity	g.chr1:153580541G>C	BC010541	CCDS1045.1	1q21	2014-01-28			ENSG00000188643	ENSG00000188643		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	20441	protein-coding gene	gene with protein product						9417904	Standard	NM_080388		Approved	S100F, DT1P1A7, MGC17528	uc001fcd.1	Q96FQ6	OTTHUMG00000013545	ENST00000368704.1:c.87C>G	1.37:g.153580541G>C						S100A16_uc001fcd.1_Silent_p.V29V	p.V29V	NM_080388	NP_525127	Q96FQ6	S10AG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	220	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		29			1; low affinity (Potential).|EF-hand 1.		A8K439|D3DV52|Q5RHS6	Silent	SNP	ENST00000368704.1	37	c.87C>G	CCDS1045.1																																																																																				0.532	S100A16-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037713.1	NM_080388		13	46	0	0	0	0	13	46				
S100A14	57402	broad.mit.edu	37	1	153587810	153587810	+	Missense_Mutation	SNP	G	G	C	rs559135302	byFrequency	TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:153587810G>C	ENST00000368702.1	-	4	350	c.78C>G	c.(76-78)atC>atG	p.I26M	S100A16_ENST00000368706.4_5'Flank|S100A14_ENST00000368701.1_Missense_Mutation_p.I26M|S100A14_ENST00000344616.2_Missense_Mutation_p.I26M|S100A16_ENST00000474991.1_5'Flank|S100A14_ENST00000476873.1_Missense_Mutation_p.I26M|S100A14_ENST00000368700.3_5'UTR			Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14	26					apoptotic process (GO:0006915)|calcium ion homeostasis (GO:0055074)|defense response to bacterium (GO:0042742)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)	extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|chemokine receptor binding (GO:0042379)			kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAAAGTTCTTGATGAGGGTCT	0.572																																						uc001fce.2		NA																	0					0						c.(76-78)ATC>ATG		S100 calcium binding protein A14							105.0	95.0	99.0					1																	153587810		2203	4300	6503	SO:0001583	missense	57402				calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding	g.chr1:153587810G>C	AY007220	CCDS1046.1	1q21.1	2008-02-05			ENSG00000189334	ENSG00000189334		"""S100 calcium binding proteins"""	18901	protein-coding gene	gene with protein product		607986				11944983	Standard	NM_020672		Approved	S100A15, BCMP84	uc001fce.3	Q9HCY8	OTTHUMG00000035030	ENST00000368702.1:c.78C>G	1.37:g.153587810G>C	ENSP00000357691:p.Ile26Met					S100A16_uc001fcd.1_5'Flank	p.I26M	NM_020672	NP_065723	Q9HCY8	S10AE_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	176	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		26					Q5RHT0	Missense_Mutation	SNP	ENST00000368702.1	37	c.78C>G	CCDS1046.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728935	0.30684	.	.	ENSG00000189334	ENST00000476873;ENST00000368701;ENST00000368702;ENST00000344616	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	4.98	4.98	0.66077	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.052247	0.85682	D	0.000000	T	0.27866	0.0686	L	0.47190	1.495	0.33785	D	0.624776	D	0.69078	0.997	D	0.81914	0.995	T	0.02109	-1.1212	10	0.48119	T	0.1	-26.8549	13.6171	0.62115	0.0:0.0:1.0:0.0	.	26	Q9HCY8	S10AE_HUMAN	M	26	ENSP00000420296:I26M;ENSP00000357690:I26M;ENSP00000357691:I26M;ENSP00000340463:I26M	ENSP00000340463:I26M	I	-	3	3	S100A14	151854434	1.000000	0.71417	1.000000	0.80357	0.041000	0.13682	3.672000	0.54583	2.586000	0.87340	0.561000	0.74099	ATC		0.572	S100A14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084788.2	NM_020672		20	38	0	0	0	0	20	38				
NPR1	4881	broad.mit.edu	37	1	153661438	153661438	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:153661438C>T	ENST00000368680.3	+	16	2899	c.2427C>T	c.(2425-2427)agC>agT	p.S809S		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	809					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GGGAGAACAGCAGCAACATCC	0.637																																					Pancreas(141;1349 1870 15144 15830 40702)	uc001fcs.3		NA																	0				ovary(3)|lung(2)|stomach(1)|breast(1)	7						c.(2425-2427)AGC>AGT		natriuretic peptide receptor 1 precursor	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						99.0	88.0	91.0					1																	153661438		2203	4300	6503	SO:0001819	synonymous_variant	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153661438C>T	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2427C>T	1.37:g.153661438C>T						NPR1_uc010pdz.1_Silent_p.S555S|NPR1_uc010pea.1_Silent_p.S287S	p.S809S	NM_000906	NP_000897	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		16	2848	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		809			Cytoplasmic (Potential).		B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	37	c.2427C>T	CCDS1051.1																																																																																				0.637	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		32	100	0	0	0	0	32	100				
GATAD2B	57459	broad.mit.edu	37	1	153790563	153790563	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:153790563G>A	ENST00000368655.4	-	5	925	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	228					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R228W(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCCCCAGGCCGAGAGGGAAGC	0.522																																						uc001fdb.3		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(682-684)CGG>TGG		GATA zinc finger domain containing 2B							127.0	130.0	129.0					1																	153790563		2203	4300	6503	SO:0001583	missense	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153790563G>A	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.682C>T	1.37:g.153790563G>A	ENSP00000357644:p.Arg228Trp						p.R228W	NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	926	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		228					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	c.682C>T	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167776	0.78339	.	.	ENSG00000143614	ENST00000368655	T	0.35048	1.33	5.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.42131	0.1189	L	0.36672	1.1	0.58432	D	0.999998	D	0.89917	1.0	D	0.71414	0.973	T	0.35325	-0.9793	10	0.72032	D	0.01	-15.4977	16.4731	0.84124	0.0:0.0:0.8601:0.1399	.	228	Q8WXI9	P66B_HUMAN	W	228	ENSP00000357644:R228W	ENSP00000357644:R228W	R	-	1	2	GATAD2B	152057187	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.644000	0.46613	2.712000	0.92718	0.407000	0.27541	CGG		0.522	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		46	129	0	0	0	0	46	129				
DENND4B	9909	broad.mit.edu	37	1	153911479	153911479	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:153911479G>C	ENST00000361217.4	-	13	2280	c.1862C>G	c.(1861-1863)tCt>tGt	p.S621C		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	621	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCAGCTGAGAGTAAAGTTT	0.537																																						uc001fdd.1		NA																	0				ovary(1)	1						c.(1861-1863)TCT>TGT		DENN/MADD domain containing 4B							82.0	89.0	86.0					1																	153911479		2069	4196	6265	SO:0001583	missense	9909							g.chr1:153911479G>C	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1862C>G	1.37:g.153911479G>C	ENSP00000354597:p.Ser621Cys						p.S621C	NM_014856	NP_055671	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		13	2263	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		621			dDENN.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.1862C>G	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532181	0.64972	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.49432	0.78;0.78	4.9	4.9	0.64082	dDENN (3);	0.889849	0.09881	N	0.743704	T	0.32852	0.0843	L	0.53249	1.67	0.28412	N	0.918154	P	0.45078	0.85	P	0.44597	0.454	T	0.24368	-1.0162	10	0.62326	D	0.03	-16.5671	8.4173	0.32678	0.0:0.1667:0.6609:0.1724	.	621	O75064	DEN4B_HUMAN	C	621;632	ENSP00000354597:S621C;ENSP00000357635:S632C	ENSP00000354597:S621C	S	-	2	0	DENND4B	152178103	0.006000	0.16342	0.995000	0.50966	0.995000	0.86356	0.514000	0.22786	2.557000	0.86248	0.555000	0.69702	TCT		0.537	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		4	17	0	0	0	0	4	17				
HAX1	10456	broad.mit.edu	37	1	154246316	154246316	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:154246316C>G	ENST00000328703.7	+	3	596	c.383C>G	c.(382-384)tCa>tGa	p.S128*	HAX1_ENST00000483970.2_Nonsense_Mutation_p.S136*|HAX1_ENST00000457918.2_Nonsense_Mutation_p.S80*|HAX1_ENST00000532105.1_5'UTR	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	128	Involved in HCLS1 binding.	Cleavage; by caspase-3.			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)			CTTCGGGACTCAATGCTTAAG	0.557									Kostmann syndrome																													uc001fes.2		NA																	0					0						c.(382-384)TCA>TGA		HCLS1 associated protein X-1 isoform a							99.0	105.0	103.0					1																	154246316		2203	4300	6503	SO:0001587	stop_gained	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.chr1:154246316C>G	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.383C>G	1.37:g.154246316C>G	ENSP00000329002:p.Ser128*					HAX1_uc001fet.2_Nonsense_Mutation_p.S80*|HAX1_uc010peo.1_Nonsense_Mutation_p.S136*|HAX1_uc009wou.2_Nonsense_Mutation_p.S53*|HAX1_uc009wov.2_Nonsense_Mutation_p.S102*	p.S128*	NM_006118	NP_006109	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	544	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		128			Involved in HCLS1 binding.	Cleavage; by caspase-3.	A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Nonsense_Mutation	SNP	ENST00000328703.7	37	c.383C>G	CCDS1064.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.753274|6.753274	0.97813|0.97813	.|.	.|.	ENSG00000143575|ENSG00000143575	ENST00000435087|ENST00000328703;ENST00000457918;ENST00000483970	T|.	0.48836|.	0.8|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.072028	.|0.64402	.|D	.|0.000020	T|.	0.66218|.	0.2767|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.63808|.	-0.6553|.	6|.	0.02654|0.39692	T|T	1|0.17	-4.1082|-4.1082	16.6575|16.6575	0.85232|0.85232	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	107|128;80;136	ENSP00000394920:Q107E|.	ENSP00000394920:Q107E|ENSP00000329002:S128X	Q|S	+|+	1|2	0|0	HAX1|HAX1	152512940|152512940	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.622000|2.622000	0.46427|0.46427	2.708000|2.708000	0.92522|0.92522	0.563000|0.563000	0.77884|0.77884	CAA|TCA		0.557	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		26	103	0	0	0	0	26	103				
RUSC1	23623	broad.mit.edu	37	1	155295461	155295461	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:155295461C>T	ENST00000368352.5	+	6	1963	c.1812C>T	c.(1810-1812)ctC>ctT	p.L604L	RUSC1_ENST00000462780.1_3'UTR|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000292254.4_Silent_p.L135L|RUSC1_ENST00000368354.3_Silent_p.L604L|RUSC1_ENST00000368349.4_Silent_p.L135L|RUSC1_ENST00000368347.4_Silent_p.L194L|RUSC1-AS1_ENST00000450199.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	604	Interaction with TRAF6.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TGGGCCTCCTCAAGTGAGTTG	0.612																																						uc001fkj.2		NA																	0				ovary(2)	2						c.(1810-1812)CTC>CTT		RUN and SH3 domain containing 1 isoform a							64.0	60.0	61.0					1																	155295461		2203	4300	6503	SO:0001819	synonymous_variant	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155295461C>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1812C>T	1.37:g.155295461C>T						RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fki.2_5'Flank|RUSC1_uc001fkk.2_Silent_p.L604L|RUSC1_uc009wqn.1_Intron|RUSC1_uc009wqo.1_Silent_p.L135L|RUSC1_uc001fkl.2_Silent_p.L194L|RUSC1_uc001fkp.2_Silent_p.L135L|RUSC1_uc001fkq.2_Silent_p.L135L|RUSC1_uc010pgb.1_Silent_p.L102L|RUSC1_uc009wqp.1_Silent_p.L129L|RUSC1_uc001fkn.2_5'UTR|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Silent_p.L135L|RUSC1_uc001fks.2_5'UTR	p.L604L	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		6	2041	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		604			RUN.		B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	ENST00000368352.5	37	c.1812C>T	CCDS41410.1																																																																																				0.612	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			9	15	0	0	0	0	9	15				
BCAN	63827	broad.mit.edu	37	1	156621404	156621405	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:156621404_156621405CC>TT	ENST00000329117.5	+	7	1556_1557	c.1220_1221CC>TT	c.(1219-1221)tCC>tTT	p.S407F	BCAN_ENST00000361588.5_Missense_Mutation_p.S407F|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	407	Glu-rich.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|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)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCATCTACTCCATCCCCATCA	0.574																																						uc001fpp.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1219-1221)TCC>TTT		brevican isoform 1																																				SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156621404_156621405CC>TT	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	Exception_encountered	1.37:g.156621404_156621405delinsTT	ENSP00000331210:p.Ser407Phe					BCAN_uc001fpo.2_Missense_Mutation_p.S407F	p.S407F	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			7	1556_1557	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		407			Glu-rich.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	DNP	ENST00000329117.5	37	c.1220_1221CC>TT	CCDS1149.1																																																																																				0.574	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		9	90	0	0	0	0	9	90				
FCRL4	83417	broad.mit.edu	37	1	157556066	157556066	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:157556066C>G	ENST00000271532.1	-	6	1162	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	343	Ig-like C2-type 4.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGCTCCAGCTCTGCTCTCAGG	0.582																																						uc001fqw.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1027-1029)GAG>CAG		Fc receptor-like 4 precursor							105.0	92.0	96.0					1																	157556066		2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157556066C>G	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1027G>C	1.37:g.157556066C>G	ENSP00000271532:p.Glu343Gln					FCRL4_uc010phy.1_RNA	p.E343Q	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			6	1163	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	343			Ig-like C2-type 4.|Extracellular (Potential).		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.1027G>C	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372729	0.42003	.	.	ENSG00000163518	ENST00000271532	D	0.83755	-1.76	4.23	4.23	0.50019	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.374672	0.19351	N	0.116396	D	0.86573	0.5965	M	0.86178	2.8	0.26798	N	0.96926	D	0.76494	0.999	D	0.79108	0.992	T	0.78568	-0.2154	10	0.17369	T	0.5	.	12.2962	0.54847	0.0:1.0:0.0:0.0	.	343	Q96PJ5	FCRL4_HUMAN	Q	343	ENSP00000271532:E343Q	ENSP00000271532:E343Q	E	-	1	0	FCRL4	155822690	0.822000	0.29219	0.998000	0.56505	0.114000	0.19823	1.358000	0.34102	2.313000	0.78055	0.467000	0.42956	GAG		0.582	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		24	70	0	0	0	0	24	70				
F11R	50848	broad.mit.edu	37	1	160970527	160970527	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:160970527G>A	ENST00000368026.6	-	4	556	c.282C>T	c.(280-282)atC>atT	p.I94I	F11R_ENST00000537746.1_Intron|F11R_ENST00000472573.1_5'UTR|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	94	Ig-like V-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			ACTTGAAGGTGATACCAGTTG	0.537																																						uc009wtt.2		NA																	0				ovary(2)	2						c.(280-282)ATC>ATT		F11 receptor precursor							151.0	110.0	124.0					1																	160970527		2203	4300	6503	SO:0001819	synonymous_variant	50848				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction		g.chr1:160970527G>A	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.282C>T	1.37:g.160970527G>A						F11R_uc010pjv.1_Intron|F11R_uc001fxe.3_Silent_p.I94I|F11R_uc009wtu.2_Silent_p.I94I|F11R_uc010pjw.1_Silent_p.I98I|F11R_uc001fxf.3_Silent_p.I94I	p.I94I	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00207)		4	552	-	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		94			Extracellular (Potential).|Ig-like V-type 1.		B7Z941	Silent	SNP	ENST00000368026.6	37	c.282C>T	CCDS1213.1																																																																																				0.537	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946		9	46	0	0	0	0	9	46				
NR1I3	9970	broad.mit.edu	37	1	161199674	161199674	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:161199674C>G	ENST00000367982.4	-	9	1127	c.972G>C	c.(970-972)cgG>cgC	p.R324R	NR1I3_ENST00000367981.3_Silent_p.R296R|NR1I3_ENST00000511676.1_Silent_p.R291R|NR1I3_ENST00000502985.1_3'UTR|NR1I3_ENST00000504010.1_Silent_p.R252R|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000515621.1_Silent_p.R245R|TOMM40L_ENST00000367987.1_3'UTR|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000508387.1_3'UTR|NR1I3_ENST00000367983.4_Silent_p.R320R|NR1I3_ENST00000367979.2_Silent_p.R329R|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000442691.2_Intron|MIR5187_ENST00000583479.1_RNA|NR1I3_ENST00000505005.1_Intron|NR1I3_ENST00000428574.2_Intron|NR1I3_ENST00000367984.4_Silent_p.R281R|TOMM40L_ENST00000367988.3_3'UTR|NR1I3_ENST00000511944.1_Intron|TOMM40L_ENST00000474486.1_3'UTR|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000367980.2_Silent_p.R329R|NR1I3_ENST00000367985.3_Silent_p.R286R			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	324					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)			CATTAATGCTCCGGAGCTCAG	0.557																																						uc001fzx.2		NA																	0				ovary(1)|skin(1)	2						c.(970-972)CGG>CGC		constitutive androstane receptor isoform 2							86.0	78.0	81.0					1																	161199674		2203	4300	6503	SO:0001819	synonymous_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.chr1:161199674C>G	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.972G>C	1.37:g.161199674C>G						TOMM40L_uc010pkl.1_3'UTR|TOMM40L_uc001fzd.2_3'UTR|TOMM40L_uc009wue.2_3'UTR|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_3'UTR|NR1I3_uc001fzf.2_Intron|NR1I3_uc001fzg.2_Intron|NR1I3_uc001fzh.2_Silent_p.R296R|NR1I3_uc001fzi.2_Intron|NR1I3_uc001fzj.2_Silent_p.R291R|NR1I3_uc001fzk.2_Intron|NR1I3_uc001fzl.2_Silent_p.R252R|NR1I3_uc001fzm.2_Silent_p.R245R|NR1I3_uc001fzn.2_Silent_p.R114R|NR1I3_uc009wug.2_Intron|NR1I3_uc001fzp.2_Silent_p.R329R|NR1I3_uc001fzo.2_Silent_p.R153R|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_3'UTR|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Silent_p.R114R|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_3'UTR|NR1I3_uc001fzw.2_Intron|NR1I3_uc001fzy.2_Silent_p.R320R|NR1I3_uc001fzz.2_Silent_p.R286R|NR1I3_uc001gaa.2_Intron|NR1I3_uc001gab.2_Silent_p.R281R|NR1I3_uc001gac.2_Intron	p.R324R	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		9	1175	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		324					E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Silent	SNP	ENST00000367982.4	37	c.972G>C	CCDS41430.1																																																																																				0.557	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			15	44	0	0	0	0	15	44				
FCGR2A	2212	broad.mit.edu	37	1	161476260	161476260	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:161476260C>G	ENST00000271450.6	+	3	281	c.243C>G	c.(241-243)ctC>ctG	p.L81L	FCGR2A_ENST00000367972.4_Silent_p.L80L	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	81	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATGGGAATCTCATTCCCACCC	0.597																																						uc001gan.2		NA																	0				ovary(1)	1						c.(241-243)CTC>CTG		Fc fragment of IgG, low affinity IIa, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						77.0	73.0	74.0					1																	161476260		2203	4298	6501	SO:0001819	synonymous_variant	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161476260C>G	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.243C>G	1.37:g.161476260C>G						FCGR2A_uc001gam.2_Silent_p.L80L|FCGR2A_uc001gao.2_RNA	p.L81L	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	296	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		81			Extracellular (Potential).|Ig-like C2-type 1.		Q8WUN1|Q8WW64	Silent	SNP	ENST00000271450.6	37	c.243C>G	CCDS44264.1																																																																																				0.597	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		13	75	0	0	0	0	13	75				
UHMK1	127933	broad.mit.edu	37	1	162470803	162470803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:162470803C>T	ENST00000489294.1	+	3	820	c.662C>T	c.(661-663)tCa>tTa	p.S221L	UHMK1_ENST00000545294.1_Missense_Mutation_p.S147L|UHMK1_ENST00000538489.1_Missense_Mutation_p.S221L|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GAATGTACCTCAGCTGTTGAT	0.443																																						uc001gcc.1		NA																	0					0						c.(661-663)TCA>TTA		kinase interacting stathmin							98.0	92.0	94.0					1																	162470803		2203	4300	6503	SO:0001583	missense	127933				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding	g.chr1:162470803C>T	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.662C>T	1.37:g.162470803C>T	ENSP00000420270:p.Ser221Leu					UHMK1_uc001gcb.1_Missense_Mutation_p.S147L|UHMK1_uc009wuu.1_Missense_Mutation_p.S221L	p.S221L	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		3	798	+	all_hematologic(112;0.115)		221			Protein kinase.		A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	ENST00000489294.1	37	c.662C>T	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189786	0.57909	.	.	ENSG00000152332	ENST00000545294;ENST00000538489;ENST00000489294	T;T;T	0.66280	-0.2;-0.2;-0.2	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.502354	0.19965	N	0.102134	T	0.30198	0.0757	N	0.20685	0.6	.	.	.	B;B;B	0.14805	0.009;0.011;0.009	B;B;B	0.17098	0.017;0.017;0.004	T	0.05533	-1.0879	9	0.14656	T	0.56	-1.1001	15.4351	0.75140	0.0:1.0:0.0:0.0	.	221;221;147	Q8TAS1-2;Q8TAS1;G3V1M1	.;UHMK1_HUMAN;.	L	147;221;221	ENSP00000441226:S147L;ENSP00000446416:S221L;ENSP00000420270:S221L	ENSP00000420270:S221L	S	+	2	0	UHMK1	160737427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.111000	0.64628	2.740000	0.93945	0.650000	0.86243	TCA		0.443	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866		6	39	0	0	0	0	6	39				
TEX35	84066	broad.mit.edu	37	1	178491564	178491564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:178491564G>A	ENST00000319416.2	+	9	803	c.691G>A	c.(691-693)Gag>Aag	p.E231K	TEX35_ENST00000367641.3_3'UTR|TEX35_ENST00000367639.1_Intron|TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000258298.2_Intron	NM_032126.4	NP_115502.2			testis expressed 35																		gtcccagactgagggaaggtg	0.522																																						uc001glt.1		NA																	0					0						c.(691-693)GAG>AAG		hypothetical protein LOC84066							33.0	28.0	30.0					1																	178491564		2203	4300	6503	SO:0001583	missense	84066					microtubule cytoskeleton		g.chr1:178491564G>A	AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021			25366	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 24kDa"""		"""chromosome 1 open reading frame 49"""	C1orf49		11230166, 17077512	Standard	NM_032126		Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000319416.2:c.691G>A	1.37:g.178491564G>A	ENSP00000323795:p.Glu231Lys					C1orf49_uc001glu.1_3'UTR|C1orf49_uc001glv.1_Intron|C1orf49_uc001glw.1_Intron	p.E231K	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN			9	803	+			231						Missense_Mutation	SNP	ENST00000319416.2	37	c.691G>A	CCDS1323.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.428287	0.25726	.	.	ENSG00000240021	ENST00000319416	T	0.21031	2.03	2.47	-1.47	0.08772	.	.	.	.	.	T	0.08133	0.0203	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.34925	-0.9809	9	0.26408	T	0.33	7.662	2.8562	0.05573	0.4673:0.2471:0.2856:0.0	.	231	Q5T0J7	CA049_HUMAN	K	231	ENSP00000323795:E231K	ENSP00000323795:E231K	E	+	1	0	C1orf49	176758187	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-0.728000	0.04925	-0.318000	0.08665	0.543000	0.68304	GAG		0.522	TEX35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084917.1	NM_032126		5	9	0	0	0	0	5	9				
DHX9	1660	broad.mit.edu	37	1	182853912	182853912	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:182853912C>T	ENST00000367549.3	+	27	3535	c.3425C>T	c.(3424-3426)tCa>tTa	p.S1142L	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1142					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TCTAGACCCTCAGCTGCTGGT	0.448																																					Colon(69;210 1162 3697 13559 39565)	uc001gpr.2		NA																	0				ovary(2)	2						c.(3424-3426)TCA>TTA		DEAH (Asp-Glu-Ala-His) box polypeptide 9							130.0	117.0	121.0					1																	182853912		1957	4173	6130	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182853912C>T	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.3425C>T	1.37:g.182853912C>T	ENSP00000356520:p.Ser1142Leu					DHX9_uc001gps.2_Missense_Mutation_p.S928L|DHX9_uc001gpt.2_Missense_Mutation_p.S421L|DHX9_uc009wyd.2_Missense_Mutation_p.S107L	p.S1142L	NM_001357	NP_001348	Q08211	DHX9_HUMAN			27	3588	+			1142					B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.3425C>T	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241706	0.58995	.	.	ENSG00000135829	ENST00000367549	T	0.60797	0.16	5.58	5.58	0.84498	.	0.145321	0.45867	D	0.000326	T	0.50120	0.1597	L	0.44542	1.39	0.49299	D	0.999775	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.40021	-0.9585	10	0.37606	T	0.19	.	14.1588	0.65434	0.0:0.9283:0.0:0.0717	.	421;1142	B3KU66;Q08211	.;DHX9_HUMAN	L	1142	ENSP00000356520:S1142L	ENSP00000356520:S1142L	S	+	2	0	DHX9	181120535	0.940000	0.31905	0.998000	0.56505	0.887000	0.51463	5.262000	0.65501	2.782000	0.95742	0.655000	0.94253	TCA		0.448	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		29	63	0	0	0	0	29	63				
OCLM	10896	broad.mit.edu	37	1	186370311	186370311	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:186370311G>C	ENST00000574641.1	+	1	608	c.134G>C	c.(133-135)tGa>tCa	p.*45S	C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000287859.6_Intron|C1orf27_ENST00000432021.3_Intron	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN	oculomedin	0					visual perception (GO:0007601)												TTAGTACTTTGAAATTTTTGC	0.289																																						uc001gry.2		NA																	0					0						c.(133-135)TGA>TCA		oculomedin							77.0	70.0	72.0					1																	186370311		1793	4067	5860	SO:0001578	stop_lost	10896				visual perception			g.chr1:186370311G>C	AF142063	CCDS58051.1	1q31.1	2013-09-24			ENSG00000262180	ENSG00000262180			8103	protein-coding gene	gene with protein product		604301				10362512	Standard	NM_022375		Approved		uc001gry.3	Q9Y5M6	OTTHUMG00000177601	ENST00000574641.1:c.134G>C	1.37:g.186370311G>C	ENSP00000460371:p.*45Serext*4					C1orf27_uc001grw.2_Intron|C1orf27_uc010poq.1_Intron|C1orf27_uc010por.1_Intron	p.*45S	NM_022375	NP_071770	Q9Y5M6	TISR_HUMAN			1	608	+			45					Q4G0F9	Nonstop_Mutation	SNP	ENST00000574641.1	37	c.134G>C	CCDS58051.1																																																																																				0.289	OCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438012.1	NM_022375		8	21	0	0	0	0	8	21				
B3GALT2	8707	broad.mit.edu	37	1	193150249	193150249	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:193150249C>T	ENST00000367434.4	-	2	1199	c.444G>A	c.(442-444)gaG>gaA	p.E148E	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	148					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AAGGACTTTTCTCTTGGCATT	0.368																																						uc001gtc.3		NA																	0				ovary(1)	1						c.(442-444)GAG>GAA		UDP-Gal:betaGlcNAc beta							95.0	102.0	100.0					1																	193150249		2203	4299	6502	SO:0001819	synonymous_variant	8707				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr1:193150249C>T	Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.444G>A	1.37:g.193150249C>T						CDC73_uc001gtb.2_Intron	p.E148E	NM_003783	NP_003774	O43825	B3GT2_HUMAN			2	1159	-			148			Lumenal (Potential).		B2RAB1|Q9BZQ9	Silent	SNP	ENST00000367434.4	37	c.444G>A	CCDS1383.1																																																																																				0.368	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783		29	67	0	0	0	0	29	67				
KDM5B	10765	broad.mit.edu	37	1	202725518	202725518	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:202725518C>G	ENST00000367265.3	-	10	2488	c.1324G>C	c.(1324-1326)Gat>Cat	p.D442H	KDM5B_ENST00000367264.2_Missense_Mutation_p.D478H|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	442					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATTTTCCCATCTCGGACAGGA	0.418																																						uc001gyf.2		NA																	0				ovary(2)|breast(2)|urinary_tract(1)	5						c.(1324-1326)GAT>CAT		jumonji, AT rich interactive domain 1B							177.0	172.0	174.0					1																	202725518		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202725518C>G	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1324G>C	1.37:g.202725518C>G	ENSP00000356234:p.Asp442His					KDM5B_uc009xag.2_Missense_Mutation_p.D478H|KDM5B_uc001gyg.1_Missense_Mutation_p.D284H	p.D442H	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			10	1440	-			442					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.1324G>C	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262748	0.59431	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;D	0.86627	-0.51;-0.51;-2.15	5.96	5.96	0.96718	.	0.043501	0.85682	D	0.000000	D	0.91369	0.7277	L	0.57536	1.79	0.50813	D	0.999896	D;B	0.59357	0.985;0.066	P;B	0.57057	0.812;0.071	D	0.91274	0.5046	10	0.72032	D	0.01	-25.4867	20.422	0.99049	0.0:1.0:0.0:0.0	.	478;442	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	H	442;284;478;284	ENSP00000356234:D442H;ENSP00000356233:D478H;ENSP00000235790:D284H	ENSP00000235790:D284H	D	-	1	0	KDM5B	200992141	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.805000	0.62561	2.832000	0.97577	0.655000	0.94253	GAT		0.418	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		40	92	0	0	0	0	40	92				
DSTYK	25778	broad.mit.edu	37	1	205138659	205138659	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:205138659T>C	ENST00000367162.3	-	3	986	c.956A>G	c.(955-957)aAc>aGc	p.N319S	DSTYK_ENST00000367161.3_Missense_Mutation_p.N319S|DSTYK_ENST00000367160.4_Missense_Mutation_p.N319S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	319					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AGCCCCACAGTTCCAGTGACT	0.498																																						uc001hbw.2		NA																	0				lung(1)	1						c.(955-957)AAC>AGC		receptor interacting protein kinase 5 isoform 1							79.0	78.0	79.0					1																	205138659		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205138659T>C	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.956A>G	1.37:g.205138659T>C	ENSP00000356130:p.Asn319Ser					DSTYK_uc001hbx.2_Missense_Mutation_p.N319S|DSTYK_uc001hby.1_Intron	p.N319S	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN			3	1020	-			319					B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.956A>G	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	T	9.004	0.980708	0.18812	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	T;T;T	0.78364	-0.73;-1.11;-1.17	5.5	4.38	0.52667	.	0.222920	0.46442	D	0.000286	T	0.59211	0.2177	N	0.16743	0.435	0.43160	D	0.99494	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.002	T	0.56105	-0.8034	10	0.34782	T	0.22	-27.4777	7.036	0.24993	0.0:0.1753:0.0:0.8247	.	319;319	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	S	319	ENSP00000356128:N319S;ENSP00000356129:N319S;ENSP00000356130:N319S	ENSP00000356128:N319S	N	-	2	0	DSTYK	203405282	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.048000	0.41278	2.076000	0.62316	0.533000	0.62120	AAC		0.498	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		10	52	0	0	0	0	10	52				
SLC41A1	254428	broad.mit.edu	37	1	205779420	205779420	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:205779420C>G	ENST00000367137.3	-	2	1164	c.150G>C	c.(148-150)gtG>gtC	p.V50V		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	50					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GAGACTCAATCACCACCTCTA	0.642											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hdh.1		NA																	0				skin(2)	2						c.(148-150)GTG>GTC		solute carrier family 41 member 1							87.0	78.0	81.0					1																	205779420		2203	4300	6503	SO:0001819	synonymous_variant	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205779420C>G	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.150G>C	1.37:g.205779420C>G			OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2154		p.V50V	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		2	1022	-	Breast(84;0.0799)		50					Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Silent	SNP	ENST00000367137.3	37	c.150G>C	CCDS30988.1																																																																																				0.642	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			7	76	0	0	0	0	7	76				
SYT14	255928	broad.mit.edu	37	1	210334211	210334211	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:210334211G>A	ENST00000472886.1	+	8	1506	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N	SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000367019.1_Missense_Mutation_p.D517N|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000422431.1_Missense_Mutation_p.D562N|SYT14_ENST00000534859.1_Missense_Mutation_p.D524N|SYT14_ENST00000537238.1_Missense_Mutation_p.D460N|SYT14_ENST00000367015.1_Missense_Mutation_p.D460N			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	498	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TCAGCTTTCTGATGTGACACT	0.418																																						uc009xcv.2		NA																	0				ovary(1)|skin(1)	2						c.(1492-1494)GAT>AAT		synaptotagmin XIV isoform 4							144.0	145.0	144.0					1																	210334211		2203	4299	6502	SO:0001583	missense	255928					integral to membrane		g.chr1:210334211G>A	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1492G>A	1.37:g.210334211G>A	ENSP00000418901:p.Asp498Asn					SYT14_uc001hhs.3_Missense_Mutation_p.D562N|SYT14_uc001hht.3_Missense_Mutation_p.D517N|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.D543N|SYT14_uc010pso.1_Missense_Mutation_p.D460N|SYT14_uc010psp.1_Missense_Mutation_p.D36N	p.D498N	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	8	1564	+			498			Cytoplasmic (Potential).|C2 2.		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.1492G>A	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645926	0.67358	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	5.84	5.84	0.93424	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.048756	0.85682	D	0.000000	T	0.81168	0.4766	L	0.53249	1.67	0.80722	D	1	D;D;P;D	0.57571	0.98;0.963;0.728;0.975	P;P;B;P	0.62740	0.906;0.827;0.223;0.875	T	0.79598	-0.1737	10	0.48119	T	0.1	-16.7171	20.1251	0.97974	0.0:0.0:1.0:0.0	.	545;498;517;562	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	N	562;524;460;517;498;460	ENSP00000389039:D562N;ENSP00000442891:D524N;ENSP00000437423:D460N;ENSP00000355986:D517N;ENSP00000418901:D498N;ENSP00000355982:D460N	ENSP00000355982:D460N	D	+	1	0	SYT14	208400834	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.394000	0.97261	2.751000	0.94390	0.585000	0.79938	GAT		0.418	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		18	76	0	0	0	0	18	76				
SYT14	255928	broad.mit.edu	37	1	210334216	210334216	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:210334216G>A	ENST00000472886.1	+	8	1511	c.1497G>A	c.(1495-1497)gtG>gtA	p.V499V	SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000367019.1_Silent_p.V518V|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000422431.1_Silent_p.V563V|SYT14_ENST00000534859.1_Silent_p.V525V|SYT14_ENST00000537238.1_Silent_p.V461V|SYT14_ENST00000367015.1_Silent_p.V461V			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	499	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TTTCTGATGTGACACTCATAC	0.418																																						uc009xcv.2		NA																	0				ovary(1)|skin(1)	2						c.(1495-1497)GTG>GTA		synaptotagmin XIV isoform 4							145.0	145.0	145.0					1																	210334216		2203	4299	6502	SO:0001819	synonymous_variant	255928					integral to membrane		g.chr1:210334216G>A	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1497G>A	1.37:g.210334216G>A						SYT14_uc001hhs.3_Silent_p.V563V|SYT14_uc001hht.3_Silent_p.V518V|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Silent_p.V544V|SYT14_uc010pso.1_Silent_p.V461V|SYT14_uc010psp.1_Silent_p.V37V	p.V499V	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	8	1569	+			499			Cytoplasmic (Potential).|C2 2.		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Silent	SNP	ENST00000472886.1	37	c.1497G>A	CCDS31014.1																																																																																				0.418	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		17	77	0	0	0	0	17	77				
ESRRG	2104	broad.mit.edu	37	1	216850530	216850530	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:216850530G>A	ENST00000408911.3	-	2	513	c.360C>T	c.(358-360)ctC>ctT	p.L120L	ESRRG_ENST00000463665.1_Silent_p.L97L|ESRRG_ENST00000493603.1_Silent_p.L97L|ESRRG_ENST00000366940.2_Silent_p.L97L|ESRRG_ENST00000366938.2_Silent_p.L97L|ESRRG_ENST00000366937.1_Silent_p.L125L|ESRRG_ENST00000493748.1_Silent_p.L97L|ESRRG_ENST00000391890.3_Silent_p.L97L|ESRRG_ENST00000361395.2_Silent_p.L97L|ESRRG_ENST00000361525.3_Silent_p.L97L|ESRRG_ENST00000359162.2_Silent_p.L97L|ESRRG_ENST00000487276.1_Silent_p.L97L|ESRRG_ENST00000360012.3_Silent_p.L97L	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	120					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)	GCATCGAGTTGAGCATGTATT	0.502																																						uc001hkw.1		NA																	0				ovary(1)|kidney(1)	2						c.(358-360)CTC>CTT		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						228.0	203.0	211.0					1																	216850530		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.chr1:216850530G>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.360C>T	1.37:g.216850530G>A						ESRRG_uc001hky.1_Silent_p.L97L|ESRRG_uc009xdp.1_Silent_p.L97L|ESRRG_uc001hkz.1_Silent_p.L97L|ESRRG_uc010puc.1_Silent_p.L97L|ESRRG_uc001hla.1_Silent_p.L97L|ESRRG_uc001hlb.1_Silent_p.L97L|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Silent_p.L97L|ESRRG_uc001hld.1_Silent_p.L97L|ESRRG_uc001hkx.1_Silent_p.L125L|ESRRG_uc009xdo.1_Silent_p.L97L|ESRRG_uc001hle.1_Silent_p.L97L	p.L120L	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	526	-			120					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	ENST00000408911.3	37	c.360C>T	CCDS41468.1																																																																																				0.502	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		23	103	0	0	0	0	23	103				
LYPLAL1	127018	broad.mit.edu	37	1	219384873	219384873	+	Nonsense_Mutation	SNP	C	C	T	rs140122550		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:219384873C>T	ENST00000366928.5	+	5	564	c.517C>T	c.(517-519)Cag>Tag	p.Q173*	LYPLAL1_ENST00000366927.3_Nonsense_Mutation_p.Q157*|LYPLAL1_ENST00000483635.1_3'UTR	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	173					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TGAATTATTTCAGTGTCATGG	0.353																																						uc001hlq.3		NA																	0					0						c.(517-519)CAG>TAG		lysophospholipase-like 1		C	stop/GLN	0,4406		0,0,2203	136.0	134.0	135.0		517	6.2	1.0	1	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	LYPLAL1	NM_138794.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		173/238	219384873	1,13005	2203	4300	6503	SO:0001587	stop_gained	127018					cytoplasm	lysophospholipase activity	g.chr1:219384873C>T	BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.517C>T	1.37:g.219384873C>T	ENSP00000355895:p.Gln173*					LYPLAL1_uc001hlr.3_Nonsense_Mutation_p.Q157*|LYPLAL1_uc001hls.3_Nonsense_Mutation_p.Q49*|LYPLAL1_uc001hlt.3_Nonsense_Mutation_p.Q49*|LYPLAL1_uc009xds.2_Nonsense_Mutation_p.Q122*	p.Q173*	NM_138794	NP_620149	Q5VWZ2	LYPL1_HUMAN		GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)	5	558	+			173					A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Nonsense_Mutation	SNP	ENST00000366928.5	37	c.517C>T	CCDS1522.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487181	0.84854	0.0	1.16E-4	ENSG00000143353	ENST00000366928;ENST00000366927	.	.	.	6.16	6.16	0.99307	.	0.122946	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	173;157	.	ENSP00000355894:Q157X	Q	+	1	0	LYPLAL1	217451496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.497000	0.73674	2.937000	0.99478	0.650000	0.86243	CAG		0.353	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090208.1	NM_138794		29	104	0	0	0	0	29	104				
MAP10	54627	broad.mit.edu	37	1	232941206	232941206	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:232941206C>G	ENST00000418460.1	+	1	564	c.437C>G	c.(436-438)tCg>tGg	p.S146W		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	4					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										ATGGCGGCCTCGCTGTCCGAG	0.677																																						uc001hvh.2		NA																	0				ovary(1)	1						c.(436-438)TCG>TGG		hypothetical protein LOC54627							9.0	12.0	11.0					1																	232941206		1966	4141	6107	SO:0001583	missense	54627							g.chr1:232941206C>G	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.437C>G	1.37:g.232941206C>G	ENSP00000403208:p.Ser146Trp						p.S146W	NM_019090	NP_061963	Q9P2G4	K1383_HUMAN			1	569	+		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)	4					A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.437C>G	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081324	0.55753	.	.	ENSG00000212916	ENST00000418460	.	.	.	4.94	2.95	0.34219	.	1.671990	0.04264	U	0.340849	T	0.35248	0.0925	N	0.14661	0.345	0.09310	N	1	D	0.58970	0.984	P	0.51945	0.685	T	0.32428	-0.9907	9	0.66056	D	0.02	2.2546	8.1544	0.31160	0.1795:0.6471:0.1734:0.0	.	4	Q9P2G4	K1383_HUMAN	W	146	.	ENSP00000403208:S146W	S	+	2	0	KIAA1383	231007829	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.856000	0.04290	0.526000	0.28541	0.313000	0.20887	TCG		0.677	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		7	14	0	0	0	0	7	14				
ARID4B	51742	broad.mit.edu	37	1	235345584	235345584	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:235345584C>A	ENST00000264183.3	-	20	3147	c.2650G>T	c.(2650-2652)Gaa>Taa	p.E884*	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000366603.2_Nonsense_Mutation_p.E884*|ARID4B_ENST00000349213.3_Nonsense_Mutation_p.E798*	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	884					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTCTTTTTTCCTCCAAACCA	0.343																																						uc001hwq.2		NA																	0				ovary(2)|lung(1)	3						c.(2650-2652)GAA>TAA		AT rich interactive domain 4B isoform 1							106.0	104.0	105.0					1																	235345584		2203	4300	6503	SO:0001587	stop_gained	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345584C>A	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2650G>T	1.37:g.235345584C>A	ENSP00000264183:p.Glu884*					ARID4B_uc001hwr.2_Nonsense_Mutation_p.E798*|ARID4B_uc001hws.3_Nonsense_Mutation_p.E798*|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Nonsense_Mutation_p.E565*	p.E884*	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	3148	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	884					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Nonsense_Mutation	SNP	ENST00000264183.3	37	c.2650G>T	CCDS31061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.529014|4.529014	0.85706|0.85706	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183|ENST00000444620	.|.	.|.	.|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.702999|.	0.15074|.	N|.	0.282016|.	.|T	.|0.79604	.|0.4474	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77792	.|-0.2455	.|3	0.52906|.	T|.	0.07|.	-13.661|-13.661	19.6767|19.6767	0.95936|0.95936	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|S	884;798;884;884|283	.|.	ENSP00000264183:E884X|.	E|R	-|-	1|3	0|2	ARID4B|ARID4B	233412207|233412207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.700000|0.700000	0.40528|0.40528	7.487000|7.487000	0.81328|0.81328	2.654000|2.654000	0.90174|0.90174	0.585000|0.585000	0.79938|0.79938	GAA|AGG		0.343	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		7	101	1	0	0.00307968	0.00316034	7	101				
MAP1LC3C	440738	broad.mit.edu	37	1	242162283	242162283	+	Missense_Mutation	SNP	C	C	T	rs141733716	byFrequency	TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:242162283C>T	ENST00000357246.3	-	1	92	c.28G>A	c.(28-30)Gtc>Atc	p.V10I		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	10					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AAGGGTCTGACGCTTGGGATT	0.458											OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hzk.2		NA																	0				ovary(1)	1						c.(28-30)GTC>ATC		microtubule-associated protein 1 light chain 3							82.0	86.0	84.0					1																	242162283		2203	4300	6503	SO:0001583	missense	440738				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	g.chr1:242162283C>T	AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.28G>A	1.37:g.242162283C>T	ENSP00000349785:p.Val10Ile		OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2432		p.V10I	NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	103	-			10					A0PJY8|A2RUP0	Missense_Mutation	SNP	ENST00000357246.3	37	c.28G>A	CCDS31074.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331614	0.24167	.	.	ENSG00000197769	ENST00000357246	T	0.43294	0.95	3.95	0.727	0.18254	.	0.566147	0.19314	N	0.117340	T	0.25901	0.0631	N	0.25890	0.77	0.21290	N	0.999736	B	0.09022	0.002	B	0.09377	0.004	T	0.16129	-1.0413	10	0.44086	T	0.13	.	7.4866	0.27437	0.0:0.166:0.5194:0.3147	.	10	Q9BXW4	MLP3C_HUMAN	I	10	ENSP00000349785:V10I	ENSP00000349785:V10I	V	-	1	0	MAP1LC3C	240228906	0.371000	0.25056	0.869000	0.34112	0.694000	0.40290	0.232000	0.17891	0.324000	0.23333	-0.185000	0.12909	GTC		0.458	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	NM_001004343		20	61	0	0	0	0	20	61				
OR2C3	81472	broad.mit.edu	37	1	247694956	247694956	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:247694956C>G	ENST00000366487.3	-	2	1219	c.858G>C	c.(856-858)ctG>ctC	p.L286L	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAAGTGGGTTCAGCGCAGGAG	0.547																																						uc009xgy.2		NA																	0				ovary(1)|skin(1)	2						c.(856-858)CTG>CTC		olfactory receptor, family 2, subfamily C,							100.0	87.0	91.0					1																	247694956		2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247694956C>G	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.858G>C	1.37:g.247694956C>G						C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.L286L	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1220	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	286			Helical; Name=7; (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.858G>C	CCDS1634.2																																																																																				0.547	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		7	93	0	0	0	0	7	93				
OR2W3	343171	broad.mit.edu	37	1	248059216	248059216	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:248059216G>C	ENST00000360358.3	+	1	328	c.328G>C	c.(328-330)Gtg>Ctg	p.V110L	OR2W3_ENST00000537741.1_Missense_Mutation_p.V110L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTGGGTGGTGTGGAGTGCCT	0.577																																						uc001idp.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(328-330)GTG>CTG		olfactory receptor, family 2, subfamily W,							131.0	103.0	113.0					1																	248059216		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059216G>C	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.328G>C	1.37:g.248059216G>C	ENSP00000353516:p.Val110Leu					OR2W3_uc010pzb.1_Missense_Mutation_p.V110L	p.V110L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	597	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		110			Helical; Name=3; (Potential).		Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.328G>C	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150658	0.37923	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.01092	5.35;5.35	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.392208	0.22139	N	0.064068	T	0.00967	0.0032	N	0.16266	0.395	0.09310	N	1	P	0.36753	0.568	B	0.34093	0.175	T	0.53913	-0.8371	10	0.87932	D	0	.	8.7235	0.34456	0.0787:0.0:0.768:0.1533	.	110	Q7Z3T1	OR2W3_HUMAN	L	110	ENSP00000445853:V110L;ENSP00000353516:V110L	ENSP00000353516:V110L	V	+	1	0	OR2W3	246125839	0.000000	0.05858	0.916000	0.36221	0.835000	0.47333	0.517000	0.22832	2.755000	0.94549	0.603000	0.83216	GTG		0.577	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		23	60	0	0	0	0	23	60				
SVIL	6840	broad.mit.edu	37	10	29821937	29821937	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr10:29821937C>A	ENST00000355867.4	-	8	2111	c.1359G>T	c.(1357-1359)aaG>aaT	p.K453N	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_Missense_Mutation_p.K453N	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	453					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GTAGGGTTTTCTTGCTTTGCT	0.483																																						uc001iut.1		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(1357-1359)AAG>AAT		supervillin isoform 2							84.0	78.0	80.0					10																	29821937		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29821937C>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1359G>T	10.37:g.29821937C>A	ENSP00000348128:p.Lys453Asn					SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.K453N	p.K453N	NM_021738	NP_068506	O95425	SVIL_HUMAN			8	2112	-		Breast(68;0.103)	453					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.1359G>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380342	0.24944	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.11712	2.75;2.75	5.77	0.628	0.17681	.	0.973660	0.08465	N	0.941891	T	0.07324	0.0185	L	0.36672	1.1	0.09310	N	1	B	0.21520	0.057	B	0.18871	0.023	T	0.43798	-0.9369	9	.	.	.	-0.3281	1.276	0.02030	0.1468:0.3171:0.3046:0.2315	.	453	O95425	SVIL_HUMAN	N	453	ENSP00000364547:K453N;ENSP00000348128:K453N	.	K	-	3	2	SVIL	29861943	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.188000	0.17018	0.062000	0.16340	-0.175000	0.13238	AAG		0.483	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			25	38	1	0	0.00106085	0.00109673	25	38				
DNA2	1763	broad.mit.edu	37	10	70231756	70231756	+	5'Flank	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr10:70231756G>A	ENST00000358410.3	-	0	0				DNA2_ENST00000399179.2_5'UTR|DNA2_ENST00000399180.2_Missense_Mutation_p.H42Y	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2						ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TGTCCCAAATGACCTGCGCCA	0.657																																						uc001jof.2		NA																	0					0						c.(124-126)CAT>TAT		DNA replication helicase 2 homolog							22.0	25.0	24.0					10																	70231756		1877	4099	5976	SO:0001631	upstream_gene_variant	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70231756G>A	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352		10.37:g.70231756G>A	Exception_encountered					DNA2_uc001jog.1_5'Flank|DNA2_uc001joh.1_Intron	p.H42Y	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN			1	124	-			Error:Variant_position_missing_in_P51530_after_alignment					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37	c.124C>T		.	.	.	.	.	.	.	.	.	.	G	13.76	2.333042	0.41297	.	.	ENSG00000138346	ENST00000399180	D	0.91295	-2.82	3.4	3.4	0.38934	.	.	.	.	.	D	0.90937	0.7151	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	D	0.89086	0.3479	5	.	.	.	.	10.5823	0.45263	0.0:0.0:1.0:0.0	.	.	.	.	Y	42	ENSP00000382133:H42Y	.	H	-	1	0	DNA2	69901762	0.221000	0.23642	0.318000	0.25279	0.318000	0.28184	1.090000	0.30902	2.211000	0.71520	0.305000	0.20034	CAT		0.657	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			17	20	0	0	0	0	17	20				
ADAMTS14	140766	broad.mit.edu	37	10	72492036	72492036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr10:72492036C>T	ENST00000373207.1	+	7	1129	c.1129C>T	c.(1129-1131)Cac>Tac	p.H377Y	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.H380Y	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	377	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGGCATGTGTCACCCCCTGAG	0.597																																						uc001jrh.2		NA																	0		p.G377D(1)		ovary(5)|upper_aerodigestive_tract(1)	6						c.(1129-1131)CAC>TAC		ADAM metallopeptidase with thrombospondin type 1							112.0	84.0	93.0					10																	72492036		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72492036C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1129C>T	10.37:g.72492036C>T	ENSP00000362303:p.His377Tyr					ADAMTS14_uc001jrg.2_Missense_Mutation_p.H380Y|ADAMTS14_uc001jri.1_5'Flank	p.H377Y	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			7	1129	+			377			Peptidase M12B.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.1129C>T	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102657	0.94245	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.63096	-0.02;-0.02	4.68	4.68	0.58851	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.76688	0.4022	M	0.71581	2.175	0.52501	D	0.999954	D;D	0.63880	0.984;0.993	P;P	0.62560	0.904;0.904	T	0.79505	-0.1776	10	0.66056	D	0.02	.	17.7716	0.88494	0.0:1.0:0.0:0.0	.	377;380	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	Y	380;377	ENSP00000362304:H380Y;ENSP00000362303:H377Y	ENSP00000362303:H377Y	H	+	1	0	ADAMTS14	72162042	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.651000	0.83577	2.606000	0.88127	0.655000	0.94253	CAC		0.597	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		3	23	0	0	0	0	3	23				
NRAP	4892	broad.mit.edu	37	10	115368262	115368262	+	Missense_Mutation	SNP	G	G	A	rs377301664		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr10:115368262G>A	ENST00000359988.3	-	32	3857	c.3613C>T	c.(3613-3615)Cgg>Tgg	p.R1205W	NRAP_ENST00000369358.4_Missense_Mutation_p.R1213W|NRAP_ENST00000360478.3_Missense_Mutation_p.R1170W|NRAP_ENST00000369360.3_Missense_Mutation_p.R1178W	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGATGCTGCCGATATTTACTC	0.438																																						uc001laj.2		NA																	0				ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(3613-3615)CGG>TGG		nebulin-related anchoring protein isoform S		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	202.0	194.0	197.0		3508,3613	6.0	1.0	10		197	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NRAP	NM_006175.3,NM_198060.2	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1170/1696,1205/1731	115368262	1,13005	2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115368262G>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3613C>T	10.37:g.115368262G>A	ENSP00000353078:p.Arg1205Trp					NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.R1170W|NRAP_uc001lal.3_Missense_Mutation_p.R1205W	p.R1205W	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	32	3777	-		Colorectal(252;0.0233)|Breast(234;0.188)	1205			Nebulin 31.			Missense_Mutation	SNP	ENST00000359988.3	37	c.3613C>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899823	0.91962	0.0	1.16E-4	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.24538	2.23;2.23;1.97;1.85	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.89968	3.075	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.67409	-0.5678	10	0.87932	D	0	.	18.7471	0.91797	0.0:0.0:1.0:0.0	.	1205;1170;1205	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	W	1213;1178;1205;1170	ENSP00000358365:R1213W;ENSP00000358367:R1178W;ENSP00000353078:R1205W;ENSP00000353666:R1170W	ENSP00000353078:R1205W	R	-	1	2	NRAP	115358252	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.731000	0.84895	2.854000	0.98071	0.655000	0.94253	CGG		0.438	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		60	116	0	0	0	0	60	116				
DPYSL4	10570	broad.mit.edu	37	10	134012379	134012379	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr10:134012379G>A	ENST00000338492.4	+	8	879	c.715G>A	c.(715-717)Gct>Act	p.A239T	DPYSL4_ENST00000368629.1_Missense_Mutation_p.A139T|DPYSL4_ENST00000368627.1_Missense_Mutation_p.A139T	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	239					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGTGTACCGAGCTGTCACCAT	0.657																																						uc009ybb.2		NA																	0				central_nervous_system(2)	2						c.(715-717)GCT>ACT		dihydropyrimidinase-like 4							78.0	66.0	70.0					10																	134012379		2203	4299	6502	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134012379G>A	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.715G>A	10.37:g.134012379G>A	ENSP00000339850:p.Ala239Thr						p.A239T	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	8	869	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	239					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.715G>A	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642280	0.87859	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.89415	-2.51;-2.51;-2.51	3.66	3.66	0.41972	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.95089	0.8409	H	0.95574	3.69	0.58432	D	0.999998	D	0.63046	0.992	P	0.56788	0.806	D	0.96895	0.9656	10	0.87932	D	0	-13.162	16.0148	0.80430	0.0:0.0:1.0:0.0	.	239	O14531	DPYL4_HUMAN	T	239;139;139	ENSP00000339850:A239T;ENSP00000357618:A139T;ENSP00000357616:A139T	ENSP00000339850:A239T	A	+	1	0	DPYSL4	133862369	1.000000	0.71417	0.676000	0.29932	0.739000	0.42172	5.038000	0.64177	2.065000	0.61736	0.555000	0.69702	GCT		0.657	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			4	41	0	0	0	0	4	41				
SCUBE2	57758	broad.mit.edu	37	11	9087482	9087482	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:9087482G>A	ENST00000309263.3	-	7	878	c.806C>T	c.(805-807)tCa>tTa	p.S269L	SCUBE2_ENST00000457346.2_Missense_Mutation_p.S269L|SCUBE2_ENST00000450649.2_Missense_Mutation_p.S269L|RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.S269L			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	269						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ATCCACCACTGATGTGGTGTT	0.522																																						uc001mhh.1		NA																	0				ovary(1)|skin(1)	2						c.(805-807)TCA>TTA		CEGP1 protein precursor							207.0	149.0	169.0					11																	9087482		2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9087482G>A	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.806C>T	11.37:g.9087482G>A	ENSP00000310658:p.Ser269Leu					SCUBE2_uc001mhi.1_Missense_Mutation_p.S269L|SCUBE2_uc001mhj.1_Missense_Mutation_p.S269L	p.S269L	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	7	886	-			269					Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.806C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.02|13.02	2.113233|2.113233	0.37339|0.37339	.|.	.|.	ENSG00000175356|ENSG00000175356	ENST00000531429|ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	.|T;T;D;T	.|0.84370	.|-1.27;-1.35;-1.84;-1.44	5.64|5.64	2.77|2.77	0.32553|0.32553	.|.	.|0.350694	.|0.30510	.|N	.|0.009465	.|T	.|0.79787	.|0.4506	M|M	0.66560|0.66560	2.04|2.04	0.26202|0.26202	N|N	0.97944|0.97944	.|B;P;B	.|0.35700	.|0.363;0.516;0.382	.|B;B;B	.|0.34652	.|0.187;0.187;0.091	.|T	.|0.65360	.|-0.6187	.|10	.|0.10902	.|T	.|0.67	.|.	10.2456|10.2456	0.43339|0.43339	0.2119:0.0:0.7881:0.0|0.2119:0.0:0.7881:0.0	.|.	.|269;269;269	.|Q9NQ36-3;Q9NQ36-2;Q9NQ36	.|.;.;SCUB2_HUMAN	X|L	34|269	.|ENSP00000390481:S269L;ENSP00000310658:S269L;ENSP00000415187:S269L;ENSP00000429969:S269L	.|ENSP00000310658:S269L	Q|S	-|-	1|2	0|0	SCUBE2|SCUBE2	9044058|9044058	0.588000|0.588000	0.26799|0.26799	0.179000|0.179000	0.23059|0.23059	0.487000|0.487000	0.33371|0.33371	1.659000|1.659000	0.37387|0.37387	0.747000|0.747000	0.32809|0.32809	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.522	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		14	43	0	0	0	0	14	43				
EIF4G2	1982	broad.mit.edu	37	11	10828424	10828424	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:10828424G>C	ENST00000526148.1	-	3	560	c.50C>G	c.(49-51)tCg>tGg	p.S17W	RP11-685M7.3_ENST00000499765.1_RNA|EIF4G2_ENST00000525995.1_5'UTR|EIF4G2_ENST00000396525.2_Missense_Mutation_p.S17W|EIF4G2_ENST00000339995.5_Missense_Mutation_p.S17W|EIF4G2_ENST00000525681.1_Missense_Mutation_p.S17W	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)		TCCTCCGCCCGAAGAAGCACT	0.388																																						uc001mjc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(49-51)TCG>TGG		eukaryotic translation initiation factor 4							113.0	108.0	110.0					11																	10828424		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.chr11:10828424G>C	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.50C>G	11.37:g.10828424G>C	ENSP00000433664:p.Ser17Trp					EIF4G2_uc001mjb.2_5'UTR|EIF4G2_uc009ygf.2_5'UTR|EIF4G2_uc001mjd.2_Missense_Mutation_p.S17W|EIF4G2_uc001mjf.1_5'UTR	p.S17W	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)	3	467	-			17						Missense_Mutation	SNP	ENST00000526148.1	37	c.50C>G	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516100	0.85495	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416;ENST00000532082;ENST00000524932;ENST00000532570;ENST00000526591;ENST00000530211;ENST00000527526	T;T;T;T;T;T;T;T	0.49432	2.1;2.1;2.1;2.1;1.78;1.81;1.81;0.78	5.43	5.43	0.79202	.	0.128765	0.56097	D	0.000039	T	0.56630	0.1998	N	0.19112	0.55	0.46437	D	0.999040	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.62324	-0.6878	9	0.72032	D	0.01	-2.3085	19.2449	0.93898	0.0:0.0:1.0:0.0	.	17;90	P78344;B4DZF2	IF4G2_HUMAN;.	W	17;17;17;17;90;17;17;17;17;17;17;17	ENSP00000433664:S17W;ENSP00000433371:S17W;ENSP00000340281:S17W;ENSP00000379778:S17W;ENSP00000431583:S17W;ENSP00000433121:S17W;ENSP00000435523:S17W;ENSP00000431511:S17W	ENSP00000340281:S17W	S	-	2	0	EIF4G2	10785000	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.803000	0.75180	2.560000	0.86352	0.561000	0.74099	TCG		0.388	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		27	94	0	0	0	0	27	94				
SPON1	10418	broad.mit.edu	37	11	14280917	14280917	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:14280917G>A	ENST00000310358.7	+	0	2119							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AGAGGTATGTGAAGCAGTTCC	0.652																																						uc001mle.2		NA																	0					0						c.(1582-1584)GTG>GTA		spondin 1, extracellular matrix protein							36.0	40.0	39.0					11																	14280917		2147	4242	6389			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14280917G>A	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14280917G>A							p.V528V	NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	13	2122	+			528			TSP type-1 2.		A8K6W5|O94862|Q8NCD7|Q8WUR5	Silent	SNP	ENST00000310358.7	37	c.1584G>A																																																																																					0.652	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		3	13	0	0	0	0	3	13				
COPB1	1315	broad.mit.edu	37	11	14486569	14486569	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:14486569C>T	ENST00000249923.3	-	18	2598	c.2298G>A	c.(2296-2298)ctG>ctA	p.L766L	COPB1_ENST00000439561.2_Silent_p.L766L	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	766					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CCACAAGTTTCAGATCCCCTG	0.393																																						uc001mli.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2296-2298)CTG>CTA		coatomer protein complex, subunit beta 1							71.0	70.0	70.0					11																	14486569		2200	4294	6494	SO:0001819	synonymous_variant	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14486569C>T	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2298G>A	11.37:g.14486569C>T						COPB1_uc001mlg.2_Silent_p.L766L|COPB1_uc001mlh.2_Silent_p.L766L	p.L766L	NM_016451	NP_057535	P53618	COPB_HUMAN			18	2605	-			766					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Silent	SNP	ENST00000249923.3	37	c.2298G>A	CCDS7815.1																																																																																				0.393	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		10	18	0	0	0	0	10	18				
COPB1	1315	broad.mit.edu	37	11	14507935	14507935	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:14507935G>C	ENST00000249923.3	-	7	1115	c.815C>G	c.(814-816)tCt>tGt	p.S272C	COPB1_ENST00000439561.2_Missense_Mutation_p.S272C	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	272					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TGGTGCACTAGAGAGTGTCAC	0.398																																						uc001mli.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(814-816)TCT>TGT		coatomer protein complex, subunit beta 1							167.0	159.0	162.0					11																	14507935		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14507935G>C	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.815C>G	11.37:g.14507935G>C	ENSP00000249923:p.Ser272Cys					COPB1_uc001mlg.2_Missense_Mutation_p.S272C|COPB1_uc001mlh.2_Missense_Mutation_p.S272C	p.S272C	NM_016451	NP_057535	P53618	COPB_HUMAN			7	1122	-			272			HEAT 3.		D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.815C>G	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502414	0.85176	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.14391	2.51;2.51;2.51	5.36	4.39	0.52855	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.104247	0.64402	D	0.000002	T	0.48978	0.1530	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64398	-0.6417	10	0.87932	D	0	.	15.5171	0.75833	0.0:0.1383:0.8617:0.0	.	272	P53618	COPB_HUMAN	C	272	ENSP00000249923:S272C;ENSP00000397873:S272C;ENSP00000436383:S272C	ENSP00000249923:S272C	S	-	2	0	COPB1	14464511	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.934000	0.87649	2.496000	0.84212	0.563000	0.77884	TCT		0.398	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		12	93	0	0	0	0	12	93				
SAAL1	113174	broad.mit.edu	37	11	18105261	18105261	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:18105261C>T	ENST00000524803.1	-	10	1109	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N	SAAL1_ENST00000529318.1_Missense_Mutation_p.D356N|SAAL1_ENST00000300013.4_Missense_Mutation_p.D353N			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	354										breast(2)|large_intestine(5)|lung(8)	15						ATGAGGCTGTCAATTAGAGGA	0.363																																						uc001mnq.2		NA																	0					0						c.(1060-1062)GAC>AAC		serum amyloid A-like 1							93.0	88.0	89.0					11																	18105261		2200	4293	6493	SO:0001583	missense	113174				acute-phase response	extracellular region	binding	g.chr11:18105261C>T	AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.1060G>A	11.37:g.18105261C>T	ENSP00000432487:p.Asp354Asn					SAAL1_uc001mnr.2_Missense_Mutation_p.D353N|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Missense_Mutation_p.D356N	p.D354N	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN			10	1110	-			354					A6NH05	Missense_Mutation	SNP	ENST00000524803.1	37	c.1060G>A	CCDS31439.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849979	0.51270	.	.	ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000529318	T;T;T	0.34859	1.34;1.5;1.5	5.99	5.99	0.97316	Armadillo-like helical (1);	0.302093	0.34067	N	0.004290	T	0.29028	0.0721	L	0.36672	1.1	0.34884	D	0.74486	P;P;P	0.35272	0.493;0.493;0.493	B;B;B	0.29942	0.109;0.109;0.109	T	0.27226	-1.0080	10	0.15499	T	0.54	-6.2994	18.6582	0.91462	0.0:1.0:0.0:0.0	.	356;354;354	E9PRZ1;G1UCX3;Q96ER3	.;.;SAAL1_HUMAN	N	354;353;356	ENSP00000432487:D354N;ENSP00000300013:D353N;ENSP00000432216:D356N	ENSP00000300013:D353N	D	-	1	0	SAAL1	18061837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.038000	0.64177	2.840000	0.97914	0.655000	0.94253	GAC		0.363	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421		4	30	0	0	0	0	4	30				
CCDC34	91057	broad.mit.edu	37	11	27384432	27384432	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:27384432C>G	ENST00000328697.6	-	1	983	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	CCDC34_ENST00000317945.6_Missense_Mutation_p.E104Q	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	104								p.E104K(1)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						ACTTTGGCCTCTGAATCATGG	0.572																																						uc001mrh.1		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(310-312)GAG>CAG		coiled-coil domain containing 34 isoform 1							164.0	145.0	152.0					11																	27384432		2202	4299	6501	SO:0001583	missense	91057							g.chr11:27384432C>G	AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.310G>C	11.37:g.27384432C>G	ENSP00000330240:p.Glu104Gln					CCDC34_uc001mri.1_Missense_Mutation_p.E104Q	p.E104Q	NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN			1	364	-			104					B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	ENST00000328697.6	37	c.310G>C	CCDS31448.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.197214	0.38806	.	.	ENSG00000109881	ENST00000328697;ENST00000317945	T;T	0.26067	1.76;1.76	4.78	3.86	0.44501	.	0.000000	0.42964	D	0.000630	T	0.37433	0.1003	L	0.50333	1.59	0.09310	N	1	D;D	0.61080	0.989;0.958	P;P	0.58928	0.848;0.802	T	0.10132	-1.0643	10	0.48119	T	0.1	-0.3372	11.085	0.48082	0.0:0.8126:0.1874:0.0	.	104;104	Q96HJ3-2;Q96HJ3	.;CCD34_HUMAN	Q	104	ENSP00000330240:E104Q;ENSP00000321563:E104Q	ENSP00000321563:E104Q	E	-	1	0	CCDC34	27341008	0.027000	0.19231	0.015000	0.15790	0.005000	0.04900	1.106000	0.31098	1.333000	0.45449	0.655000	0.94253	GAG		0.572	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2	NM_030771		27	81	0	0	0	0	27	81				
KIAA1549L	25758	broad.mit.edu	37	11	33566371	33566371	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:33566371G>A	ENST00000321505.4	+	2	2121	c.1941G>A	c.(1939-1941)ctG>ctA	p.L647L	KIAA1549L_ENST00000389726.3_Silent_p.L653L|KIAA1549L_ENST00000265654.5_Silent_p.L653L			Q6ZVL6	K154L_HUMAN	KIAA1549-like	647						integral component of membrane (GO:0016021)											CATTGTTTCTGAGGAAATCAA	0.512																																						uc001mup.3		NA																	0				ovary(2)	2						c.(1957-1959)CTG>CTA		hypothetical protein LOC25758							41.0	43.0	42.0					11																	33566371		2045	4197	6242	SO:0001819	synonymous_variant	25758					integral to membrane		g.chr11:33566371G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1941G>A	11.37:g.33566371G>A						C11orf41_uc001mun.1_Silent_p.L653L	p.L653L	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			2	2083	+			647					B0QYU0	Silent	SNP	ENST00000321505.4	37	c.1959G>A	CCDS44565.2																																																																																				0.512	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		8	17	0	0	0	0	8	17				
CAPRIN1	4076	broad.mit.edu	37	11	34107680	34107680	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:34107680C>G	ENST00000341394.4	+	10	1225	c.1036C>G	c.(1036-1038)Cca>Gca	p.P346A	CAPRIN1_ENST00000389645.3_Missense_Mutation_p.P346A|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.P265A|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.P346A|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.P346A	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	346					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CTCTTTGACTCCAGTGGCTCA	0.458																																						uc001mvh.1		NA																	0				ovary(1)	1						c.(1036-1038)CCA>GCA		membrane component chromosome 11 surface marker							66.0	61.0	63.0					11																	34107680		2202	4298	6500	SO:0001583	missense	4076				negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding	g.chr11:34107680C>G	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.1036C>G	11.37:g.34107680C>G	ENSP00000340329:p.Pro346Ala					CAPRIN1_uc001mvg.2_Missense_Mutation_p.P346A|CAPRIN1_uc001mvi.2_Missense_Mutation_p.P346A|CAPRIN1_uc001mvj.1_Missense_Mutation_p.P265A	p.P346A	NM_005898	NP_005889	Q14444	CAPR1_HUMAN			10	1225	+		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)	346					A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	ENST00000341394.4	37	c.1036C>G	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071164	0.36566	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.15256	2.44;2.46;2.44;2.46;2.46	6.08	5.12	0.69794	.	0.643908	0.16531	N	0.210352	T	0.07773	0.0195	N	0.03115	-0.41	0.44234	D	0.997074	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.27773	-1.0064	10	0.34782	T	0.22	-5.1343	9.1303	0.36841	0.2245:0.4843:0.2912:0.0	.	346;346	Q14444;Q14444-2	CAPR1_HUMAN;.	A	346;346;346;346;265	ENSP00000340329:P346A;ENSP00000374296:P346A;ENSP00000434150:P346A;ENSP00000434204:P346A;ENSP00000431581:P265A	ENSP00000340329:P346A	P	+	1	0	CAPRIN1	34064256	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.065000	0.30592	2.894000	0.99253	0.591000	0.81541	CCA		0.458	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		5	48	0	0	0	0	5	48				
ALKBH3	221120	broad.mit.edu	37	11	43911373	43911373	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:43911373G>C	ENST00000302708.4	+	6	776	c.365G>C	c.(364-366)aGa>aCa	p.R122T	ALKBH3_ENST00000378840.4_Missense_Mutation_p.R121T|ALKBH3_ENST00000532410.1_3'UTR	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	122					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	ACTGGCATCAGAGAGGGTAAG	0.478								Direct reversal of damage																														uc001mxs.2		NA																	0					0						c.(364-366)AGA>ACA	Direct_reversal_of_damage	AlkB homolog 3	Vitamin C(DB00126)						104.0	96.0	99.0					11																	43911373		2203	4300	6503	SO:0001583	missense	221120				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:43911373G>C	AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"""Alkylation repair homologs"""	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.365G>C	11.37:g.43911373G>C	ENSP00000302232:p.Arg122Thr					ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_5'UTR	p.R122T	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN			6	808	+			122	R->A: Decreases activity towards ssDNA by 25%. Loss of activity towards dsDNA.				A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Missense_Mutation	SNP	ENST00000302708.4	37	c.365G>C	CCDS7906.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920410	0.33908	.	.	ENSG00000166199	ENST00000302708;ENST00000378840;ENST00000529366;ENST00000532129	T;T;T	0.13778	2.56;2.56;2.56	5.85	4.94	0.65067	.	0.089763	0.64402	D	0.000001	T	0.11965	0.0291	L	0.43598	1.365	0.41243	D	0.986657	B	0.15141	0.012	B	0.18263	0.021	T	0.09422	-1.0675	10	0.16896	T	0.51	-13.0428	11.3678	0.49681	0.0834:0.0:0.9166:0.0	.	122	Q96Q83	ALKB3_HUMAN	T	122;121;121;21	ENSP00000302232:R122T;ENSP00000368117:R121T;ENSP00000435848:R121T	ENSP00000302232:R122T	R	+	2	0	ALKBH3	43867949	1.000000	0.71417	0.960000	0.40013	0.466000	0.32739	2.704000	0.47118	2.768000	0.95171	0.655000	0.94253	AGA		0.478	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389693.1	NM_139178		11	31	0	0	0	0	11	31				
PRDM11	56981	broad.mit.edu	37	11	45241256	45241256	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:45241256G>A	ENST00000530656.1	+	6	792	c.792G>A	c.(790-792)atG>atA	p.M264I	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000263765.4_Missense_Mutation_p.M264I|PRDM11_ENST00000424263.2_Missense_Mutation_p.M230I|PRDM11_ENST00000528980.1_3'UTR			Q9NQV5	PRD11_HUMAN	PR domain containing 11	264							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGGACTACATGAAGCGCCTGC	0.637																																					NSCLC(118;1511 1736 6472 36603 43224)	uc001myo.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(790-792)ATG>ATA		PR domain containing 11							69.0	51.0	57.0					11																	45241256		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45241256G>A	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.792G>A	11.37:g.45241256G>A	ENSP00000435976:p.Met264Ile						p.M264I	NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN			7	1041	+			264			SET.		Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.792G>A		.	.	.	.	.	.	.	.	.	.	G	16.78	3.217599	0.58560	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.46819	0.86;0.86;0.86	5.85	5.85	0.93711	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.48187	0.1486	L	0.50333	1.59	0.38527	D	0.948884	B	0.24132	0.098	B	0.24541	0.054	T	0.44345	-0.9334	10	0.49607	T	0.09	-40.5591	20.1612	0.98133	0.0:0.0:1.0:0.0	.	264	Q9NQV5	PRD11_HUMAN	I	264;264;230	ENSP00000263765:M264I;ENSP00000435976:M264I;ENSP00000394314:M230I	ENSP00000263765:M264I	M	+	3	0	PRDM11	45197832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.851000	0.69481	2.766000	0.95052	0.643000	0.83706	ATG		0.637	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		13	31	0	0	0	0	13	31				
TNKS1BP1	85456	broad.mit.edu	37	11	57069957	57069957	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:57069957G>A	ENST00000532437.1	-	6	4970	c.4659C>T	c.(4657-4659)ccC>ccT	p.P1553P	TNKS1BP1_ENST00000358252.3_Silent_p.P1553P			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1553	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGTCCTGACTGGGGGATCTGG	0.637																																						uc001njr.2		NA																	0				skin(1)	1						c.(4657-4659)CCC>CCT		tankyrase 1-binding protein 1							32.0	36.0	35.0					11																	57069957		2201	4296	6497	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57069957G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4659C>T	11.37:g.57069957G>A						TNKS1BP1_uc001njp.2_Silent_p.P125P|TNKS1BP1_uc001njq.2_Silent_p.P125P|TNKS1BP1_uc001njs.2_Silent_p.P1553P	p.P1553P	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			6	4971	-		all_epithelial(135;0.21)	1553			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.4659C>T	CCDS7951.1																																																																																				0.637	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		5	20	0	0	0	0	5	20				
FAM111A	63901	broad.mit.edu	37	11	58919875	58919875	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:58919875A>G	ENST00000528737.1	+	5	3552	c.734A>G	c.(733-735)aAc>aGc	p.N245S	FAM111A_ENST00000531147.1_Missense_Mutation_p.N245S|FAM111A_ENST00000361723.3_Missense_Mutation_p.N245S|FAM111A_ENST00000420244.1_Missense_Mutation_p.N245S|FAM111A_ENST00000533703.1_Missense_Mutation_p.N245S			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	245					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CTCATTGAAAACAATGACACC	0.418																																						uc010rkp.1		NA																	0				ovary(3)	3						c.(733-735)AAC>AGC		hypothetical protein LOC63901							109.0	108.0	108.0					11																	58919875		2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58919875A>G	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.734A>G	11.37:g.58919875A>G	ENSP00000434435:p.Asn245Ser					FAM111A_uc010rkq.1_Missense_Mutation_p.N245S|FAM111A_uc010rkr.1_Missense_Mutation_p.N245S|FAM111A_uc001nno.2_Missense_Mutation_p.N245S|FAM111A_uc001nnp.2_Missense_Mutation_p.N245S|FAM111A_uc001nnq.2_Missense_Mutation_p.N245S	p.N245S	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN			5	961	+		all_epithelial(135;0.139)	245					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.734A>G	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813599	0.50527	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.8	5.8	0.92144	.	0.424608	0.25344	N	0.031352	T	0.45236	0.1332	L	0.56769	1.78	0.09310	N	1	P	0.45126	0.851	B	0.39339	0.297	T	0.50206	-0.8855	10	0.42905	T	0.14	-12.292	13.9599	0.64172	1.0:0.0:0.0:0.0	.	245	Q96PZ2	F111A_HUMAN	S	245	ENSP00000434435:N245S;ENSP00000406683:N245S;ENSP00000355264:N245S;ENSP00000433154:N245S;ENSP00000431631:N245S	ENSP00000355264:N245S	N	+	2	0	FAM111A	58676451	0.000000	0.05858	0.058000	0.19502	0.229000	0.25112	0.892000	0.28322	2.340000	0.79590	0.528000	0.53228	AAC		0.418	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		15	73	0	0	0	0	15	73				
DTX4	23220	broad.mit.edu	37	11	58972245	58972245	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:58972245G>A	ENST00000227451.3	+	9	1827	c.1723G>A	c.(1723-1725)Gag>Aag	p.E575K	DTX4_ENST00000532982.1_Missense_Mutation_p.E469K	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	575					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CATCTGGAATGAGGTCCACCA	0.562																																						uc001nns.2		NA																	0				lung(2)|central_nervous_system(1)	3						c.(1723-1725)GAG>AAG		deltex 4 homolog							81.0	81.0	81.0					11																	58972245		2125	4257	6382	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58972245G>A	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1723G>A	11.37:g.58972245G>A	ENSP00000227451:p.Glu575Lys					DTX4_uc001nnr.2_Missense_Mutation_p.E469K	p.E575K	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN			9	1980	+		all_epithelial(135;0.125)	575					Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.1723G>A	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398428	0.96030	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.49432	0.78;0.78	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	L	0.58302	1.8	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.66333	-0.5950	10	0.54805	T	0.06	.	18.0339	0.89293	0.0:0.0:1.0:0.0	.	575	Q9Y2E6	DTX4_HUMAN	K	469;575	ENSP00000434055:E469K;ENSP00000227451:E575K	ENSP00000227451:E575K	E	+	1	0	DTX4	58728821	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.565000	0.86533	0.591000	0.81541	GAG		0.562	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		4	18	0	0	0	0	4	18				
OR4D9	390199	broad.mit.edu	37	11	59283051	59283051	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:59283051G>C	ENST00000329328.3	+	1	666	c.666G>C	c.(664-666)ttG>ttC	p.L222F		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CGGTCATCTTGATGATGCTGA	0.498																																						uc010rkv.1		NA																	0					0						c.(664-666)TTG>TTC		olfactory receptor, family 4, subfamily D,							225.0	197.0	206.0					11																	59283051		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59283051G>C	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.666G>C	11.37:g.59283051G>C	ENSP00000328563:p.Leu222Phe						p.L222F	NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN			1	666	+			222			Cytoplasmic (Potential).		Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.666G>C	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	G	8.508	0.865829	0.17250	.	.	ENSG00000172742	ENST00000329328	T	0.00123	8.7	4.45	2.45	0.29901	GPCR, rhodopsin-like superfamily (1);	0.258954	0.20211	U	0.096890	T	0.00328	0.0010	L	0.55990	1.75	0.09310	N	1	D	0.69078	0.997	D	0.70016	0.967	T	0.49698	-0.8912	10	0.66056	D	0.02	-1.9326	8.7157	0.34410	0.0:0.3119:0.5274:0.1607	.	222	Q8NGE8	OR4D9_HUMAN	F	222	ENSP00000328563:L222F	ENSP00000328563:L222F	L	+	3	2	OR4D9	59039627	0.001000	0.12720	0.029000	0.17559	0.006000	0.05464	-0.203000	0.09438	0.361000	0.24292	0.563000	0.77884	TTG		0.498	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		27	156	0	0	0	0	27	156				
MYRF	745	broad.mit.edu	37	11	61548770	61548770	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:61548770C>T	ENST00000278836.5	+	21	2829	c.2733C>T	c.(2731-2733)agC>agT	p.S911S	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_Silent_p.S302S|MYRF_ENST00000265460.5_Silent_p.S876S	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	911					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										atgttctcagcccaagtccca	0.607																																						uc001nsc.1		NA																	0				breast(1)	1						c.(2731-2733)AGC>AGT		myelin gene regulatory factor isoform 2							118.0	96.0	104.0					11																	61548770		2202	4299	6501	SO:0001819	synonymous_variant	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61548770C>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.2733C>T	11.37:g.61548770C>T						C11orf9_uc001nse.1_Silent_p.S876S|C11orf9_uc010rll.1_Silent_p.S302S	p.S911S	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			21	2829	+			911					O43582|Q9P1Q6	Silent	SNP	ENST00000278836.5	37	c.2733C>T	CCDS44622.1																																																																																				0.607	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		18	47	0	0	0	0	18	47				
LGALS12	85329	broad.mit.edu	37	11	63283183	63283183	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:63283183G>A	ENST00000394618.3	+	8	1153	c.862G>A	c.(862-864)Gag>Aag	p.E288K	LGALS12_ENST00000415491.2_Missense_Mutation_p.E227K|LGALS12_ENST00000425950.2_Missense_Mutation_p.E218K|LGALS12_ENST00000340246.5_Missense_Mutation_p.E289K|LGALS12_ENST00000255684.5_Missense_Mutation_p.E279K	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	288	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GAGATTCTTTGAGGTAGGTCA	0.557																																						uc001nxa.2		NA																	0				ovary(2)	2						c.(862-864)GAG>AAG		lectin, galactoside-binding, soluble, 12 isoform							44.0	44.0	44.0					11																	63283183		2201	4298	6499	SO:0001583	missense	85329				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding	g.chr11:63283183G>A	AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.862G>A	11.37:g.63283183G>A	ENSP00000378116:p.Glu288Lys					LGALS12_uc001nxb.2_Missense_Mutation_p.E279K|LGALS12_uc001nxc.2_Missense_Mutation_p.E289K|LGALS12_uc001nxd.2_Missense_Mutation_p.E227K|LGALS12_uc001nxe.2_Missense_Mutation_p.E218K|LGALS12_uc009yot.2_Missense_Mutation_p.E248K	p.E288K	NM_033101	NP_149092	Q96DT0	LEG12_HUMAN			8	1203	+			288			Galectin 2.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000394618.3	37	c.862G>A	CCDS8045.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902116	0.92035	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	T;T;T;T;T	0.05649	3.41;3.41;3.41;3.41;3.41	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (3);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000009	T	0.23210	0.0561	M	0.68952	2.095	0.48087	D	0.999584	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.997;0.973;0.999	T	0.00043	-1.2226	10	0.40728	T	0.16	-29.1653	15.5052	0.75731	0.0:0.0:1.0:0.0	.	248;289;279;288	Q9NZ03;G5E970;Q96DT0-3;Q96DT0	.;.;.;LEG12_HUMAN	K	279;288;289;227;218	ENSP00000255684:E279K;ENSP00000378116:E288K;ENSP00000339374:E289K;ENSP00000394659:E227K;ENSP00000399093:E218K	ENSP00000255684:E279K	E	+	1	0	LGALS12	63039759	1.000000	0.71417	0.980000	0.43619	0.899000	0.52679	5.322000	0.65852	2.739000	0.93911	0.561000	0.74099	GAG		0.557	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101		11	37	0	0	0	0	11	37				
C11orf84	144097	broad.mit.edu	37	11	63581231	63581231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:63581231G>A	ENST00000294244.4	+	1	372	c.73G>A	c.(73-75)Gag>Aag	p.E25K		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	25										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						AGGGGAGGACGAGGAGGAGGC	0.677																																						uc001nxt.2		NA																	0					0						c.(73-75)GAG>AAG		hypothetical protein LOC144097							40.0	38.0	39.0					11																	63581231		2201	4298	6499	SO:0001583	missense	144097							g.chr11:63581231G>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.73G>A	11.37:g.63581231G>A	ENSP00000294244:p.Glu25Lys						p.E25K	NM_138471	NP_612480	Q9BUA3	CK084_HUMAN			1	309	+			25					Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	ENST00000294244.4	37	c.73G>A	CCDS31594.1	.	.	.	.	.	.	.	.	.	.	g	19.07	3.755350	0.69648	.	.	ENSG00000168005	ENST00000294244	T	0.48201	0.82	4.17	4.17	0.49024	.	1.645130	0.04281	N	0.343883	T	0.36468	0.0968	N	0.22421	0.69	0.21105	N	0.999782	P	0.39624	0.681	B	0.31191	0.125	T	0.41484	-0.9506	10	0.87932	D	0	-7.4778	12.3287	0.55026	0.0:0.0:1.0:0.0	.	25	Q9BUA3	CK084_HUMAN	K	25	ENSP00000294244:E25K	ENSP00000294244:E25K	E	+	1	0	C11orf84	63337807	0.156000	0.22821	0.843000	0.33291	0.984000	0.73092	2.412000	0.44609	2.007000	0.58848	0.457000	0.33378	GAG		0.677	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		9	29	0	0	0	0	9	29				
FERMT3	83706	broad.mit.edu	37	11	63990903	63990903	+	Missense_Mutation	SNP	G	G	A	rs368565732		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:63990903G>A	ENST00000279227.5	+	15	2038	c.1943G>A	c.(1942-1944)cGt>cAt	p.R648H	TRPT1_ENST00000540472.1_5'Flank|NUDT22_ENST00000279206.3_5'Flank|NUDT22_ENST00000441250.2_5'Flank|FERMT3_ENST00000345728.5_Missense_Mutation_p.R644H	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	648					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GAGCGGGCCCGTGGGGAGGAG	0.612																																						uc001nyl.2		NA																	0				ovary(1)	1						c.(1942-1944)CGT>CAT		fermitin family homolog 3 long form							39.0	40.0	40.0					11																	63990903		2201	4297	6498	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63990903G>A	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1943G>A	11.37:g.63990903G>A	ENSP00000279227:p.Arg648His					FERMT3_uc001nym.2_Missense_Mutation_p.R644H|NUDT22_uc009ypd.2_5'Flank|NUDT22_uc001nyp.3_5'Flank|NUDT22_uc009ype.2_5'Flank|NUDT22_uc001nyq.3_5'Flank	p.R648H	NM_178443	NP_848537	Q86UX7	URP2_HUMAN			15	2092	+			648					Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.1943G>A	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706037	0.48412	.	.	ENSG00000149781	ENST00000345728;ENST00000279227;ENST00000545896	T;T;T	0.34072	1.38;1.38;1.38	5.33	3.47	0.39725	.	0.289104	0.33180	N	0.005181	T	0.17195	0.0413	N	0.03608	-0.345	0.33600	D	0.602235	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09335	-1.0679	10	0.49607	T	0.09	-7.4946	10.8502	0.46765	0.1559:0.0:0.8441:0.0	.	644;648	Q86UX7-2;Q86UX7	.;URP2_HUMAN	H	644;648;165	ENSP00000339950:R644H;ENSP00000279227:R648H;ENSP00000440209:R165H	ENSP00000279227:R648H	R	+	2	0	FERMT3	63747479	0.998000	0.40836	0.582000	0.28627	0.986000	0.74619	3.098000	0.50259	0.759000	0.33084	0.561000	0.74099	CGT		0.612	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		8	42	0	0	0	0	8	42				
ESRRA	2101	broad.mit.edu	37	11	64082296	64082296	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:64082296G>A	ENST00000405666.1	+	5	889	c.655G>A	c.(655-657)Gat>Aat	p.D219N	ESRRA_ENST00000406310.1_Missense_Mutation_p.D218N|ESRRA_ENST00000000442.6_Missense_Mutation_p.D219N	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	219	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGCAGGCCCTGATGGGCACCT	0.587																																						uc001nzq.1		NA																	0					0						c.(655-657)GAT>AAT		estrogen-related receptor alpha							58.0	60.0	59.0					11																	64082296		2051	4215	6266	SO:0001583	missense	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64082296G>A	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.655G>A	11.37:g.64082296G>A	ENSP00000384851:p.Asp219Asn					ESRRA_uc001nzr.1_Missense_Mutation_p.D218N|ESRRA_uc001nzs.1_Missense_Mutation_p.D219N|ESRRA_uc009ypn.1_Intron	p.D219N	NM_004451	NP_004442	P11474	ERR1_HUMAN			5	832	+			219			Ligand binding domain.		Q14514	Missense_Mutation	SNP	ENST00000405666.1	37	c.655G>A	CCDS41667.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883096	0.51908	.	.	ENSG00000173153	ENST00000406310;ENST00000000442;ENST00000539594;ENST00000405666	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	3.99	3.99	0.46301	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	M	0.67700	2.07	0.80722	D	1	P;P	0.48764	0.809;0.915	B;P	0.47705	0.353;0.555	T	0.36359	-0.9751	10	0.31617	T	0.26	.	13.9885	0.64350	0.0:0.0:1.0:0.0	.	218;219	P11474-2;P11474	.;ERR1_HUMAN	N	218;219;76;219	ENSP00000385971:D218N;ENSP00000000442:D219N;ENSP00000439896:D76N;ENSP00000384851:D219N	ENSP00000000442:D219N	D	+	1	0	ESRRA	63838872	1.000000	0.71417	0.991000	0.47740	0.890000	0.51754	9.482000	0.97935	2.232000	0.73038	0.462000	0.41574	GAT		0.587	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451		17	50	0	0	0	0	17	50				
AIP	9049	broad.mit.edu	37	11	67254633	67254633	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:67254633G>C	ENST00000279146.3	+	2	374	c.256G>C	c.(256-258)Gcc>Ccc	p.A86P		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	86	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GAF domain binding (GO:0036004)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						AGGGGAGATTGCCCAGTTCCT	0.582									Familial Isolated Pituitary Adenoma																													uc001olv.2		NA																	0					0						c.(256-258)GCC>CCC		aryl hydrocarbon receptor interacting protein							274.0	230.0	245.0					11																	67254633		2200	4295	6495	SO:0001583	missense	9049	Familial_Isolated_Pituitary_Adenoma_	Familial Cancer Database	FIPA, incl. Familial Isolated Somatotropinomas, FIS, IFS, Familial Acromegaly	protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding	g.chr11:67254633G>C	U31913	CCDS8168.1	11q13.3	2014-09-17	2001-11-29		ENSG00000110711	ENSG00000110711			358	protein-coding gene	gene with protein product		605555	"""aryl hydrocarbon receptor-interacting protein"""			8972861, 9111057	Standard	NM_003977		Approved	XAP2, ARA9, FKBP16	uc001olv.3	O00170	OTTHUMG00000167674	ENST00000279146.3:c.256G>C	11.37:g.67254633G>C	ENSP00000279146:p.Ala86Pro						p.A86P	NM_003977	NP_003968	O00170	AIP_HUMAN			2	381	+			86			PPIase FKBP-type.		A0SZW3|A0SZW4|A0SZW5|A0SZW6|Q2M3Q2|Q99606	Missense_Mutation	SNP	ENST00000279146.3	37	c.256G>C	CCDS8168.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449006	0.84101	.	.	ENSG00000110711	ENST00000528641;ENST00000279146;ENST00000529797	D;D;D	0.86956	-2.19;-2.19;-2.19	5.16	4.21	0.49690	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.057898	0.64402	D	0.000002	D	0.94192	0.8136	M	0.93854	3.465	0.80722	D	1	D	0.55385	0.971	P	0.61940	0.896	D	0.94828	0.7993	10	0.62326	D	0.03	-19.4814	13.3359	0.60518	0.0:0.0:0.8404:0.1596	.	86	O00170	AIP_HUMAN	P	86	ENSP00000434982:A86P;ENSP00000279146:A86P;ENSP00000434580:A86P	ENSP00000279146:A86P	A	+	1	0	AIP	67011209	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.256000	0.78350	1.094000	0.41399	0.491000	0.48974	GCC		0.582	AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395516.1			11	129	0	0	0	0	11	129				
ARAP1	116985	broad.mit.edu	37	11	72409008	72409008	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:72409008G>A	ENST00000393609.3	-	19	2887	c.2685C>T	c.(2683-2685)ttC>ttT	p.F895F	ARAP1_ENST00000334211.8_Silent_p.F650F|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000429686.1_Silent_p.F589F|ARAP1_ENST00000393605.3_Silent_p.F655F|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Silent_p.F650F|ARAP1_ENST00000359373.5_Silent_p.F895F|ARAP1_ENST00000455638.2_Silent_p.F895F	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	895					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCCCCTCCGGGAAGACAGCAC	0.657																																					Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.2		NA																	0				skin(1)	1						c.(2683-2685)TTC>TTT		ArfGAP with RhoGAP domain, ankyrin repeat and PH							22.0	26.0	25.0					11																	72409008		2198	4289	6487	SO:0001819	synonymous_variant	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72409008G>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2685C>T	11.37:g.72409008G>A						ARAP1_uc001osv.2_Silent_p.F895F|ARAP1_uc001osr.2_Silent_p.F655F|ARAP1_uc001oss.2_Silent_p.F650F|ARAP1_uc009yth.2_Silent_p.F589F|ARAP1_uc010rre.1_Silent_p.F650F|ARAP1_uc001osw.1_Silent_p.F183F	p.F895F	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN			19	2874	-			895					A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	c.2685C>T	CCDS41687.1																																																																																				0.657	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		3	21	0	0	0	0	3	21				
RNF169	254225	broad.mit.edu	37	11	74546869	74546869	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:74546869C>G	ENST00000299563.4	+	6	1234	c.1221C>G	c.(1219-1221)atC>atG	p.I407M		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	407					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CTCTCATCATCAAATCAACTC	0.493																																						uc001ovl.3		NA																	0				ovary(1)	1						c.(1219-1221)ATC>ATG		ring finger protein 169							133.0	138.0	136.0					11																	74546869		1982	4161	6143	SO:0001583	missense	254225						zinc ion binding	g.chr11:74546869C>G	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.1221C>G	11.37:g.74546869C>G	ENSP00000299563:p.Ile407Met					XRRA1_uc001ovm.2_Intron	p.I407M	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN			6	1234	+			407					Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	c.1221C>G	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888097	0.52014	.	.	ENSG00000166439	ENST00000299563	T	0.60299	0.2	5.99	3.01	0.34805	.	0.046444	0.85682	D	0.000000	T	0.69922	0.3165	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.70292	-0.4912	10	0.87932	D	0	-15.5235	7.1557	0.25637	0.1388:0.7111:0.0:0.1501	.	407	Q8NCN4	RN169_HUMAN	M	407	ENSP00000299563:I407M	ENSP00000299563:I407M	I	+	3	3	RNF169	74224517	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.600000	0.24104	0.862000	0.35528	0.655000	0.94253	ATC		0.493	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		38	120	0	0	0	0	38	120				
PRKRIR	5612	broad.mit.edu	37	11	76062393	76062393	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:76062393C>T	ENST00000260045.3	-	5	1906	c.1801G>A	c.(1801-1803)Gct>Act	p.A601T	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	601					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CATTTAAGAGCTTTGAGGTGC	0.413																																						uc001oxh.1		NA																	0				ovary(2)|pancreas(1)	3						c.(1801-1803)GCT>ACT		protein-kinase, interferon-inducible double							75.0	71.0	73.0					11																	76062393		2200	4284	6484	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76062393C>T	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1801G>A	11.37:g.76062393C>T	ENSP00000260045:p.Ala601Thr					PRKRIR_uc010rrz.1_Missense_Mutation_p.A426T	p.A601T	NM_004705	NP_004696	O43422	P52K_HUMAN			5	1801	-			601					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.1801G>A	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978748	0.74360	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.22743	1.94;1.94	5.13	3.25	0.37280	Ribonuclease H-like (1);	0.044430	0.85682	D	0.000000	T	0.27098	0.0664	M	0.68952	2.095	0.53688	D	0.999973	D	0.53312	0.959	P	0.49887	0.625	T	0.09079	-1.0691	10	0.13853	T	0.58	.	10.2187	0.43184	0.1365:0.7924:0.0:0.0711	.	601	O43422	P52K_HUMAN	T	426;601	ENSP00000436249:A426T;ENSP00000260045:A601T	ENSP00000260045:A601T	A	-	1	0	PRKRIR	75740041	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.325000	0.59234	0.699000	0.31761	0.644000	0.83932	GCT		0.413	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		37	89	0	0	0	0	37	89				
MYO7A	4647	broad.mit.edu	37	11	76873901	76873901	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:76873901C>T	ENST00000409709.3	+	14	1829	c.1557C>T	c.(1555-1557)ggC>ggT	p.G519G	MYO7A_ENST00000409619.2_Silent_p.G508G|MYO7A_ENST00000409893.1_Silent_p.G519G|MYO7A_ENST00000458637.2_Silent_p.G519G	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	519	Myosin motor.		G -> D (in USH1B; the deleterious effect remains to be proven). {ECO:0000269|PubMed:10930322, ECO:0000269|PubMed:16679490}.		actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTCCCCAGGGCACAGACACCA	0.597																																						uc001oyb.2		NA																	0				ovary(3)|breast(1)	4						c.(1555-1557)GGC>GGT		myosin VIIA isoform 1							144.0	162.0	156.0					11																	76873901		2144	4234	6378	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76873901C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1557C>T	11.37:g.76873901C>T						MYO7A_uc010rsl.1_Silent_p.G519G|MYO7A_uc010rsm.1_Silent_p.G508G|MYO7A_uc001oyc.2_Silent_p.G519G	p.G519G	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			14	1829	+			519		G -> D (in USH1B; the deleterious effect remains to be proven).	Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.1557C>T	CCDS53683.1																																																																																				0.597	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		38	87	0	0	0	0	38	87				
USP35	57558	broad.mit.edu	37	11	77920693	77920693	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:77920693C>G	ENST00000529308.1	+	10	2053	c.1792C>G	c.(1792-1794)Ctc>Gtc	p.L598V	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.L329V|USP35_ENST00000530267.1_Missense_Mutation_p.L166V|USP35_ENST00000441408.2_Missense_Mutation_p.L184V	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	598	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GGACCTCTCTCTCGCCTTCCC	0.622																																						uc009yva.1		NA																	0				lung(2)|ovary(1)	3						c.(1792-1794)CTC>GTC		ubiquitin specific protease 35							59.0	65.0	63.0					11																	77920693		2043	4188	6231	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77920693C>G	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1792C>G	11.37:g.77920693C>G	ENSP00000431876:p.Leu598Val					USP35_uc001oze.2_Missense_Mutation_p.L354V|USP35_uc001ozc.2_Missense_Mutation_p.L166V|USP35_uc010rsp.1_Missense_Mutation_p.L30V|USP35_uc001ozd.2_Missense_Mutation_p.L209V|USP35_uc001ozf.2_Missense_Mutation_p.L329V	p.L598V	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		10	2038	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		598						Missense_Mutation	SNP	ENST00000529308.1	37	c.1792C>G	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	c	13.07	2.126370	0.37533	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	4.68	2.76	0.32466	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.46758	D	0.000268	T	0.10035	0.0246	L	0.47190	1.495	0.09310	N	0.999998	B;P	0.37663	0.142;0.604	B;B	0.38954	0.096;0.286	T	0.16247	-1.0409	10	0.37606	T	0.19	-12.9998	6.4986	0.22155	0.0:0.6365:0.1416:0.2219	.	598;184	Q9P2H5;E7EWV7	UBP35_HUMAN;.	V	166;598;184;329	ENSP00000435468:L166V;ENSP00000431876:L598V;ENSP00000400825:L184V;ENSP00000434942:L329V	ENSP00000400825:L184V	L	+	1	0	USP35	77598341	0.093000	0.21703	0.075000	0.20258	0.974000	0.67602	0.499000	0.22546	0.541000	0.28827	0.586000	0.80456	CTC		0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		10	132	0	0	0	0	10	132				
ZC3H12C	85463	broad.mit.edu	37	11	110023720	110023720	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:110023720G>C	ENST00000278590.3	+	3	901	c.850G>C	c.(850-852)Gac>Cac	p.D284H	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.D253H|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D285H	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	284							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AGGCCACAAAGACATTACAGT	0.428																																						uc009yxw.2		NA																	0					0						c.(850-852)GAC>CAC		zinc finger CCCH-type containing 12C							58.0	56.0	57.0					11																	110023720		1854	4087	5941	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110023720G>C		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.850G>C	11.37:g.110023720G>C	ENSP00000278590:p.Asp284His					ZC3H12C_uc010rwc.1_Missense_Mutation_p.D285H|ZC3H12C_uc010rwd.1_Missense_Mutation_p.D285H|ZC3H12C_uc001pkr.3_Missense_Mutation_p.D253H|ZC3H12C_uc001pkq.2_Missense_Mutation_p.D253H	p.D284H	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	3	901	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	284					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.850G>C	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976656	0.92982	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.45276	0.9;0.9;0.9	5.86	5.86	0.93980	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.70753	0.3260	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.992	T	0.73808	-0.3866	10	0.72032	D	0.01	-26.3957	20.1864	0.98220	0.0:0.0:1.0:0.0	.	285;284;284	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	H	284;285;253	ENSP00000278590:D284H;ENSP00000431821:D285H;ENSP00000413094:D253H	ENSP00000278590:D284H	D	+	1	0	ZC3H12C	109528930	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	9.476000	0.97823	2.781000	0.95711	0.650000	0.86243	GAC		0.428	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		3	7	0	0	0	0	3	7				
IL10RA	3587	broad.mit.edu	37	11	117860224	117860224	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:117860224G>A	ENST00000227752.3	+	3	376	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Intron|IL10RA_ENST00000541785.1_Missense_Mutation_p.V66M	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	86					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CCTTACCGCAGTGACCTTGGA	0.577																																						uc001prv.2		NA																	0				ovary(1)	1						c.(256-258)GTG>ATG		interleukin 10 receptor, alpha precursor							154.0	124.0	134.0					11																	117860224		2200	4296	6496	SO:0001583	missense	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117860224G>A	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.256G>A	11.37:g.117860224G>A	ENSP00000227752:p.Val86Met					IL10RA_uc010rxl.1_Missense_Mutation_p.V66M|IL10RA_uc010rxm.1_Missense_Mutation_p.V66M|IL10RA_uc010rxn.1_Intron|IL10RA_uc001prw.2_Translation_Start_Site	p.V86M	NM_001558	NP_001549	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	3	333	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	86			Extracellular (Potential).		A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	37	c.256G>A	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314239	0.40996	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000536858	T;T	0.74315	-0.83;-0.83	5.14	-6.09	0.02145	Fibronectin, type III (1);Immunoglobulin-like fold (1);	2.922840	0.01116	N	0.005691	T	0.62208	0.2409	L	0.39898	1.24	0.09310	N	1	P;P	0.51653	0.934;0.947	B;P	0.44477	0.322;0.451	T	0.60495	-0.7252	10	0.33940	T	0.23	3.309	2.6644	0.05037	0.1397:0.3667:0.2343:0.2594	.	66;86	F5GYV8;Q13651	.;I10R1_HUMAN	M	86;66;66	ENSP00000227752:V86M;ENSP00000441397:V66M	ENSP00000227752:V86M	V	+	1	0	IL10RA	117365434	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.515000	0.06290	-0.863000	0.04084	0.563000	0.77884	GTG		0.577	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			28	37	0	0	0	0	28	37				
ARCN1	372	broad.mit.edu	37	11	118453900	118453900	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:118453900G>A	ENST00000264028.4	+	3	369	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	ARCN1_ENST00000359415.4_Missense_Mutation_p.E133K|ARCN1_ENST00000392859.3_Missense_Mutation_p.E4K|ARCN1_ENST00000534182.2_Intron	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	92					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTAGATCCCTGAATATTGCCG	0.348																																						uc001ptq.2		NA																	0					0						c.(274-276)GAA>AAA		archain isoform 1							151.0	151.0	151.0					11																	118453900		2200	4295	6495	SO:0001583	missense	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118453900G>A	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.274G>A	11.37:g.118453900G>A	ENSP00000264028:p.Glu92Lys					ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Missense_Mutation_p.E4K|ARCN1_uc009zag.2_Missense_Mutation_p.E133K	p.E92K	NM_001655	NP_001646	P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	3	435	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	92					B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	c.274G>A	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	G	35	5.458110	0.96240	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000542521;ENST00000264028	T;T;T	0.37752	1.18;1.38;1.39	5.78	5.78	0.91487	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.70002	0.3174	M	0.91510	3.215	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.993	D;D;D	0.75484	0.986;0.974;0.909	T	0.75806	-0.3188	10	0.66056	D	0.02	-2.6461	19.6075	0.95586	0.0:0.0:1.0:0.0	.	4;133;92	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	K	4;133;92;92	ENSP00000376599:E4K;ENSP00000352385:E133K;ENSP00000264028:E92K	ENSP00000264028:E92K	E	+	1	0	ARCN1	117959110	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.391000	0.97249	2.749000	0.94314	0.655000	0.94253	GAA		0.348	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			35	53	0	0	0	0	35	53				
OR10G4	390264	broad.mit.edu	37	11	123886938	123886938	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:123886938C>A	ENST00000320891.4	+	1	657	c.657C>A	c.(655-657)tcC>tcA	p.S219S		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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)		CCTATGTGTCCATCGTCTGTT	0.542																																						uc010sac.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(655-657)TCC>TCA		olfactory receptor, family 10, subfamily G,							218.0	179.0	192.0					11																	123886938		2201	4299	6500	SO:0001819	synonymous_variant	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886938C>A	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.657C>A	11.37:g.123886938C>A							p.S219S	NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	657	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	219			Cytoplasmic (Potential).		Q6IEW0	Silent	SNP	ENST00000320891.4	37	c.657C>A	CCDS31702.1																																																																																				0.542	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		36	60	1	0	5.83e-16	6.33e-16	36	60				
TMEM45B	120224	broad.mit.edu	37	11	129724648	129724648	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:129724648C>G	ENST00000524567.1	+	3	603	c.322C>G	c.(322-324)Ctg>Gtg	p.L108V	TMEM45B_ENST00000281441.3_Missense_Mutation_p.L108V			Q96B21	TM45B_HUMAN	transmembrane protein 45B	108						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GCTCACCTATCTGGTCAGCCA	0.483																																						uc001qfe.1		NA																	0					0						c.(322-324)CTG>GTG		transmembrane protein 45B							180.0	161.0	167.0					11																	129724648		2201	4297	6498	SO:0001583	missense	120224					integral to membrane		g.chr11:129724648C>G	AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.322C>G	11.37:g.129724648C>G	ENSP00000436293:p.Leu108Val					TMEM45B_uc001qff.1_Missense_Mutation_p.L108V	p.L108V	NM_138788	NP_620143	Q96B21	TM45B_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)	3	383	+	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	108			Helical; (Potential).		A8K2L8	Missense_Mutation	SNP	ENST00000524567.1	37	c.322C>G	CCDS8482.1	.	.	.	.	.	.	.	.	.	.	C	2.108	-0.404455	0.04832	.	.	ENSG00000151715	ENST00000281441;ENST00000524567	T;T	0.32515	1.45;1.45	5.78	3.92	0.45320	.	0.524028	0.22162	N	0.063778	T	0.27594	0.0678	M	0.66939	2.045	0.09310	N	1	B	0.18610	0.029	B	0.16722	0.016	T	0.28776	-1.0033	10	0.14252	T	0.57	-11.7311	7.6649	0.28426	0.0:0.7127:0.1363:0.151	.	108	Q96B21	TM45B_HUMAN	V	108	ENSP00000281441:L108V;ENSP00000436293:L108V	ENSP00000281441:L108V	L	+	1	2	TMEM45B	129229858	0.000000	0.05858	0.004000	0.12327	0.775000	0.43874	-0.501000	0.06398	0.787000	0.33731	0.637000	0.83480	CTG		0.483	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788		29	40	0	0	0	0	29	40				
B4GALNT3	283358	broad.mit.edu	37	12	662840	662840	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:662840G>A	ENST00000266383.5	+	14	1764	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	584					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CAGGCCCCTGGAAGGGGCTGG	0.642																																						uc001qii.1		NA																	0				ovary(1)|skin(1)	2						c.(1750-1752)GGA>GAA		beta							31.0	33.0	33.0					12																	662840		2201	4296	6497	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:662840G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1751G>A	12.37:g.662840G>A	ENSP00000266383:p.Gly584Glu					B4GALNT3_uc001qij.1_Missense_Mutation_p.G487E|B4GALNT3_uc001qik.1_Missense_Mutation_p.G133E	p.G584E	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		14	1751	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		584			Lumenal (Potential).		Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.1751G>A	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	9.144	1.014545	0.19355	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.29142	3.63;1.58	5.41	3.59	0.41128	.	1.202480	0.05382	N	0.537314	T	0.20047	0.0482	N	0.08118	0	0.09310	N	1	B;B	0.23442	0.085;0.013	B;B	0.19666	0.026;0.006	T	0.30208	-0.9986	10	0.48119	T	0.1	-1.1074	10.4854	0.44719	0.1362:0.0:0.8638:0.0	.	487;584	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	E	584;487	ENSP00000266383:G584E;ENSP00000322953:G487E	ENSP00000266383:G584E	G	+	2	0	B4GALNT3	533101	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.579000	0.23788	0.668000	0.31126	0.561000	0.74099	GGA		0.642	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		9	36	0	0	0	0	9	36				
AKAP3	10566	broad.mit.edu	37	12	4736776	4736776	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:4736776C>G	ENST00000545990.2	-	5	1816	c.1292G>C	c.(1291-1293)aGa>aCa	p.R431T	AKAP3_ENST00000228850.1_Missense_Mutation_p.R431T|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	431					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CATTTTTTCTCTCAATTTAGT	0.408																																						uc001qnb.3		NA																	0				skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						c.(1291-1293)AGA>ACA		A-kinase anchor protein 3							115.0	117.0	116.0					12																	4736776		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4736776C>G	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1292G>C	12.37:g.4736776C>G	ENSP00000440994:p.Arg431Thr						p.R431T	NM_006422	NP_006413	O75969	AKAP3_HUMAN			4	1521	-			431					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.1292G>C	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	5.674	0.308859	0.10733	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.09538	2.97;2.97	5.77	-2.64	0.06114	A-kinase anchor 110kDa, C-terminal (1);	0.531004	0.19921	N	0.103100	T	0.10423	0.0255	L	0.60455	1.87	0.09310	N	1	P	0.34587	0.458	B	0.38056	0.264	T	0.12837	-1.0532	10	0.54805	T	0.06	-1.7592	5.9748	0.19373	0.1262:0.3815:0.0:0.4923	.	431	O75969	AKAP3_HUMAN	T	431	ENSP00000228850:R431T;ENSP00000440994:R431T	ENSP00000228850:R431T	R	-	2	0	AKAP3	4607037	0.001000	0.12720	0.000000	0.03702	0.030000	0.12068	-0.392000	0.07314	-0.772000	0.04602	0.655000	0.94253	AGA		0.408	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		21	108	0	0	0	0	21	108				
LTBR	4055	broad.mit.edu	37	12	6499994	6499994	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:6499994C>G	ENST00000228918.4	+	10	1525	c.1199C>G	c.(1198-1200)tCt>tGt	p.S400C	LTBR_ENST00000539925.1_Missense_Mutation_p.S381C|LTBR_ENST00000541102.1_Missense_Mutation_p.S257C	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	400					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CCCGGGCTCTCTACACCCCAC	0.632																																						uc001qny.1		NA																	0				lung(2)	2						c.(1198-1200)TCT>TGT		lymphotoxin beta receptor precursor							85.0	93.0	90.0					12																	6499994		2203	4300	6503	SO:0001583	missense	4055				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	g.chr12:6499994C>G	L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.1199C>G	12.37:g.6499994C>G	ENSP00000228918:p.Ser400Cys					LTBR_uc010sfc.1_Missense_Mutation_p.S381C|LTBR_uc001qnz.1_Missense_Mutation_p.S395C	p.S400C	NM_002342	NP_002333	P36941	TNR3_HUMAN			10	1367	+			400			Cytoplasmic (Potential).		B7Z1D2|D3DUR2|F5GXE7	Missense_Mutation	SNP	ENST00000228918.4	37	c.1199C>G	CCDS8544.1	.	.	.	.	.	.	.	.	.	.	C	9.618	1.133134	0.21041	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000540343;ENST00000541102	T;T;T	0.40756	1.02;1.02;1.02	4.5	2.54	0.30619	.	0.687158	0.12879	N	0.431631	T	0.50274	0.1606	L	0.34521	1.04	0.09310	N	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.70935	0.971;0.936;0.936	T	0.34403	-0.9830	10	0.87932	D	0	-8.6092	10.3208	0.43764	0.0:0.5755:0.4245:0.0	.	381;381;400	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	C	381;400;293;257	ENSP00000440875:S381C;ENSP00000228918:S400C;ENSP00000438605:S257C	ENSP00000228918:S400C	S	+	2	0	LTBR	6370255	0.002000	0.14202	0.021000	0.16686	0.054000	0.15201	0.448000	0.21726	1.096000	0.41439	-0.305000	0.09177	TCT		0.632	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1			56	123	0	0	0	0	56	123				
C12orf57	113246	broad.mit.edu	37	12	7054986	7054986	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:7054986G>A	ENST00000229281.5	+	3	381	c.282G>A	c.(280-282)gaG>gaA	p.E94E	C12orf57_ENST00000542222.1_3'UTR|PTPN6_ENST00000447931.2_5'Flank|C12orf57_ENST00000540506.2_Silent_p.E59E|RNU7-1_ENST00000458811.1_RNA|PTPN6_ENST00000399448.1_5'Flank|U47924.31_ENST00000607421.1_RNA|C12orf57_ENST00000537087.1_Silent_p.E65E	NM_138425.2	NP_612434.1	Q99622	C10_HUMAN	chromosome 12 open reading frame 57	94						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)	2						AGGATCCTGAGATCGCCAGCC	0.617																																						uc001qrz.2		NA																	0					0						c.(280-282)GAG>GAA		C10 protein							80.0	62.0	68.0					12																	7054986		2203	4300	6503	SO:0001819	synonymous_variant	113246							g.chr12:7054986G>A	U47924	CCDS8571.1	12p13.31	2012-05-30			ENSG00000111678	ENSG00000111678			29521	protein-coding gene	gene with protein product		615140				9445485	Standard	NM_138425		Approved	GRCC10, C10	uc009zfj.2	Q99622	OTTHUMG00000169017	ENST00000229281.5:c.282G>A	12.37:g.7054986G>A						PTPN6_uc001qsa.1_5'Flank|PTPN6_uc010sfr.1_5'Flank	p.E94E	NM_138425	NP_612434	Q99622	C10_HUMAN			3	364	+			94					B2R4Q6	Silent	SNP	ENST00000229281.5	37	c.282G>A	CCDS8571.1																																																																																				0.617	C12orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401959.1	NM_138425		8	26	0	0	0	0	8	26				
C1RL	51279	broad.mit.edu	37	12	7260991	7260991	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:7260991C>T	ENST00000266542.4	-	2	248	c.156G>A	c.(154-156)ctG>ctA	p.L52L	C1RL-AS1_ENST00000382215.3_RNA|C1RL_ENST00000544702.1_Silent_p.L52L|C1RL-AS1_ENST00000435921.2_RNA|C1RL_ENST00000545280.1_Intron|C1RL-AS1_ENST00000536679.1_RNA|C1RL-AS1_ENST00000541775.1_RNA|C1RL_ENST00000545337.1_Silent_p.L52L	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	52	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGGGGGATGTCAGCTGCTGGG	0.632																																						uc001qsn.2		NA																	0				pancreas(1)	1						c.(154-156)CTG>CTA		complement component 1, r subcomponent-like							67.0	73.0	71.0					12																	7260991		2203	4300	6503	SO:0001819	synonymous_variant	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7260991C>T	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.156G>A	12.37:g.7260991C>T						C1RL_uc009zft.2_Silent_p.L52L|C1RL_uc001qso.1_Silent_p.L52L|LOC283314_uc001qsp.2_RNA|LOC283314_uc010sgb.1_5'Flank	p.L52L	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN			2	173	-			52			CUB.		Q53GX9	Silent	SNP	ENST00000266542.4	37	c.156G>A	CCDS8573.1																																																																																				0.632	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		18	55	0	0	0	0	18	55				
KLRC3	3823	broad.mit.edu	37	12	10570960	10570960	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:10570960C>G	ENST00000396439.2	-	4	513	c.469G>C	c.(469-471)Gat>Cat	p.D157H	KLRC3_ENST00000381904.2_Missense_Mutation_p.D157H|NKG2-E_ENST00000539033.1_Missense_Mutation_p.D157H|KLRC3_ENST00000381903.2_Missense_Mutation_p.D157H	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	157	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCTTCATTATCTATACAAAGC	0.323																																						uc001qyf.2		NA																	0				ovary(2)|skin(1)	3						c.(469-471)GAT>CAT		killer cell lectin-like receptor subfamily C,							109.0	118.0	115.0					12																	10570960		2203	4300	6503	SO:0001583	missense	3823				cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity	g.chr12:10570960C>G	L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"""Killer cell lectin-like receptors"""	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.469G>C	12.37:g.10570960C>G	ENSP00000379716:p.Asp157His					KLRC3_uc001qyh.2_Missense_Mutation_p.D157H|KLRC3_uc001qyi.1_Missense_Mutation_p.D157H|KLRC3_uc010shc.1_Nonstop_Mutation_p.*140Y|KLRC3_uc010shd.1_3'UTR	p.D157H	NM_002261	NP_002252	Q07444	NKG2E_HUMAN			4	514	-			157			C-type lectin.|Extracellular (Potential).		Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	c.469G>C	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	c	12.84	2.058806	0.36277	.	.	ENSG00000255641;ENSG00000205810;ENSG00000205810;ENSG00000205810	ENST00000539033;ENST00000396439;ENST00000381904;ENST00000381903	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	2.34	2.34	0.29019	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.50627	D	0.000106	T	0.33556	0.0867	M	0.89287	3.02	0.31356	N	0.681874	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.83275	0.996;0.978;0.97	T	0.37820	-0.9689	10	0.87932	D	0	.	8.3232	0.32140	0.0:1.0:0.0:0.0	.	157;157;157	Q07444-2;F5H6K3;Q07444	.;.;NKG2E_HUMAN	H	157	ENSP00000437563:D157H;ENSP00000379716:D157H;ENSP00000371329:D157H;ENSP00000371328:D157H	ENSP00000371328:D157H	D	-	1	0	KLRC3;RP11-277P12.6	10462227	0.318000	0.24598	0.687000	0.30102	0.068000	0.16541	2.368000	0.44222	1.645000	0.50612	0.454000	0.30748	GAT		0.323	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261		29	84	0	0	0	0	29	84				
SMCO3	440087	broad.mit.edu	37	12	14959195	14959195	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:14959195G>A	ENST00000316048.2	-	2	492	c.420C>T	c.(418-420)gtC>gtT	p.V140V	C12orf60_ENST00000330828.2_Intron|WBP11_ENST00000261167.2_5'Flank|C12orf60_ENST00000527783.1_Intron	NM_001013698.2	NP_001013720.2	A2RU48	SMCO3_HUMAN	single-pass membrane protein with coiled-coil domains 3	140						integral component of membrane (GO:0016021)											TGCCAGTTGTGACATTTGAGC	0.438																																						uc001rck.1		NA																	0					0						c.(418-420)GTC>GTT		hypothetical protein LOC440087							119.0	115.0	116.0					12																	14959195		1997	4168	6165	SO:0001819	synonymous_variant	440087					integral to membrane		g.chr12:14959195G>A		CCDS41759.1	12p12.3	2013-03-11	2013-03-11	2013-03-11	ENSG00000179256	ENSG00000179256			34401	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 69"""	C12orf69			Standard	NM_001013698		Approved	LOC440087	uc001rck.1	A2RU48	OTTHUMG00000167474	ENST00000316048.2:c.420C>T	12.37:g.14959195G>A						WBP11_uc001rci.2_5'Flank|C12orf60_uc001rcj.3_Intron	p.V140V	NM_001013698	NP_001013720	A2RU48	CL069_HUMAN			2	493	-			140					Q8NAI5	Silent	SNP	ENST00000316048.2	37	c.420C>T	CCDS41759.1																																																																																				0.438	SMCO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394738.1	NM_001013698		5	110	0	0	0	0	5	110				
PDE3A	5139	broad.mit.edu	37	12	20799804	20799804	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:20799804C>A	ENST00000359062.3	+	12	2525	c.2485C>A	c.(2485-2487)Ctg>Atg	p.L829M	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	829	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GTTGATGGCGCTGTATGTGGC	0.428																																						uc001reh.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(2485-2487)CTG>ATG		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						179.0	168.0	172.0					12																	20799804		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20799804C>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2485C>A	12.37:g.20799804C>A	ENSP00000351957:p.Leu829Met						p.L829M	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			12	2507	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	829			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.2485C>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583614	0.65992	.	.	ENSG00000172572	ENST00000359062	D	0.83335	-1.71	5.85	4.04	0.47022	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.137385	0.50627	D	0.000111	D	0.88422	0.6432	L	0.58428	1.81	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.87715	0.2569	10	0.52906	T	0.07	.	12.5996	0.56489	0.0:0.866:0.0:0.134	.	829	Q14432	PDE3A_HUMAN	M	829	ENSP00000351957:L829M	ENSP00000351957:L829M	L	+	1	2	PDE3A	20691071	0.222000	0.23652	0.266000	0.24541	0.950000	0.60333	0.851000	0.27751	0.829000	0.34733	-0.152000	0.13540	CTG		0.428	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			33	126	1	0	1.63e-12	1.75e-12	33	126				
SLCO1B1	10599	broad.mit.edu	37	12	21358889	21358889	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:21358889C>G	ENST00000256958.2	+	11	1515	c.1419C>G	c.(1417-1419)gtC>gtG	p.V473V		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	473	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GGGAACCAGTCTGTGGAAACA	0.368																																						uc001req.3		NA																	0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(1417-1419)GTC>GTG		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						141.0	139.0	139.0					12																	21358889		2203	4299	6502	SO:0001819	synonymous_variant	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21358889C>G		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1419C>G	12.37:g.21358889C>G							p.V473V	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			11	1523	+			473			Extracellular (Potential).|Kazal-like.		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	ENST00000256958.2	37	c.1419C>G	CCDS8685.1																																																																																				0.368	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		11	82	0	0	0	0	11	82				
SSPN	8082	broad.mit.edu	37	12	26377309	26377309	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:26377309G>C	ENST00000242729.2	+	2	540	c.363G>C	c.(361-363)atG>atC	p.M121I	SSPN_ENST00000540266.1_Missense_Mutation_p.M18I|RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000422622.2_Missense_Mutation_p.M18I|SSPN_ENST00000535504.1_Missense_Mutation_p.M121I	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	121					cell adhesion (GO:0007155)|muscle contraction (GO:0006936)	cell junction (GO:0030054)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					AATTTTCTATGAAAGTAAGTT	0.373																																						uc001rhe.2		NA																	0					0						c.(361-363)ATG>ATC		sarcospan isoform 1							291.0	275.0	280.0					12																	26377309		2203	4300	6503	SO:0001583	missense	8082				cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle		g.chr12:26377309G>C	AF016028	CCDS8707.1, CCDS44850.1	12p11.2	2014-09-17	2012-03-14			ENSG00000123096			11322	protein-coding gene	gene with protein product		601599	"""Kras oncogene-associated gene"""	KRAG		9395445, 8661122	Standard	NM_005086		Approved	SPN1, SPN2	uc001rhe.3	Q14714		ENST00000242729.2:c.363G>C	12.37:g.26377309G>C	ENSP00000242729:p.Met121Ile					SSPN_uc001rhd.2_Missense_Mutation_p.M18I|SSPN_uc009zjf.2_Missense_Mutation_p.M121I|SSPN_uc001rhf.3_Intron	p.M121I	NM_005086	NP_005077	Q14714	SSPN_HUMAN			2	463	+	Colorectal(261;0.0847)		121			Cytoplasmic (Potential).		B3KS67	Missense_Mutation	SNP	ENST00000242729.2	37	c.363G>C	CCDS8707.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445552	0.25987	.	.	ENSG00000123096	ENST00000538142;ENST00000540266;ENST00000422622;ENST00000242729;ENST00000441067;ENST00000535504	T;T;T;T	0.02944	4.1;4.1;4.1;4.1	5.24	5.24	0.73138	.	0.271358	0.45361	D	0.000380	T	0.02571	0.0078	L	0.34521	1.04	0.36589	D	0.874012	B;B	0.22003	0.063;0.029	B;B	0.14023	0.01;0.01	T	0.49943	-0.8885	10	0.16896	T	0.51	-22.7874	9.3561	0.38168	0.0788:0.1455:0.7757:0.0	.	121;121	F5H0K2;Q14714	.;SSPN_HUMAN	I	18;18;18;121;95;121	ENSP00000445360:M18I;ENSP00000442893:M18I;ENSP00000396087:M18I;ENSP00000242729:M121I	ENSP00000242729:M121I	M	+	3	0	SSPN	26268576	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.103000	0.41806	2.614000	0.88457	0.655000	0.94253	ATG		0.373	SSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402654.2	NM_005086		45	152	0	0	0	0	45	152				
PPFIBP1	8496	broad.mit.edu	37	12	27834486	27834486	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:27834486G>C	ENST00000318304.8	+	21	2204	c.1921G>C	c.(1921-1923)Gat>Cat	p.D641H	PPFIBP1_ENST00000228425.6_Missense_Mutation_p.D635H|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.D488H|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.D610H	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	641					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TAGTGACTTGGATATGCCATT	0.418																																						uc001ric.1		NA																PPFIBP1/ALK(3)	0				soft_tissue(3)|kidney(1)|skin(1)	5						c.(1921-1923)GAT>CAT		PTPRF interacting protein binding protein 1							174.0	164.0	167.0					12																	27834486		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27834486G>C	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1921G>C	12.37:g.27834486G>C	ENSP00000314724:p.Asp641His					PPFIBP1_uc010sjr.1_Missense_Mutation_p.D472H|PPFIBP1_uc001rib.1_Missense_Mutation_p.D635H|PPFIBP1_uc001ria.2_Missense_Mutation_p.D610H|PPFIBP1_uc001rid.1_Missense_Mutation_p.D488H|PPFIBP1_uc001rif.1_Missense_Mutation_p.D148H	p.D641H	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN			21	2298	+	Lung SC(9;0.0873)		641					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.1921G>C	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074651	0.76415	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	5.24	4.34	0.51931	Sterile alpha motif/pointed domain (1);	0.000000	0.35207	U	0.003361	T	0.38692	0.1050	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D	0.89917	0.99;1.0;1.0;0.997;1.0	D;D;D;D;D	0.91635	0.974;0.999;0.985;0.982;0.994	T	0.22661	-1.0210	10	0.66056	D	0.02	-22.131	15.4355	0.75143	0.0:0.1397:0.8603:0.0	.	488;472;641;635;610	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4	.;.;LIPB1_HUMAN;.;.	H	472;488;641;610;635	ENSP00000444304:D472H;ENSP00000445425:D488H;ENSP00000314724:D641H;ENSP00000443442:D610H;ENSP00000228425:D635H	ENSP00000228425:D635H	D	+	1	0	PPFIBP1	27725753	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.876000	0.87215	1.185000	0.42971	0.655000	0.94253	GAT		0.418	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		11	103	0	0	0	0	11	103				
OVCH1	341350	broad.mit.edu	37	12	29649538	29649538	+	Missense_Mutation	SNP	G	G	C	rs373419953		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:29649538G>C	ENST00000318184.5	-	2	133	c.134C>G	c.(133-135)tCt>tGt	p.S45C		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	45	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACTAATTCTAGAGAAGAATCT	0.413																																						uc001rix.1		NA																	0				ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(133-135)TCT>TGT		ovochymase 1 precursor		G	CYS/SER	0,3748		0,0,1874	135.0	130.0	131.0		134	1.0	0.0	12		131	1,8201		0,1,4100	no	missense	OVCH1	NM_183378.2	112	0,1,5974	CC,CG,GG		0.0122,0.0,0.0084	probably-damaging	45/1135	29649538	1,11949	1874	4101	5975	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29649538G>C	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.134C>G	12.37:g.29649538G>C	ENSP00000326708:p.Ser45Cys						p.S45C	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			2	134	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		45			Peptidase S1 1.			Missense_Mutation	SNP	ENST00000318184.5	37	c.134C>G		.	.	.	.	.	.	.	.	.	.	G	14.40	2.522846	0.44866	0.0	1.22E-4	ENSG00000187950	ENST00000318184	D	0.93547	-3.24	2.89	1.01	0.19927	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	.	.	.	.	D	0.92414	0.7592	M	0.76838	2.35	0.09310	N	1	D	0.64830	0.994	P	0.48189	0.57	D	0.84967	0.0880	9	0.87932	D	0	.	3.3758	0.07237	0.1405:0.0:0.6054:0.2541	.	45	Q7RTY7	OVCH1_HUMAN	C	45	ENSP00000326708:S45C	ENSP00000326708:S45C	S	-	2	0	OVCH1	29540805	0.011000	0.17503	0.000000	0.03702	0.440000	0.31957	1.139000	0.31504	0.269000	0.21961	0.561000	0.74099	TCT		0.413	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		40	90	0	0	0	0	40	90				
KIAA1551	55196	broad.mit.edu	37	12	32135670	32135670	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:32135670C>G	ENST00000312561.4	+	4	2195	c.1781C>G	c.(1780-1782)aCt>aGt	p.T594S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	594																	GCACGTAAGACTCAGAAGACA	0.358																																						uc001rks.2		NA																	0				ovary(1)|skin(1)	2						c.(1780-1782)ACT>AGT		hypothetical protein LOC55196							36.0	36.0	36.0					12																	32135670		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32135670C>G	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1781C>G	12.37:g.32135670C>G	ENSP00000310338:p.Thr594Ser						p.T594S	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	2195	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		594					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.1781C>G	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	8.900	0.956065	0.18507	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.06608	3.94;3.28	4.46	-1.7	0.08159	.	1.202100	0.06316	N	0.703622	T	0.04003	0.0112	N	0.24115	0.695	0.09310	N	1	P	0.36535	0.557	B	0.33521	0.165	T	0.42464	-0.9450	9	.	.	.	.	4.6146	0.12420	0.1586:0.4419:0.0:0.3995	.	594	Q9HCM1	CL035_HUMAN	S	594	ENSP00000310338:T594S;ENSP00000370442:T594S	.	T	+	2	0	C12orf35	32026937	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.769000	0.04710	-0.203000	0.10251	-0.253000	0.11424	ACT		0.358	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		11	16	0	0	0	0	11	16				
ARID2	196528	broad.mit.edu	37	12	46231439	46231439	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:46231439G>A	ENST00000334344.6	+	10	1451	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	ARID2_ENST00000422737.1_Missense_Mutation_p.E278K|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.E56K	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	427					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATGCTCACGGAAATGGGAGA	0.378			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NA		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(1279-1281)GAA>AAA		AT rich interactive domain 2 (ARID, RFX-like)							111.0	103.0	106.0					12																	46231439		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46231439G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1279G>A	12.37:g.46231439G>A	ENSP00000335044:p.Glu427Lys					ARID2_uc001ror.2_Missense_Mutation_p.E427K|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Missense_Mutation_p.E73K|ARID2_uc001rot.1_Missense_Mutation_p.E73K	p.E427K	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	10	1279	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	427					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.1279G>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129449	0.77549	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.33865	1.39	5.3	5.3	0.74995	.	0.119174	0.56097	D	0.000031	T	0.48205	0.1487	L	0.58101	1.795	0.80722	D	1	B;P;B	0.46220	0.13;0.874;0.361	B;P;B	0.50440	0.103;0.641;0.079	T	0.31806	-0.9930	10	0.31617	T	0.26	-13.6075	18.9559	0.92658	0.0:0.0:1.0:0.0	.	427;278;427	Q68CP9-3;F8WCU9;Q68CP9	.;.;ARID2_HUMAN	K	427;278;56	ENSP00000335044:E427K	ENSP00000335044:E427K	E	+	1	0	ARID2	44517706	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.486000	0.81215	2.481000	0.83766	0.313000	0.20887	GAA		0.378	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		18	39	0	0	0	0	18	39				
RAPGEF3	10411	broad.mit.edu	37	12	48143273	48143273	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:48143273G>A	ENST00000449771.2	-	10	1029	c.941C>T	c.(940-942)gCt>gTt	p.A314V	RAPGEF3_ENST00000395358.3_Missense_Mutation_p.A314V|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.A272V|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.A272V|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.A272V|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.A314V|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.A272V			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	314					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ATTCACCAGAGCCAGCTGTCC	0.612																																						uc009zkp.2		NA																	0				lung(2)|skin(1)|pancreas(1)	4						c.(814-816)GCT>GTT		Rap guanine nucleotide exchange factor 3 isoform							93.0	81.0	85.0					12																	48143273		2203	4300	6503	SO:0001583	missense	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48143273G>A	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.941C>T	12.37:g.48143273G>A	ENSP00000395708:p.Ala314Val					RAPGEF3_uc010sln.1_5'Flank|RAPGEF3_uc001rpy.2_5'Flank|RAPGEF3_uc009zkq.2_Missense_Mutation_p.A272V|RAPGEF3_uc001rpz.3_Missense_Mutation_p.A314V|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.2_RNA|RAPGEF3_uc009zks.2_Missense_Mutation_p.A326V|RAPGEF3_uc001rqb.3_Missense_Mutation_p.A314V	p.A272V	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	9	1255	-	Lung SC(27;0.192)		272					A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	c.815C>T	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690767	0.88735	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	D;D;D;D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43;-3.43;-3.43;-3.43	4.28	3.38	0.38709	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.058516	0.64402	D	0.000002	D	0.97692	0.9243	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;P	0.74674	0.984;0.933;0.889	D	0.98190	1.0462	10	0.87932	D	0	.	12.5084	0.55993	0.0:0.0:0.8315:0.1684	.	326;314;314	B7Z5J6;O95398-2;O95398	.;.;RPGF3_HUMAN	V	272;314;272;272;272;314;326;272;314	ENSP00000384521:A272V;ENSP00000395708:A314V;ENSP00000448619:A272V;ENSP00000171000:A272V;ENSP00000373864:A314V;ENSP00000448480:A272V;ENSP00000378764:A314V	ENSP00000171000:A272V	A	-	2	0	RAPGEF3	46429540	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.045000	0.93812	1.134000	0.42165	0.650000	0.86243	GCT		0.612	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		9	62	0	0	0	0	9	62				
OR8S1	341568	broad.mit.edu	37	12	48920205	48920205	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:48920205C>T	ENST00000310194.1	+	1	791	c.791C>T	c.(790-792)tCa>tTa	p.S264L	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	264						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)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						ATGCCAAACTCAGGTTCCCCC	0.498																																						uc010slu.1		NA																	0				skin(1)	1						c.(790-792)TCA>TTA		olfactory receptor, family 8, subfamily S,							98.0	94.0	96.0					12																	48920205		2203	4300	6503	SO:0001583	missense	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48920205C>T		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.791C>T	12.37:g.48920205C>T	ENSP00000310632:p.Ser264Leu						p.S264L	NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN			1	791	+			264			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000310194.1	37	c.791C>T	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434973	0.62955	.	.	ENSG00000197376	ENST00000310194	T	0.00216	8.53	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34555	N	0.003870	T	0.00412	0.0013	M	0.79805	2.47	0.24936	N	0.991886	B	0.33212	0.402	B	0.44044	0.439	T	0.25117	-1.0141	10	0.87932	D	0	-14.2646	15.5503	0.76145	0.0:1.0:0.0:0.0	.	264	Q8NH09	OR8S1_HUMAN	L	264	ENSP00000310632:S264L	ENSP00000310632:S264L	S	+	2	0	OR8S1	47206472	0.004000	0.15560	0.889000	0.34880	0.951000	0.60555	1.777000	0.38604	2.604000	0.88044	0.655000	0.94253	TCA		0.498	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			24	72	0	0	0	0	24	72				
CCNT1	904	broad.mit.edu	37	12	49088089	49088089	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:49088089G>A	ENST00000261900.3	-	9	1130	c.908C>T	c.(907-909)tCa>tTa	p.S303L		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	303					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GGTAGAAGTTGACATGCTCAT	0.493																																						uc001rse.1		NA																	0				ovary(3)|lung(1)|breast(1)|skin(1)	6						c.(907-909)TCA>TTA		cyclin T1							146.0	128.0	134.0					12																	49088089		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49088089G>A	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.908C>T	12.37:g.49088089G>A	ENSP00000261900:p.Ser303Leu					LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.S18L	p.S303L	NM_001240	NP_001231	O60563	CCNT1_HUMAN			9	1231	-			303					A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.908C>T	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769626	0.69992	.	.	ENSG00000129315	ENST00000261900	T	0.51071	0.72	5.49	5.49	0.81192	.	0.123692	0.56097	D	0.000030	T	0.26846	0.0657	N	0.08118	0	0.46131	D	0.998884	P	0.45176	0.852	B	0.34180	0.177	T	0.17561	-1.0365	10	0.44086	T	0.13	-10.066	16.2662	0.82581	0.0:0.0:1.0:0.0	.	303	O60563	CCNT1_HUMAN	L	303	ENSP00000261900:S303L	ENSP00000261900:S303L	S	-	2	0	CCNT1	47374356	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.465000	0.90383	2.587000	0.87381	0.491000	0.48974	TCA		0.493	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		31	61	0	0	0	0	31	61				
FKBP11	51303	broad.mit.edu	37	12	49315828	49315828	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:49315828C>G	ENST00000550765.1	-	6	943	c.545G>C	c.(544-546)aGa>aCa	p.R182T	CCDC65_ENST00000266984.5_Intron|FKBP11_ENST00000444214.2_Missense_Mutation_p.R80T|RP11-302B13.5_ENST00000398092.4_Intron|AC073610.5_ENST00000537495.1_3'UTR	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	182					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(3)|lung(1)	5						GACTTTGGGTCTATTGGCCTT	0.408																																						uc001rsp.2		NA																	0					0						c.(544-546)AGA>ACA		FK506 binding protein 11 isoform 1 precursor							91.0	93.0	92.0					12																	49315828		2203	4300	6503	SO:0001583	missense	51303				protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr12:49315828C>G	AF238079	CCDS8773.1, CCDS44870.1, CCDS44871.1	12q13.12	2008-08-04	2002-08-29			ENSG00000134285			18624	protein-coding gene	gene with protein product		610571	"""FK506 binding protein 11 (19 kDa)"""			12036304, 16596453	Standard	NM_016594		Approved	FKBP19	uc001rsp.3	Q9NYL4		ENST00000550765.1:c.545G>C	12.37:g.49315828C>G	ENSP00000449751:p.Arg182Thr					FKBP11_uc010sma.1_Missense_Mutation_p.R80T|FKBP11_uc001rsq.3_3'UTR	p.R182T	NM_016594	NP_057678	Q9NYL4	FKB11_HUMAN			6	664	-			182					B4DWB7	Missense_Mutation	SNP	ENST00000550765.1	37	c.545G>C	CCDS8773.1	.	.	.	.	.	.	.	.	.	.	C	9.868	1.198259	0.22037	.	.	ENSG00000134285	ENST00000444214;ENST00000550765	T;T	0.63255	-0.03;0.53	5.85	-1.58	0.08479	.	0.782162	0.12589	N	0.455754	T	0.35970	0.0950	N	0.08118	0	0.18873	N	0.999982	B	0.02656	0.0	B	0.01281	0.0	T	0.15464	-1.0436	10	0.28530	T	0.3	0.7586	8.8642	0.35276	0.0:0.4428:0.3854:0.1718	.	182	Q9NYL4	FKB11_HUMAN	T	80;182	ENSP00000412403:R80T;ENSP00000449751:R182T	ENSP00000412403:R80T	R	-	2	0	FKBP11	47602095	0.976000	0.34144	0.030000	0.17652	0.882000	0.50991	0.164000	0.16542	-0.500000	0.06614	0.655000	0.94253	AGA		0.408	FKBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408927.1	NM_016594		7	104	0	0	0	0	7	104				
PRPF40B	25766	broad.mit.edu	37	12	50035744	50035744	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:50035744C>T	ENST00000380281.1	+	18	1819	c.1755C>T	c.(1753-1755)gtC>gtT	p.V585V	FMNL3_ENST00000550668.1_5'Flank|PRPF40B_ENST00000261897.1_Silent_p.V572V|PRPF40B_ENST00000548825.2_Silent_p.V607V|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	585	FF 5.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TCGCCCACGTCATAAGCTTTG	0.597																																						uc001rur.1		NA																	0				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						c.(1753-1755)GTC>GTT		Huntingtin interacting protein C isoform 1							101.0	95.0	97.0					12																	50035744		2203	4300	6503	SO:0001819	synonymous_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50035744C>T	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1755C>T	12.37:g.50035744C>T						FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Silent_p.V607V|PRPF40B_uc001ruq.1_Silent_p.V572V|PRPF40B_uc001rus.1_Silent_p.V528V|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	p.V585V	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			18	1819	+			585					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	ENST00000380281.1	37	c.1755C>T																																																																																					0.597	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		31	78	0	0	0	0	31	78				
KRT5	3852	broad.mit.edu	37	12	52910942	52910942	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:52910942C>G	ENST00000252242.4	-	6	1557	c.1167G>C	c.(1165-1167)atG>atC	p.M389I		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	389	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCATCCGGTTCATCTCAGAGA	0.522																																						uc001san.2		NA																	0					0						c.(1165-1167)ATG>ATC		keratin 5							135.0	127.0	130.0					12																	52910942		2203	4300	6503	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52910942C>G		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1167G>C	12.37:g.52910942C>G	ENSP00000252242:p.Met389Ile					KRT5_uc009zmh.2_Missense_Mutation_p.M389I	p.M389I	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1330	-			389			Rod.|Coil 2.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.1167G>C	CCDS8830.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.44|14.44	2.534583|2.534583	0.45073|0.45073	.|.	.|.	ENSG00000186081|ENSG00000186081	ENST00000548409|ENST00000252242;ENST00000456000	.|D	.|0.95756	.|-3.8	5.63|5.63	4.74|4.74	0.60224|0.60224	.|Filament (1);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.92044|0.92044	0.7479|0.7479	L|L	0.35414|0.35414	1.06|1.06	0.37838|0.37838	D|D	0.928965|0.928965	.|B	.|0.11235	.|0.004	.|B	.|0.14023	.|0.01	D|D	0.89130|0.89130	0.3509|0.3509	5|10	.|0.33940	.|T	.|0.23	.|.	16.1704|16.1704	0.81808|0.81808	0.0:0.7343:0.2657:0.0|0.0:0.7343:0.2657:0.0	.|.	.|389	.|P13647	.|K2C5_HUMAN	Q|I	97|389;354	.|ENSP00000252242:M389I	.|ENSP00000252242:M389I	E|M	-|-	1|3	0|0	KRT5|KRT5	51197209|51197209	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.436000|0.436000	0.21526|0.21526	1.349000|1.349000	0.45751|0.45751	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.522	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			26	99	0	0	0	0	26	99				
OR6C6	283365	broad.mit.edu	37	12	55688558	55688558	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:55688558G>A	ENST00000358433.2	-	1	458	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGGGAAATATGATTAAGAATC	0.418																																						uc010sph.1		NA																	0				large_intestine(1)|skin(1)	2						c.(457-459)ATC>ATT		olfactory receptor, family 6, subfamily C,							82.0	77.0	79.0					12																	55688558		2203	4300	6503	SO:0001819	synonymous_variant	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688558G>A		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.459C>T	12.37:g.55688558G>A							p.I153I	NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN			1	459	-			153			Helical; Name=4; (Potential).			Silent	SNP	ENST00000358433.2	37	c.459C>T	CCDS31817.1																																																																																				0.418	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1			8	49	0	0	0	0	8	49				
STAT2	6773	broad.mit.edu	37	12	56740694	56740694	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:56740694C>A	ENST00000314128.4	-	20	1793	c.1770G>T	c.(1768-1770)ctG>ctT	p.L590L	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Silent_p.L586L			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	590	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGGTCTTCTTCAGCAGCCGGC	0.607																																						uc001slc.2		NA																	0				ovary(1)|lung(1)|kidney(1)	3						c.(1768-1770)CTG>CTT		signal transducer and activator of transcription							92.0	75.0	81.0					12																	56740694		2203	4300	6503	SO:0001819	synonymous_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56740694C>A	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1770G>T	12.37:g.56740694C>A						STAT2_uc001slb.2_Silent_p.L132L|STAT2_uc001sld.2_Silent_p.L586L	p.L590L	NM_005419	NP_005410	P52630	STAT2_HUMAN			20	1848	-			590			SH2.		B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	ENST00000314128.4	37	c.1770G>T	CCDS8917.1																																																																																				0.607	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		21	95	1	0	6.33e-15	6.86e-15	21	95				
NACA	4666	broad.mit.edu	37	12	57106570	57106570	+	Splice_Site	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57106570C>T	ENST00000454682.1	-	8	6503	c.6222G>A	c.(6220-6222)atG>atA	p.M2074I	NACA_ENST00000356769.3_Splice_Site_p.M211I|NACA_ENST00000550952.1_Splice_Site_p.M921I|NACA_ENST00000548563.1_Splice_Site_p.M132I|NACA_ENST00000546392.1_Splice_Site_p.M211I|NACA_ENST00000552540.1_Splice_Site_p.M211I|NACA_ENST00000551793.1_5'Flank|NACA_ENST00000393891.4_Splice_Site_p.M211I	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	2074	UBA.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAACACTTACCATAATCGCAT	0.403			T	BCL6	NHL																																	uc001slz.2		NA		Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				ovary(1)	1						c.(631-633)ATG>ATA		nascent polypeptide-associated complex alpha							241.0	217.0	225.0					12																	57106570		2203	4300	6503	SO:0001630	splice_region_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57106570C>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.6222+1G>A	12.37:g.57106570C>T						NACA_uc001sly.2_Missense_Mutation_p.M211I|NACA_uc009zoy.1_Missense_Mutation_p.M2074I|NACA_uc001smc.2_Missense_Mutation_p.M211I|NACA_uc001sma.2_Missense_Mutation_p.M921I|NACA_uc001smb.2_Missense_Mutation_p.M211I|NACA_uc010squ.1_RNA	p.M211I	NM_001113201	NP_001106672	Q13765	NACA_HUMAN			7	982	-			211			UBA.			Missense_Mutation	SNP	ENST00000454682.1	37	c.633G>A		.	.	.	.	.	.	.	.	.	.	C	22.3	4.266229	0.80358	.	.	ENSG00000196531	ENST00000550920;ENST00000454682;ENST00000550952;ENST00000356769;ENST00000552540;ENST00000393891;ENST00000548563;ENST00000546392	T;T;T;T;T;T;T	0.69926	0.19;-0.15;-0.44;0.19;0.19;0.19;0.19	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.82416	0.5032	M	0.77313	2.365	0.80722	D	1	P;D;D	0.69078	0.608;0.997;0.993	P;D;D	0.77004	0.512;0.989;0.968	D	0.83883	0.0280	10	0.62326	D	0.03	.	18.1119	0.89538	0.0:1.0:0.0:0.0	.	2074;921;211	E9PAV3;F8VU71;Q13765	.;.;NACA_HUMAN	I	209;2074;921;211;211;211;132;211	ENSP00000448039:M209I;ENSP00000403817:M2074I;ENSP00000448035:M921I;ENSP00000349212:M211I;ENSP00000447821:M211I;ENSP00000377469:M211I;ENSP00000446801:M211I	ENSP00000349212:M211I	M	-	3	0	NACA	55392837	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.606000	0.82863	2.653000	0.90120	0.557000	0.71058	ATG		0.403	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594	Missense_Mutation	17	79	0	0	0	0	17	79				
NACA	4666	broad.mit.edu	37	12	57106606	57106606	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57106606C>T	ENST00000454682.1	-	8	6467	c.6186G>A	c.(6184-6186)ctG>ctA	p.L2062L	NACA_ENST00000356769.3_Silent_p.L199L|NACA_ENST00000550952.1_Silent_p.L909L|NACA_ENST00000548563.1_Silent_p.L120L|NACA_ENST00000546392.1_Silent_p.L199L|NACA_ENST00000552540.1_Silent_p.L199L|NACA_ENST00000551793.1_5'Flank|NACA_ENST00000393891.4_Silent_p.L199L	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	2062	UBA.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGTTGTTCTTCAGGGCTCGGA	0.423			T	BCL6	NHL																																	uc001slz.2		NA		Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				ovary(1)	1						c.(595-597)CTG>CTA		nascent polypeptide-associated complex alpha							219.0	195.0	203.0					12																	57106606		2203	4300	6503	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57106606C>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.6186G>A	12.37:g.57106606C>T						NACA_uc001sly.2_Silent_p.L199L|NACA_uc009zoy.1_Silent_p.L2062L|NACA_uc001smc.2_Silent_p.L199L|NACA_uc001sma.2_Silent_p.L909L|NACA_uc001smb.2_Silent_p.L199L|NACA_uc010squ.1_RNA	p.L199L	NM_001113201	NP_001106672	Q13765	NACA_HUMAN			7	946	-			199			UBA.			Silent	SNP	ENST00000454682.1	37	c.597G>A																																																																																					0.423	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		15	84	0	0	0	0	15	84				
NACA	4666	broad.mit.edu	37	12	57106659	57106659	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57106659C>G	ENST00000454682.1	-	8	6414	c.6133G>C	c.(6133-6135)Gaa>Caa	p.E2045Q	NACA_ENST00000356769.3_Missense_Mutation_p.E182Q|NACA_ENST00000550952.1_Missense_Mutation_p.E892Q|NACA_ENST00000548563.1_Missense_Mutation_p.E103Q|NACA_ENST00000546392.1_Missense_Mutation_p.E182Q|NACA_ENST00000552540.1_Missense_Mutation_p.E182Q|NACA_ENST00000551793.1_5'Flank|NACA_ENST00000393891.4_Missense_Mutation_p.E182Q	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	2045	UBA.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ATGACCAATTCAATGTCCTTA	0.403			T	BCL6	NHL																																	uc001slz.2		NA		Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				ovary(1)	1						c.(544-546)GAA>CAA		nascent polypeptide-associated complex alpha							180.0	163.0	168.0					12																	57106659		2203	4300	6503	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57106659C>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.6133G>C	12.37:g.57106659C>G	ENSP00000403817:p.Glu2045Gln					NACA_uc001sly.2_Missense_Mutation_p.E182Q|NACA_uc009zoy.1_Missense_Mutation_p.E2045Q|NACA_uc001smc.2_Missense_Mutation_p.E182Q|NACA_uc001sma.2_Missense_Mutation_p.E892Q|NACA_uc001smb.2_Missense_Mutation_p.E182Q|NACA_uc010squ.1_RNA	p.E182Q	NM_001113201	NP_001106672	Q13765	NACA_HUMAN			7	893	-			182			UBA.			Missense_Mutation	SNP	ENST00000454682.1	37	c.544G>C		.	.	.	.	.	.	.	.	.	.	C	20.5	4.002925	0.74932	.	.	ENSG00000196531	ENST00000550920;ENST00000454682;ENST00000550952;ENST00000356769;ENST00000552540;ENST00000393891;ENST00000548563;ENST00000546392;ENST00000549259	T;T;T;T;T;T;T;T	0.59083	0.64;0.39;0.29;0.64;0.64;0.64;0.64;0.5	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.79592	0.4472	M	0.86178	2.8	0.80722	D	1	D;D;B	0.89917	0.979;1.0;0.331	D;D;B	0.77557	0.933;0.99;0.099	T	0.82450	-0.0451	10	0.87932	D	0	.	18.4096	0.90546	0.0:1.0:0.0:0.0	.	2045;892;182	E9PAV3;F8VU71;Q13765	.;.;NACA_HUMAN	Q	180;2045;892;182;182;182;103;182;182	ENSP00000448039:E180Q;ENSP00000403817:E2045Q;ENSP00000448035:E892Q;ENSP00000349212:E182Q;ENSP00000447821:E182Q;ENSP00000377469:E182Q;ENSP00000446801:E182Q;ENSP00000447133:E182Q	ENSP00000349212:E182Q	E	-	1	0	NACA	55392926	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.664000	0.83830	2.653000	0.90120	0.557000	0.71058	GAA		0.403	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		10	91	0	0	0	0	10	91				
NACA	4666	broad.mit.edu	37	12	57106861	57106861	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57106861C>G	ENST00000454682.1	-	7	6365	c.6084G>C	c.(6082-6084)gaG>gaC	p.E2028D	NACA_ENST00000356769.3_Missense_Mutation_p.E165D|NACA_ENST00000550952.1_Missense_Mutation_p.E875D|NACA_ENST00000548563.1_Missense_Mutation_p.E86D|NACA_ENST00000546392.1_Missense_Mutation_p.E165D|NACA_ENST00000552540.1_Missense_Mutation_p.E165D|NACA_ENST00000551793.1_5'Flank|NACA_ENST00000393891.4_Missense_Mutation_p.E165D	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	2028					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCTCTTCACTCTCCTCTTGTA	0.403			T	BCL6	NHL																																	uc001slz.2		NA		Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				ovary(1)	1						c.(493-495)GAG>GAC		nascent polypeptide-associated complex alpha							97.0	93.0	95.0					12																	57106861		2203	4300	6503	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57106861C>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.6084G>C	12.37:g.57106861C>G	ENSP00000403817:p.Glu2028Asp					NACA_uc001sly.2_Missense_Mutation_p.E165D|NACA_uc009zoy.1_Missense_Mutation_p.E2028D|NACA_uc001smc.2_Missense_Mutation_p.E165D|NACA_uc001sma.2_Missense_Mutation_p.E875D|NACA_uc001smb.2_Missense_Mutation_p.E165D|NACA_uc010squ.1_RNA	p.E165D	NM_001113201	NP_001106672	Q13765	NACA_HUMAN			6	844	-			165						Missense_Mutation	SNP	ENST00000454682.1	37	c.495G>C		.	.	.	.	.	.	.	.	.	.	C	13.69	2.311170	0.40895	.	.	ENSG00000196531	ENST00000550920;ENST00000454682;ENST00000550952;ENST00000356769;ENST00000552540;ENST00000393891;ENST00000548563;ENST00000546392;ENST00000549259	T;T;T;T;T;T;T;T	0.56103	0.71;0.57;0.48;0.71;0.71;0.71;0.71;0.71	5.31	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.59702	0.2213	M	0.66439	2.03	0.42227	D	0.991874	P;P;B	0.45126	0.548;0.851;0.376	P;P;B	0.52823	0.545;0.71;0.093	T	0.60627	-0.7226	10	0.45353	T	0.12	.	9.5777	0.39468	0.0:0.7527:0.0:0.2473	.	2028;875;165	E9PAV3;F8VU71;Q13765	.;.;NACA_HUMAN	D	163;2028;875;165;165;165;86;165;165	ENSP00000448039:E163D;ENSP00000403817:E2028D;ENSP00000448035:E875D;ENSP00000349212:E165D;ENSP00000447821:E165D;ENSP00000377469:E165D;ENSP00000446801:E165D;ENSP00000447133:E165D	ENSP00000349212:E165D	E	-	3	2	NACA	55393128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.512000	0.45485	1.244000	0.43870	0.557000	0.71058	GAG		0.403	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		7	41	0	0	0	0	7	41				
NACA	4666	broad.mit.edu	37	12	57108149	57108149	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57108149C>A	ENST00000454682.1	-	5	6101	c.5820G>T	c.(5818-5820)cgG>cgT	p.R1940R	NACA_ENST00000356769.3_Silent_p.R77R|NACA_ENST00000550952.1_Silent_p.R787R|NACA_ENST00000548563.1_5'UTR|NACA_ENST00000546392.1_Silent_p.R77R|NACA_ENST00000552540.1_Silent_p.R77R|NACA_ENST00000551793.1_5'UTR|NACA_ENST00000393891.4_Silent_p.R77R	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1940	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.|Required for DNA-binding. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ATCTTACCTTCCGTGCCTTCT	0.398			T	BCL6	NHL																																	uc001slz.2		NA		Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				ovary(1)	1						c.(229-231)CGG>CGT		nascent polypeptide-associated complex alpha							144.0	127.0	132.0					12																	57108149		2203	4300	6503	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57108149C>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5820G>T	12.37:g.57108149C>A						NACA_uc001sly.2_Silent_p.R77R|NACA_uc009zoy.1_Silent_p.R1940R|NACA_uc001smc.2_Silent_p.R77R|NACA_uc001sma.2_Silent_p.R787R|NACA_uc001smb.2_Silent_p.R77R|NACA_uc010squ.1_Intron	p.R77R	NM_001113201	NP_001106672	Q13765	NACA_HUMAN			4	580	-			77			Required for DNA-binding (By similarity).|NAC-A/B.			Silent	SNP	ENST00000454682.1	37	c.231G>T																																																																																					0.398	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		10	47	1	0	4.69e-08	5e-08	10	47				
NAB2	4665	broad.mit.edu	37	12	57484986	57484986	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57484986C>A	ENST00000300131.3	+	2	540	c.162C>A	c.(160-162)ctC>ctA	p.L54L	NAB2_ENST00000554718.1_Intron|NAB2_ENST00000342556.6_Silent_p.L54L|NAB2_ENST00000357680.4_Silent_p.L54L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	54	NCD1.				cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCGCCAACCTCCTTTCCTACT	0.632																																						uc001smz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(160-162)CTC>CTA		NGFI-A binding protein 2							75.0	80.0	79.0					12																	57484986		2203	4300	6503	SO:0001819	synonymous_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57484986C>A	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.162C>A	12.37:g.57484986C>A							p.L54L	NM_005967	NP_005958	Q15742	NAB2_HUMAN			2	540	+			54			NCD1.		B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	c.162C>A	CCDS8930.1																																																																																				0.632	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		25	102	1	0	7.88e-20	8.6e-20	25	102				
GLI1	2735	broad.mit.edu	37	12	57857788	57857788	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57857788C>G	ENST00000228682.2	+	3	198	c.107C>G	c.(106-108)tCt>tGt	p.S36C	GLI1_ENST00000546141.1_Intron|GLI1_ENST00000543426.1_Intron	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	36					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTAGGACTGTCTGGCCCGCCC	0.552																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2		NA																	0				skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(106-108)TCT>TGT		GLI family zinc finger 1 isoform 1							176.0	181.0	179.0					12																	57857788		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57857788C>G		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.107C>G	12.37:g.57857788C>G	ENSP00000228682:p.Ser36Cys					GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_Intron|GLI1_uc009zpr.1_Intron	p.S36C	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		3	185	+			36					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.107C>G	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398702	0.62177	.	.	ENSG00000111087	ENST00000228682;ENST00000528432	T	0.14640	2.49	4.28	4.28	0.50868	.	0.612731	0.14651	N	0.306583	T	0.13243	0.0321	L	0.42245	1.32	0.80722	D	1	P	0.39624	0.681	B	0.35971	0.215	T	0.05099	-1.0906	10	0.66056	D	0.02	.	12.4233	0.55532	0.0:1.0:0.0:0.0	.	36	P08151	GLI1_HUMAN	C	36	ENSP00000228682:S36C	ENSP00000228682:S36C	S	+	2	0	GLI1	56144055	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.277000	0.43417	2.380000	0.81148	0.555000	0.69702	TCT		0.552	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		42	204	0	0	0	0	42	204				
OS9	10956	broad.mit.edu	37	12	58112070	58112070	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:58112070G>C	ENST00000315970.7	+	11	1317	c.1276G>C	c.(1276-1278)Gat>Cat	p.D426H	OS9_ENST00000439210.2_Missense_Mutation_p.D367H|OS9_ENST00000552285.1_Missense_Mutation_p.D426H|OS9_ENST00000435406.2_Missense_Mutation_p.D374H|OS9_ENST00000413095.2_Missense_Mutation_p.D220H|OS9_ENST00000257966.8_Missense_Mutation_p.D427H|OS9_ENST00000389146.6_Missense_Mutation_p.D426H|OS9_ENST00000551035.1_Missense_Mutation_p.D394H|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389142.5_Missense_Mutation_p.D426H	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	426	Asp/Glu-rich (acidic).				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			tgaggatgaagatgaggatga	0.542																																						uc001spj.2		NA																	0				ovary(1)	1						c.(1276-1278)GAT>CAT		osteosarcoma amplified 9, endoplasmic reticulum							238.0	201.0	214.0					12																	58112070		2203	4300	6503	SO:0001583	missense	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58112070G>C	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1276G>C	12.37:g.58112070G>C	ENSP00000318165:p.Asp426His					OS9_uc010srx.1_Missense_Mutation_p.D220H|OS9_uc001spk.2_Missense_Mutation_p.D426H|OS9_uc001spl.2_Missense_Mutation_p.D426H|OS9_uc001spm.2_Missense_Mutation_p.D426H|OS9_uc001spn.2_Missense_Mutation_p.D427H|OS9_uc010sry.1_Missense_Mutation_p.D394H|OS9_uc010srz.1_Missense_Mutation_p.D367H	p.D426H	NM_006812	NP_006803	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		11	1335	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		426			Asp/Glu-rich (acidic).		A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	c.1276G>C	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097468	0.76870	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T;T	0.37058	1.62;1.61;1.81;1.84;1.22;1.43;1.55;1.43;1.84	5.54	4.65	0.58169	.	0.641358	0.16206	N	0.224709	T	0.47078	0.1426	L	0.29908	0.895	0.44927	D	0.997943	D;D;D;D;D;P;P;P	0.76494	0.966;0.98;0.999;0.966;0.966;0.943;0.71;0.846	P;P;D;P;P;P;B;P	0.71184	0.688;0.835;0.972;0.751;0.688;0.569;0.352;0.607	T	0.41179	-0.9523	10	0.51188	T	0.08	.	13.4414	0.61114	0.076:0.0:0.924:0.0	.	367;394;220;427;426;426;426;426	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	H	426;426;367;426;220;394;427;374;426	ENSP00000450010:D426H;ENSP00000318165:D426H;ENSP00000407360:D367H;ENSP00000373798:D426H;ENSP00000413112:D220H;ENSP00000447866:D394H;ENSP00000257966:D427H;ENSP00000389632:D374H;ENSP00000373794:D426H	ENSP00000257966:D427H	D	+	1	0	OS9	56398337	0.999000	0.42202	0.854000	0.33618	0.956000	0.61745	4.929000	0.63455	1.578000	0.49821	0.655000	0.94253	GAT		0.542	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		6	74	0	0	0	0	6	74				
BEST3	144453	broad.mit.edu	37	12	70049339	70049339	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:70049339T>A	ENST00000330891.5	-	10	1581	c.1355A>T	c.(1354-1356)aAa>aTa	p.K452I	BEST3_ENST00000553096.1_Missense_Mutation_p.K346I|BEST3_ENST00000488961.1_Missense_Mutation_p.K239I|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	452					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GAAGCAGGATTTCTTCCAGGT	0.592																																						uc001svg.2		NA																	0					0						c.(1354-1356)AAA>ATA		vitelliform macular dystrophy 2-like 3 isoform							81.0	85.0	84.0					12																	70049339		1951	4138	6089	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049339T>A	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1355A>T	12.37:g.70049339T>A	ENSP00000332413:p.Lys452Ile					BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.K239I|BEST3_uc010stm.1_Missense_Mutation_p.K346I	p.K452I	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1582	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		452			Cytoplasmic (Potential).		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.1355A>T	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	T	9.895	1.205195	0.22205	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.98249	-4.5;-4.82;-4.79	5.37	2.94	0.34122	.	0.800221	0.11011	N	0.609497	D	0.95354	0.8492	L	0.40543	1.245	0.30558	N	0.764761	P;P	0.41748	0.641;0.761	B;B	0.35413	0.133;0.202	D	0.90507	0.4478	10	0.40728	T	0.16	-0.2576	10.7871	0.46411	0.0:0.0:0.3345:0.6655	.	452;239	Q8N1M1;B5MDI8	BEST3_HUMAN;.	I	239;452;346	ENSP00000433213:K239I;ENSP00000332413:K452I;ENSP00000449548:K346I	ENSP00000332413:K452I	K	-	2	0	BEST3	68335606	0.872000	0.30054	0.010000	0.14722	0.048000	0.14542	1.170000	0.31883	0.314000	0.23086	0.383000	0.25322	AAA		0.592	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		5	108	0	0	0	0	5	108				
BEST3	144453	broad.mit.edu	37	12	70049452	70049452	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:70049452C>G	ENST00000330891.5	-	10	1468	c.1242G>C	c.(1240-1242)agG>agC	p.R414S	BEST3_ENST00000553096.1_Missense_Mutation_p.R308S|BEST3_ENST00000488961.1_Missense_Mutation_p.R201S|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	414					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TTGTCTGCCTCCTGTAGCTTC	0.562																																						uc001svg.2		NA																	0					0						c.(1240-1242)AGG>AGC		vitelliform macular dystrophy 2-like 3 isoform							107.0	115.0	112.0					12																	70049452		2077	4217	6294	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049452C>G	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1242G>C	12.37:g.70049452C>G	ENSP00000332413:p.Arg414Ser					BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.R201S|BEST3_uc010stm.1_Missense_Mutation_p.R308S	p.R414S	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1469	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		414			Cytoplasmic (Potential).		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.1242G>C	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	C	0.878	-0.729709	0.03135	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97772	-4.17;-4.53;-4.49	5.63	-0.688	0.11317	.	0.600024	0.16873	N	0.196038	D	0.88385	0.6422	N	0.03608	-0.345	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.80341	-0.1423	10	0.05620	T	0.96	-0.0684	6.8705	0.24119	0.0:0.3346:0.3325:0.333	.	414;201	Q8N1M1;B5MDI8	BEST3_HUMAN;.	S	201;414;308	ENSP00000433213:R201S;ENSP00000332413:R414S;ENSP00000449548:R308S	ENSP00000332413:R414S	R	-	3	2	BEST3	68335719	0.000000	0.05858	0.020000	0.16555	0.014000	0.08584	-0.522000	0.06237	-0.445000	0.07159	-0.797000	0.03246	AGG		0.562	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		25	114	0	0	0	0	25	114				
LRRIQ1	84125	broad.mit.edu	37	12	85450679	85450679	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:85450679C>G	ENST00000393217.2	+	8	2169	c.2108C>G	c.(2107-2109)tCt>tGt	p.S703C		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	703										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAGTCAACTCTCTTAAATCT	0.373																																						uc001tac.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2107-2109)TCT>TGT		leucine-rich repeats and IQ motif containing 1							107.0	114.0	112.0					12																	85450679		2203	4300	6503	SO:0001583	missense	84125							g.chr12:85450679C>G	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2108C>G	12.37:g.85450679C>G	ENSP00000376910:p.Ser703Cys					LRRIQ1_uc001tab.1_Missense_Mutation_p.S703C|LRRIQ1_uc001taa.1_Missense_Mutation_p.S678C	p.S703C	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	2219	+			703					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.2108C>G	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713693	0.48517	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.55930	0.49	4.74	4.74	0.60224	.	0.166710	0.28560	N	0.014918	T	0.58308	0.2113	L	0.36672	1.1	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.68192	0.956;0.956	T	0.50013	-0.8877	10	0.54805	T	0.06	.	9.0421	0.36325	0.0:0.8915:0.0:0.1085	.	703;678	Q96JM4;C9JI57	LRIQ1_HUMAN;.	C	703;678;703	ENSP00000376910:S703C	ENSP00000256007:S703C	S	+	2	0	LRRIQ1	83974810	0.000000	0.05858	0.312000	0.25196	0.114000	0.19823	0.677000	0.25262	2.563000	0.86464	0.591000	0.81541	TCT		0.373	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		46	119	0	0	0	0	46	119				
LRRIQ1	84125	broad.mit.edu	37	12	85500377	85500377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:85500377C>T	ENST00000393217.2	+	15	3422	c.3361C>T	c.(3361-3363)Caa>Taa	p.Q1121*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1121	LRRCT.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCCACTTCTTCAAGAAACAAA	0.333																																						uc001tac.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3361-3363)CAA>TAA		leucine-rich repeats and IQ motif containing 1							114.0	113.0	114.0					12																	85500377		2203	4299	6502	SO:0001587	stop_gained	84125							g.chr12:85500377C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3361C>T	12.37:g.85500377C>T	ENSP00000376910:p.Gln1121*					LRRIQ1_uc001tab.1_Nonsense_Mutation_p.Q1121*	p.Q1121*	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	15	3472	+			1121			LRRCT.		Q567P4|Q9BS17|Q9HA36	Nonsense_Mutation	SNP	ENST00000393217.2	37	c.3361C>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	40	8.392334	0.98791	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.3372	0.90293	0.0:1.0:0.0:0.0	.	.	.	.	X	1121;1096;1121	.	ENSP00000256007:Q1121X	Q	+	1	0	LRRIQ1	84024508	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	3.016000	0.49607	2.607000	0.88179	0.557000	0.71058	CAA		0.333	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		11	61	0	0	0	0	11	61				
EPYC	1833	broad.mit.edu	37	12	91358091	91358091	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:91358091G>A	ENST00000261172.3	-	7	903	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	271					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TGCATTTCCAGAATGTTGTTA	0.338																																						uc001tbk.2		NA																	0				skin(1)	1						c.(811-813)CTG>TTG		dermatan sulfate proteoglycan 3 precursor							77.0	72.0	74.0					12																	91358091		2203	4300	6503	SO:0001819	synonymous_variant	1833				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	g.chr12:91358091G>A	AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.811C>T	12.37:g.91358091G>A							p.L271L	NM_004950	NP_004941	Q99645	EPYC_HUMAN			7	904	-			271			LRR 5.		A8K3M7|Q8NEJ5	Silent	SNP	ENST00000261172.3	37	c.811C>T	CCDS31870.1																																																																																				0.338	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	NM_004950		5	22	0	0	0	0	5	22				
PLEKHG7	440107	broad.mit.edu	37	12	93163911	93163911	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:93163911G>C	ENST00000344636.3	+	12	1264	c.1080G>C	c.(1078-1080)aaG>aaC	p.K360N		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	360							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						GCTTTACCAAGAGTCAGGAAA	0.333																																						uc001tcj.2		NA																	0				ovary(1)	1						c.(1078-1080)AAG>AAC		pleckstrin homology domain containing, family G							100.0	102.0	101.0					12																	93163911		2203	4299	6502	SO:0001583	missense	440107				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr12:93163911G>C	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"""Pleckstrin homology (PH) domain containing"""	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.1080G>C	12.37:g.93163911G>C	ENSP00000344961:p.Lys360Asn						p.K360N	NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN			12	1310	+			360					B2RNR7	Missense_Mutation	SNP	ENST00000344636.3	37	c.1080G>C	CCDS31873.1	.	.	.	.	.	.	.	.	.	.	G	9.487	1.099557	0.20552	.	.	ENSG00000187510	ENST00000344636	T	0.34859	1.34	6.07	4.25	0.50352	Pleckstrin homology-type (1);	0.293635	0.35870	N	0.002932	T	0.32615	0.0835	L	0.61218	1.895	0.09310	N	0.999996	B	0.32245	0.361	B	0.29440	0.102	T	0.24440	-1.0160	10	0.40728	T	0.16	-20.5279	9.3343	0.38040	0.2688:0.0:0.7312:0.0	.	360	Q6ZR37	PKHG7_HUMAN	N	360	ENSP00000344961:K360N	ENSP00000344961:K360N	K	+	3	2	PLEKHG7	91688042	0.143000	0.22626	0.762000	0.31397	0.199000	0.23934	0.431000	0.21444	1.571000	0.49722	0.655000	0.94253	AAG		0.333	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		14	37	0	0	0	0	14	37				
NUP37	79023	broad.mit.edu	37	12	102471251	102471251	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:102471251G>A	ENST00000552283.1	-	7	710	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	RP11-554E23.4_ENST00000552707.1_RNA|NUP37_ENST00000251074.1_Missense_Mutation_p.R191W|NUP37_ENST00000543021.1_5'Flank			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	191					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TCATAAAACCGGATTGTTCCA	0.368																																						uc001tjc.2		NA																	0				ovary(1)	1						c.(571-573)CGG>TGG		nucleoporin 37kDa							125.0	131.0	129.0					12																	102471251		2203	4300	6503	SO:0001583	missense	79023				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr12:102471251G>A	AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.571C>T	12.37:g.102471251G>A	ENSP00000448054:p.Arg191Trp					NUP37_uc009zub.1_Missense_Mutation_p.R191W	p.R191W	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN			6	636	-			191			WD 3.		Q9H644	Missense_Mutation	SNP	ENST00000552283.1	37	c.571C>T	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387627	0.82902	.	.	ENSG00000075188	ENST00000552283;ENST00000251074	T;T	0.34275	1.37;1.37	6.02	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61615	0.2361	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66468	-0.5916	10	0.87932	D	0	-14.5	15.2598	0.73613	0.0:0.0:0.7292:0.2708	.	191	Q8NFH4	NUP37_HUMAN	W	191	ENSP00000448054:R191W;ENSP00000251074:R191W	ENSP00000251074:R191W	R	-	1	2	NUP37	100995381	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.120000	0.57897	2.865000	0.98341	0.655000	0.94253	CGG		0.368	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		20	62	0	0	0	0	20	62				
STAB2	55576	broad.mit.edu	37	12	104129353	104129353	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:104129353G>A	ENST00000388887.2	+	52	5749	c.5545G>A	c.(5545-5547)Gac>Aac	p.D1849N		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGCTGGCAGGGACATCGTGAG	0.507																																						uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(5545-5547)GAC>AAC		stabilin 2 precursor							66.0	57.0	60.0					12																	104129353		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104129353G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5545G>A	12.37:g.104129353G>A	ENSP00000373539:p.Asp1849Asn					STAB2_uc009zug.2_RNA	p.D1849N	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			52	5731	+			1849			Extracellular (Potential).|FAS1 6.			Missense_Mutation	SNP	ENST00000388887.2	37	c.5545G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.592812	0.00864	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.90261	-2.64	4.93	1.43	0.22495	FAS1 domain (5);	0.908637	0.09466	N	0.798258	T	0.78941	0.4363	N	0.16307	0.4	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.62868	-0.6763	10	0.17832	T	0.49	.	2.9976	0.06003	0.3212:0.2285:0.4503:0.0	.	1849	Q8WWQ8	STAB2_HUMAN	N	1849;536	ENSP00000373539:D1849N	ENSP00000258495:D536N	D	+	1	0	STAB2	102653483	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	-0.071000	0.11505	0.559000	0.29153	0.455000	0.32223	GAC		0.507	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			3	10	0	0	0	0	3	10				
SVOP	55530	broad.mit.edu	37	12	109306418	109306418	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:109306418C>A	ENST00000299134.5	-	14	1343	c.1344G>T	c.(1342-1344)aaG>aaT	p.K448N	RP11-423G4.7_ENST00000569754.1_lincRNA	NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)			breast(2)|lung(4)	6						AGTCCTCGGCCTTTGGTCTCA	0.607																																						uc010sxh.1		NA																	0					0						c.(1540-1542)GGC>TGC		SV2 related protein							75.0	86.0	82.0					12																	109306418		2150	4255	6405	SO:0001583	missense	55530					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity	g.chr12:109306418C>A	BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.1344G>T	12.37:g.109306418C>A	ENSP00000299134:p.Lys448Asn						p.G514C	NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN			15	1712	-			514			Cytoplasmic (Potential).		Q9NPW5	Missense_Mutation	SNP	ENST00000299134.5	37	c.1540G>T		.	.	.	.	.	.	.	.	.	.	C	28.1	4.894880	0.91962	.	.	ENSG00000166111	ENST00000299134	T	0.61980	0.06	5.61	5.61	0.85477	.	.	.	.	.	D	0.84593	0.5506	M	0.92784	3.345	.	.	.	.	.	.	.	.	.	D	0.87836	0.2648	6	0.72032	D	0.01	-20.6874	18.6136	0.91295	0.0:1.0:0.0:0.0	.	.	.	.	N	448	ENSP00000299134:K448N	ENSP00000299134:K448N	K	-	3	2	SVOP	107830547	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.367000	0.79558	2.633000	0.89246	0.563000	0.77884	AAG		0.607	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding	OTTHUMT00000403982.1	NM_018711		44	79	1	0	6.48e-29	7.09e-29	44	79				
CIT	11113	broad.mit.edu	37	12	120241085	120241085	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:120241085G>A	ENST00000261833.7	-	10	1272	c.1220C>T	c.(1219-1221)tCa>tTa	p.S407L	CIT_ENST00000392521.2_Missense_Mutation_p.S407L	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	407	AGC-kinase C-terminal.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CGAGAAGCCTGAGGGGCTCAG	0.493																																						uc001txi.1		NA																	0				ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(1219-1221)TCA>TTA		citron							92.0	92.0	92.0					12																	120241085		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120241085G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1220C>T	12.37:g.120241085G>A	ENSP00000261833:p.Ser407Leu					CIT_uc001txh.1_5'UTR|CIT_uc001txj.1_Missense_Mutation_p.S407L	p.S407L	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	10	1273	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	407			AGC-kinase C-terminal.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.1220C>T	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.00|17.00	3.276771|3.276771	0.59758|0.59758	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.40756	.|1.02;1.02	5.43|5.43	4.49|4.49	0.54785|0.54785	.|Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	.|0.154748	.|0.40818	.|N	.|0.001016	.|T	.|0.34978	.|0.0916	L|L	0.28400|0.28400	0.85|0.85	0.43218|0.43218	D|D	0.995098|0.995098	.|B;B	.|0.09022	.|0.002;0.002	.|B;B	.|0.12156	.|0.007;0.003	.|T	.|0.14531	.|-1.0469	.|10	.|0.48119	.|T	.|0.1	.|.	17.8095|17.8095	0.88611|0.88611	0.0:0.132:0.868:0.0|0.0:0.132:0.868:0.0	.|.	.|407;407	.|Q2M5E1;O14578	.|.;CTRO_HUMAN	X|L	35|407	.|ENSP00000376306:S407L;ENSP00000261833:S407L	.|ENSP00000261833:S407L	Q|S	-|-	1|2	0|0	CIT|CIT	118725468|118725468	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	5.867000|5.867000	0.69597|0.69597	2.546000|2.546000	0.85860|0.85860	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.493	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		34	85	0	0	0	0	34	85				
RPLP0	6175	broad.mit.edu	37	12	120635242	120635242	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:120635242G>C	ENST00000551150.1	-	6	990	c.675C>G	c.(673-675)gtC>gtG	p.V225V	RPLP0_ENST00000313104.5_Silent_p.V163V|RPLP0_ENST00000546989.1_Silent_p.V189V|GCN1L1_ENST00000300648.6_5'Flank|RPLP0_ENST00000550296.1_5'Flank|RPLP0_ENST00000228306.4_Silent_p.V225V|RPLP0_ENST00000392514.4_Silent_p.V225V|RPLP0_ENST00000552292.1_Silent_p.V15V			P05388	RLA0_HUMAN	ribosomal protein, large, P0	225					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTGCAGACAGACACTGGCAA	0.488																																						uc001txp.2		NA																	0				ovary(1)	1						c.(673-675)GTC>GTG		ribosomal protein P0							47.0	40.0	43.0					12																	120635242		2203	4300	6503	SO:0001819	synonymous_variant	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120635242G>C	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.675C>G	12.37:g.120635242G>C						GCN1L1_uc001txo.2_5'Flank|RPLP0_uc001txq.2_Silent_p.V225V|RPLP0_uc001txr.2_Silent_p.V163V	p.V225V	NM_053275	NP_444505	P05388	RLA0_HUMAN			7	912	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		225					Q3B7A4|Q9BVK4	Silent	SNP	ENST00000551150.1	37	c.675C>G	CCDS9193.1																																																																																				0.488	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		16	31	0	0	0	0	16	31				
VPS33A	65082	broad.mit.edu	37	12	122750886	122750886	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:122750886G>T	ENST00000267199.4	-	1	182	c.70C>A	c.(70-72)Cgc>Agc	p.R24S	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.R24S|VPS33A_ENST00000451053.2_Missense_Mutation_p.R24S|VPS33A_ENST00000542310.1_5'Flank	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	24					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AGGAACTCGCGCAGCTCGCGA	0.667																																						uc001ucd.2		NA																	0				skin(1)	1						c.(70-72)CGC>AGC		vacuolar protein sorting 33A							67.0	59.0	62.0					12																	122750886		2203	4300	6503	SO:0001583	missense	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122750886G>T	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.70C>A	12.37:g.122750886G>T	ENSP00000267199:p.Arg24Ser					VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Missense_Mutation_p.R24S	p.R24S	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	1	183	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		24					Q547V4|Q9H5Q0	Missense_Mutation	SNP	ENST00000267199.4	37	c.70C>A	CCDS9231.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649415	0.67358	.	.	ENSG00000139719	ENST00000267199;ENST00000451053	T;T	0.28666	1.6;1.6	5.4	4.5	0.54988	.	0.067707	0.64402	D	0.000003	T	0.34658	0.0905	N	0.16478	0.41	0.58432	D	0.999994	D;B	0.69078	0.997;0.033	P;B	0.58172	0.834;0.016	T	0.27739	-1.0065	10	0.54805	T	0.06	-13.8385	15.5743	0.76362	0.0:0.0:0.8611:0.1389	.	24;24	F5H6Y0;Q96AX1	.;VP33A_HUMAN	S	24	ENSP00000267199:R24S;ENSP00000442951:R24S	ENSP00000446319:R24S	R	-	1	0	VPS33A	121316839	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.637000	0.74304	1.488000	0.48433	0.655000	0.94253	CGC		0.667	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			10	41	1	0	4.69e-08	5e-08	10	41				
ZCCHC8	55596	broad.mit.edu	37	12	122958596	122958596	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:122958596C>T	ENST00000336229.4	-	14	1702	c.1572G>A	c.(1570-1572)caG>caA	p.Q524Q	ZCCHC8_ENST00000538116.1_Silent_p.Q135Q|ZCCHC8_ENST00000536306.1_Silent_p.Q286Q|ZCCHC8_ENST00000543897.1_Silent_p.Q286Q	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	524					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		AGATCCGCCTCTGCTGTTCTT	0.572																																						uc001ucn.2		NA																	0					0						c.(1570-1572)CAG>CAA		zinc finger, CCHC domain containing 8							117.0	125.0	122.0					12																	122958596		2159	4277	6436	SO:0001819	synonymous_variant	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122958596C>T	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1572G>A	12.37:g.122958596C>T						ZCCHC8_uc001ucl.2_Silent_p.Q135Q|ZCCHC8_uc001ucm.2_Silent_p.Q286Q|ZCCHC8_uc009zxp.2_Silent_p.Q286Q|ZCCHC8_uc009zxq.2_Silent_p.Q286Q	p.Q524Q	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	14	1703	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		524			Potential.		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Silent	SNP	ENST00000336229.4	37	c.1572G>A																																																																																					0.572	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		51	107	0	0	0	0	51	107				
DNAH10	196385	broad.mit.edu	37	12	124298073	124298073	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:124298073C>G	ENST00000409039.3	+	19	3178	c.3153C>G	c.(3151-3153)ctC>ctG	p.L1051L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1051	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACTTCAGCTCAGGCATCTGG	0.438																																						uc001uft.3		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3151-3153)CTC>CTG		dynein, axonemal, heavy chain 10							63.0	58.0	59.0					12																	124298073		2203	4300	6503	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124298073C>G	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3153C>G	12.37:g.124298073C>G						DNAH10_uc010tav.1_Silent_p.L593L|DNAH10_uc010taw.1_Silent_p.L536L	p.L1051L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	19	3178	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1051			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.3153C>G	CCDS9255.2																																																																																				0.438	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			11	36	0	0	0	0	11	36				
POLE	5426	broad.mit.edu	37	12	133248806	133248806	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:133248806C>T	ENST00000320574.5	-	16	1832	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	POLE_ENST00000535270.1_Missense_Mutation_p.E570K	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	597					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GTTACCTCTTCAAAGTTGGTG	0.557								DNA polymerases (catalytic subunits)																														uc001uks.1		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(1789-1791)GAA>AAA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							149.0	112.0	124.0					12																	133248806		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133248806C>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1789G>A	12.37:g.133248806C>T	ENSP00000322570:p.Glu597Lys					POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.E570K	p.E597K	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	16	1833	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	597					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.1789G>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687972	0.29962	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.15017	4.1;4.1;4.11;2.46	5.41	3.53	0.40419	.	0.284345	0.39834	N	0.001244	T	0.25382	0.0617	M	0.74258	2.255	0.25950	N	0.982763	B;B	0.25206	0.12;0.007	B;B	0.28305	0.088;0.017	T	0.19128	-1.0315	10	0.66056	D	0.02	.	15.7976	0.78424	0.0:0.2618:0.7382:0.0	.	570;597	F5H1D6;Q07864	.;DPOE1_HUMAN	K	597;608;570;377;532	ENSP00000322570:E597K;ENSP00000406383:E608K;ENSP00000445753:E570K;ENSP00000442519:E377K	ENSP00000322570:E597K	E	-	1	0	POLE	131758879	1.000000	0.71417	0.976000	0.42696	0.064000	0.16182	4.293000	0.59037	0.632000	0.30432	-0.802000	0.03209	GAA		0.557	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		12	64	0	0	0	0	12	64				
ZNF10	7556	broad.mit.edu	37	12	133732691	133732691	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:133732691C>T	ENST00000248211.6	+	5	1081	c.859C>T	c.(859-861)Cat>Tat	p.H287Y	ZNF10_ENST00000426665.2_Missense_Mutation_p.H287Y|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Missense_Mutation_p.H153Y	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	287					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)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TCAGCTTATTCATACTGGAGA	0.418																																						uc009zzb.2		NA																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(859-861)CAT>TAT		zinc finger protein 10							66.0	73.0	71.0					12																	133732691		2203	4299	6502	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133732691C>T	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.859C>T	12.37:g.133732691C>T	ENSP00000248211:p.His287Tyr					ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.H287Y	p.H287Y	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	1306	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	287			C2H2-type 2.		B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.859C>T	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941188	0.73557	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000402932	T;T;T	0.67523	-0.27;-0.27;-0.27	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40640	N	0.001044	D	0.84674	0.5524	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88482	0.3069	9	.	.	.	.	15.2497	0.73536	0.0:1.0:0.0:0.0	.	287	P21506	ZNF10_HUMAN	Y	287;287;153	ENSP00000248211:H287Y;ENSP00000393814:H287Y;ENSP00000384893:H153Y	.	H	+	1	0	ZNF10	132242764	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.302000	0.65733	2.199000	0.70637	0.591000	0.81541	CAT		0.418	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		16	39	0	0	0	0	16	39				
RNF17	56163	broad.mit.edu	37	13	25348972	25348972	+	Silent	SNP	A	A	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:25348972A>C	ENST00000255324.5	+	3	299	c.247A>C	c.(247-249)Aga>Cga	p.R83R	RNF17_ENST00000255325.6_Silent_p.R83R|RNF17_ENST00000381921.1_Silent_p.R83R|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	83					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)		TGTAAATACTAGACAACGCTA	0.348																																						uc001upr.2		NA																	0				ovary(1)|skin(1)	2						c.(247-249)AGA>CGA		ring finger protein 17							99.0	96.0	97.0					13																	25348972		2203	4300	6503	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25348972A>C	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.247A>C	13.37:g.25348972A>C						RNF17_uc010tdd.1_Intron|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.R83R|RNF17_uc001ups.2_Silent_p.R22R|RNF17_uc001upq.1_Silent_p.R83R	p.R83R	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	3	288	+		Lung SC(185;0.0225)|Breast(139;0.077)	83					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.247A>C	CCDS9308.2																																																																																				0.348	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		16	27	0	0	0	0	16	27				
USPL1	10208	broad.mit.edu	37	13	31232715	31232715	+	Missense_Mutation	SNP	C	C	T	rs554838153		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:31232715C>T	ENST00000255304.4	+	9	2843	c.2501C>T	c.(2500-2502)tCg>tTg	p.S834L		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	834					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GGCCCTCCATCGTCTAATGGC	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		18598	0.0		0.001	False		,,,				2504	0.0				Ovarian(60;318 1180 1554 28110 31601)	uc001utc.2		NA																	0				pancreas(2)|skin(1)	3						c.(2500-2502)TCG>TTG		ubiquitin specific peptidase like 1							75.0	73.0	74.0					13																	31232715		2203	4300	6503	SO:0001583	missense	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31232715C>T	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2501C>T	13.37:g.31232715C>T	ENSP00000255304:p.Ser834Leu					USPL1_uc001utd.2_Missense_Mutation_p.S505L|USPL1_uc001ute.1_Missense_Mutation_p.S505L	p.S834L	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	9	2933	+		Lung SC(185;0.0257)|Breast(139;0.203)	834					Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	c.2501C>T	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	C	7.098	0.573537	0.13623	.	.	ENSG00000132952	ENST00000255304	T	0.15256	2.44	5.49	-3.34	0.04943	.	5.322970	0.00166	N	0.000000	T	0.12092	0.0294	L	0.35414	1.06	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.16188	-1.0411	10	0.39692	T	0.17	9.7571	2.6053	0.04877	0.093:0.3137:0.2949:0.2984	.	834	Q5W0Q7	USPL1_HUMAN	L	834	ENSP00000255304:S834L	ENSP00000255304:S834L	S	+	2	0	USPL1	30130715	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.601000	0.05687	-1.331000	0.02252	0.655000	0.94253	TCG		0.507	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		17	70	0	0	0	0	17	70				
STARD13	90627	broad.mit.edu	37	13	33703293	33703293	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:33703293G>T	ENST00000336934.5	-	5	1637	c.1521C>A	c.(1519-1521)gtC>gtA	p.V507V	STARD13_ENST00000255486.4_Silent_p.V499V|STARD13_ENST00000399365.3_Silent_p.V389V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	507					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GTTCAGGCAAGACATCTTTGG	0.448																																						uc001uuw.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1519-1521)GTC>GTA		StAR-related lipid transfer (START) domain							159.0	136.0	144.0					13																	33703293		2203	4300	6503	SO:0001819	synonymous_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33703293G>T	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1521C>A	13.37:g.33703293G>T						STARD13_uc001uuu.2_Silent_p.V499V|STARD13_uc001uuv.2_Silent_p.V389V|STARD13_uc001uux.2_Silent_p.V472V|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Silent_p.V492V	p.V507V	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	1647	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	507					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	c.1521C>A	CCDS9348.1																																																																																				0.448	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		23	90	1	0	6.21e-17	6.76e-17	23	90				
HTR2A	3356	broad.mit.edu	37	13	47466711	47466711	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:47466711G>A	ENST00000378688.4	-	2	558	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L	HTR2A_ENST00000543956.1_Silent_p.L59L|HTR2A_ENST00000542664.1_Silent_p.L143L			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	143					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTGCTCGGCAGAGGCCACCGG	0.572																																						uc001vbq.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(427-429)CTG>TTG		5-hydroxytryptamine receptor 2A isoform 1	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						96.0	93.0	94.0					13																	47466711		2203	4300	6503	SO:0001819	synonymous_variant	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47466711G>A	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.427C>T	13.37:g.47466711G>A						HTR2A_uc001vbr.2_Silent_p.L43L|HTR2A_uc010acr.2_Silent_p.L143L	p.L143L	NM_000621	NP_000612	P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	2	561	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	143			Extracellular (By similarity).		B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Silent	SNP	ENST00000378688.4	37	c.427C>T	CCDS9405.1																																																																																				0.572	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		20	84	0	0	0	0	20	84				
MLNR	2862	broad.mit.edu	37	13	49796350	49796350	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:49796350C>T	ENST00000218721.1	+	2	1076	c.1076C>T	c.(1075-1077)tCa>tTa	p.S359L	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	359					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		AACCTCATTTCAAAGAAGTAC	0.512																																						uc010tgj.1		NA																	0					0						c.(1075-1077)TCA>TTA		motilin receptor							142.0	138.0	139.0					13																	49796350		2203	4300	6503	SO:0001583	missense	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49796350C>T	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.1076C>T	13.37:g.49796350C>T	ENSP00000218721:p.Ser359Leu						p.S359L	NM_001507	NP_001498	O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	2	1076	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	359			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000218721.1	37	c.1076C>T	CCDS9414.1	.	.	.	.	.	.	.	.	.	.	C	34	5.380126	0.95945	.	.	ENSG00000102539	ENST00000218721	T	0.43294	0.95	5.49	5.49	0.81192	.	0.000000	0.64402	U	0.000001	T	0.55305	0.1912	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58674	-0.7595	10	0.87932	D	0	.	18.3414	0.90307	0.0:1.0:0.0:0.0	.	359	O43193	MTLR_HUMAN	L	359	ENSP00000218721:S359L	ENSP00000218721:S359L	S	+	2	0	MLNR	48694351	1.000000	0.71417	0.736000	0.30914	0.974000	0.67602	7.660000	0.83776	2.565000	0.86533	0.650000	0.86243	TCA		0.512	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		37	105	0	0	0	0	37	105				
PCDH17	27253	broad.mit.edu	37	13	58208612	58208612	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:58208612G>T	ENST00000377918.3	+	1	1958	c.1932G>T	c.(1930-1932)gaG>gaT	p.E644D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCAGCGGCGAGATCCGCACGC	0.657																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(1930-1932)GAG>GAT		protocadherin 17 precursor							98.0	98.0	98.0					13																	58208612		2202	4300	6502	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208612G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1932G>T	13.37:g.58208612G>T	ENSP00000367151:p.Glu644Asp					PCDH17_uc010aec.1_Missense_Mutation_p.E644D	p.E644D	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2824	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	644			Extracellular (Potential).|Cadherin 6.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1932G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929847	0.52759	.	.	ENSG00000118946	ENST00000377918	T	0.50813	0.73	5.32	4.47	0.54385	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.56761	0.2007	M	0.79123	2.44	0.54753	D	0.999984	B;B	0.27316	0.145;0.175	B;B	0.39738	0.205;0.308	T	0.55483	-0.8134	9	.	.	.	.	13.7108	0.62667	0.0741:0.0:0.9259:0.0	.	644;644	O14917-2;O14917	.;PCD17_HUMAN	D	644	ENSP00000367151:E644D	.	E	+	3	2	PCDH17	57106613	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.891000	0.63185	1.240000	0.43803	0.561000	0.74099	GAG		0.657	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		43	122	1	0	2.13e-23	2.33e-23	43	122				
ZIC5	85416	broad.mit.edu	37	13	100622424	100622424	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:100622424G>A	ENST00000267294.4	-	1	1739	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	502					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGGAGCGCGCGAAGACCTTGC	0.662																																						uc001vom.1		NA																	0					0						c.(1504-1506)TTC>TTT		zinc finger protein of the cerebellum 5							76.0	76.0	76.0					13																	100622424		2203	4300	6503	SO:0001819	synonymous_variant	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100622424G>A	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1506C>T	13.37:g.100622424G>A							p.F502F	NM_033132	NP_149123	Q96T25	ZIC5_HUMAN			1	1755	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		502			C2H2-type 2.		Q5VYB0	Silent	SNP	ENST00000267294.4	37	c.1506C>T	CCDS9494.2																																																																																				0.662	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		22	95	0	0	0	0	22	95				
ARHGEF40	55701	broad.mit.edu	37	14	21556189	21556189	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:21556189C>A	ENST00000298694.4	+	22	4577	c.4450C>A	c.(4450-4452)Caa>Aaa	p.Q1484K	RP11-998D10.7_ENST00000554733.2_lincRNA|ARHGEF40_ENST00000298693.3_Missense_Mutation_p.Q1436K			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1484						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCCCAGCCTGCAACCCCCCCA	0.577																																						uc001vzp.2		NA																	0					0						c.(4450-4452)CAA>AAA		hypothetical protein LOC55701							65.0	71.0	69.0					14																	21556189		2203	4300	6503	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21556189C>A		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.4450C>A	14.37:g.21556189C>A	ENSP00000298694:p.Gln1484Lys					FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.Q722K	p.Q1484K	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)	22	4479	+	all_cancers(95;0.00185)		1484					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.4450C>A	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805826	0.50421	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02579	4.44;4.24	5.36	5.36	0.76844	.	0.000000	0.45126	D	0.000381	T	0.02342	0.0072	N	0.14661	0.345	0.31209	N	0.69887	B;B	0.20261	0.029;0.043	B;B	0.20955	0.032;0.021	T	0.34900	-0.9810	10	0.16896	T	0.51	.	14.5902	0.68359	0.0:1.0:0.0:0.0	.	1436;1484	Q8TER5-4;Q8TER5	.;ARH40_HUMAN	K	1484;1436	ENSP00000298694:Q1484K;ENSP00000298693:Q1436K	ENSP00000298693:Q1436K	Q	+	1	0	ARHGEF40	20626029	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	3.549000	0.53681	2.528000	0.85240	0.655000	0.94253	CAA		0.577	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			19	79	1	0	1.45e-14	1.57e-14	19	79				
SUPT16H	11198	broad.mit.edu	37	14	21827748	21827748	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:21827748C>G	ENST00000216297.2	-	19	2534	c.2196G>C	c.(2194-2196)aaG>aaC	p.K732N		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	732					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGTGCCGCTTCTTCCCAAACA	0.463																																						uc001wao.2		NA																	0					0						c.(2194-2196)AAG>AAC		chromatin-specific transcription elongation							123.0	94.0	104.0					14																	21827748		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21827748C>G	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2196G>C	14.37:g.21827748C>G	ENSP00000216297:p.Lys732Asn					SUPT16H_uc001wan.2_5'Flank	p.K732N	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	19	2535	-	all_cancers(95;0.00115)		732					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.2196G>C	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211295	0.58343	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.79	3.66	0.41972	.	0.048031	0.85682	D	0.000000	T	0.58906	0.2155	M	0.80332	2.49	0.80722	D	1	P	0.39748	0.686	B	0.38156	0.266	T	0.64597	-0.6370	9	0.45353	T	0.12	-19.7036	12.6394	0.56700	0.0:0.8381:0.0:0.1619	.	732	Q9Y5B9	SP16H_HUMAN	N	732	.	ENSP00000216297:K732N	K	-	3	2	SUPT16H	20897588	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.568000	0.45965	1.450000	0.47717	0.655000	0.94253	AAG		0.463	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			18	49	0	0	0	0	18	49				
CDH24	64403	broad.mit.edu	37	14	23523752	23523752	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:23523752G>C	ENST00000267383.5	-	4	839	c.747C>G	c.(745-747)ctC>ctG	p.L249L	CDH24_ENST00000397359.3_Silent_p.L249L|CDH24_ENST00000487137.2_Silent_p.L249L|CDH24_ENST00000554034.1_Silent_p.L249L			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	249	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TGACATCGCTGAGCGTGACAG	0.607											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wil.2		NA																	0				central_nervous_system(1)	1						c.(745-747)CTC>CTG		cadherin-like 24 isoform 1							74.0	65.0	68.0					14																	23523752		2203	4300	6503	SO:0001819	synonymous_variant	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23523752G>C	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.747C>G	14.37:g.23523752G>C			OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	CDH24_uc010akf.2_Silent_p.L249L|CDH24_uc001win.3_Silent_p.L249L	p.L249L	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	5	1007	-	all_cancers(95;3.3e-05)		249			Cadherin 2.|Extracellular (Potential).		D3DS44|Q86UP1|Q9NT84	Silent	SNP	ENST00000267383.5	37	c.747C>G	CCDS9585.1																																																																																				0.607	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		12	27	0	0	0	0	12	27				
ACIN1	22985	broad.mit.edu	37	14	23548138	23548138	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:23548138C>G	ENST00000262710.1	-	7	2399	c.2072G>C	c.(2071-2073)tGt>tCt	p.C691S	ACIN1_ENST00000555053.1_Missense_Mutation_p.C691S|ACIN1_ENST00000457657.1_Missense_Mutation_p.C651S|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.C633S	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	691					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTTTGGCTCACAGACCTGCAG	0.542																																						uc001wit.3		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2071-2073)TGT>TCT		apoptotic chromatin condensation inducer 1							134.0	111.0	119.0					14																	23548138		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23548138C>G	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2072G>C	14.37:g.23548138C>G	ENSP00000262710:p.Cys691Ser					ACIN1_uc001wis.3_Missense_Mutation_p.C373S|ACIN1_uc010akg.2_Missense_Mutation_p.C691S	p.C691S	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	7	2400	-	all_cancers(95;1.36e-05)		691					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.2072G>C	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.360875	0.24684	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.04706	3.57;3.57;3.58	6.07	3.75	0.43078	.	0.445756	0.16748	N	0.201159	T	0.02193	0.0068	N	0.08118	0	0.22001	N	0.999421	B;B;B	0.10296	0.003;0.002;0.002	B;B;B	0.04013	0.001;0.0;0.0	T	0.47302	-0.9128	10	0.08179	T	0.78	0.0233	5.8093	0.18457	0.7414:0.1743:0.0843:0.0	.	691;691;651	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	S	691;651;691	ENSP00000262710:C691S;ENSP00000405677:C651S;ENSP00000451328:C691S	ENSP00000262710:C691S	C	-	2	0	ACIN1	22617978	1.000000	0.71417	0.997000	0.53966	0.652000	0.38707	1.903000	0.39858	1.114000	0.41781	-0.266000	0.10368	TGT		0.542	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		9	39	0	0	0	0	9	39				
ACIN1	22985	broad.mit.edu	37	14	23549752	23549752	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:23549752C>G	ENST00000262710.1	-	6	1293	c.966G>C	c.(964-966)gaG>gaC	p.E322D	ACIN1_ENST00000555053.1_Missense_Mutation_p.E322D|ACIN1_ENST00000457657.1_Missense_Mutation_p.E282D|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.E264D	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	322	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTTTGGGTCTCTCATCCATCA	0.463																																						uc001wit.3		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(964-966)GAG>GAC		apoptotic chromatin condensation inducer 1							253.0	214.0	227.0					14																	23549752		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23549752C>G	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.966G>C	14.37:g.23549752C>G	ENSP00000262710:p.Glu322Asp					ACIN1_uc001wis.3_Missense_Mutation_p.E4D|ACIN1_uc010akg.2_Missense_Mutation_p.E322D|ACIN1_uc010tnj.1_Missense_Mutation_p.E282D	p.E322D	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	1294	-	all_cancers(95;1.36e-05)		322			Glu-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.966G>C	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496967	0.44352	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.22743	1.94;1.94;1.94	5.02	4.12	0.48240	.	0.000000	0.41500	D	0.000861	T	0.16128	0.0388	N	0.24115	0.695	0.33238	D	0.556885	P;P;P	0.43788	0.729;0.61;0.817	B;B;B	0.43950	0.437;0.253;0.373	T	0.17471	-1.0368	10	0.39692	T	0.17	-14.2735	9.5283	0.39178	0.0:0.903:0.0:0.097	.	322;322;282	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	D	322;282;322	ENSP00000262710:E322D;ENSP00000405677:E282D;ENSP00000451328:E322D	ENSP00000262710:E322D	E	-	3	2	ACIN1	22619592	0.946000	0.32159	0.993000	0.49108	0.984000	0.73092	0.139000	0.16036	1.322000	0.45245	0.650000	0.86243	GAG		0.463	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		30	83	0	0	0	0	30	83				
NYNRIN	57523	broad.mit.edu	37	14	24884017	24884017	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:24884017C>G	ENST00000382554.3	+	9	3380	c.3062C>G	c.(3061-3063)tCt>tGt	p.S1021C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1021					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GACCTTGACTCTTCGCTGGCG	0.607																																						uc001wpf.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3061-3063)TCT>TGT		hypothetical protein LOC57523							96.0	127.0	117.0					14																	24884017		2198	4291	6489	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884017C>G	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3062C>G	14.37:g.24884017C>G	ENSP00000371994:p.Ser1021Cys						p.S1021C	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			9	3380	+			1021					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.3062C>G	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972082	0.53614	.	.	ENSG00000205978	ENST00000382554	T	0.12465	2.68	4.36	3.47	0.39725	.	.	.	.	.	T	0.13586	0.0329	L	0.44542	1.39	0.09310	N	1	D	0.58620	0.983	B	0.43783	0.431	T	0.13202	-1.0518	9	0.87932	D	0	.	7.8103	0.29228	0.0:0.8863:0.0:0.1137	.	1021	Q9P2P1	NYNRI_HUMAN	C	1021	ENSP00000371994:S1021C	ENSP00000371994:S1021C	S	+	2	0	NYNRIN	23953857	0.671000	0.27521	0.005000	0.12908	0.173000	0.22820	1.262000	0.32992	1.042000	0.40150	0.313000	0.20887	TCT		0.607	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			22	35	0	0	0	0	22	35				
MIA2	117153	broad.mit.edu	37	14	39716595	39716595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:39716595C>T	ENST00000280082.3	+	4	1016	c.817C>T	c.(817-819)Caa>Taa	p.Q273*	RP11-407N17.3_ENST00000553728.1_Nonsense_Mutation_p.Q273*|MIA2_ENST00000556784.1_Nonsense_Mutation_p.Q272*	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	273					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TGGTGAGCCTCAAACAGAACA	0.393																																						uc001wux.2		NA																	0				ovary(1)|breast(1)	2						c.(817-819)CAA>TAA		melanoma inhibitory activity 2							92.0	91.0	91.0					14																	39716595		2203	4300	6503	SO:0001587	stop_gained	117153					extracellular region		g.chr14:39716595C>T	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.817C>T	14.37:g.39716595C>T	ENSP00000280082:p.Gln273*					MIA2_uc010amy.1_Nonsense_Mutation_p.Q204*	p.Q273*	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)	4	1011	+	Hepatocellular(127;0.213)		273					A1L4H0|Q9H6C1	Nonsense_Mutation	SNP	ENST00000280082.3	37	c.817C>T	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632692	0.47049	.	.	ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000280082;ENST00000556784;ENST00000553728	.	.	.	5.05	4.08	0.47627	.	0.000000	0.41823	D	0.000811	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.3792	7.5498	0.27790	0.0:0.8837:0.0:0.1163	.	.	.	.	X	273;272;273	.	.	Q	+	1	0	MIA2;RP11-407N17.3	38786346	.	.	0.598000	0.28837	0.039000	0.13416	.	.	2.639000	0.89480	0.650000	0.86243	CAA		0.393	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		9	36	0	0	0	0	9	36				
WDHD1	11169	broad.mit.edu	37	14	55474026	55474026	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:55474026C>T	ENST00000360586.3	-	7	637	c.572G>A	c.(571-573)aGa>aAa	p.R191K	WDHD1_ENST00000421192.1_Missense_Mutation_p.R68K|WDHD1_ENST00000420358.2_Missense_Mutation_p.R68K	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	191					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CCAAGCAAGTCTGCAGATTGA	0.318																																						uc001xbm.1		NA																	0				skin(1)	1						c.(571-573)AGA>AAA		WD repeat and HMG-box DNA binding protein 1							104.0	99.0	101.0					14																	55474026		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55474026C>T	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.572G>A	14.37:g.55474026C>T	ENSP00000353793:p.Arg191Lys					WDHD1_uc001xbn.1_Missense_Mutation_p.R68K	p.R191K	NM_007086	NP_009017	O75717	WDHD1_HUMAN			7	650	-			191			WD 5.		C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.572G>A	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038403	0.93630	.	.	ENSG00000198554	ENST00000360586;ENST00000421192;ENST00000420358	T;T;T	0.62639	5.03;0.01;0.01	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);Translation initiation factor 2A, beta propellor-like domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75102	0.3804	M	0.78916	2.43	0.80722	D	1	P	0.41978	0.767	P	0.52424	0.698	T	0.69727	-0.5067	10	0.19590	T	0.45	.	19.7156	0.96119	0.0:1.0:0.0:0.0	.	191	O75717	WDHD1_HUMAN	K	191;68;68	ENSP00000353793:R191K;ENSP00000391049:R68K;ENSP00000399349:R68K	ENSP00000353793:R191K	R	-	2	0	WDHD1	54543776	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.258000	0.78371	2.658000	0.90341	0.655000	0.94253	AGA		0.318	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		6	26	0	0	0	0	6	26				
ESR2	2100	broad.mit.edu	37	14	64746790	64746790	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:64746790G>A	ENST00000341099.4	-	3	861	c.444C>T	c.(442-444)ttC>ttT	p.F148F	ESR2_ENST00000358599.5_Silent_p.F148F|ESR2_ENST00000553796.1_Silent_p.F148F|ESR2_ENST00000357782.2_Silent_p.F148F|ESR2_ENST00000542956.1_Silent_p.F148F|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000353772.3_Silent_p.F148F|ESR2_ENST00000554572.1_Silent_p.F148F|ESR2_ENST00000557772.1_Silent_p.F148F|ESR2_ENST00000555278.1_Silent_p.F148F|ESR2_ENST00000267525.6_Silent_p.F148F	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	148	Modulating.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	AGACAGCGCAGAAGTGAGCAT	0.478																																						uc001xha.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(442-444)TTC>TTT		estrogen receptor beta isoform 1	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						246.0	224.0	231.0					14																	64746790		2203	4300	6503	SO:0001819	synonymous_variant	2100				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64746790G>A	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.444C>T	14.37:g.64746790G>A						ESR2_uc001xgu.2_Silent_p.F148F|ESR2_uc001xgv.2_Silent_p.F148F|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Silent_p.F148F|ESR2_uc001xgy.1_Silent_p.F148F|ESR2_uc001xgz.1_Silent_p.F148F|ESR2_uc010aqb.1_Intron|ESR2_uc010aqc.1_Silent_p.F148F	p.F148F	NM_001437	NP_001428	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	3	912	-			148			Modulating.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Silent	SNP	ENST00000341099.4	37	c.444C>T	CCDS9762.1																																																																																				0.478	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			39	190	0	0	0	0	39	190				
GALNT16	57452	broad.mit.edu	37	14	69805378	69805378	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:69805378C>G	ENST00000337827.4	+	10	1305	c.978C>G	c.(976-978)ttC>ttG	p.F326L	GALNT16_ENST00000448469.3_Missense_Mutation_p.F326L|GALNT16_ENST00000553669.1_Missense_Mutation_p.F326L	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	326	Catalytic subdomain B.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGCTCTCCTTCAGGGTGTGGA	0.592																																						uc010aqu.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(976-978)TTC>TTG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							132.0	113.0	120.0					14																	69805378		2203	4300	6503	SO:0001583	missense	57452					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr14:69805378C>G	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.978C>G	14.37:g.69805378C>G	ENSP00000336729:p.Phe326Leu					GALNTL1_uc001xla.1_Missense_Mutation_p.F326L|GALNTL1_uc001xlb.1_Missense_Mutation_p.F326L	p.F326L	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN		all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)	10	1071	+			326			Catalytic subdomain B.|Lumenal (Potential).		Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	c.978C>G	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573193	0.86542	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.64085	-0.08;-0.08;-0.08	5.34	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.74359	0.3706	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.76072	-0.3093	10	0.66056	D	0.02	.	10.7206	0.46038	0.0:0.7436:0.0:0.2564	.	326;326	Q8N428;Q58A55	GLTL1_HUMAN;.	L	326	ENSP00000336729:F326L;ENSP00000402970:F326L;ENSP00000451200:F326L	ENSP00000336729:F326L	F	+	3	2	GALNTL1	68875131	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.901000	0.56303	1.247000	0.43917	0.591000	0.81541	TTC		0.592	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		11	92	0	0	0	0	11	92				
NRXN3	9369	broad.mit.edu	37	14	79432618	79432618	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:79432618G>A	ENST00000554719.1	+	9	2018	c.1527G>A	c.(1525-1527)ctG>ctA	p.L509L	NRXN3_ENST00000335750.5_Silent_p.L509L	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)		GCAGCTACCTGAGCCTTGCCA	0.483																																						uc001xun.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(1525-1527)CTG>CTA		neurexin 3 isoform 1 precursor							205.0	158.0	174.0					14																	79432618		2203	4300	6503	SO:0001819	synonymous_variant	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79432618G>A	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.1527G>A	14.37:g.79432618G>A						NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.L634L	p.L509L	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)	9	2018	+		Renal(4;0.00876)	882			Extracellular (Potential).|Laminin G-like 5.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000554719.1	37	c.1527G>A	CCDS9870.1																																																																																				0.483	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		17	81	0	0	0	0	17	81				
TRIP11	9321	broad.mit.edu	37	14	92469778	92469778	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92469778C>T	ENST00000267622.4	-	11	4915	c.4542G>A	c.(4540-4542)ttG>ttA	p.L1514L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1514					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTTCTCTTTCAATAGCTGTT	0.378			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(4540-4542)TTG>TTA		thyroid hormone receptor interactor 11							98.0	87.0	91.0					14																	92469778		2203	4300	6503	SO:0001819	synonymous_variant	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92469778C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4542G>A	14.37:g.92469778C>T						TRIP11_uc010auf.1_Silent_p.L1250L	p.L1514L	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	5330	-			1514			Potential.		B2RUT2|O14689|O15154|O95949	Silent	SNP	ENST00000267622.4	37	c.4542G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	0.865	-0.733912	0.03111	.	.	ENSG00000100815	ENST00000554357	.	.	.	5.92	2.1	0.27182	.	.	.	.	.	T	0.53722	0.1814	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43310	-0.9399	4	.	.	.	.	5.9654	0.19322	0.1199:0.6211:0.0:0.2591	.	.	.	.	K	1230	.	.	E	-	1	0	TRIP11	91539531	0.953000	0.32496	0.897000	0.35233	0.274000	0.26718	0.088000	0.14979	0.431000	0.26258	0.467000	0.42956	GAA		0.378	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			6	52	0	0	0	0	6	52				
TRIP11	9321	broad.mit.edu	37	14	92469811	92469811	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92469811C>T	ENST00000267622.4	-	11	4882	c.4509G>A	c.(4507-4509)atG>atA	p.M1503I		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1503			M -> V (in dbSNP:rs34839498).		protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CCTTCTCCTTCATTGAGTGGC	0.413			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(4507-4509)ATG>ATA		thyroid hormone receptor interactor 11							141.0	130.0	134.0					14																	92469811		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92469811C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4509G>A	14.37:g.92469811C>T	ENSP00000267622:p.Met1503Ile					TRIP11_uc010auf.1_Missense_Mutation_p.M1239I	p.M1503I	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	5297	-			1503			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.4509G>A	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.989|8.989	0.977150|0.977150	0.18812|0.18812	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000554357|ENST00000267622;ENST00000542257	.|T	.|0.04049	.|3.72	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|0.239231	.|0.48286	.|D	.|0.000190	T|T	0.07324|0.07324	0.0185|0.0185	L|L	0.39898|0.39898	1.24|1.24	0.42720|0.42720	D|D	0.993671|0.993671	.|B;B	.|0.12630	.|0.006;0.004	.|B;B	.|0.12837	.|0.005;0.008	T|T	0.38394|0.38394	-0.9663|-0.9663	5|10	.|0.32370	.|T	.|0.25	.|.	20.6721|20.6721	0.99693|0.99693	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1239;1503	.|F5H1Z0;Q15643	.|.;TRIPB_HUMAN	K|I	1219|1503;1239	.|ENSP00000267622:M1503I	.|ENSP00000267622:M1503I	E|M	-|-	1|3	0|0	TRIP11|TRIP11	91539564|91539564	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.135000|0.135000	0.20990|0.20990	1.620000|1.620000	0.36976|0.36976	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GAA|ATG		0.413	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			15	64	0	0	0	0	15	64				
TRIP11	9321	broad.mit.edu	37	14	92469841	92469841	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92469841C>T	ENST00000267622.4	-	11	4852	c.4479G>A	c.(4477-4479)ctG>ctA	p.L1493L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1493					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTTTTCTCGCAGCATCATAG	0.378			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(4477-4479)CTG>CTA		thyroid hormone receptor interactor 11							189.0	181.0	184.0					14																	92469841		2203	4300	6503	SO:0001819	synonymous_variant	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92469841C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4479G>A	14.37:g.92469841C>T						TRIP11_uc010auf.1_Silent_p.L1229L	p.L1493L	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	5267	-			1493			Potential.		B2RUT2|O14689|O15154|O95949	Silent	SNP	ENST00000267622.4	37	c.4479G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	0.299	-0.974914	0.02215	.	.	ENSG00000100815	ENST00000554357	.	.	.	6.08	-3.51	0.04696	.	.	.	.	.	T	0.53384	0.1793	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51317	-0.8721	4	.	.	.	.	9.3557	0.38164	0.5808:0.306:0.0:0.1132	.	.	.	.	T	1209	.	.	A	-	1	0	TRIP11	91539594	0.001000	0.12720	0.741000	0.31004	0.115000	0.19883	-1.574000	0.02133	-0.667000	0.05303	-0.282000	0.10007	GCG		0.378	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			20	92	0	0	0	0	20	92				
TRIP11	9321	broad.mit.edu	37	14	92470322	92470322	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92470322C>T	ENST00000267622.4	-	11	4371	c.3998G>A	c.(3997-3999)aGt>aAt	p.S1333N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1333					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTCAGACTTACTTGCTCTAAG	0.383			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(3997-3999)AGT>AAT		thyroid hormone receptor interactor 11							68.0	69.0	69.0					14																	92470322		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470322C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3998G>A	14.37:g.92470322C>T	ENSP00000267622:p.Ser1333Asn					TRIP11_uc010auf.1_Missense_Mutation_p.S1069N	p.S1333N	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	4786	-			1333			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3998G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	4.543	0.100901	0.08731	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.04156	3.69	4.44	0.255	0.15561	.	1.594250	0.03218	N	0.177195	T	0.04452	0.0122	L	0.40543	1.245	0.09310	N	1	B;B	0.27853	0.005;0.191	B;B	0.23018	0.009;0.043	T	0.40421	-0.9564	10	0.25751	T	0.34	.	1.5808	0.02634	0.4383:0.2701:0.1199:0.1716	.	1069;1333	F5H1Z0;Q15643	.;TRIPB_HUMAN	N	1333;1069	ENSP00000267622:S1333N	ENSP00000267622:S1333N	S	-	2	0	TRIP11	91540075	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.323000	0.02692	0.103000	0.17682	0.305000	0.20034	AGT		0.383	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			12	59	0	0	0	0	12	59				
TRIP11	9321	broad.mit.edu	37	14	92470328	92470328	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92470328C>G	ENST00000267622.4	-	11	4365	c.3992G>C	c.(3991-3993)aGa>aCa	p.R1331T		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1331					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTACTTGCTCTAAGACACTC	0.383			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(3991-3993)AGA>ACA		thyroid hormone receptor interactor 11							65.0	66.0	65.0					14																	92470328		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470328C>G	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3992G>C	14.37:g.92470328C>G	ENSP00000267622:p.Arg1331Thr					TRIP11_uc010auf.1_Missense_Mutation_p.R1067T	p.R1331T	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	4780	-			1331			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3992G>C	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.329|2.329	-0.353726|-0.353726	0.05173|0.05173	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.03951|.	3.75|.	4.27|4.27	-2.93|-2.93	0.05598|0.05598	.|.	1.274230|.	0.05261|.	N|.	0.515763|.	T|.	0.30008|.	0.0751|.	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;B|.	0.21753|.	0.05;0.06|.	B;B|.	0.20577|.	0.023;0.03|.	T|.	0.31861|.	-0.9928|.	10|.	0.35671|.	T|.	0.21|.	.|.	5.9019|5.9019	0.18972|0.18972	0.0:0.3534:0.3572:0.2894|0.0:0.3534:0.3572:0.2894	.|.	1067;1331|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	T|Y	1331;1067|1046	ENSP00000267622:R1331T|.	ENSP00000267622:R1331T|.	R|X	-|-	2|3	0|2	TRIP11|TRIP11	91540081|91540081	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.027000|0.027000	0.11550|0.11550	-2.133000|-2.133000	0.01308|0.01308	-0.768000|-0.768000	0.04626|0.04626	0.455000|0.455000	0.32223|0.32223	AGA|TAG		0.383	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			9	57	0	0	0	0	9	57				
TRIP11	9321	broad.mit.edu	37	14	92470587	92470587	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92470587C>G	ENST00000267622.4	-	11	4106	c.3733G>C	c.(3733-3735)Gag>Cag	p.E1245Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1245					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGGTGAAGCTCTTCCTGAAGC	0.408			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(3733-3735)GAG>CAG		thyroid hormone receptor interactor 11							79.0	65.0	69.0					14																	92470587		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470587C>G	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3733G>C	14.37:g.92470587C>G	ENSP00000267622:p.Glu1245Gln					TRIP11_uc010auf.1_Missense_Mutation_p.E981Q	p.E1245Q	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	4521	-			1245			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3733G>C	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.93|15.93	2.979472|2.979472	0.53827|0.53827	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.19532|.	2.14|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.052946|.	0.64402|.	D|.	0.000001|.	T|T	0.59998|0.59998	0.2235|0.2235	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999994|0.999994	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79108|.	0.982;0.992|.	T|T	0.54105|0.54105	-0.8343|-0.8343	10|5	0.41790|.	T|.	0.15|.	.|.	19.3015|19.3015	0.94145|0.94145	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	981;1245|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	Q|T	1245;981|960	ENSP00000267622:E1245Q|.	ENSP00000267622:E1245Q|.	E|R	-|-	1|2	0|0	TRIP11|TRIP11	91540340|91540340	1.000000|1.000000	0.71417|0.71417	0.165000|0.165000	0.22776|0.22776	0.435000|0.435000	0.31806|0.31806	7.773000|7.773000	0.85462|0.85462	2.550000|2.550000	0.86006|0.86006	0.455000|0.455000	0.32223|0.32223	GAG|AGA		0.408	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			8	39	0	0	0	0	8	39				
TRIP11	9321	broad.mit.edu	37	14	92470704	92470704	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92470704C>T	ENST00000267622.4	-	11	3989	c.3616G>A	c.(3616-3618)Gag>Aag	p.E1206K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1206					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGTAGAAGCTCCTCAAATTGA	0.398			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(3616-3618)GAG>AAG		thyroid hormone receptor interactor 11							88.0	84.0	85.0					14																	92470704		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470704C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3616G>A	14.37:g.92470704C>T	ENSP00000267622:p.Glu1206Lys					TRIP11_uc010auf.1_Missense_Mutation_p.E942K	p.E1206K	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	4404	-			1206			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3616G>A	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.77|16.77	3.215094|3.215094	0.58452|0.58452	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.05925|.	3.37|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.054165|.	0.64402|.	D|.	0.000001|.	T|T	0.59878|0.59878	0.2226|0.2226	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.91635|.	0.984;0.999|.	T|T	0.54523|0.54523	-0.8281|-0.8281	10|5	0.17832|.	T|.	0.49|.	.|.	19.0334|19.0334	0.92967|0.92967	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	942;1206|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	K|E	1206;942|921	ENSP00000267622:E1206K|.	ENSP00000267622:E1206K|.	E|G	-|-	1|2	0|0	TRIP11|TRIP11	91540457|91540457	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.136000|0.136000	0.21042|0.21042	5.856000|5.856000	0.69518|0.69518	2.488000|2.488000	0.83962|0.83962	0.455000|0.455000	0.32223|0.32223	GAG|GGA		0.398	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			16	64	0	0	0	0	16	64				
TRIP11	9321	broad.mit.edu	37	14	92471001	92471001	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471001C>T	ENST00000267622.4	-	11	3692	c.3319G>A	c.(3319-3321)Gag>Aag	p.E1107K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1107			E -> D (in dbSNP:rs4619320).		protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTAGTCTTCTCATTCAAAACA	0.363			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(3319-3321)GAG>AAG		thyroid hormone receptor interactor 11							92.0	88.0	89.0					14																	92471001		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471001C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3319G>A	14.37:g.92471001C>T	ENSP00000267622:p.Glu1107Lys					TRIP11_uc010auf.1_Missense_Mutation_p.E843K	p.E1107K	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	4107	-			1107			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3319G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834038	0.50951	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.16073	2.37	5.2	5.2	0.72013	.	0.055570	0.64402	D	0.000001	T	0.30792	0.0776	L	0.34521	1.04	0.80722	D	1	D;D	0.64830	0.985;0.994	P;P	0.62014	0.874;0.897	T	0.02238	-1.1190	10	0.54805	T	0.06	.	18.7643	0.91866	0.0:1.0:0.0:0.0	.	843;1107	F5H1Z0;Q15643	.;TRIPB_HUMAN	K	1107;843	ENSP00000267622:E1107K	ENSP00000267622:E1107K	E	-	1	0	TRIP11	91540754	1.000000	0.71417	0.974000	0.42286	0.011000	0.07611	6.049000	0.71053	2.420000	0.82092	0.563000	0.77884	GAG		0.363	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			13	35	0	0	0	0	13	35				
TRIP11	9321	broad.mit.edu	37	14	92471131	92471131	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471131C>T	ENST00000267622.4	-	11	3562	c.3189G>A	c.(3187-3189)caG>caA	p.Q1063Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1063					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CCAAATCTTTCTGCTGAATAA	0.343			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(3187-3189)CAG>CAA		thyroid hormone receptor interactor 11							74.0	75.0	75.0					14																	92471131		2203	4300	6503	SO:0001819	synonymous_variant	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471131C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3189G>A	14.37:g.92471131C>T						TRIP11_uc010auf.1_Silent_p.Q799Q	p.Q1063Q	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3977	-			1063			Potential.		B2RUT2|O14689|O15154|O95949	Silent	SNP	ENST00000267622.4	37	c.3189G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.473228	0.01044	.	.	ENSG00000100815	ENST00000554357	.	.	.	5.69	3.88	0.44766	.	.	.	.	.	T	0.63010	0.2475	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59710	-0.7403	4	.	.	.	.	12.2423	0.54549	0.0:0.8624:0.0:0.1376	.	.	.	.	K	779	.	.	E	-	1	0	TRIP11	91540884	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	2.114000	0.41911	0.772000	0.33382	-0.261000	0.10672	GAA		0.343	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			14	42	0	0	0	0	14	42				
TRIP11	9321	broad.mit.edu	37	14	92471181	92471181	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471181C>G	ENST00000267622.4	-	11	3512	c.3139G>C	c.(3139-3141)Gat>Cat	p.D1047H		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1047					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GACAACTGATCAATCTGTTTA	0.328			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(3139-3141)GAT>CAT		thyroid hormone receptor interactor 11							59.0	60.0	60.0					14																	92471181		2203	4299	6502	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471181C>G	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3139G>C	14.37:g.92471181C>G	ENSP00000267622:p.Asp1047His					TRIP11_uc010auf.1_Missense_Mutation_p.D783H	p.D1047H	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3927	-			1047			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3139G>C	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.58|17.58	3.425302|3.425302	0.62733|0.62733	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.06528|.	3.29|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.052265|.	0.64402|.	D|.	0.000001|.	T|.	0.60650|.	0.2285|.	L|L	0.32530|0.32530	0.975|0.975	0.51233|0.51233	D|D	0.999916|0.999916	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.996;0.999|.	T|.	0.53401|.	-0.8444|.	10|.	0.62326|.	D|.	0.03|.	.|.	19.8688|19.8688	0.96842|0.96842	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	783;1047|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	H|S	1047;783|762	ENSP00000267622:D1047H|.	ENSP00000267622:D1047H|.	D|X	-|-	1|2	0|2	TRIP11|TRIP11	91540934|91540934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	6.047000|6.047000	0.71038|0.71038	2.695000|2.695000	0.91970|0.91970	0.558000|0.558000	0.71614|0.71614	GAT|TGA		0.328	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			9	41	0	0	0	0	9	41				
TRIP11	9321	broad.mit.edu	37	14	92471470	92471470	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471470C>T	ENST00000267622.4	-	11	3223	c.2850G>A	c.(2848-2850)atG>atA	p.M950I		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	950					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GTGTGGCGTTCATTTGCTCAT	0.368			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(2848-2850)ATG>ATA		thyroid hormone receptor interactor 11							194.0	190.0	191.0					14																	92471470		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471470C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2850G>A	14.37:g.92471470C>T	ENSP00000267622:p.Met950Ile					TRIP11_uc010auf.1_Missense_Mutation_p.M686I	p.M950I	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3638	-			950			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.2850G>A	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.720|8.720	0.914212|0.914212	0.17907|0.17907	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000554357|ENST00000267622;ENST00000542257	.|T	.|0.04194	.|3.68	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	.|0.188057	.|0.64402	.|D	.|0.000020	T|T	0.12518|0.12518	0.0304|0.0304	L|L	0.59436|0.59436	1.845|1.845	0.37347|0.37347	D|D	0.910641|0.910641	.|P;D	.|0.57899	.|0.589;0.981	.|B;P	.|0.54026	.|0.288;0.74	T|T	0.01661|0.01661	-1.1301|-1.1301	5|10	.|0.38643	.|T	.|0.18	.|.	13.7479|13.7479	0.62887|0.62887	0.0:0.9302:0.0:0.0698|0.0:0.9302:0.0:0.0698	.|.	.|686;950	.|F5H1Z0;Q15643	.|.;TRIPB_HUMAN	K|I	666|950;686	.|ENSP00000267622:M950I	.|ENSP00000267622:M950I	E|M	-|-	1|3	0|0	TRIP11|TRIP11	91541223|91541223	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.023000|0.023000	0.10783|0.10783	2.553000|2.553000	0.45837|0.45837	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GAA|ATG		0.368	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			15	113	0	0	0	0	15	113				
TRIP11	9321	broad.mit.edu	37	14	92471478	92471478	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471478C>T	ENST00000267622.4	-	11	3215	c.2842G>A	c.(2842-2844)Gag>Aag	p.E948K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	948					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTCATTTGCTCATGCTGGTAT	0.363			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(2842-2844)GAG>AAG		thyroid hormone receptor interactor 11							200.0	194.0	196.0					14																	92471478		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471478C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2842G>A	14.37:g.92471478C>T	ENSP00000267622:p.Glu948Lys					TRIP11_uc010auf.1_Missense_Mutation_p.E684K	p.E948K	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3630	-			948			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.2842G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587534	0.28268	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.05513	3.43	6.04	6.04	0.98038	.	0.160521	0.56097	D	0.000031	T	0.11580	0.0282	L	0.49350	1.555	0.49051	D	0.999744	P;P	0.51653	0.75;0.947	B;P	0.48524	0.232;0.58	T	0.00719	-1.1595	10	0.42905	T	0.14	.	13.7479	0.62887	0.0:0.9302:0.0:0.0698	.	684;948	F5H1Z0;Q15643	.;TRIPB_HUMAN	K	948;684	ENSP00000267622:E948K	ENSP00000267622:E948K	E	-	1	0	TRIP11	91541231	1.000000	0.71417	0.998000	0.56505	0.080000	0.17528	4.204000	0.58460	2.873000	0.98535	0.563000	0.77884	GAG		0.363	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			15	106	0	0	0	0	15	106				
TRIP11	9321	broad.mit.edu	37	14	92471517	92471517	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471517C>G	ENST00000267622.4	-	11	3176	c.2803G>C	c.(2803-2805)Gag>Cag	p.E935Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	935					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTCTTTTGCTCTTGTAAAGAC	0.368			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(2803-2805)GAG>CAG		thyroid hormone receptor interactor 11							206.0	193.0	198.0					14																	92471517		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471517C>G	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2803G>C	14.37:g.92471517C>G	ENSP00000267622:p.Glu935Gln					TRIP11_uc010auf.1_Missense_Mutation_p.E671Q	p.E935Q	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3591	-			935			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.2803G>C	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.86|13.86	2.364253|2.364253	0.41902|0.41902	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.04809|.	3.55|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.250055|.	0.40728|.	N|.	0.001033|.	T|T	0.75228|0.75228	0.3821|0.3821	M|M	0.63843|0.63843	1.955|1.955	0.43531|0.43531	D|D	0.995814|0.995814	P;D|.	0.89917|.	0.936;1.0|.	P;D|.	0.74023|.	0.64;0.982|.	T|T	0.70565|0.70565	-0.4837|-0.4837	10|5	0.33940|.	T|.	0.23|.	.|.	20.6634|20.6634	0.99662|0.99662	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	671;935|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	Q|T	935;671|650	ENSP00000267622:E935Q|.	ENSP00000267622:E935Q|.	E|R	-|-	1|2	0|0	TRIP11|TRIP11	91541270|91541270	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.516000|0.516000	0.34256|0.34256	3.770000|3.770000	0.55310|0.55310	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.368	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			15	107	0	0	0	0	15	107				
TRIP11	9321	broad.mit.edu	37	14	92471562	92471562	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471562C>T	ENST00000267622.4	-	11	3131	c.2758G>A	c.(2758-2760)Gaa>Aaa	p.E920K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	920					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTTTGATCTTCAATTATCTTT	0.373			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(2758-2760)GAA>AAA		thyroid hormone receptor interactor 11							220.0	196.0	204.0					14																	92471562		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471562C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2758G>A	14.37:g.92471562C>T	ENSP00000267622:p.Glu920Lys					TRIP11_uc010auf.1_Missense_Mutation_p.E656K	p.E920K	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3546	-			920			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.2758G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777691	0.70107	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.04970	3.52	6.04	5.16	0.70880	.	0.098404	0.64402	N	0.000002	T	0.22085	0.0532	M	0.66939	2.045	0.58432	D	0.99999	P;D	0.71674	0.944;0.998	P;D	0.71184	0.719;0.972	T	0.00690	-1.1608	10	0.38643	T	0.18	.	15.078	0.72090	0.0:0.9325:0.0:0.0675	.	656;920	F5H1Z0;Q15643	.;TRIPB_HUMAN	K	920;656	ENSP00000267622:E920K	ENSP00000267622:E920K	E	-	1	0	TRIP11	91541315	1.000000	0.71417	0.959000	0.39883	0.568000	0.35870	4.762000	0.62250	1.561000	0.49584	0.563000	0.77884	GAA		0.373	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			24	86	0	0	0	0	24	86				
TRIP11	9321	broad.mit.edu	37	14	92471643	92471643	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471643C>T	ENST00000267622.4	-	11	3050	c.2677G>A	c.(2677-2679)Gaa>Aaa	p.E893K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	893					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GATGCTAGTTCAGTAACACTA	0.403			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(2677-2679)GAA>AAA		thyroid hormone receptor interactor 11							172.0	152.0	159.0					14																	92471643		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471643C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2677G>A	14.37:g.92471643C>T	ENSP00000267622:p.Glu893Lys					TRIP11_uc010auf.1_Missense_Mutation_p.E629K	p.E893K	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3465	-			893			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.2677G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089084	0.36855	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.07327	3.2	6.04	5.16	0.70880	.	0.099063	0.64402	N	0.000002	T	0.20251	0.0487	L	0.61218	1.895	0.58432	D	0.99999	P;D	0.54397	0.707;0.966	B;P	0.54856	0.341;0.762	T	0.00613	-1.1644	10	0.42905	T	0.14	.	15.2605	0.73617	0.0:0.933:0.0:0.067	.	629;893	F5H1Z0;Q15643	.;TRIPB_HUMAN	K	893;629	ENSP00000267622:E893K	ENSP00000267622:E893K	E	-	1	0	TRIP11	91541396	1.000000	0.71417	0.015000	0.15790	0.004000	0.04260	7.580000	0.82523	1.562000	0.49601	0.563000	0.77884	GAA		0.403	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			18	89	0	0	0	0	18	89				
TRIP11	9321	broad.mit.edu	37	14	92488028	92488028	+	Missense_Mutation	SNP	G	G	A	rs201247031		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92488028G>A	ENST00000267622.4	-	4	833	c.460C>T	c.(460-462)Cct>Tct	p.P154S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	154					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAAGCTGAAGGATGATGACTA	0.433			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(460-462)CCT>TCT		thyroid hormone receptor interactor 11		G	SER/PRO	0,4406		0,0,2203	90.0	86.0	87.0		460	-1.2	0.0	14		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRIP11	NM_004239.3	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	154/1980	92488028	1,13005	2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92488028G>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.460C>T	14.37:g.92488028G>A	ENSP00000267622:p.Pro154Ser						p.P154S	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	4	1248	-			154			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.460C>T	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	g	6.225	0.409609	0.11812	0.0	1.16E-4	ENSG00000100815	ENST00000267622	T	0.62105	0.05	5.42	-1.24	0.09435	.	1.093870	0.06794	N	0.787482	T	0.29652	0.0740	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.13899	-1.0492	10	0.07990	T	0.79	.	2.3339	0.04242	0.3087:0.267:0.2951:0.1292	.	154	Q15643	TRIPB_HUMAN	S	154	ENSP00000267622:P154S	ENSP00000267622:P154S	P	-	1	0	TRIP11	91557781	0.014000	0.17966	0.000000	0.03702	0.008000	0.06430	-0.054000	0.11826	-0.588000	0.05882	-0.950000	0.02660	CCT		0.433	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			11	44	0	0	0	0	11	44				
RIN3	79890	broad.mit.edu	37	14	93022127	93022127	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:93022127G>C	ENST00000216487.7	+	2	235	c.76G>C	c.(76-78)Gag>Cag	p.E26Q		NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	26	Poly-Glu.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGGAGAGGAAGAGGAAGAGGA	0.517																																						uc001yap.2		NA																	0				lung(2)|ovary(1)	3						c.(76-78)GAG>CAG		Ras and Rab interactor 3							71.0	64.0	66.0					14																	93022127		2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93022127G>C	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.76G>C	14.37:g.93022127G>C	ENSP00000216487:p.Glu26Gln					RIN3_uc010auk.2_5'UTR	p.E26Q	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			2	228	+		all_cancers(154;0.0701)	26			Poly-Glu.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.76G>C	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187326	0.38609	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.06142	3.34	5.32	4.42	0.53409	.	0.537000	0.14015	N	0.347161	T	0.05823	0.0152	N	0.16478	0.41	0.80722	D	1	P	0.48911	0.917	B	0.43478	0.421	T	0.53913	-0.8371	10	0.28530	T	0.3	-12.4073	13.4964	0.61428	0.0:0.1572:0.8428:0.0	.	26	Q8TB24	RIN3_HUMAN	Q	26	ENSP00000216487:E26Q	ENSP00000216487:E26Q	E	+	1	0	RIN3	92091880	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	5.005000	0.63972	1.354000	0.45846	0.655000	0.94253	GAG		0.517	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			14	22	0	0	0	0	14	22				
UNC79	57578	broad.mit.edu	37	14	94041424	94041424	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:94041424C>G	ENST00000393151.2	+	17	2091	c.2091C>G	c.(2089-2091)atC>atG	p.I697M	UNC79_ENST00000256339.4_Missense_Mutation_p.I520M|UNC79_ENST00000555664.1_Missense_Mutation_p.I697M|UNC79_ENST00000553484.1_Missense_Mutation_p.I697M			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	697					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						AGTTAGATATCATGGTTCCAC	0.328																																						uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(1558-1560)ATC>ATG		hypothetical protein LOC57578							114.0	113.0	113.0					14																	94041424		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94041424C>G	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.2091C>G	14.37:g.94041424C>G	ENSP00000376858:p.Ile697Met					KIAA1409_uc001ybs.1_Missense_Mutation_p.I520M	p.I520M	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	14	1643	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	697					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1560C>G		.	.	.	.	.	.	.	.	.	.	C	16.42	3.117588	0.56505	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.33654	1.41;1.41;1.4;1.41	5.21	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	L	0.39245	1.2	0.40090	D	0.97624	D	0.65815	0.995	D	0.74674	0.984	T	0.48258	-0.9051	10	0.87932	D	0	-9.9096	2.5553	0.04758	0.293:0.5146:0.0:0.1924	.	697	C9JQL1	.	M	520;697;697;697;697	ENSP00000256339:I520M;ENSP00000450868:I697M;ENSP00000451360:I697M;ENSP00000376858:I697M	ENSP00000256339:I520M	I	+	3	3	KIAA1409	93111177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.935000	0.28924	2.573000	0.86826	0.655000	0.94253	ATC		0.328	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		9	20	0	0	0	0	9	20				
YY1	7528	broad.mit.edu	37	14	100743853	100743853	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:100743853C>T	ENST00000262238.4	+	5	1421	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F	AL157871.2_ENST00000553954.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	387	Binding to DNA.|Involved in masking transactivation domain.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				TGTGCCCCTTCGATGGTTGTA	0.458																																						uc001ygy.1		NA																	0					0						c.(1159-1161)TTC>TTT		YY1 transcription factor							111.0	99.0	103.0					14																	100743853		2203	4300	6503	SO:0001819	synonymous_variant	7528				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr14:100743853C>T	BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"""INO80 complex subunits"", ""Zinc fingers, C2H2-type"""	12856	protein-coding gene	gene with protein product	"""INO80 complex subunit S"", ""Yin and Yang 1 protein"""	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.1161C>T	14.37:g.100743853C>T						uc001ygz.1_5'Flank	p.F387F	NM_003403	NP_003394	P25490	TYY1_HUMAN			5	1641	+		Melanoma(154;0.152)	387			C2H2-type 4.|Involved in masking transactivation domain.		Q14935	Silent	SNP	ENST00000262238.4	37	c.1161C>T	CCDS9957.1	.	.	.	.	.	.	.	.	.	.	C	5.391	0.257279	0.10239	.	.	ENSG00000100811	ENST00000554804	.	.	.	5.87	4.97	0.65823	.	.	.	.	.	T	0.55097	0.1899	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52026	-0.8630	4	.	.	.	.	5.9329	0.19148	0.0:0.7532:0.0:0.2468	.	.	.	.	L	163	.	.	S	+	2	0	YY1	99813606	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.403000	0.44530	2.941000	0.99782	0.655000	0.94253	TCG		0.458	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318277.1	NM_003403		18	50	0	0	0	0	18	50				
RCOR1	23186	broad.mit.edu	37	14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:103174893G>A	ENST00000570597.1	+	6	743	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	RCOR1_ENST00000262241.6_Missense_Mutation_p.R251Q			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGCCATGCCCGGAAACAAAAA	0.463																																						uc001ymb.2		NA																	0				ovary(1)	1						c.(742-744)CGG>CAG		REST corepressor 1							122.0	132.0	129.0					14																	103174893		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174893G>A	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.743G>A	14.37:g.103174893G>A	ENSP00000459789:p.Arg248Gln						p.R248Q	NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN			6	743	+			248			Interaction with HDAC1.|Potential.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.743G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.433273	0.96150	.	.	ENSG00000089902	ENST00000262241	T	0.47869	0.83	5.88	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.39467	1.215	0.80722	D	1	P	0.44429	0.835	B	0.25405	0.06	T	0.35773	-0.9775	10	0.72032	D	0.01	-19.777	15.22	0.73303	0.0675:0.0:0.9325:0.0	.	248	Q9UKL0	RCOR1_HUMAN	Q	248	ENSP00000262241:R248Q	ENSP00000262241:R248Q	R	+	2	0	RCOR1	102244646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.441000	0.97557	1.487000	0.48415	0.655000	0.94253	CGG		0.463	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		4	144	0	0	0	0	4	144				
PPP1R13B	23368	broad.mit.edu	37	14	104245125	104245125	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:104245125C>G	ENST00000202556.9	-	4	593	c.311G>C	c.(310-312)aGa>aCa	p.R104T		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	104					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TATTACATTTCTCTGAGTTCG	0.363																																						uc001yof.1		NA																	0				ovary(1)	1						c.(310-312)AGA>ACA		apoptosis-stimulating protein of p53, 1							156.0	145.0	148.0					14																	104245125		1834	4096	5930	SO:0001583	missense	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104245125C>G	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.311G>C	14.37:g.104245125C>G	ENSP00000202556:p.Arg104Thr					PPP1R13B_uc001yog.1_5'UTR	p.R104T	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN			4	594	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	104					B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	c.311G>C	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822825	0.71028	.	.	ENSG00000088808	ENST00000202556;ENST00000555734;ENST00000553739	T;T	0.27890	1.64;1.64	5.69	5.69	0.88448	.	0.041769	0.85682	D	0.000000	T	0.33760	0.0874	L	0.49778	1.585	0.80722	D	1	B	0.15930	0.015	B	0.17098	0.017	T	0.07635	-1.0762	10	0.87932	D	0	.	17.9535	0.89061	0.0:1.0:0.0:0.0	.	104	Q96KQ4	ASPP1_HUMAN	T	104;101;133	ENSP00000202556:R104T;ENSP00000452376:R101T	ENSP00000202556:R104T	R	-	2	0	PPP1R13B	103314878	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	5.815000	0.69215	2.840000	0.97914	0.655000	0.94253	AGA		0.363	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		17	42	0	0	0	0	17	42				
BTBD6	90135	broad.mit.edu	37	14	105716079	105716079	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:105716079C>T	ENST00000392554.3	+	4	825	c.528C>T	c.(526-528)gtC>gtT	p.V176V	BTBD6_ENST00000463376.2_Silent_p.V101V|BRF1_ENST00000440513.3_Intron|BRF1_ENST00000327359.3_Intron|BRF1_ENST00000551787.1_5'Flank|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000392557.4_5'Flank|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000327471.3_Silent_p.V101V|BRF1_ENST00000446501.2_5'Flank|BRF1_ENST00000379932.4_5'Flank|BTBD6_ENST00000536364.1_Silent_p.V176V			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	176						cytoplasm (GO:0005737)				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		AAGCCTGTGTCAACTTTCTGG	0.567																																						uc010tyq.1		NA																	0					0						c.(526-528)GTC>GTT		BTB domain protein BDPL							59.0	61.0	60.0					14																	105716079		2202	4300	6502	SO:0001819	synonymous_variant	90135					cytoplasmic mRNA processing body		g.chr14:105716079C>T	AF353674	CCDS10002.1, CCDS10002.2	14q32.33	2013-01-08			ENSG00000184887	ENSG00000184887		"""BTB/POZ domain containing"""	19897	protein-coding gene	gene with protein product							Standard	NM_033271		Approved	BDPL	uc010tyq.2	Q96KE9	OTTHUMG00000029887	ENST00000392554.3:c.528C>T	14.37:g.105716079C>T						BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc010axg.1_Intron|BRF1_uc001yqp.2_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	p.V176V	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)	5	636	+		Melanoma(154;0.226)	176					Q8IVQ7|Q9BR94	Silent	SNP	ENST00000392554.3	37	c.528C>T	CCDS10002.2																																																																																				0.567	BTBD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074556.4			6	62	0	0	0	0	6	62				
BTBD6	90135	broad.mit.edu	37	14	105716585	105716585	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:105716585C>A	ENST00000392554.3	+	4	1331	c.1034C>A	c.(1033-1035)gCc>gAc	p.A345D	BTBD6_ENST00000463376.2_Missense_Mutation_p.A270D|BRF1_ENST00000440513.3_Intron|BRF1_ENST00000327359.3_Intron|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000392557.4_5'Flank|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.A270D|BRF1_ENST00000446501.2_5'Flank|BTBD6_ENST00000536364.1_Missense_Mutation_p.A345D			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	345						cytoplasm (GO:0005737)				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		CAGTCTTCTGCCTACCGCAGC	0.622																																						uc010tyq.1		NA																	0					0						c.(1033-1035)GCC>GAC		BTB domain protein BDPL							34.0	39.0	38.0					14																	105716585		2202	4298	6500	SO:0001583	missense	90135					cytoplasmic mRNA processing body		g.chr14:105716585C>A	AF353674	CCDS10002.1, CCDS10002.2	14q32.33	2013-01-08			ENSG00000184887	ENSG00000184887		"""BTB/POZ domain containing"""	19897	protein-coding gene	gene with protein product							Standard	NM_033271		Approved	BDPL	uc010tyq.2	Q96KE9	OTTHUMG00000029887	ENST00000392554.3:c.1034C>A	14.37:g.105716585C>A	ENSP00000376337:p.Ala345Asp					BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc010axg.1_Intron|BRF1_uc001yqp.2_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	p.A345D	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)	5	1142	+		Melanoma(154;0.226)	345					Q8IVQ7|Q9BR94	Missense_Mutation	SNP	ENST00000392554.3	37	c.1034C>A	CCDS10002.2	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844193	0.91197	.	.	ENSG00000184887	ENST00000536364;ENST00000537513;ENST00000392554;ENST00000327471	T;T;T;T	0.74737	-0.86;-0.87;-0.86;-0.74	5.03	5.03	0.67393	PHR (1);	0.000000	0.85682	D	0.000000	D	0.83105	0.5182	L	0.60012	1.86	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.82072	-0.0638	10	0.36615	T	0.2	-29.5313	15.8743	0.79151	0.0:1.0:0.0:0.0	.	345	Q96KE9	BTBD6_HUMAN	D	345;345;345;270	ENSP00000443091:A345D;ENSP00000446223:A345D;ENSP00000376337:A345D;ENSP00000329361:A270D	ENSP00000329361:A270D	A	+	2	0	BTBD6	104787630	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.658000	0.83755	2.322000	0.78497	0.563000	0.77884	GCC		0.622	BTBD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074556.4			18	57	1	0	3.53e-06	3.71e-06	18	57				
TUBGCP5	114791	broad.mit.edu	37	15	22850972	22850972	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:22850972C>T	ENST00000283645.4	+	11	1364	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Silent_p.L412L	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	412					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GCTCAAGGTTCTGCACAAAGT	0.448																																						uc001yur.3		NA																	0				skin(1)	1						c.(1234-1236)CTG>TTG		tubulin, gamma complex associated protein 5							163.0	147.0	152.0					15																	22850972		2203	4300	6503	SO:0001819	synonymous_variant	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22850972C>T	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1234C>T	15.37:g.22850972C>T						TUBGCP5_uc001yuq.2_Silent_p.L412L|TUBGCP5_uc010axz.1_5'UTR	p.L412L	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	11	1364	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	412					E9PB12|Q6IQ52|Q96PY8	Silent	SNP	ENST00000283645.4	37	c.1234C>T	CCDS10008.1																																																																																				0.448	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		21	43	0	0	0	0	21	43				
CYFIP1	23191	broad.mit.edu	37	15	22935917	22935917	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:22935917G>A	ENST00000313077.7	+	9	978	c.853G>A	c.(853-855)Gat>Aat	p.D285N	CYFIP1_ENST00000560848.1_Missense_Mutation_p.D285N	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CTATAAGTTGGATGCCAAGAA	0.368																																						uc001yus.2		NA																	0				ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(853-855)GAT>AAT		cytoplasmic FMR1 interacting protein 1 isoform							197.0	174.0	182.0					15																	22935917		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22935917G>A	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.853G>A	15.37:g.22935917G>A	ENSP00000324549:p.Asp285Asn					CYFIP1_uc001yut.2_Missense_Mutation_p.D285N|CYFIP1_uc010aya.1_Missense_Mutation_p.D313N	p.D285N	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	9	957	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	285						Missense_Mutation	SNP	ENST00000313077.7	37	c.853G>A	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578447	0.65878	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.43294	0.95	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.35566	0.0936	L	0.41710	1.295	0.80722	D	1	P;B	0.39665	0.682;0.004	B;B	0.34038	0.174;0.017	T	0.09250	-1.0683	10	0.27082	T	0.32	-17.7079	19.5328	0.95235	0.0:0.0:1.0:0.0	.	313;285	E7EQ04;Q7L576	.;CYFP1_HUMAN	N	285;313	ENSP00000324549:D285N	ENSP00000324549:D285N	D	+	1	0	CYFIP1	20487358	1.000000	0.71417	0.979000	0.43373	0.695000	0.40330	9.580000	0.98207	2.619000	0.88677	0.555000	0.69702	GAT		0.368	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		5	26	0	0	0	0	5	26				
HERC2	8924	broad.mit.edu	37	15	28463722	28463722	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:28463722G>A	ENST00000261609.7	-	38	6049	c.5941C>T	c.(5941-5943)Cat>Tat	p.H1981Y		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATCTCAGCATGAACTCCAGCA	0.458																																						uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(5941-5943)CAT>TAT		hect domain and RLD 2							103.0	110.0	107.0					15																	28463722		1390	2345	3735	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28463722G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5941C>T	15.37:g.28463722G>A	ENSP00000261609:p.His1981Tyr						p.H1981Y	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	38	6047	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1981						Missense_Mutation	SNP	ENST00000261609.7	37	c.5941C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	5.947	0.358811	0.11239	.	.	ENSG00000128731	ENST00000261609	T	0.41065	1.01	4.4	4.4	0.53042	.	0.132774	0.51477	D	0.000089	T	0.36166	0.0957	L	0.48642	1.525	0.49798	D	0.99982	B	0.02656	0.0	B	0.04013	0.001	T	0.17167	-1.0378	10	0.41790	T	0.15	.	12.6339	0.56673	0.0:0.0:0.8347:0.1653	.	1981	O95714	HERC2_HUMAN	Y	1981	ENSP00000261609:H1981Y	ENSP00000261609:H1981Y	H	-	1	0	HERC2	26137317	1.000000	0.71417	0.078000	0.20375	0.009000	0.06853	3.421000	0.52742	2.443000	0.82685	0.650000	0.86243	CAT		0.458	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		37	71	0	0	0	0	37	71				
TRPM1	4308	broad.mit.edu	37	15	31338418	31338418	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:31338418G>C	ENST00000256552.6	-	16	1930	c.1783C>G	c.(1783-1785)Ctg>Gtg	p.L595V	TRPM1_ENST00000397795.2_Missense_Mutation_p.L573V|TRPM1_ENST00000542188.1_Missense_Mutation_p.L612V	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCCATTCCCAGAAGTTTAAGA	0.313																																						uc001zfm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1717-1719)CTG>GTG		transient receptor potential cation channel,							79.0	74.0	76.0					15																	31338418		1807	4082	5889	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31338418G>C	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1783C>G	15.37:g.31338418G>C	ENSP00000256552:p.Leu595Val					TRPM1_uc010azy.2_Missense_Mutation_p.L480V|TRPM1_uc001zfl.2_RNA	p.L573V	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	15	1845	-		all_lung(180;1.92e-11)	573			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.1717C>G	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542010	0.65198	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.73469	-0.75;-0.75;-0.75	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000002	T	0.74658	0.3745	L	0.53249	1.67	0.52501	D	0.999954	P;P	0.47253	0.723;0.892	P;B	0.47915	0.561;0.358	T	0.77986	-0.2381	10	0.87932	D	0	-18.0804	12.0361	0.53425	0.0792:0.0:0.9208:0.0	.	567;573	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	V	573;612;595;573	ENSP00000380897:L573V;ENSP00000437849:L612V;ENSP00000256552:L595V	ENSP00000256552:L595V	L	-	1	2	TRPM1	29125710	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	3.850000	0.55918	2.405000	0.81733	0.557000	0.71058	CTG		0.313	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		11	25	0	0	0	0	11	25				
C15orf57	90416	broad.mit.edu	37	15	40849428	40849428	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:40849428C>G	ENST00000358005.3	-	3	661	c.388G>C	c.(388-390)Gat>Cat	p.D130H	C15orf57_ENST00000558750.1_Missense_Mutation_p.D139H|C15orf57_ENST00000561011.1_Missense_Mutation_p.D130H|C15orf57_ENST00000558113.1_Missense_Mutation_p.D130H|C15orf57_ENST00000416810.2_Missense_Mutation_p.D130H|C15orf57_ENST00000559911.1_Missense_Mutation_p.D130H|C15orf57_ENST00000560305.1_Missense_Mutation_p.D130H|RP11-111A22.1_ENST00000561460.1_RNA|C15orf57_ENST00000558871.1_Missense_Mutation_p.D130H	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	130										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						TCATCAGAATCAAGTCCATCC	0.438																																						uc001zmc.1		NA																	0				ovary(1)	1						c.(388-390)GAT>CAT		coiled-coil domain containing 32 isoform a							123.0	108.0	113.0					15																	40849428		2203	4300	6503	SO:0001583	missense	90416							g.chr15:40849428C>G	BC012189	CCDS10060.1, CCDS42022.1, CCDS73706.1	15q15.1	2008-05-30	2008-05-30	2008-05-30	ENSG00000128891	ENSG00000128891			28295	protein-coding gene	gene with protein product			"""coiled-coil domain containing 32"""	CCDC32		12477932	Standard	NM_001080791		Approved	MGC20481	uc001zma.1	Q9BV29	OTTHUMG00000129993	ENST00000358005.3:c.388G>C	15.37:g.40849428C>G	ENSP00000350695:p.Asp130His					uc001zlx.1_RNA|C15orf57_uc001zly.2_Missense_Mutation_p.D128H|C15orf57_uc001zma.1_Missense_Mutation_p.D139H|C15orf57_uc001zmb.1_Missense_Mutation_p.D130H|C15orf57_uc010bbr.2_Missense_Mutation_p.D128H	p.D130H	NM_001080792	NP_001074261	Q9BV29	CO057_HUMAN			3	478	-			130					A8KAL4|Q86TC4|Q8N788|Q8NAR7	Missense_Mutation	SNP	ENST00000358005.3	37	c.388G>C	CCDS10060.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400662	0.83120	.	.	ENSG00000128891	ENST00000358005;ENST00000416810	T	0.57595	0.39	5.7	5.7	0.88788	.	0.110418	0.64402	D	0.000011	T	0.64962	0.2646	L	0.38175	1.15	0.47621	D	0.999474	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.66351	0.943;0.943;0.943	T	0.65619	-0.6124	10	0.62326	D	0.03	-19.2659	19.8354	0.96655	0.0:1.0:0.0:0.0	.	130;139;130	Q9BV29;Q9BV29-2;Q9BV29-3	CO057_HUMAN;.;.	H	130;139	ENSP00000350695:D130H	ENSP00000350695:D130H	D	-	1	0	C15orf57	38636720	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.307000	0.65762	2.686000	0.91538	0.555000	0.69702	GAT		0.438	C15orf57-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252259.2	NM_052849		12	26	0	0	0	0	12	26				
MAP1A	4130	broad.mit.edu	37	15	43815940	43815940	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:43815940G>A	ENST00000300231.5	+	4	2719	c.2269G>A	c.(2269-2271)Gat>Aat	p.D757N	MAP1A_ENST00000399453.1_Missense_Mutation_p.D757N|MAP1A_ENST00000382031.1_Missense_Mutation_p.D995N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	757					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAGATCCATGATGAGCCGGA	0.562																																						uc001zrt.2		NA																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(2269-2271)GAT>AAT		microtubule-associated protein 1A	Estramustine(DB01196)						26.0	28.0	28.0					15																	43815940		2030	4173	6203	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43815940G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.2269G>A	15.37:g.43815940G>A	ENSP00000300231:p.Asp757Asn						p.D757N	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	2736	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	757					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.2269G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.533931	0.64972	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.48201	0.82;0.82;0.82	5.06	5.06	0.68205	.	0.000000	0.33290	N	0.005073	T	0.68550	0.3013	M	0.80183	2.485	0.58432	D	0.999998	D	0.67145	0.996	P	0.59948	0.866	T	0.73603	-0.3930	10	0.72032	D	0.01	-10.4515	18.6045	0.91262	0.0:0.0:1.0:0.0	.	757	P78559	MAP1A_HUMAN	N	995;757;757	ENSP00000371462:D995N;ENSP00000382380:D757N;ENSP00000300231:D757N	ENSP00000300231:D757N	D	+	1	0	MAP1A	41603232	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	9.259000	0.95561	2.617000	0.88574	0.563000	0.77884	GAT		0.562	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		11	16	0	0	0	0	11	16				
SLTM	79811	broad.mit.edu	37	15	59181735	59181735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:59181735C>T	ENST00000380516.2	-	16	2185	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Missense_Mutation_p.E269K	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	700	Arg/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						GCAATCCGTTCAGCTTCCTTA	0.408																																						uc002afp.2		NA																	0				ovary(1)	1						c.(2098-2100)GAA>AAA		modulator of estrogen induced transcription							209.0	173.0	185.0					15																	59181735		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59181735C>T	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.2098G>A	15.37:g.59181735C>T	ENSP00000369887:p.Glu700Lys					SLTM_uc002afn.2_Missense_Mutation_p.E242K|SLTM_uc002afo.2_Missense_Mutation_p.E682K|SLTM_uc002afq.2_Missense_Mutation_p.E269K|SLTM_uc010bgd.2_Missense_Mutation_p.E269K	p.E700K	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN			16	2186	-			700			Arg/Glu-rich.|Potential.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.2098G>A	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979642	0.74360	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.19250	2.16	5.62	5.62	0.85841	.	0.000000	0.53938	D	0.000045	T	0.48554	0.1506	M	0.71036	2.16	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.77557	0.985;0.99	T	0.37454	-0.9705	10	0.49607	T	0.09	.	19.6547	0.95831	0.0:1.0:0.0:0.0	.	700;269	Q9NWH9;A8K5V8	SLTM_HUMAN;.	K	700;266;269	ENSP00000369887:E700K	ENSP00000369887:E700K	E	-	1	0	SLTM	56969027	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	7.449000	0.80643	2.661000	0.90470	0.655000	0.94253	GAA		0.408	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		14	23	0	0	0	0	14	23				
VPS13C	54832	broad.mit.edu	37	15	62228879	62228879	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:62228879G>A	ENST00000261517.5	-	48	5745	c.5672C>T	c.(5671-5673)tCa>tTa	p.S1891L	VPS13C_ENST00000249837.3_Missense_Mutation_p.S1848L|VPS13C_ENST00000395898.3_Missense_Mutation_p.S1848L|VPS13C_ENST00000395896.4_Missense_Mutation_p.S1891L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCTTGGTTGTGAGGAAGCTTC	0.373																																						uc002agz.2		NA																	0				ovary(2)	2						c.(5671-5673)TCA>TTA		vacuolar protein sorting 13C protein isoform 2A							62.0	63.0	63.0					15																	62228879		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62228879G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.5672C>T	15.37:g.62228879G>A	ENSP00000261517:p.Ser1891Leu					VPS13C_uc002aha.2_Missense_Mutation_p.S1848L|VPS13C_uc002ahb.1_Missense_Mutation_p.S1891L|VPS13C_uc002ahc.1_Missense_Mutation_p.S1848L	p.S1891L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			48	5746	-			1891						Missense_Mutation	SNP	ENST00000261517.5	37	c.5672C>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811348	0.50527	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.17370	2.28;2.28;2.28	5.81	3.62	0.41486	.	0.679345	0.14556	N	0.312395	T	0.17534	0.0421	L	0.49350	1.555	0.43390	D	0.995504	B;B;B;B	0.10296	0.0;0.001;0.001;0.003	B;B;B;B	0.10450	0.003;0.003;0.005;0.005	T	0.03112	-1.1071	10	0.44086	T	0.13	.	11.0987	0.48161	0.1684:0.0:0.8316:0.0	.	1848;1891;1848;1891	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	1848;1891;1891;1891	ENSP00000249837:S1848L;ENSP00000261517:S1891L;ENSP00000379233:S1891L	ENSP00000249837:S1848L	S	-	2	0	VPS13C	60016171	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.672000	0.46850	1.465000	0.48006	0.655000	0.94253	TCA		0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		8	18	0	0	0	0	8	18				
PLEKHO2	80301	broad.mit.edu	37	15	65152104	65152104	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:65152104C>G	ENST00000323544.4	+	4	419	c.291C>G	c.(289-291)atC>atG	p.I97M	AC069368.3_ENST00000437723.1_Missense_Mutation_p.I97M	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	97	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCAGCGACATCAAATTCCAGG	0.488																																						uc002anv.2		NA																	0				ovary(1)|lung(1)	2						c.(289-291)ATC>ATG		pleckstrin homology domain containing, family O							190.0	182.0	185.0					15																	65152104		2202	4299	6501	SO:0001583	missense	80301							g.chr15:65152104C>G	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.291C>G	15.37:g.65152104C>G	ENSP00000326706:p.Ile97Met					PLEKHO2_uc010bgz.2_Intron|PLEKHO2_uc002anw.2_Missense_Mutation_p.I47M	p.I97M	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN			4	425	+			97			PH.		Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	c.291C>G	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994985	0.54041	.	.	ENSG00000249240;ENSG00000241839;ENSG00000241839	ENST00000437723;ENST00000323544;ENST00000546008	T;T	0.76448	-1.02;-1.02	5.73	5.73	0.89815	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.355674	0.31415	N	0.007692	T	0.76205	0.3955	N	0.11064	0.09	0.45295	D	0.99829	D;D	0.58268	0.977;0.982	P;P	0.60473	0.803;0.875	T	0.79720	-0.1685	10	0.51188	T	0.08	.	17.0379	0.86481	0.0:1.0:0.0:0.0	.	47;97	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	M	97	ENSP00000397942:I97M;ENSP00000326706:I97M	ENSP00000397942:I97M	I	+	3	3	PLEKHO2;AC069368.3	62939157	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	2.226000	0.42963	2.693000	0.91896	0.561000	0.74099	ATC		0.488	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		37	157	0	0	0	0	37	157				
UACA	55075	broad.mit.edu	37	15	70959538	70959538	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:70959538G>C	ENST00000322954.6	-	16	3670	c.3485C>G	c.(3484-3486)tCt>tGt	p.S1162C	UACA_ENST00000379983.2_Missense_Mutation_p.S1149C|UACA_ENST00000560441.1_Missense_Mutation_p.S1147C|UACA_ENST00000539319.1_Missense_Mutation_p.S1053C	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1162					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GGGTACAGAAGAGTTCTTTTG	0.398																																						uc002asr.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(3484-3486)TCT>TGT		uveal autoantigen with coiled-coil domains and							159.0	160.0	160.0					15																	70959538		2199	4297	6496	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70959538G>C	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3485C>G	15.37:g.70959538G>C	ENSP00000314556:p.Ser1162Cys					UACA_uc010uke.1_Missense_Mutation_p.S1053C|UACA_uc002asq.2_Missense_Mutation_p.S1149C|UACA_uc010bin.1_Missense_Mutation_p.S1137C	p.S1162C	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			16	3589	-			1162			Potential.		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.3485C>G	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	G	9.752	1.167664	0.21621	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.38240	1.15;1.17;1.64	5.66	4.75	0.60458	.	0.000000	0.64402	D	0.000012	T	0.56529	0.1991	M	0.72118	2.19	0.20074	N	0.999937	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.975;0.969;0.969;0.999	T	0.51593	-0.8686	10	0.72032	D	0.01	-10.0267	10.2184	0.43182	0.0712:0.1356:0.7932:0.0	.	1053;1162;1162;1149	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	C	1162;1149;1053	ENSP00000314556:S1162C;ENSP00000369319:S1149C;ENSP00000438667:S1053C	ENSP00000314556:S1162C	S	-	2	0	UACA	68746592	0.896000	0.30565	0.706000	0.30403	0.027000	0.11550	4.384000	0.59607	1.396000	0.46663	-0.140000	0.14226	TCT		0.398	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			64	134	0	0	0	0	64	134				
GRAMD2	196996	broad.mit.edu	37	15	72460095	72460095	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:72460095G>T	ENST00000309731.7	-	5	367	c.354C>A	c.(352-354)ctC>ctA	p.L118L	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	118	GRAM.					integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CCTTGCCAAAGAGGCTGGCAT	0.597																																						uc002atq.2		NA																	0					0						c.(352-354)CTC>CTA		GRAM domain containing 2							86.0	79.0	82.0					15																	72460095		2199	4297	6496	SO:0001819	synonymous_variant	196996					integral to membrane		g.chr15:72460095G>T	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.354C>A	15.37:g.72460095G>T						GRAMD2_uc010bis.2_Silent_p.L118L	p.L118L	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN			5	378	-			118			GRAM.		B3KT68	Silent	SNP	ENST00000309731.7	37	c.354C>A	CCDS32283.1																																																																																				0.597	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642		16	63	1	0	6.94e-10	7.45e-10	16	63				
CELF6	60677	broad.mit.edu	37	15	72582528	72582528	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:72582528G>A	ENST00000569547.1	-	4	534	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	CELF6_ENST00000287202.5_Nonsense_Mutation_p.Q155*|CELF6_ENST00000395258.2_Nonsense_Mutation_p.Q42*|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000543764.2_Nonsense_Mutation_p.Q40*|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000567083.1_Nonsense_Mutation_p.Q155*|CELF6_ENST00000569311.1_5'UTR|CELF6_ENST00000539635.1_Nonsense_Mutation_p.Q16*			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	155	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CCAAAGGGCTGGAACAGGCGT	0.617																																						uc002auh.2		NA																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(463-465)CAG>TAG		bruno-like 6, RNA binding protein							81.0	67.0	72.0					15																	72582528		2199	4297	6496	SO:0001587	stop_gained	60677				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr15:72582528G>A	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.463C>T	15.37:g.72582528G>A	ENSP00000454749:p.Gln155*					uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_Nonsense_Mutation_p.Q42*|CELF6_uc010ukl.1_Nonsense_Mutation_p.Q40*|CELF6_uc010ukm.1_Nonsense_Mutation_p.Q155*|CELF6_uc002aui.2_Nonsense_Mutation_p.Q261*|CELF6_uc002auj.2_Nonsense_Mutation_p.Q42*	p.Q155*	NM_052840	NP_443072	Q96J87	CELF6_HUMAN			4	773	-			155			RRM 2.		B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Nonsense_Mutation	SNP	ENST00000569547.1	37	c.463C>T	CCDS10242.1	.	.	.	.	.	.	.	.	.	.	G	35	5.440617	0.96168	.	.	ENSG00000140488	ENST00000287202;ENST00000437872;ENST00000543764;ENST00000395258;ENST00000539635	.	.	.	5.41	4.47	0.54385	.	0.076814	0.50627	U	0.000101	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-10.598	13.9013	0.63806	0.0:0.2246:0.7753:0.0	.	.	.	.	X	155;155;40;42;16	.	ENSP00000287202:Q155X	Q	-	1	0	CELF6	70369582	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.264000	0.65513	2.546000	0.85860	0.561000	0.74099	CAG		0.617	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840		12	27	0	0	0	0	12	27				
HEXA	3073	broad.mit.edu	37	15	72643480	72643480	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:72643480C>A	ENST00000268097.5	-	6	1169	c.666G>T	c.(664-666)atG>atT	p.M222I	HEXA_ENST00000429918.2_Missense_Mutation_p.M49I|HEXA_ENST00000457859.2_Missense_Mutation_p.M30I|HEXA_ENST00000566304.1_Missense_Mutation_p.M233I|HEXA_ENST00000567159.1_Missense_Mutation_p.M222I|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	222					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						ATACCTTTCTCATGAGCTCTG	0.468																																						uc002aun.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(664-666)ATG>ATT		hexosaminidase A preproprotein							146.0	115.0	126.0					15																	72643480		2199	4297	6496	SO:0001583	missense	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72643480C>A	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.666G>T	15.37:g.72643480C>A	ENSP00000268097:p.Met222Ile					uc002aug.2_RNA|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.1_Missense_Mutation_p.M233I|HEXA_uc002auo.3_Missense_Mutation_p.M85I|HEXA_uc010bix.2_Missense_Mutation_p.M222I|HEXA_uc010biy.2_Missense_Mutation_p.M85I|HEXA_uc010uko.1_Missense_Mutation_p.M48I|HEXA_uc010biz.1_RNA	p.M222I	NM_000520	NP_000511	P06865	HEXA_HUMAN			6	873	-			222					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	c.666G>T	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844626	0.51164	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	D;D;D	0.95377	-3.69;-3.69;-3.69	5.78	2.84	0.33178	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.309717	0.33309	N	0.005043	T	0.80899	0.4712	N	0.00583	-1.355	0.24928	N	0.991931	B;B;B;B;B	0.12013	0.0;0.002;0.0;0.0;0.005	B;B;B;B;B	0.12156	0.002;0.004;0.002;0.0;0.007	T	0.74386	-0.3682	10	0.62326	D	0.03	-8.9718	4.2017	0.10469	0.1351:0.1296:0.605:0.1303	.	49;233;49;102;222	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865	.;.;.;.;HEXA_HUMAN	I	222;30;49	ENSP00000268097:M222I;ENSP00000398026:M30I;ENSP00000416187:M49I	ENSP00000268097:M222I	M	-	3	0	HEXA	70430534	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	2.219000	0.42899	0.336000	0.23639	-0.839000	0.03059	ATG		0.468	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		10	38	1	0	7.04e-09	7.52e-09	10	38				
BBS4	585	broad.mit.edu	37	15	73002044	73002044	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:73002044C>T	ENST00000268057.4	+	3	121	c.80C>T	c.(79-81)cCa>cTa	p.P27L	BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.P15L|BBS4_ENST00000395205.2_Missense_Mutation_p.P35L	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	27	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TGCCTAGCTCCAGAGTTTCCT	0.358									Bardet-Biedl syndrome																													uc002avb.2		NA																	0					0						c.(79-81)CCA>CTA		Bardet-Biedl syndrome 4							142.0	142.0	142.0					15																	73002044		2198	4297	6495	SO:0001583	missense	585	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73002044C>T	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.80C>T	15.37:g.73002044C>T	ENSP00000268057:p.Pro27Leu					BBS4_uc010ukv.1_Missense_Mutation_p.P15L|BBS4_uc002avc.2_5'UTR|BBS4_uc002avd.2_Missense_Mutation_p.P35L	p.P27L	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN			3	123	+			27			Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.80C>T	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735278	0.69189	.	.	ENSG00000140463	ENST00000268057;ENST00000539603;ENST00000395205	T;T;T	0.52057	0.68;0.68;0.68	4.63	1.44	0.22558	.	0.163360	0.56097	N	0.000034	T	0.46308	0.1386	M	0.80422	2.495	0.80722	D	1	B;B;B	0.19445	0.028;0.036;0.003	B;B;B	0.24848	0.052;0.056;0.006	T	0.45041	-0.9288	10	0.72032	D	0.01	-2.39	5.8287	0.18568	0.338:0.5685:0.0:0.0935	.	15;35;27	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	L	27;15;35	ENSP00000268057:P27L;ENSP00000442492:P15L;ENSP00000378631:P35L	ENSP00000268057:P27L	P	+	2	0	BBS4	70789097	0.998000	0.40836	0.996000	0.52242	0.982000	0.71751	2.300000	0.43620	0.376000	0.24707	0.655000	0.94253	CCA		0.358	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		25	90	0	0	0	0	25	90				
CHRNA3	1136	broad.mit.edu	37	15	78894511	78894511	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:78894511G>T	ENST00000326828.5	-	5	857	c.473C>A	c.(472-474)tCc>tAc	p.S158Y	CHRNA3_ENST00000348639.3_Missense_Mutation_p.S158Y	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	158					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	GATTTTACAGGAGCTCTTAAA	0.493																																						uc002bec.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(472-474)TCC>TAC		cholinergic receptor, nicotinic, alpha 3							125.0	119.0	121.0					15																	78894511		2196	4293	6489	SO:0001583	missense	1136				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78894511G>T		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.473C>A	15.37:g.78894511G>T	ENSP00000315602:p.Ser158Tyr					CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.S158Y	p.S158Y	NM_000743	NP_000734	P32297	ACHA3_HUMAN			5	659	-			158			Extracellular (Potential).		Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	ENST00000326828.5	37	c.473C>A	CCDS10305.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.291131	0.59976	.	.	ENSG00000080644	ENST00000348639;ENST00000326828;ENST00000326858	T;T	0.80653	-1.4;-1.4	6.17	6.17	0.99709	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.91369	0.7277	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90084	0.4172	10	0.48119	T	0.1	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	158;158	P32297;P32297-3	ACHA3_HUMAN;.	Y	158;158;22	ENSP00000267951:S158Y;ENSP00000315602:S158Y	ENSP00000315602:S158Y	S	-	2	0	CHRNA3	76681566	1.000000	0.71417	0.974000	0.42286	0.303000	0.27691	9.860000	0.99555	2.941000	0.99782	0.655000	0.94253	TCC		0.493	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			6	93	1	0	3.6e-05	3.76e-05	6	93				
RASGRF1	5923	broad.mit.edu	37	15	79296198	79296198	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:79296198C>T	ENST00000419573.3	-	16	2717	c.2443G>A	c.(2443-2445)Gag>Aag	p.E815K	RASGRF1_ENST00000558480.2_Missense_Mutation_p.E799K|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Missense_Mutation_p.E31K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	815					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTATCGCCCTCATCTGGAATC	0.607																																						uc002beq.2		NA																	0				skin(4)|ovary(1)|central_nervous_system(1)	6						c.(2443-2445)GAG>AAG		Ras protein-specific guanine							57.0	47.0	51.0					15																	79296198		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79296198C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2443G>A	15.37:g.79296198C>T	ENSP00000405963:p.Glu815Lys					RASGRF1_uc002bep.2_Missense_Mutation_p.E799K|RASGRF1_uc010blm.1_Missense_Mutation_p.E724K|RASGRF1_uc002ber.3_Missense_Mutation_p.E799K|RASGRF1_uc010unh.1_Missense_Mutation_p.E210K|RASGRF1_uc002beo.2_Missense_Mutation_p.E31K	p.E815K	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			16	2818	-			817					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.2443G>A	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644510	0.67358	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.59772	0.24;0.4	4.97	4.97	0.65823	Ras guanine nucleotide exchange factor, domain (1);	0.193416	0.43747	D	0.000528	T	0.50786	0.1636	L	0.51422	1.61	0.80722	D	1	B;B;B;B;B	0.33022	0.224;0.304;0.204;0.394;0.134	B;B;B;B;B	0.30316	0.076;0.05;0.05;0.114;0.028	T	0.49244	-0.8960	10	0.26408	T	0.33	.	15.7135	0.77649	0.0:1.0:0.0:0.0	.	211;815;799;817;799	B7Z6Z6;A8K270;Q8IUU5;Q13972;F8VPA5	.;.;.;RGRF1_HUMAN;.	K	815;799;31	ENSP00000405963:E815K;ENSP00000378228:E31K	ENSP00000378224:E799K	E	-	1	0	RASGRF1	77083253	1.000000	0.71417	0.337000	0.25536	0.621000	0.37620	7.590000	0.82653	2.290000	0.77057	0.491000	0.48974	GAG		0.607	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		14	38	0	0	0	0	14	38				
HOMER2	9455	broad.mit.edu	37	15	83518566	83518566	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:83518566C>T	ENST00000304231.8	-	9	1158	c.966G>A	c.(964-966)ctG>ctA	p.L322L	HOMER2_ENST00000450735.2_Silent_p.L311L|HOMER2_ENST00000399166.2_Silent_p.L256L|HOMER2_ENST00000426485.1_Silent_p.L267L	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	322					behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				cervix(1)|endometrium(2)|lung(6)	9						ACTCCACCTTCAGGTGGCGCT	0.547											OREG0023389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002bjg.2		NA																	0					0						c.(964-966)CTG>CTA		homer 2 isoform 2							78.0	81.0	80.0					15																	83518566		1966	4153	6119	SO:0001819	synonymous_variant	9455				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr15:83518566C>T	AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.966G>A	15.37:g.83518566C>T			OREG0023389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1222	HOMER2_uc002bjh.2_Silent_p.L311L|HOMER2_uc002bjj.2_Silent_p.L256L|HOMER2_uc002bji.2_Silent_p.L267L	p.L322L	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN			9	1152	-			322			Potential.		O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Silent	SNP	ENST00000304231.8	37	c.966G>A	CCDS45334.1																																																																																				0.547	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418689.1			28	55	0	0	0	0	28	55				
BTBD1	53339	broad.mit.edu	37	15	83687528	83687528	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:83687528G>A	ENST00000261721.4	-	7	1423	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.S378L	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	407					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		ACATGACCCTGAATGTGTTAG	0.418																																						uc002bjn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1219-1221)TTC>TTT		BTB (POZ) domain containing 1 isoform 1							186.0	151.0	163.0					15																	83687528		2203	4300	6503	SO:0001819	synonymous_variant	53339					cytoplasmic mRNA processing body|protein complex	protein binding	g.chr15:83687528G>A	AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.1221C>T	15.37:g.83687528G>A						BTBD1_uc002bjo.2_Missense_Mutation_p.S378L	p.F407F	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN		all cancers(203;0.000186)	7	1424	-			407					A6NMI8|Q9BX71|Q9NWN4	Silent	SNP	ENST00000261721.4	37	c.1221C>T	CCDS10322.1	.	.	.	.	.	.	.	.	.	.	G	7.983	0.751648	0.15778	.	.	ENSG00000064726	ENST00000379403	T	0.76186	-1.0	5.23	4.3	0.51218	.	.	.	.	.	T	0.62332	0.2419	.	.	.	0.27237	N	0.959258	B	0.06786	0.001	B	0.06405	0.002	T	0.52230	-0.8603	8	0.39692	T	0.17	-16.2956	10.3733	0.44066	0.1507:0.0:0.8493:0.0	.	378	A6NMI8	.	L	378	ENSP00000368713:S378L	ENSP00000368713:S378L	S	-	2	0	BTBD1	81478532	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.962000	0.63687	2.450000	0.82876	0.563000	0.77884	TCA		0.418	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1			13	48	0	0	0	0	13	48				
ALPK3	57538	broad.mit.edu	37	15	85370749	85370749	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:85370749G>C	ENST00000258888.5	+	3	990	c.823G>C	c.(823-825)Gag>Cag	p.E275Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	275					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCAGCTCACAGAGGAGACCCA	0.562																																						uc002ble.2		NA																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(823-825)GAG>CAG		alpha-kinase 3							90.0	69.0	76.0					15																	85370749		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85370749G>C	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.823G>C	15.37:g.85370749G>C	ENSP00000258888:p.Glu275Gln						p.E275Q	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		3	990	+			275					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.823G>C	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919166	0.92249	.	.	ENSG00000136383	ENST00000258888	T	0.63255	-0.03	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.70500	0.3231	L	0.29908	0.895	0.43050	D	0.994657	D	0.89917	1.0	D	0.83275	0.996	T	0.73742	-0.3887	10	0.66056	D	0.02	-28.279	16.7148	0.85395	0.0:0.0:1.0:0.0	.	275	Q96L96	ALPK3_HUMAN	Q	275	ENSP00000258888:E275Q	ENSP00000258888:E275Q	E	+	1	0	ALPK3	83171753	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.619000	0.90938	2.534000	0.85438	0.655000	0.94253	GAG		0.562	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		6	46	0	0	0	0	6	46				
ALPK3	57538	broad.mit.edu	37	15	85405874	85405874	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:85405874G>A	ENST00000258888.5	+	10	4911	c.4744G>A	c.(4744-4746)Gag>Aag	p.E1582K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1582					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGTTGGAGAAGAGATTGAGAT	0.572																																						uc002ble.2		NA																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(4744-4746)GAG>AAG		alpha-kinase 3							63.0	59.0	60.0					15																	85405874		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85405874G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4744G>A	15.37:g.85405874G>A	ENSP00000258888:p.Glu1582Lys					ALPK3_uc010upc.1_5'Flank	p.E1582K	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		10	4911	+			1582					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.4744G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137512	0.94517	.	.	ENSG00000136383	ENST00000258888	T	0.07021	3.23	4.97	4.97	0.65823	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.19685	0.0473	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.00561	-1.1670	10	0.87932	D	0	-27.6858	15.7728	0.78184	0.0:0.0:1.0:0.0	.	1582	Q96L96	ALPK3_HUMAN	K	1582	ENSP00000258888:E1582K	ENSP00000258888:E1582K	E	+	1	0	ALPK3	83206878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.074000	0.93998	2.578000	0.87016	0.655000	0.94253	GAG		0.572	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		19	58	0	0	0	0	19	58				
ALPK3	57538	broad.mit.edu	37	15	85407691	85407691	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:85407691G>A	ENST00000258888.5	+	12	5291	c.5124G>A	c.(5122-5124)ctG>ctA	p.L1708L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1708	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CACTGTATCTGATCTACCGGC	0.527																																						uc002ble.2		NA																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(5122-5124)CTG>CTA		alpha-kinase 3							99.0	88.0	92.0					15																	85407691		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85407691G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5124G>A	15.37:g.85407691G>A						ALPK3_uc010upc.1_Silent_p.L9L	p.L1708L	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		12	5291	+			1708			Alpha-type protein kinase.		Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.5124G>A	CCDS10333.1																																																																																				0.527	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		35	59	0	0	0	0	35	59				
AKAP13	11214	broad.mit.edu	37	15	86118486	86118486	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:86118486C>G	ENST00000394518.2	+	6	882	c.787C>G	c.(787-789)Cat>Gat	p.H263D	AKAP13_ENST00000361243.2_Missense_Mutation_p.H263D	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	263					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGATTCACATCATGAACACCC	0.393																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1		NA																	0				central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(787-789)CAT>GAT		A-kinase anchor protein 13 isoform 2							160.0	148.0	152.0					15																	86118486		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86118486C>G	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.787C>G	15.37:g.86118486C>G	ENSP00000378026:p.His263Asp					AKAP13_uc002blt.1_Missense_Mutation_p.H263D|AKAP13_uc002blu.1_Missense_Mutation_p.H263D	p.H263D	NM_007200	NP_009131	Q12802	AKP13_HUMAN			6	957	+			263					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.787C>G	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291137	0.23564	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.58797	0.31;0.31	5.14	0.896	0.19253	.	.	.	.	.	T	0.32315	0.0825	N	0.08118	0	0.09310	N	1	B;B	0.18968	0.019;0.032	B;B	0.21917	0.017;0.037	T	0.19976	-1.0289	9	0.35671	T	0.21	.	4.6035	0.12364	0.0:0.5746:0.1611:0.2643	.	263;263	Q12802;Q12802-2	AKP13_HUMAN;.	D	263;263;262;262	ENSP00000354718:H263D;ENSP00000378026:H263D	ENSP00000354718:H263D	H	+	1	0	AKAP13	83919490	0.000000	0.05858	0.001000	0.08648	0.750000	0.42670	0.127000	0.15790	0.413000	0.25759	-0.137000	0.14449	CAT		0.393	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		33	91	0	0	0	0	33	91				
TICRR	90381	broad.mit.edu	37	15	90144539	90144539	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:90144539C>G	ENST00000268138.7	+	10	2269	c.2164C>G	c.(2164-2166)Cag>Gag	p.Q722E	TICRR_ENST00000560985.1_Missense_Mutation_p.Q721E			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	722					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)										GTGCCAGCTTCAGGTATTTCT	0.373																																						uc002boe.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(2164-2166)CAG>GAG		leucine-rich repeat kinase 1							101.0	97.0	99.0					15																	90144539		1865	4102	5967	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.chr15:90144539C>G	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.2164C>G	15.37:g.90144539C>G	ENSP00000268138:p.Gln722Glu						p.Q722E	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		10	2164	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		722					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.2164C>G	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665369	0.88251	.	.	ENSG00000140534	ENST00000268138	T	0.30981	1.51	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	M	0.73962	2.25	0.54753	D	0.999983	D	0.61697	0.99	P	0.59643	0.861	T	0.56523	-0.7965	10	0.87932	D	0	-10.437	18.0301	0.89281	0.0:1.0:0.0:0.0	.	722	Q7Z2Z1	TICRR_HUMAN	E	722	ENSP00000268138:Q722E	ENSP00000268138:Q722E	Q	+	1	0	C15orf42	87945543	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.037000	0.76531	2.779000	0.95612	0.591000	0.81541	CAG		0.373	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		6	34	0	0	0	0	6	34				
CRTC3	64784	broad.mit.edu	37	15	91161162	91161162	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:91161162C>T	ENST00000268184.6	+	8	665	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S	CRTC3_ENST00000420329.2_Missense_Mutation_p.P221S|RP11-387D10.2_ENST00000559531.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	221					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GTTAAATGTTCCGAAGCCACT	0.438			T	MAML2	salivary gland mucoepidermoid																																	uc002bpp.2		NA		Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				salivary_gland(26)|ovary(1)	27						c.(661-663)CCG>TCG		transducer of regulated CREB protein 3 isoform							89.0	80.0	83.0					15																	91161162		2198	4298	6496	SO:0001583	missense	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91161162C>T		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.661C>T	15.37:g.91161162C>T	ENSP00000268184:p.Pro221Ser					CRTC3_uc002bpo.2_Missense_Mutation_p.P221S	p.P221S	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		8	767	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		221					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	c.661C>T	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399497	0.25291	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.40476	1.03;1.03	4.98	4.98	0.66077	Transducer of regulated CREB activity, middle domain (1);	0.455157	0.24126	N	0.041308	T	0.36608	0.0973	L	0.40543	1.245	0.35123	D	0.767216	B;B	0.32968	0.392;0.34	B;B	0.40982	0.345;0.234	T	0.36335	-0.9752	10	0.12766	T	0.61	-24.9924	10.7916	0.46436	0.1888:0.8112:0.0:0.0	.	221;221	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	S	185;221;221	ENSP00000268184:P221S;ENSP00000416573:P221S	ENSP00000268184:P221S	P	+	1	0	CRTC3	88962166	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.123000	0.50453	2.573000	0.86826	0.467000	0.42956	CCG		0.438	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		12	47	0	0	0	0	12	47				
MAN2A2	4122	broad.mit.edu	37	15	91448544	91448544	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:91448544G>T	ENST00000559717.1	+	3	655	c.196G>T	c.(196-198)Gag>Tag	p.E66*	MAN2A2_ENST00000360468.3_Nonsense_Mutation_p.E66*|MAN2A2_ENST00000431652.2_5'Flank			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	66					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGAGAACCATGAGATTATCAG	0.547																																						uc010bnz.2		NA																	0				large_intestine(2)|ovary(1)	3						c.(196-198)GAG>TAG		mannosidase, alpha, class 2A, member 2							68.0	70.0	69.0					15																	91448544		2198	4298	6496	SO:0001587	stop_gained	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91448544G>T	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.196G>T	15.37:g.91448544G>T	ENSP00000452948:p.Glu66*					MAN2A2_uc010boa.2_Nonsense_Mutation_p.E108*|MAN2A2_uc002bqc.2_Nonsense_Mutation_p.E66*|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank	p.E66*	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		3	311	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		66			Lumenal (Potential).		A6NH12|A8K1E8|Q13754	Nonsense_Mutation	SNP	ENST00000559717.1	37	c.196G>T	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189447	0.94923	.	.	ENSG00000196547	ENST00000360468	.	.	.	5.9	5.9	0.94986	.	0.154467	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-28.5337	19.9539	0.97212	0.0:0.0:1.0:0.0	.	.	.	.	X	66	.	ENSP00000353655:E66X	E	+	1	0	MAN2A2	89249548	1.000000	0.71417	0.983000	0.44433	0.993000	0.82548	6.873000	0.75541	2.821000	0.97095	0.555000	0.69702	GAG		0.547	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		25	83	1	0	1.55e-16	1.69e-16	25	83				
IGF1R	3480	broad.mit.edu	37	15	99459287	99459287	+	Silent	SNP	G	G	C	rs529006369		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:99459287G>C	ENST00000268035.6	+	9	2534	c.1923G>C	c.(1921-1923)ctG>ctC	p.L641L	IGF1R_ENST00000558762.1_Silent_p.L641L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	641	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	ACGGCAACCTGAGTTACTACA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18169	0.0		0.0	False		,,,				2504	0.001					uc002bul.2		NA																	0				lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8						c.(1921-1923)CTG>CTC		insulin-like growth factor 1 receptor precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						111.0	106.0	108.0					15																	99459287		2197	4297	6494	SO:0001819	synonymous_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99459287G>C	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1923G>C	15.37:g.99459287G>C						IGF1R_uc010urq.1_Silent_p.L641L|IGF1R_uc010bon.2_Silent_p.L641L|IGF1R_uc010urr.1_Silent_p.L91L	p.L641L	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		9	1973	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		641			Fibronectin type-III 2.		B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	c.1923G>C	CCDS10378.1																																																																																				0.557	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		33	105	0	0	0	0	33	105				
CERS3	204219	broad.mit.edu	37	15	100943007	100943007	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:100943007C>G	ENST00000394113.1	-	14	1753	c.1063G>C	c.(1063-1065)Gag>Cag	p.E355Q	CERS3_ENST00000538112.2_Missense_Mutation_p.E355Q|RP11-168G16.2_ENST00000560718.1_RNA|CERS3_ENST00000560944.1_5'UTR|CERS3_ENST00000284382.4_Missense_Mutation_p.E355Q|RP11-168G16.2_ENST00000560643.1_RNA			Q8IU89	CERS3_HUMAN	ceramide synthase 3	355	Poly-Glu.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TTGGTAGcctcttcttcttcc	0.483																																						uc002bvz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1063-1065)GAG>CAG		LAG1 longevity assurance homolog 3							142.0	107.0	119.0					15																	100943007		2203	4300	6503	SO:0001583	missense	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:100943007C>G		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.1063G>C	15.37:g.100943007C>G	ENSP00000377672:p.Glu355Gln					LASS3_uc002bwa.2_Missense_Mutation_p.E366Q|LASS3_uc002bwb.2_Missense_Mutation_p.E355Q	p.E355Q	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)		13	1565	-	Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852)		355			Poly-Glu.		Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	c.1063G>C	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	8.647	0.897386	0.17686	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	T;T	0.07567	3.18;3.18	4.97	3.08	0.35506	.	1.122840	0.06768	N	0.782947	T	0.07052	0.0179	L	0.35341	1.055	0.09310	N	1	P	0.34522	0.455	B	0.24701	0.055	T	0.38178	-0.9673	10	0.44086	T	0.13	-3.1081	7.7968	0.29152	0.0:0.8045:0.0:0.1955	.	355	Q8IU89	CERS3_HUMAN	Q	355;366;355	ENSP00000284382:E355Q;ENSP00000437640:E355Q	ENSP00000284382:E355Q	E	-	1	0	CERS3	98760530	0.608000	0.26966	0.001000	0.08648	0.005000	0.04900	3.417000	0.52714	0.606000	0.29965	-0.150000	0.13652	GAG		0.483	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		7	23	0	0	0	0	7	23				
MAPK8IP3	23162	broad.mit.edu	37	16	1797130	1797130	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:1797130C>T	ENST00000250894.4	+	6	1002	c.845C>T	c.(844-846)tCg>tTg	p.S282L	MAPK8IP3_ENST00000568271.1_3'UTR|MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.S282L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	282					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCCGTGCCCTCGGCCGCCGTC	0.672																																						uc002cmk.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(844-846)TCG>TTG		mitogen-activated protein kinase 8 interacting							52.0	74.0	66.0					16																	1797130		2138	4256	6394	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1797130C>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.845C>T	16.37:g.1797130C>T	ENSP00000250894:p.Ser282Leu					MAPK8IP3_uc002cmj.1_RNA|MAPK8IP3_uc002cml.2_Missense_Mutation_p.S282L|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.S283L	p.S282L	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN			6	965	+			282					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.845C>T	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540273	0.85917	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	D;D	0.90444	-2.67;-2.67	5.43	4.48	0.54585	.	0.062472	0.64402	N	0.000003	D	0.93284	0.7860	L	0.51422	1.61	0.80722	D	1	D;D;D	0.71674	0.98;0.997;0.998	P;P;D	0.77557	0.769;0.852;0.99	D	0.93614	0.6941	10	0.66056	D	0.02	-10.4727	13.9922	0.64374	0.0:0.9258:0.0:0.0742	.	283;282;282	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	L	282	ENSP00000250894:S282L;ENSP00000348290:S282L	ENSP00000250894:S282L	S	+	2	0	MAPK8IP3	1737131	1.000000	0.71417	0.937000	0.37676	0.706000	0.40770	7.529000	0.81952	1.300000	0.44818	0.549000	0.68633	TCG		0.672	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		30	54	0	0	0	0	30	54				
C16orf89	146556	broad.mit.edu	37	16	5112511	5112511	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:5112511G>A	ENST00000315997.5	-	2	474	c.273C>T	c.(271-273)cgC>cgT	p.R91R	ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000350219.4_Silent_p.R129R|C16orf89_ENST00000422873.1_Silent_p.R129R|C16orf89_ENST00000474471.3_Silent_p.R91R|C16orf89_ENST00000472572.3_Silent_p.R91R	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	91						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GCATCCCCACGCGCAGGCTCA	0.572																																						uc010bud.2		NA																	0				ovary(1)|skin(1)	2						c.(385-387)CGC>CGT		hypothetical protein LOC146556 isoform 1							56.0	60.0	59.0					16																	5112511		1962	4152	6114	SO:0001819	synonymous_variant	146556					extracellular region		g.chr16:5112511G>A		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.273C>T	16.37:g.5112511G>A						ALG1_uc002cyj.2_Intron|C16orf89_uc002cyk.3_Silent_p.R129R	p.R129R	NM_152459	NP_689672	Q6UX73	CP089_HUMAN			2	475	-			91					B4DUM5|Q8N2I3|Q8N4T1	Silent	SNP	ENST00000315997.5	37	c.387C>T	CCDS42116.2																																																																																				0.572	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459		22	59	0	0	0	0	22	59				
ABAT	18	broad.mit.edu	37	16	8873373	8873373	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:8873373G>A	ENST00000396600.2	+	15	2245	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	ABAT_ENST00000425191.2_Missense_Mutation_p.R436Q|ABAT_ENST00000567812.1_Missense_Mutation_p.R451Q|ABAT_ENST00000268251.8_Missense_Mutation_p.R436Q|ABAT_ENST00000569156.1_Missense_Mutation_p.R436Q|TMEM186_ENST00000564869.1_5'Flank	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	436					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GTGAGAGGACGAGGCACCTTT	0.532																																						uc002czc.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(1306-1308)CGA>CAA		4-aminobutyrate aminotransferase precursor	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						103.0	84.0	91.0					16																	8873373		2197	4300	6497	SO:0001583	missense	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8873373G>A	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.1307G>A	16.37:g.8873373G>A	ENSP00000379845:p.Arg436Gln					ABAT_uc002czd.3_Missense_Mutation_p.R436Q|ABAT_uc010buh.2_Missense_Mutation_p.R378Q|ABAT_uc010bui.2_Missense_Mutation_p.R436Q	p.R436Q	NM_020686	NP_065737	P80404	GABT_HUMAN			15	1473	+			436					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	c.1307G>A	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632305	0.46944	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	D;D;D	0.86432	-2.12;-2.12;-2.12	5.31	4.35	0.52113	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.152173	0.44483	D	0.000456	D	0.82618	0.5076	L	0.61036	1.89	0.51012	D	0.999906	P	0.36315	0.547	B	0.26969	0.075	T	0.81297	-0.0996	10	0.40728	T	0.16	-12.0183	13.06	0.59002	0.0777:0.0:0.9223:0.0	.	436	P80404	GABT_HUMAN	Q	436	ENSP00000268251:R436Q;ENSP00000379845:R436Q;ENSP00000411916:R436Q	ENSP00000268251:R436Q	R	+	2	0	ABAT	8780874	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	5.882000	0.69714	1.243000	0.43853	-0.258000	0.10820	CGA		0.532	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		8	51	0	0	0	0	8	51				
ABAT	18	broad.mit.edu	37	16	8875251	8875251	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:8875251C>A	ENST00000396600.2	+	16	2405	c.1467C>A	c.(1465-1467)ctC>ctA	p.L489L	ABAT_ENST00000425191.2_Silent_p.L489L|ABAT_ENST00000567812.1_Silent_p.L504L|ABAT_ENST00000268251.8_Silent_p.L489L|ABAT_ENST00000569156.1_Nonsense_Mutation_p.S509*|TMEM186_ENST00000564869.1_5'UTR	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	489					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ACCTGTTCCTCAATATTTTCA	0.478																																						uc002czc.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(1465-1467)CTC>CTA		4-aminobutyrate aminotransferase precursor	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						138.0	108.0	118.0					16																	8875251		2197	4300	6497	SO:0001819	synonymous_variant	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8875251C>A	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.1467C>A	16.37:g.8875251C>A						ABAT_uc002czd.3_Silent_p.L489L|ABAT_uc010buh.2_Silent_p.L431L|ABAT_uc010bui.2_Silent_p.L489L	p.L489L	NM_020686	NP_065737	P80404	GABT_HUMAN			16	1633	+			489					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Silent	SNP	ENST00000396600.2	37	c.1467C>A	CCDS10534.1																																																																																				0.478	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		20	53	1	0	5.04e-11	5.41e-11	20	53				
SMG1	23049	broad.mit.edu	37	16	18865140	18865140	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:18865140G>C	ENST00000446231.2	-	31	4945	c.4533C>G	c.(4531-4533)ttC>ttG	p.F1511L	SMG1_ENST00000389467.3_Missense_Mutation_p.F1511L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1511	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|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)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CAGACTTGCAGAAAGATATGG	0.403																																						uc002dfm.2		NA																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(4531-4533)TTC>TTG		PI-3-kinase-related kinase SMG-1							79.0	68.0	72.0					16																	18865140		1891	4120	6011	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18865140G>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.4533C>G	16.37:g.18865140G>C	ENSP00000402515:p.Phe1511Leu					SMG1_uc010bwb.2_Missense_Mutation_p.F1371L|SMG1_uc010bwa.2_Missense_Mutation_p.F242L	p.F1511L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			31	4896	-			1511			FAT.|Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.4533C>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558133	0.45590	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01133	5.29;5.29	5.24	-1.88	0.07713	PIK-related kinase (1);Armadillo-type fold (1);	0.000000	0.56097	D	0.000021	T	0.00695	0.0023	N	0.08118	0	0.32986	D	0.524333	B	0.25667	0.131	B	0.22386	0.039	T	0.48151	-0.9060	10	0.18276	T	0.48	.	12.2646	0.54670	0.4599:0.0:0.5401:0.0	.	1511	Q96Q15	SMG1_HUMAN	L	1511	ENSP00000402515:F1511L;ENSP00000374118:F1511L	ENSP00000374118:F1511L	F	-	3	2	SMG1	18772641	0.999000	0.42202	0.994000	0.49952	0.992000	0.81027	0.458000	0.21892	-0.210000	0.10140	0.561000	0.74099	TTC		0.403	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		11	24	0	0	0	0	11	24				
C16orf62	57020	broad.mit.edu	37	16	19659193	19659193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:19659193C>T	ENST00000251143.5	+	24	2029	c.2017C>T	c.(2017-2019)Cag>Tag	p.Q673*	C16orf62_ENST00000543152.1_Nonsense_Mutation_p.Q422*|C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Q523*|C16orf62_ENST00000417362.2_Nonsense_Mutation_p.Q606*|C16orf62_ENST00000544275.1_3'UTR|C16orf62_ENST00000542263.1_Nonsense_Mutation_p.Q695*|C16orf62_ENST00000438132.3_Nonsense_Mutation_p.Q762*			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	673						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGTTCTTGTGCAGTTGATTCA	0.328																																						uc002dgn.1		NA																	0				ovary(1)	1						c.(2017-2019)CAG>TAG		hypothetical protein LOC57020							229.0	200.0	209.0					16																	19659193		2197	4300	6497	SO:0001587	stop_gained	57020					integral to membrane		g.chr16:19659193C>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2017C>T	16.37:g.19659193C>T	ENSP00000251143:p.Gln673*					C16orf62_uc002dgo.1_Nonsense_Mutation_p.Q606*|C16orf62_uc002dgp.1_Nonsense_Mutation_p.Q422*	p.Q673*	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN			24	2029	+			673					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Nonsense_Mutation	SNP	ENST00000251143.5	37	c.2017C>T		.	.	.	.	.	.	.	.	.	.	C	40	8.240678	0.98722	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	.	.	.	5.79	5.79	0.91817	.	0.054101	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.7782	17.5248	0.87796	0.0:1.0:0.0:0.0	.	.	.	.	X	762;695;673;606;523	.	.	Q	+	1	0	C16orf62	19566694	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.229000	0.65316	2.735000	0.93741	0.655000	0.94253	CAG		0.328	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		24	76	0	0	0	0	24	76				
IL4R	3566	broad.mit.edu	37	16	27375021	27375021	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:27375021C>T	ENST00000395762.2	+	11	2607	c.2348C>T	c.(2347-2349)tCg>tTg	p.S783L	IL4R_ENST00000170630.2_Missense_Mutation_p.S783L|IL4R_ENST00000380922.3_Missense_Mutation_p.S768L|IL4R_ENST00000543915.2_Missense_Mutation_p.S783L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	783					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.S783L(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTGGCACCCTCGGGCATCTCA	0.612																																						uc002don.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2347-2349)TCG>TTG		interleukin 4 receptor alpha chain isoform a							55.0	57.0	56.0					16																	27375021		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27375021C>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.2348C>T	16.37:g.27375021C>T	ENSP00000379111:p.Ser783Leu					IL4R_uc002dop.3_Missense_Mutation_p.S768L|IL4R_uc010bxy.2_Missense_Mutation_p.S783L|IL4R_uc002doo.2_Missense_Mutation_p.S623L	p.S783L	NM_000418	NP_000409	P24394	IL4RA_HUMAN			11	2590	+			783			Cytoplasmic (Potential).		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.2348C>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	C	4.491	0.090993	0.08632	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.09445	2.99;2.99;2.98;2.99	4.71	-0.119	0.13543	.	7.036920	0.00166	N	0.000000	T	0.06508	0.0167	N	0.05510	-0.035	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.33343	-0.9872	10	0.28530	T	0.3	-0.8167	7.3275	0.26563	0.0:0.4711:0.0:0.5289	.	768;783;783	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	L	783;783;768;783	ENSP00000379111:S783L;ENSP00000441667:S783L;ENSP00000370309:S768L;ENSP00000170630:S783L	ENSP00000170630:S783L	S	+	2	0	IL4R	27282522	0.000000	0.05858	0.008000	0.14137	0.707000	0.40811	-0.251000	0.08818	-0.005000	0.14395	-0.469000	0.05056	TCG		0.612	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			19	57	0	0	0	0	19	57				
KIAA0556	23247	broad.mit.edu	37	16	27789012	27789012	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:27789012G>C	ENST00000261588.4	+	26	4652	c.4633G>C	c.(4633-4635)Gag>Cag	p.E1545Q		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1545						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCCCACATGTGAGCCCACCGT	0.647																																						uc002dow.2		NA																	0				ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(4633-4635)GAG>CAG		hypothetical protein LOC23247							125.0	103.0	111.0					16																	27789012		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27789012G>C	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4633G>C	16.37:g.27789012G>C	ENSP00000261588:p.Glu1545Gln					KIAA0556_uc010vco.1_Missense_Mutation_p.E47Q	p.E1545Q	NM_015202	NP_056017	O60303	K0556_HUMAN			26	4657	+			1545					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.4633G>C	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000953	0.74818	.	.	ENSG00000047578	ENST00000261588	T	0.10288	2.89	4.75	4.75	0.60458	.	0.154856	0.44097	D	0.000495	T	0.10208	0.0250	L	0.34521	1.04	0.36816	D	0.886157	P	0.34955	0.477	B	0.30855	0.121	T	0.20338	-1.0278	10	0.41790	T	0.15	-30.8484	17.7289	0.88372	0.0:0.0:1.0:0.0	.	1545	O60303	K0556_HUMAN	Q	1545	ENSP00000261588:E1545Q	ENSP00000261588:E1545Q	E	+	1	0	KIAA0556	27696513	1.000000	0.71417	0.982000	0.44146	0.939000	0.58152	6.382000	0.73167	2.340000	0.79590	0.561000	0.74099	GAG		0.647	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		26	93	0	0	0	0	26	93				
LAT	27040	broad.mit.edu	37	16	28997455	28997455	+	Splice_Site	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:28997455G>C	ENST00000360872.5	+	4	241		c.e4-1		RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000354453.4_Splice_Site|LAT_ENST00000395461.3_Splice_Site|LAT_ENST00000564277.1_Splice_Site|LAT_ENST00000566177.1_Splice_Site|LAT_ENST00000454369.2_Splice_Site|LAT_ENST00000395456.2_Splice_Site|LAT_ENST00000563964.1_Intron			O43561	LAT_HUMAN	linker for activation of T cells						blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|gene expression (GO:0010467)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lymphocyte homeostasis (GO:0002260)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|regulation of T cell activation (GO:0050863)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				TGTGTCCTCAGACACGGTTGC	0.612																																						uc002dsd.2		NA																	0					0						c.e4-1		linker for activation of T cells isoform a							104.0	100.0	102.0					16																	28997455		2197	4300	6497	SO:0001630	splice_region_variant	27040				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity	g.chr16:28997455G>C	AF036905	CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1	16q13	2011-11-01			ENSG00000213658	ENSG00000213658			18874	protein-coding gene	gene with protein product	"""linker for activation of T cells, transmembrane adaptor"""	602354				9489702	Standard	NM_014387		Approved	LAT1	uc010vdj.2	O43561	OTTHUMG00000131761	ENST00000360872.5:c.164-1G>C	16.37:g.28997455G>C						uc010vct.1_Intron|LAT_uc010vdj.1_Splice_Site_p.H91_splice|LAT_uc002dsb.2_Splice_Site_p.H55_splice|LAT_uc002dsc.2_Splice_Site_p.H55_splice|LAT_uc010vdk.1_Splice_Site_p.H55_splice|LAT_uc010vdl.1_Splice_Site_p.H55_splice	p.H55_splice	NM_014387	NP_055202	O43561	LAT_HUMAN			4	516	+		Hepatocellular(780;0.244)						B7WPI0|C7C5T6|G5E9K3|O43919	Splice_Site	SNP	ENST00000360872.5	37	c.164_splice	CCDS10647.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210236	0.58343	.	.	ENSG00000213658	ENST00000395461;ENST00000395456;ENST00000454369;ENST00000360872;ENST00000354453	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0128	0.53297	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAT	28904956	1.000000	0.71417	0.957000	0.39632	0.654000	0.38779	3.227000	0.51262	2.302000	0.77476	0.462000	0.41574	.		0.612	LAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254688.2		Intron	36	83	0	0	0	0	36	83				
TAOK2	9344	broad.mit.edu	37	16	29994478	29994478	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:29994478C>G	ENST00000308893.4	+	12	2128	c.1085C>G	c.(1084-1086)tCc>tGc	p.S362C	TAOK2_ENST00000416441.2_Missense_Mutation_p.S189C|TAOK2_ENST00000543033.1_Missense_Mutation_p.S362C|TAOK2_ENST00000279394.3_Missense_Mutation_p.S362C	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	362	Ser-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATCAGCGCCTCCAGCCAGAGC	0.627																																						uc002dva.1		NA																	0				ovary(1)	1						c.(1084-1086)TCC>TGC		TAO kinase 2 isoform 2							73.0	82.0	79.0					16																	29994478		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994478C>G	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1085C>G	16.37:g.29994478C>G	ENSP00000310094:p.Ser362Cys					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.S362C|TAOK2_uc002dvc.1_Missense_Mutation_p.S362C|TAOK2_uc010bzm.1_Missense_Mutation_p.S369C|TAOK2_uc002dvd.1_Missense_Mutation_p.S189C	p.S362C	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			12	1868	+			362			Ser-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.1085C>G	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035150	0.75617	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.72394	-0.65;-0.58;-0.63	5.36	5.36	0.76844	Protein kinase-like domain (1);	0.111163	0.56097	D	0.000026	D	0.84056	0.5388	M	0.83012	2.62	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.993;0.997;0.999;0.998;0.998	D	0.85317	0.1082	9	.	.	.	.	12.8329	0.57756	0.0:0.7215:0.2785:0.0	.	553;189;362;362;362	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	C	362	ENSP00000310094:S362C;ENSP00000440336:S362C;ENSP00000279394:S362C	.	S	+	2	0	TAOK2	29901979	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.882000	0.69714	2.518000	0.84900	0.563000	0.77884	TCC		0.627	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		42	96	0	0	0	0	42	96				
TAOK2	9344	broad.mit.edu	37	16	29994909	29994909	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:29994909C>T	ENST00000308893.4	+	13	2389	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	TAOK2_ENST00000416441.2_Missense_Mutation_p.S276F|TAOK2_ENST00000543033.1_Missense_Mutation_p.S449F|TAOK2_ENST00000279394.3_Missense_Mutation_p.S449F	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	449					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCTCCCACTTCCACCACCTCT	0.622																																						uc002dva.1		NA																	0				ovary(1)	1						c.(1345-1347)TCC>TTC		TAO kinase 2 isoform 2							147.0	186.0	173.0					16																	29994909		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994909C>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1346C>T	16.37:g.29994909C>T	ENSP00000310094:p.Ser449Phe					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.S449F|TAOK2_uc002dvc.1_Missense_Mutation_p.S449F|TAOK2_uc010bzm.1_Missense_Mutation_p.S456F|TAOK2_uc002dvd.1_Missense_Mutation_p.S276F	p.S449F	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			13	2129	+			449					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.1346C>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245364	0.39697	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.71698	-0.59;-0.56;-0.56	4.95	3.93	0.45458	.	0.732006	0.13099	N	0.413956	T	0.62720	0.2451	N	0.24115	0.695	0.32761	N	0.505119	P;P;P;P;D	0.56968	0.947;0.928;0.897;0.614;0.978	B;P;P;B;P	0.51615	0.271;0.543;0.504;0.308;0.675	T	0.64132	-0.6479	9	.	.	.	.	7.3893	0.26901	0.0:0.8803:0.0:0.1197	.	640;276;449;449;449	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	F	449	ENSP00000310094:S449F;ENSP00000440336:S449F;ENSP00000279394:S449F	.	S	+	2	0	TAOK2	29902410	0.717000	0.27966	0.934000	0.37439	0.257000	0.26127	4.363000	0.59473	2.571000	0.86741	0.462000	0.41574	TCC		0.622	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		9	466	0	0	0	0	9	466				
GDPD3	79153	broad.mit.edu	37	16	30116264	30116264	+	Missense_Mutation	SNP	C	C	T	rs372620022		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:30116264C>T	ENST00000406256.3	-	10	1263	c.886G>A	c.(886-888)Gtc>Atc	p.V296I	RP11-455F5.3_ENST00000515455.2_RNA|RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	296	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						TCCGTTATGACGCCAGTGGCT	0.567																																						uc002dwp.2		NA																	0					0						c.(886-888)GTC>ATC		glycerophosphodiester phosphodiesterase domain		C	ILE/VAL	0,4394		0,0,2197	76.0	70.0	72.0		886	3.7	1.0	16		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	GDPD3	NM_024307.2	29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	296/319	30116264	1,12993	2197	4300	6497	SO:0001583	missense	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30116264C>T	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.886G>A	16.37:g.30116264C>T	ENSP00000384363:p.Val296Ile					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002dwo.1_RNA|GDPD3_uc002dwq.2_Missense_Mutation_p.V234I	p.V296I	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN			10	965	-			296			GDPD.|Cytoplasmic (Potential).		Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	c.886G>A	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	C	18.98	3.736856	0.69304	0.0	1.16E-4	ENSG00000102886	ENST00000406256;ENST00000360688	T	0.35421	1.31	4.65	3.7	0.42460	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.215075	0.39274	N	0.001420	T	0.30448	0.0765	L	0.41710	1.295	0.37373	D	0.911732	P	0.51933	0.949	P	0.50270	0.636	T	0.34079	-0.9843	10	0.02654	T	1	.	8.4226	0.32710	0.0:0.8942:0.0:0.1058	.	296	Q7L5L3	GDPD3_HUMAN	I	296;234	ENSP00000384363:V296I	ENSP00000353909:V234I	V	-	1	0	GDPD3	30023765	0.934000	0.31675	0.963000	0.40424	0.907000	0.53573	1.873000	0.39558	1.186000	0.42985	0.561000	0.74099	GTC		0.567	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		15	43	0	0	0	0	15	43				
SRCAP	10847	broad.mit.edu	37	16	30749759	30749759	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:30749759G>C	ENST00000262518.4	+	34	8783	c.8398G>C	c.(8398-8400)Gaa>Caa	p.E2800Q	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.E2738Q|SRCAP_ENST00000344771.4_Missense_Mutation_p.E2642Q	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2800	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GTCAGGGCCAGAATCCTCCCC	0.652																																						uc002dze.1		NA																	0				ovary(3)|skin(1)	4						c.(8398-8400)GAA>CAA		Snf2-related CBP activator protein							57.0	63.0	61.0					16																	30749759		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30749759G>C	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8398G>C	16.37:g.30749759G>C	ENSP00000262518:p.Glu2800Gln					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E2595Q	p.E2800Q	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	8783	+			2800			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.8398G>C	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	6.519	0.463983	0.12402	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.94232	-3.37;-3.38;-3.38	5.04	5.04	0.67666	.	0.000000	0.52532	D	0.000079	D	0.89750	0.6805	N	0.08118	0	0.24566	N	0.993949	D;P	0.55385	0.971;0.759	P;B	0.52424	0.698;0.328	D	0.84795	0.0781	10	0.59425	D	0.04	-7.7013	15.4137	0.74948	0.0:0.0:1.0:0.0	.	2738;2800	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	Q	2800;2738;2642	ENSP00000262518:E2800Q;ENSP00000378499:E2738Q;ENSP00000343042:E2642Q	ENSP00000262518:E2800Q	E	+	1	0	SRCAP	30657260	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	4.593000	0.61034	2.629000	0.89072	0.591000	0.81541	GAA		0.652	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		4	76	0	0	0	0	4	76				
BCKDK	10295	broad.mit.edu	37	16	31121565	31121565	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:31121565G>A	ENST00000394951.1	+	7	1086	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000287507.3_Missense_Mutation_p.V155M|BCKDK_ENST00000219794.6_Missense_Mutation_p.V155M|BCKDK_ENST00000394950.3_Missense_Mutation_p.V155M			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	155					branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						CTGCCAGCTGGTGCGACAGCT	0.607																																						uc002eaw.3		NA																	0				stomach(1)|breast(1)	2						c.(463-465)GTG>ATG		branched chain ketoacid dehydrogenase kinase							80.0	77.0	78.0					16																	31121565		2197	4300	6497	SO:0001583	missense	10295				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity	g.chr16:31121565G>A	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.463G>A	16.37:g.31121565G>A	ENSP00000378405:p.Val155Met					BCKDK_uc002eav.3_Missense_Mutation_p.V155M|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_Missense_Mutation_p.V155M	p.V155M	NM_005881	NP_005872	O14874	BCKD_HUMAN			6	779	+			155					A8MY43|Q6FGL4|Q96G95|Q96IN5	Missense_Mutation	SNP	ENST00000394951.1	37	c.463G>A	CCDS10705.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359289	0.82353	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.45	5.45	0.79879	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.056484	0.64402	D	0.000001	T	0.40694	0.1127	L	0.50919	1.6	0.54753	D	0.999986	D;D	0.54772	0.968;0.968	P;P	0.53450	0.726;0.642	T	0.04708	-1.0932	10	0.36615	T	0.2	-16.0536	14.0846	0.64947	0.0:0.1511:0.8489:0.0	.	155;155	Q96G95;O14874	.;BCKD_HUMAN	M	155	ENSP00000378405:V155M;ENSP00000219794:V155M;ENSP00000378404:V155M;ENSP00000287507:V155M	ENSP00000219794:V155M	V	+	1	0	BCKDK	31029066	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.948000	0.56660	2.720000	0.93068	0.655000	0.94253	GTG		0.607	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		18	66	0	0	0	0	18	66				
BCKDK	10295	broad.mit.edu	37	16	31121725	31121725	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:31121725G>A	ENST00000394951.1	+	8	1170	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000287507.3_Missense_Mutation_p.E183K|BCKDK_ENST00000219794.6_Missense_Mutation_p.E183K|BCKDK_ENST00000394950.3_Missense_Mutation_p.E183K			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	183	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						TTTACAGGATGAAAAGCTCGT	0.592																																						uc002eaw.3		NA																	0				stomach(1)|breast(1)	2						c.(547-549)GAA>AAA		branched chain ketoacid dehydrogenase kinase							72.0	76.0	75.0					16																	31121725		2197	4300	6497	SO:0001583	missense	10295				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity	g.chr16:31121725G>A	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.547G>A	16.37:g.31121725G>A	ENSP00000378405:p.Glu183Lys					BCKDK_uc002eav.3_Missense_Mutation_p.E183K|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_Missense_Mutation_p.E183K	p.E183K	NM_005881	NP_005872	O14874	BCKD_HUMAN			7	863	+			183			Histidine kinase.		A8MY43|Q6FGL4|Q96G95|Q96IN5	Missense_Mutation	SNP	ENST00000394951.1	37	c.547G>A	CCDS10705.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858662	0.71834	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.56	5.56	0.83823	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.103576	0.64402	D	0.000003	T	0.45538	0.1347	M	0.63428	1.95	0.80722	D	1	P;P	0.47191	0.891;0.801	P;P	0.51487	0.671;0.596	T	0.34204	-0.9838	10	0.59425	D	0.04	-17.6883	16.7947	0.85598	0.0:0.0:1.0:0.0	.	183;183	Q96G95;O14874	.;BCKD_HUMAN	K	183	ENSP00000378405:E183K;ENSP00000219794:E183K;ENSP00000378404:E183K;ENSP00000287507:E183K	ENSP00000219794:E183K	E	+	1	0	BCKDK	31029226	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	6.872000	0.75536	2.778000	0.95560	0.655000	0.94253	GAA		0.592	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		20	59	0	0	0	0	20	59				
PYCARD	29108	broad.mit.edu	37	16	31213943	31213943	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:31213943G>A	ENST00000247470.9	-	1	370	c.69C>T	c.(67-69)ttC>ttT	p.F23F	PYCARD_ENST00000350605.4_Silent_p.F23F|C16orf98_ENST00000561916.2_Missense_Mutation_p.E57K	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	23	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|macropinocytosis (GO:0044351)|myeloid dendritic cell activation (GO:0001773)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phagocytosis (GO:0050766)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell migration (GO:2000406)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of protein stability (GO:0031647)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|IkappaB kinase complex (GO:0008385)|mitochondrion (GO:0005739)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|protein homodimerization activity (GO:0042803)|Pyrin domain binding (GO:0032090)			NS(1)|kidney(1)	2						GCTTCAGCTTGAACTTCTTGA	0.706																																						uc010cak.2		NA																	0					0						c.(67-69)TTC>TTT		PYD and CARD domain containing isoform a							42.0	40.0	41.0					16																	31213943		2195	4298	6493	SO:0001819	synonymous_variant	29108				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding	g.chr16:31213943G>A	AB023416	CCDS10708.1, CCDS10709.1	16p11.2	2013-01-22			ENSG00000103490	ENSG00000103490			16608	protein-coding gene	gene with protein product		606838					Standard	NM_013258		Approved	TMS-1, CARD5, ASC	uc010cak.3	Q9ULZ3	OTTHUMG00000176753	ENST00000247470.9:c.69C>T	16.37:g.31213943G>A						PYCARD_uc002ebm.2_Silent_p.F23F	p.F23F	NM_013258	NP_037390	Q9ULZ3	ASC_HUMAN			1	309	-			23			DAPIN.		Q96D12|Q9BSZ5|Q9HBD0|Q9NXJ8	Silent	SNP	ENST00000247470.9	37	c.69C>T	CCDS10708.1																																																																																				0.706	PYCARD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255539.13	NM_013258		8	42	0	0	0	0	8	42				
KATNB1	10300	broad.mit.edu	37	16	57786709	57786709	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:57786709G>C	ENST00000379661.3	+	10	1116	c.724G>C	c.(724-726)Gac>Cac	p.D242H		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CTTCAACCCAGACGGCTGCTG	0.657																																						uc002eml.1		NA																	0					0						c.(724-726)GAC>CAC		katanin p80 subunit B 1							36.0	35.0	35.0					16																	57786709		2198	4299	6497	SO:0001583	missense	10300				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity	g.chr16:57786709G>C	AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"""WD repeat domain containing"""	6217	protein-coding gene	gene with protein product		602703	"""katanin p80 (WD40-containing) subunit B 1"""			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.724G>C	16.37:g.57786709G>C	ENSP00000368982:p.Asp242His						p.D242H	NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN			10	1098	+		all_neural(199;0.223)	242			WD 6.|Interaction with centrosomes.|Interaction with dynein (By similarity).			Missense_Mutation	SNP	ENST00000379661.3	37	c.724G>C	CCDS10788.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033926	0.93575	.	.	ENSG00000140854	ENST00000379661	D	0.84146	-1.81	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93478	0.7919	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94124	0.7382	10	0.66056	D	0.02	-0.0568	18.2687	0.90060	0.0:0.0:1.0:0.0	.	242	Q9BVA0	KTNB1_HUMAN	H	242	ENSP00000368982:D242H	ENSP00000368982:D242H	D	+	1	0	KATNB1	56344210	1.000000	0.71417	0.809000	0.32408	0.882000	0.50991	7.647000	0.83462	2.563000	0.86464	0.655000	0.94253	GAC		0.657	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3			4	28	0	0	0	0	4	28				
ELMO3	79767	broad.mit.edu	37	16	67237075	67237075	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:67237075G>C	ENST00000360833.1	+	16	1894	c.1837G>C	c.(1837-1839)Gac>Cac	p.D613H	ELMO3_ENST00000393997.2_Missense_Mutation_p.D630H|MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000477898.1_Missense_Mutation_p.D464H			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	577	PH.				apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.D630N(1)		cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCAGTACGGAGACATGGAGGA	0.647																																						uc002esa.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(1888-1890)GAC>CAC		engulfment and cell motility 3							26.0	31.0	29.0					16																	67237075		1995	4165	6160	SO:0001583	missense	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67237075G>C		CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"""Engulfment and cell motility proteins"""	17289	protein-coding gene	gene with protein product		606422	"""engulfment and cell motility 3 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.1837G>C	16.37:g.67237075G>C	ENSP00000354077:p.Asp613His					ELMO3_uc002esb.2_Missense_Mutation_p.D613H|ELMO3_uc002esc.2_Missense_Mutation_p.D464H|uc010vjf.1_5'Flank|MIR328_hsa-mir-328|MI0000804_5'Flank	p.D630H	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	17	1931	+		Ovarian(137;0.0563)	577			PH.		B4DV86|Q9H8A5	Missense_Mutation	SNP	ENST00000360833.1	37	c.1888G>C		.	.	.	.	.	.	.	.	.	.	G	18.40	3.615245	0.66672	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.64618	-0.11;-0.11	5.84	5.84	0.93424	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.82816	-0.0270	10	0.87932	D	0	-17.9589	18.7059	0.91639	0.0:0.0:1.0:0.0	.	577;613;630	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	H	613;630	ENSP00000354077:D613H;ENSP00000377566:D630H	ENSP00000354077:D613H	D	+	1	0	ELMO3	65794576	1.000000	0.71417	0.870000	0.34147	0.437000	0.31866	5.777000	0.68931	2.768000	0.95171	0.561000	0.74099	GAC		0.647	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2	NM_024712		10	26	0	0	0	0	10	26				
TANGO6	79613	broad.mit.edu	37	16	68961608	68961608	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:68961608C>A	ENST00000261778.1	+	13	2277	c.2265C>A	c.(2263-2265)gcC>gcA	p.A755A	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	755						integral component of membrane (GO:0016021)											GAGCCTTTGCCACTGAGGCCG	0.502																																						uc002ewi.3		NA																	0					0						c.(2263-2265)GCC>GCA		transmembrane and coiled-coil domains 7							145.0	144.0	144.0					16																	68961608		2033	4218	6251	SO:0001819	synonymous_variant	79613					integral to membrane	binding	g.chr16:68961608C>A		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2265C>A	16.37:g.68961608C>A							p.A755A	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	13	2277	+		Ovarian(137;0.0568)	755					Q569F9|Q9H9K1	Silent	SNP	ENST00000261778.1	37	c.2265C>A	CCDS45516.1																																																																																				0.502	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		14	140	1	0	1.05e-09	1.13e-09	14	140				
ZNF19	7567	broad.mit.edu	37	16	71512138	71512138	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:71512138G>A	ENST00000288177.5	-	5	522	c.267C>T	c.(265-267)gtC>gtT	p.V89V	AC010547.9_ENST00000561908.1_Silent_p.V89V|ZNF19_ENST00000565637.1_Silent_p.V47V|ZNF19_ENST00000565100.2_Silent_p.V19V|ZNF19_ENST00000564230.1_Silent_p.V89V|ZNF19_ENST00000567225.1_Silent_p.V89V	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	89					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)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TACCTTTACAGACGTTTTTGG	0.448																																						uc010cgc.1		NA																	0					0						c.(265-267)GTC>GTT		zinc finger protein 19							88.0	81.0	84.0					16																	71512138		2198	4300	6498	SO:0001819	synonymous_variant	7567					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:71512138G>A	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.267C>T	16.37:g.71512138G>A						ZNF23_uc002fai.2_5'UTR|ZNF19_uc002fak.1_Silent_p.V77V|ZNF19_uc002fal.1_Silent_p.V77V|ZNF19_uc002fam.1_Silent_p.V89V	p.V89V	NM_006961	NP_008892	P17023	ZNF19_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)	5	773	-		Ovarian(137;0.00965)	89					A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Silent	SNP	ENST00000288177.5	37	c.267C>T	CCDS10901.1																																																																																				0.448	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961		8	34	0	0	0	0	8	34				
ATMIN	23300	broad.mit.edu	37	16	81078338	81078338	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:81078338C>G	ENST00000299575.4	+	4	2259	c.2235C>G	c.(2233-2235)gtC>gtG	p.V745V	ATMIN_ENST00000566488.1_Silent_p.V589V|ATMIN_ENST00000564241.1_Silent_p.V589V|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	745					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CTGAAGGAGTCTCCACTGCTA	0.453																																						uc002ffz.1		NA																	0					0						c.(2233-2235)GTC>GTG		ATM interactor							79.0	78.0	78.0					16																	81078338		2202	4300	6502	SO:0001819	synonymous_variant	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078338C>G	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.2235C>G	16.37:g.81078338C>G						ATMIN_uc002fga.2_Silent_p.V587V|ATMIN_uc010vnn.1_Silent_p.V516V|ATMIN_uc002fgb.1_Silent_p.V587V	p.V745V	NM_015251	NP_056066	O43313	ATMIN_HUMAN			4	2253	+			745					A8K4H8|Q68DC9	Silent	SNP	ENST00000299575.4	37	c.2235C>G	CCDS32494.1																																																																																				0.453	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		10	97	0	0	0	0	10	97				
GAN	8139	broad.mit.edu	37	16	81388253	81388253	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:81388253C>G	ENST00000568107.2	+	3	688	c.526C>G	c.(526-528)Caa>Gaa	p.Q176E		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	176	BACK.				cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GCTGAGTCCTCAAAAGCTTAA	0.408																																					GBM(106;1239 1507 7582 9741 33976)	uc002fgo.2		NA																	0				ovary(2)	2						c.(526-528)CAA>GAA		gigaxonin							106.0	101.0	103.0					16																	81388253		2202	4300	6502	SO:0001583	missense	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81388253C>G	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.526C>G	16.37:g.81388253C>G	ENSP00000476795:p.Gln176Glu						p.Q176E	NM_022041	NP_071324	Q9H2C0	GAN_HUMAN			3	674	+		Colorectal(91;0.153)	176			BACK.			Missense_Mutation	SNP	ENST00000568107.2	37	c.526C>G	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	C	2.139	-0.397172	0.04899	.	.	ENSG00000127688	ENST00000248272	T	0.65364	-0.15	5.8	5.8	0.92144	BTB/Kelch-associated (2);	0.534882	0.22915	N	0.054081	T	0.27697	0.0681	N	0.00621	-1.32	0.20926	N	0.999822	B	0.02656	0.0	B	0.04013	0.001	T	0.04840	-1.0923	10	0.02654	T	1	.	14.8532	0.70313	0.1436:0.8564:0.0:0.0	.	176	Q9H2C0	GAN_HUMAN	E	176	ENSP00000248272:Q176E	ENSP00000248272:Q176E	Q	+	1	0	GAN	79945754	0.964000	0.33143	0.978000	0.43139	0.985000	0.73830	2.072000	0.41510	2.751000	0.94390	0.650000	0.86243	CAA		0.408	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			21	50	0	0	0	0	21	50				
CDH13	1012	broad.mit.edu	37	16	83636065	83636065	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:83636065G>C	ENST00000566620.1	+	8	1257	c.967G>C	c.(967-969)Gaa>Caa	p.E323Q	CDH13_ENST00000268613.10_Missense_Mutation_p.E370Q|CDH13_ENST00000428848.3_Missense_Mutation_p.E284Q	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	323	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GTAGACTCTGGAAAATCCCAA	0.463																																						uc002fgx.2		NA																	0				large_intestine(1)	1						c.(967-969)GAA>CAA		cadherin 13 preproprotein							252.0	252.0	252.0					16																	83636065		1956	4161	6117	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83636065G>C	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.967G>C	16.37:g.83636065G>C	ENSP00000454435:p.Glu323Gln					CDH13_uc010vns.1_Missense_Mutation_p.E370Q|CDH13_uc010vnt.1_Missense_Mutation_p.E69Q|CDH13_uc010vnu.1_Missense_Mutation_p.E284Q	p.E323Q	NM_001257	NP_001248	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	8	1087	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	323			Cadherin 2.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.967G>C	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	4.811	0.150756	0.09185	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000540531	T	0.58060	0.36	6.02	6.02	0.97574	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.28333	0.0700	N	0.05592	-0.015	0.80722	D	1	B;B;P	0.38223	0.001;0.0;0.623	B;B;B	0.30943	0.004;0.007;0.122	T	0.20505	-1.0273	9	0.14252	T	0.57	.	14.0126	0.64507	0.0:0.0:0.8488:0.1512	.	284;370;323	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	Q	370;323;284;25;13	ENSP00000268613:E370Q	ENSP00000268613:E370Q	E	+	1	0	CDH13	82193566	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.231000	0.58639	2.865000	0.98341	0.655000	0.94253	GAA		0.463	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		67	241	0	0	0	0	67	241				
FANCA	2175	broad.mit.edu	37	16	89858379	89858379	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:89858379G>C	ENST00000389301.3	-	13	1211	c.1181C>G	c.(1180-1182)tCt>tGt	p.S394C	FANCA_ENST00000568369.1_Missense_Mutation_p.S394C	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	394					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AACCAGGGCAGACACAAAGGA	0.552			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc002fou.1		NA	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	D|Mis|N|F|S	"""Fanconi anemia, complementation group A"""			L		AML|leukemia			0				ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(1180-1182)TCT>TGT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group A isoform							99.0	89.0	93.0					16																	89858379		2198	4300	6498	SO:0001583	missense	2175	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89858379G>C	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1181C>G	16.37:g.89858379G>C	ENSP00000373952:p.Ser394Cys					FANCA_uc010vpn.1_Missense_Mutation_p.S394C	p.S394C	NM_000135	NP_000126	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	13	1223	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	394					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.1181C>G	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073318	0.55646	.	.	ENSG00000187741	ENST00000389301	T	0.69926	-0.44	5.49	5.49	0.81192	.	0.107851	0.41938	D	0.000781	T	0.82084	0.4960	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.67231	0.95;0.915	D	0.84151	0.0423	10	0.87932	D	0	-14.3438	18.4164	0.90571	0.0:0.0:1.0:0.0	.	394;394	B4DRI7;O15360	.;FANCA_HUMAN	C	394	ENSP00000373952:S394C	ENSP00000373952:S394C	S	-	2	0	FANCA	88385880	1.000000	0.71417	0.944000	0.38274	0.005000	0.04900	7.923000	0.87546	2.599000	0.87857	0.644000	0.83932	TCT		0.552	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			15	48	0	0	0	0	15	48				
SPIRE2	84501	broad.mit.edu	37	16	89930015	89930015	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:89930015G>T	ENST00000378247.3	+	11	1750	c.1707G>T	c.(1705-1707)ggG>ggT	p.G569G	SPIRE2_ENST00000393062.2_Silent_p.G569G	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	569					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TGAAGAAGGGGAAGGTGAGGC	0.587																																						uc002foz.1		NA																	0				central_nervous_system(1)	1						c.(1705-1707)GGG>GGT		spire homolog 2							70.0	59.0	63.0					16																	89930015		2198	4300	6498	SO:0001819	synonymous_variant	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89930015G>T	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1707G>T	16.37:g.89930015G>T						SPIRE2_uc010ciw.1_Silent_p.G569G|SPIRE2_uc002fpa.1_Silent_p.G521G|SPIRE2_uc010cix.1_Silent_p.G436G	p.G569G	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	11	1759	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	569					A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Silent	SNP	ENST00000378247.3	37	c.1707G>T	CCDS32516.1																																																																																				0.587	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		12	60	1	0	3.07e-06	3.24e-06	12	60				
ZZEF1	23140	broad.mit.edu	37	17	4009037	4009037	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:4009037G>C	ENST00000381638.2	-	7	1468	c.1344C>G	c.(1342-1344)ctC>ctG	p.L448L	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	448							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CATTAGGGGAGAGGAAAGTTG	0.453																																						uc002fxe.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1342-1344)CTC>CTG		zinc finger, ZZ type with EF hand domain 1							108.0	105.0	106.0					17																	4009037		2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:4009037G>C	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1344C>G	17.37:g.4009037G>C						ZZEF1_uc002fxk.1_Silent_p.L448L	p.L448L	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			7	1408	-			448					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.1344C>G	CCDS11043.1																																																																																				0.453	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		15	40	0	0	0	0	15	40				
XAF1	54739	broad.mit.edu	37	17	6665494	6665494	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:6665494G>A	ENST00000361842.3	+	5	681	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	XAF1_ENST00000441631.1_Missense_Mutation_p.E148K|XAF1_ENST00000346752.4_Missense_Mutation_p.E129K	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	148					apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|negative regulation of protein complex assembly (GO:0031333)|response to interferon-beta (GO:0035456)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						TTCAGCTCCTGAAAGGGAAAT	0.408																																						uc002gdn.2		NA																	0					0						c.(442-444)GAA>AAA		XIAP associated factor 1 isoform 1							84.0	80.0	82.0					17																	6665494		2203	4300	6503	SO:0001583	missense	54739				apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding	g.chr17:6665494G>A	X99699	CCDS11080.1, CCDS11081.1	17p13.2	2010-03-19			ENSG00000132530	ENSG00000132530			30932	protein-coding gene	gene with protein product		606717				12029096, 11175744	Standard	NM_199139		Approved	BIRC4BP, XIAPAF1, HSXIAPAF1	uc002gdn.3	Q6GPH4		ENST00000361842.3:c.442G>A	17.37:g.6665494G>A	ENSP00000354822:p.Glu148Lys					XAF1_uc002gdm.1_Missense_Mutation_p.E88K|XAF1_uc002gdo.2_Missense_Mutation_p.E129K|XAF1_uc002gdp.2_Intron|XAF1_uc002gdq.2_5'UTR|XAF1_uc002gdr.2_Intron	p.E148K	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN			5	684	+			148					A2T931|A2T932|A8K2L1|A8K9Y3|D3DTM6|Q6MZE8|Q8N557|Q99982	Missense_Mutation	SNP	ENST00000361842.3	37	c.442G>A	CCDS11080.1	.	.	.	.	.	.	.	.	.	.	G	8.626	0.892521	0.17613	.	.	ENSG00000132530	ENST00000361842;ENST00000441631;ENST00000346752;ENST00000431790	T;T;T	0.38722	1.12;1.12;1.12	4.45	-0.0563	0.13805	.	1.035160	0.07628	N	0.928088	T	0.21387	0.0515	N	0.16903	0.455	0.09310	N	1	P;B;P	0.42518	0.782;0.447;0.675	B;B;B	0.38458	0.274;0.063;0.19	T	0.11567	-1.0582	10	0.19590	T	0.45	-1.5348	3.3162	0.07034	0.0933:0.3236:0.4166:0.1665	.	129;148;88	Q6GPH4-2;Q6GPH4;B3KPW1	.;XAF1_HUMAN;.	K	148;148;129;46	ENSP00000354822:E148K;ENSP00000413199:E148K;ENSP00000341029:E129K	ENSP00000341029:E129K	E	+	1	0	XAF1	6606218	0.001000	0.12720	0.009000	0.14445	0.284000	0.27059	-0.017000	0.12590	0.056000	0.16144	0.563000	0.77884	GAA		0.408	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439643.5	NM_017523		12	19	0	0	0	0	12	19				
PHF23	79142	broad.mit.edu	37	17	7139717	7139717	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:7139717G>A	ENST00000320316.3	-	4	755	c.529C>T	c.(529-531)Cct>Tct	p.P177S	PHF23_ENST00000571362.1_Missense_Mutation_p.P110S|DVL2_ENST00000005340.5_5'Flank|DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000454255.2_Missense_Mutation_p.P173S|PHF23_ENST00000576955.1_Missense_Mutation_p.P47S|PHF23_ENST00000570753.1_5'Flank	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	177							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						TTTCGAGGAGGATGGGAGAGG	0.632																																						uc002gfa.2		NA																	0					0						c.(529-531)CCT>TCT		PHD finger protein 23							47.0	53.0	51.0					17																	7139717		1880	4097	5977	SO:0001583	missense	79142						zinc ion binding	g.chr17:7139717G>A	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.529C>T	17.37:g.7139717G>A	ENSP00000322579:p.Pro177Ser					DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Missense_Mutation_p.P110S|PHF23_uc010cma.2_Missense_Mutation_p.P47S	p.P177S	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN			4	756	-			177					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	ENST00000320316.3	37	c.529C>T	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050469	0.55218	.	.	ENSG00000040633	ENST00000320316;ENST00000454255	T;T	0.51071	0.75;0.72	4.7	4.7	0.59300	.	0.000000	0.43919	D	0.000515	T	0.57272	0.2042	L	0.36672	1.1	0.27165	N	0.961053	D;P	0.69078	0.997;0.941	D;B	0.75484	0.986;0.429	T	0.51560	-0.8690	10	0.59425	D	0.04	-6.4307	12.9978	0.58657	0.0:0.0:1.0:0.0	.	110;177	B4DLK6;Q9BUL5	.;PHF23_HUMAN	S	177;173	ENSP00000322579:P177S;ENSP00000414607:P173S	ENSP00000322579:P177S	P	-	1	0	PHF23	7080441	0.995000	0.38212	1.000000	0.80357	0.872000	0.50106	-0.209000	0.09358	2.421000	0.82119	0.563000	0.77884	CCT		0.632	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		21	49	0	0	0	0	21	49				
KDM6B	23135	broad.mit.edu	37	17	7752328	7752328	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:7752328C>T	ENST00000448097.2	+	11	3053	c.2722C>T	c.(2722-2724)Cgc>Tgc	p.R908C	KDM6B_ENST00000254846.5_Missense_Mutation_p.R908C			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	908					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCCCCCTGCTCGCTCTGAGTC	0.711																																						uc002giw.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(2722-2724)CGC>TGC		lysine (K)-specific demethylase 6B							11.0	12.0	12.0					17																	7752328		1932	3905	5837	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752328C>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2722C>T	17.37:g.7752328C>T	ENSP00000412513:p.Arg908Cys					KDM6B_uc002gix.2_Missense_Mutation_p.R210C	p.R908C	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN			11	3098	+			908					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.2722C>T		.	.	.	.	.	.	.	.	.	.	C	12.68	2.009655	0.35415	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.77358	-1.09;-1.09	5.0	3.95	0.45737	.	0.075459	0.50627	D	0.000107	T	0.76449	0.3989	N	0.19112	0.55	0.45554	D	0.9985	D;D	0.76494	0.998;0.999	B;D	0.67548	0.446;0.952	T	0.77210	-0.2671	10	0.56958	D	0.05	-5.2943	9.9186	0.41450	0.1524:0.6993:0.1483:0.0	.	908;908	O15054;O15054-1	KDM6B_HUMAN;.	C	908	ENSP00000254846:R908C;ENSP00000412513:R908C	ENSP00000254846:R908C	R	+	1	0	KDM6B	7693053	0.989000	0.36119	1.000000	0.80357	0.957000	0.61999	1.550000	0.36223	2.490000	0.84030	0.462000	0.41574	CGC		0.711	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		6	11	0	0	0	0	6	11				
ARHGAP44	9912	broad.mit.edu	37	17	12823101	12823101	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:12823101G>A	ENST00000379672.5	+	6	717	c.417G>A	c.(415-417)agG>agA	p.R139R	MIR1269B_ENST00000580405.1_RNA|ARHGAP44_ENST00000340825.3_Silent_p.R139R|ARHGAP44_ENST00000262444.9_Silent_p.R139R	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	139	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						AAAAGCAGAGGAAACACTTAG	0.378																																						uc002gnr.3		NA																	0					0						c.(415-417)AGG>AGA		Rho GTPase-activating protein RICH2							105.0	98.0	100.0					17																	12823101		1872	4107	5979	SO:0001819	synonymous_variant	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12823101G>A		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.417G>A	17.37:g.12823101G>A						RICH2_uc010vvk.1_Silent_p.R139R|RICH2_uc010vvl.1_Silent_p.R139R|RICH2_uc002gns.3_5'UTR|RICH2_uc010vvm.1_Silent_p.R139R|RICH2_uc010vvn.1_RNA	p.R139R	NM_014859	NP_055674	Q17R89	RHG44_HUMAN			6	744	+			139			BAR.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Silent	SNP	ENST00000379672.5	37	c.417G>A	CCDS45616.1																																																																																				0.378	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		3	12	0	0	0	0	3	12				
RASD1	51655	broad.mit.edu	37	17	17398763	17398763	+	Silent	SNP	G	G	A	rs199720384		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:17398763G>A	ENST00000225688.3	-	2	733	c.522C>T	c.(520-522)ttC>ttT	p.F174F	RASD1_ENST00000579152.1_3'UTR	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	174					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CCGAGATCTCGAAGTAGGCGC	0.647																																						uc002gri.2		NA																	0					0						c.(520-522)TTC>TTT		RAS, dexamethasone-induced 1 precursor							25.0	25.0	25.0					17																	17398763		2200	4298	6498	SO:0001819	synonymous_variant	51655				G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity	g.chr17:17398763G>A	AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"""ras-related protein"", ""dexamethasone-induced ras-related protein 1"", ""activator of G protein signaling"""	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.522C>T	17.37:g.17398763G>A							p.F174F	NM_016084	NP_057168	Q9Y272	RASD1_HUMAN			2	734	-			174					B2R709|B4DFF4|Q9NYB4	Silent	SNP	ENST00000225688.3	37	c.522C>T	CCDS11185.1																																																																																				0.647	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131668.1	NM_016084		5	9	0	0	0	0	5	9				
ATPAF2	91647	broad.mit.edu	37	17	17921887	17921887	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:17921887G>C	ENST00000474627.3	-	8	1000	c.846C>G	c.(844-846)gtC>gtG	p.V282V	ATPAF2_ENST00000469327.1_5'Flank|ATPAF2_ENST00000585101.1_Intron	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	282					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					GCTTGTGCTTGACTGTGGTGC	0.642																																						uc002gse.1		NA																	0					0						c.(844-846)GTC>GTG		ATP synthase mitochondrial F1 complex assembly							92.0	95.0	94.0					17																	17921887		2203	4300	6503	SO:0001819	synonymous_variant	91647				proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding	g.chr17:17921887G>C	AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"""Mitochondrial respiratory chain complex assembly factors"""	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.846C>G	17.37:g.17921887G>C						ATPAF2_uc002gsd.1_Intron|ATPAF2_uc002gsf.1_RNA	p.V282V	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN			8	999	-	all_neural(463;0.228)		282					A6NDE5|A8K2J2|Q6XYC7	Silent	SNP	ENST00000474627.3	37	c.846C>G	CCDS32585.1																																																																																				0.642	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131934.3	NM_145691		25	74	0	0	0	0	25	74				
UNC119	9094	broad.mit.edu	37	17	26879514	26879514	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:26879514G>A	ENST00000335765.4	-	1	172	c.62C>T	c.(61-63)tCg>tTg	p.S21L	UNC119_ENST00000484980.1_5'Flank|UNC119_ENST00000301032.4_Missense_Mutation_p.S21L	NM_005148.3	NP_005139.1	Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	21	Required for midbody localization.				cytokinesis, completion of separation (GO:0007109)|endocytosis (GO:0006897)|lipoprotein transport (GO:0042953)|negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of clathrin-mediated endocytosis (GO:1900186)|phototransduction (GO:0007602)|positive regulation of protein tyrosine kinase activity (GO:0061098)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	lipid binding (GO:0008289)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					GCTCTGGCCCGAGGGCCCCGG	0.761																																						uc002hbk.2		NA																	0					0						c.(61-63)TCG>TTG		unc119 (C.elegans) homolog isoform a							4.0	5.0	5.0					17																	26879514		1681	3643	5324	SO:0001583	missense	9094				phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction		g.chr17:26879514G>A	U40998	CCDS11233.1, CCDS11234.1	17q11.2	2014-09-17	2001-11-28		ENSG00000109103	ENSG00000109103			12565	protein-coding gene	gene with protein product	"""POC7 centriolar protein homolog A (Chlamydomonas)"""	604011	"""unc119 (C.elegans) homolog"""			8576185, 9538874	Standard	NM_005148		Approved	HRG4, POC7, POC7A	uc002hbk.2	Q13432	OTTHUMG00000132606	ENST00000335765.4:c.62C>T	17.37:g.26879514G>A	ENSP00000337040:p.Ser21Leu					UNC119_uc002hbm.2_Missense_Mutation_p.S21L	p.S21L	NM_005148	NP_005139	Q13432	U119A_HUMAN			1	133	-	Lung NSC(42;0.00431)		21					A8K8G4|F1T095|O95126	Missense_Mutation	SNP	ENST00000335765.4	37	c.62C>T	CCDS11233.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149231	0.78001	.	.	ENSG00000109103	ENST00000335765;ENST00000301032;ENST00000444148	T;T;T	0.79352	-1.21;-1.25;-1.26	4.04	3.04	0.35103	.	0.559790	0.14835	N	0.295628	T	0.64091	0.2567	N	0.22421	0.69	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.58340	-0.7653	10	0.46703	T	0.11	-1.4254	10.0395	0.42148	0.098:0.0:0.902:0.0	.	21;21	F1T095;Q13432	.;U119A_HUMAN	L	21	ENSP00000337040:S21L;ENSP00000301032:S21L;ENSP00000414639:S21L	ENSP00000301032:S21L	S	-	2	0	UNC119	23903641	1.000000	0.71417	0.090000	0.20809	0.573000	0.36030	2.752000	0.47516	0.894000	0.36317	0.454000	0.30748	TCG		0.761	UNC119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255842.2			3	9	0	0	0	0	3	9				
SUPT6H	6830	broad.mit.edu	37	17	27001375	27001375	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:27001375G>C	ENST00000314616.6	+	3	467	c.184G>C	c.(184-186)Gat>Cat	p.D62H	AC010761.13_ENST00000578819.1_RNA|SUPT6H_ENST00000347486.4_Missense_Mutation_p.D62H	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	62	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.			DDDEDEGEEDEGS -> ATAPGHPKLSEGR (in Ref. 1; AAC50821). {ECO:0000305}.	chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CAATGACGATGATGATGAAGA	0.473																																						uc002hby.2		NA																	0				ovary(2)|skin(1)	3						c.(184-186)GAT>CAT		suppressor of Ty 6 homolog							174.0	132.0	146.0					17																	27001375		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27001375G>C	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.184G>C	17.37:g.27001375G>C	ENSP00000319104:p.Asp62His					SUPT6H_uc010crt.2_Missense_Mutation_p.D62H	p.D62H	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			3	274	+	Lung NSC(42;0.00431)		62	DDDEDEGEEDEGS -> ATAPGHPKLSEGR (in Ref. 1; AAC50821).		Asp/Glu-rich.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.184G>C	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749421	0.69533	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	6.03	6.03	0.97812	.	0.105819	0.64402	D	0.000010	T	0.48314	0.1493	N	0.08118	0	0.80722	D	1	P	0.52316	0.952	P	0.51453	0.67	T	0.55823	-0.8080	9	0.59425	D	0.04	-22.7382	20.5568	0.99304	0.0:0.0:1.0:0.0	.	62	Q7KZ85	SPT6H_HUMAN	H	62	.	ENSP00000319104:D62H	D	+	1	0	SUPT6H	24025502	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.167000	0.94773	2.861000	0.98227	0.655000	0.94253	GAT		0.473	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		10	27	0	0	0	0	10	27				
PHF12	57649	broad.mit.edu	37	17	27244465	27244465	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:27244465C>G	ENST00000332830.4	-	7	1782	c.972G>C	c.(970-972)ctG>ctC	p.L324L	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000577226.1_Silent_p.L324L|PHF12_ENST00000268756.3_Silent_p.L324L	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TCTTCTGGTTCAGCTAGGGAC	0.493																																						uc002hdg.1		NA																	0				ovary(1)	1						c.(970-972)CTG>CTC		PHD finger protein 12 isoform 1							61.0	51.0	55.0					17																	27244465		2203	4300	6503	SO:0001819	synonymous_variant	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27244465C>G	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.972G>C	17.37:g.27244465C>G						PHF12_uc010wbb.1_Silent_p.L306L|PHF12_uc002hdi.1_Silent_p.L320L|PHF12_uc002hdj.1_Silent_p.L324L|PHF12_uc010crw.1_Silent_p.L27L|PHF12_uc002hdh.1_Silent_p.L107L	p.L324L	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		7	1502	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		324			Interaction with SIN3A.			Silent	SNP	ENST00000332830.4	37	c.972G>C	CCDS32598.1																																																																																				0.493	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		11	47	0	0	0	0	11	47				
CPD	1362	broad.mit.edu	37	17	28789469	28789469	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:28789469C>G	ENST00000225719.4	+	20	3974	c.3898C>G	c.(3898-3900)Ctt>Gtt	p.L1300V	CPD_ENST00000543464.2_Missense_Mutation_p.L1053V	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1300						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GCCAAGGGAGCTTGTGGTAAC	0.373																																						uc002hfb.1		NA																	0				liver(1)|skin(1)	2						c.(3898-3900)CTT>GTT		carboxypeptidase D precursor							176.0	160.0	165.0					17																	28789469		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28789469C>G	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.3898C>G	17.37:g.28789469C>G	ENSP00000225719:p.Leu1300Val					CPD_uc010wbo.1_Missense_Mutation_p.L1053V|CPD_uc010wbp.1_RNA	p.L1300V	NM_001304	NP_001295	O75976	CBPD_HUMAN			20	3913	+			1300			Helical; (Potential).		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.3898C>G	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992191	0.35131	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.10860	2.83;2.83	5.39	5.39	0.77823	Carboxypeptidase-like, regulatory domain (1);	0.185853	0.42964	D	0.000639	T	0.14917	0.0360	N	0.24115	0.695	0.51767	D	0.999933	B;D	0.58268	0.433;0.982	B;P	0.51266	0.11;0.664	T	0.01375	-1.1371	10	0.59425	D	0.04	-20.8486	18.1479	0.89663	0.0:1.0:0.0:0.0	.	1053;1300	F5GZH6;O75976	.;CBPD_HUMAN	V	1300;1053	ENSP00000225719:L1300V;ENSP00000444443:L1053V	ENSP00000225719:L1300V	L	+	1	0	CPD	25813595	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.449000	0.60034	2.506000	0.84524	0.650000	0.86243	CTT		0.373	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		20	49	0	0	0	0	20	49				
LRRC37B	114659	broad.mit.edu	37	17	30376383	30376383	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:30376383G>C	ENST00000341671.7	+	10	2651	c.2646G>C	c.(2644-2646)caG>caC	p.Q882H	LRRC37B_ENST00000584368.1_Missense_Mutation_p.Q843H|LRRC37B_ENST00000394713.3_Missense_Mutation_p.Q831H|LRRC37B_ENST00000543378.2_Missense_Mutation_p.Q800H|LRRC37B_ENST00000327564.7_Missense_Mutation_p.Q909H	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	882						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ACATGGAACAGAATGAACAGA	0.433																																						uc002hgu.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2644-2646)CAG>CAC		leucine rich repeat containing 37B precursor							29.0	30.0	30.0					17																	30376383		2201	4299	6500	SO:0001583	missense	114659					integral to membrane		g.chr17:30376383G>C	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2646G>C	17.37:g.30376383G>C	ENSP00000340519:p.Gln882His					LRRC37B_uc010wbx.1_Missense_Mutation_p.Q800H|LRRC37B_uc010csu.2_Missense_Mutation_p.Q831H	p.Q882H	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN			10	2657	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	882			Potential.|Extracellular (Potential).		Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.2646G>C	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	0.886	-0.727258	0.03158	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	1.78	-0.562	0.11781	.	.	.	.	.	T	0.48926	0.1527	M	0.76574	2.34	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.49143	-0.8970	9	0.59425	D	0.04	.	7.4213	0.27073	0.0:0.5395:0.4605:0.0	.	831;882	Q17RC9;Q96QE4	.;LR37B_HUMAN	H	800;909;831;882	ENSP00000443345:Q800H;ENSP00000332536:Q909H;ENSP00000378202:Q831H;ENSP00000340519:Q882H	ENSP00000332536:Q909H	Q	+	3	2	LRRC37B	27400496	0.000000	0.05858	0.136000	0.22124	0.057000	0.15508	-0.550000	0.06034	-0.079000	0.12707	-0.735000	0.03563	CAG		0.433	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		4	9	0	0	0	0	4	9				
CCL2	6347	broad.mit.edu	37	17	32583786	32583786	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:32583786G>C	ENST00000225831.4	+	3	305	c.240G>C	c.(238-240)caG>caC	p.Q80H	CCL2_ENST00000580907.1_3'UTR|AC005549.3_ENST00000601918.1_5'Flank	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	80					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|aging (GO:0007568)|angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeleton organization (GO:0007010)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|helper T cell extravasation (GO:0035684)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|maternal process involved in parturition (GO:0060137)|monocyte chemotaxis (GO:0002548)|negative regulation of angiogenesis (GO:0016525)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of natural killer cell chemotaxis (GO:2000502)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|organ regeneration (GO:0031100)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of calcium ion import (GO:0090280)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of T cell activation (GO:0050870)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of vascular endothelial growth factor production (GO:0010574)|response to activity (GO:0014823)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to vitamin B3 (GO:0033552)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	CCR2 chemokine receptor binding (GO:0031727)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Danazol(DB01406)|Mimosine(DB01055)	ACCCCAAGCAGAAGTGGGTTC	0.488																																						uc002hhy.2		NA																	0				pancreas(1)	1						c.(238-240)CAG>CAC		small inducible cytokine A2 precursor	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)						113.0	92.0	99.0					17																	32583786		2203	4300	6503	SO:0001583	missense	6347				angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity	g.chr17:32583786G>C	BC009716	CCDS11277.1	17q11.2-q21.1	2013-02-25	2002-08-22	2002-08-23	ENSG00000108691	ENSG00000108691		"""Chemokine ligands"", ""Endogenous ligands"""	10618	protein-coding gene	gene with protein product	"""monocyte chemotactic protein 1, homologous to mouse Sig-je"", ""monocyte chemoattractant protein-1"", ""monocyte chemotactic and activating factor"", ""monocyte secretory protein JE"", ""small inducible cytokine subfamily A (Cys-Cys), member 2"""	158105	"""small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je)"""	SCYA2		2004761	Standard	NM_002982		Approved	MCP1, MCP-1, MCAF, SMC-CF, GDCF-2, HC11, MGC9434	uc002hhy.3	P13500	OTTHUMG00000132887	ENST00000225831.4:c.240G>C	17.37:g.32583786G>C	ENSP00000225831:p.Gln80His						p.Q80H	NM_002982	NP_002973	P13500	CCL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	3	313	+	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)	80	Missing: 90% reduction in activity.|Missing: 83% reduction in activity.				B2R4V3|Q9UDF3	Missense_Mutation	SNP	ENST00000225831.4	37	c.240G>C	CCDS11277.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647924	0.29336	.	.	ENSG00000108691	ENST00000225831	T	0.04275	3.66	4.79	2.73	0.32206	Chemokine interleukin-8-like domain (3);	1.635250	0.03899	N	0.280008	T	0.16342	0.0393	.	.	.	0.09310	N	1	D	0.64830	0.994	D	0.64687	0.928	T	0.10870	-1.0611	9	0.72032	D	0.01	.	5.8312	0.18581	0.1036:0.1986:0.6979:0.0	.	80	P13500	CCL2_HUMAN	H	80	ENSP00000225831:Q80H	ENSP00000225831:Q80H	Q	+	3	2	CCL2	29607899	0.063000	0.20901	0.001000	0.08648	0.164000	0.22412	1.250000	0.32850	1.311000	0.45024	0.491000	0.48974	CAG		0.488	CCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256384.2	NM_002982		20	38	0	0	0	0	20	38				
GPR179	440435	broad.mit.edu	37	17	36499096	36499096	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:36499096C>T	ENST00000342292.4	-	1	597	c.577G>A	c.(577-579)Gac>Aac	p.D193N		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	193					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCAGGGGTGTCCAGGTCCCCA	0.637																																						uc002hpz.2		NA																	0				ovary(3)	3						c.(577-579)GAC>AAC		GPR158-like 1 precursor							86.0	91.0	90.0					17																	36499096		1985	4141	6126	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36499096C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.577G>A	17.37:g.36499096C>T	ENSP00000345060:p.Asp193Asn						p.D193N	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			1	598	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	193			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.577G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214754	0.39102	.	.	ENSG00000188888	ENST00000342292	T	0.52295	0.67	4.95	3.96	0.45880	.	0.218263	0.35615	N	0.003083	T	0.36166	0.0957	L	0.44542	1.39	0.09310	N	1	P	0.34462	0.454	B	0.30251	0.113	T	0.37009	-0.9724	10	0.66056	D	0.02	-11.9423	8.8599	0.35251	0.0:0.7627:0.1542:0.0831	.	193	Q6PRD1	GP179_HUMAN	N	193	ENSP00000345060:D193N	ENSP00000345060:D193N	D	-	1	0	GPR179	33752622	0.048000	0.20356	0.731000	0.30826	0.819000	0.46315	1.457000	0.35212	1.430000	0.47334	0.655000	0.94253	GAC		0.637	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			18	77	0	0	0	0	18	77				
PGAP3	93210	broad.mit.edu	37	17	37842184	37842184	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:37842184G>A	ENST00000300658.4	-	2	362	c.270C>T	c.(268-270)ttC>ttT	p.F90F	ERBB2_ENST00000584601.1_5'Flank|PGAP3_ENST00000579146.1_Silent_p.F90F|ERBB2_ENST00000406381.2_5'Flank|ERBB2_ENST00000578199.1_5'Flank|PGAP3_ENST00000429199.2_Silent_p.F90F|PGAP3_ENST00000378011.4_Silent_p.F90F	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	90					GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CCTTGCCATGGAACTGAGGCA	0.537																																						uc002hsj.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(268-270)TTC>TTT		per1-like domain containing 1 precursor							170.0	104.0	126.0					17																	37842184		2203	4300	6503	SO:0001819	synonymous_variant	93210				GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds	g.chr17:37842184G>A	AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395			23719	protein-coding gene	gene with protein product	"""post-GPI attachment to proteins 3"""	611801	"""per1-like domain containing 1"""	PERLD1		15010812, 17021251, 17314402	Standard	NM_001291728		Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000300658.4:c.270C>T	17.37:g.37842184G>A						ERBB2_uc002hsm.2_5'Flank|ERBB2_uc010cwa.2_5'Flank|PGAP3_uc010cvy.2_5'Flank|PGAP3_uc010wej.1_Silent_p.F90F|PGAP3_uc002hsk.2_Silent_p.F90F|PGAP3_uc010cvz.2_Silent_p.F90F|ERBB2_uc002hsl.2_5'Flank	p.F90F	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN			2	313	-			90			Lumenal (Potential).		B4DGK7|Q86Z03|Q8NBJ8	Silent	SNP	ENST00000300658.4	37	c.270C>T	CCDS32641.1																																																																																				0.537	PGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444825.2	NM_033419		6	32	0	0	0	0	6	32				
WNK4	65266	broad.mit.edu	37	17	40936541	40936541	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:40936541G>C	ENST00000246914.5	+	4	1135	c.1114G>C	c.(1114-1116)Gag>Cag	p.E372Q		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGCCACCTCTGAGTACCCGTA	0.597																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2		NA																	0				ovary(3)|skin(3)|stomach(1)	7						c.(1114-1116)GAG>CAG		WNK lysine deficient protein kinase 4							95.0	76.0	83.0					17																	40936541		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40936541G>C	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1114G>C	17.37:g.40936541G>C	ENSP00000246914:p.Glu372Gln					WNK4_uc010wgx.1_Silent_p.L65L|WNK4_uc002ibk.1_Missense_Mutation_p.E144Q|WNK4_uc010wgy.1_5'Flank	p.E372Q	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	4	1135	+		Breast(137;0.000143)	372			Protein kinase.		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.1114G>C	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	G	32	5.166137	0.94768	.	.	ENSG00000126562	ENST00000246914;ENST00000316085	T	0.66280	-0.2	4.61	4.61	0.57282	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49305	D	0.000155	T	0.72203	0.3431	L	0.36672	1.1	0.49582	D	0.999805	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76072	-0.3093	10	0.87932	D	0	-18.8082	17.6374	0.88127	0.0:0.0:1.0:0.0	.	372;372	B0LPI0;Q96J92	.;WNK4_HUMAN	Q	372;144	ENSP00000246914:E372Q	ENSP00000246914:E372Q	E	+	1	0	WNK4	38190067	1.000000	0.71417	0.979000	0.43373	0.982000	0.71751	9.657000	0.98554	2.379000	0.81126	0.561000	0.74099	GAG		0.597	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			6	36	0	0	0	0	6	36				
HOXB7	3217	broad.mit.edu	37	17	46685395	46685395	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:46685395C>A	ENST00000239165.7	-	2	561	c.463G>T	c.(463-465)Gaa>Taa	p.E155*	HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000494420.1_RNA|HOXB-AS3_ENST00000491264.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB7_ENST00000567101.2_5'UTR	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	155					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						TAGTGAAATTCTTTCTCCAGC	0.542																																						uc002inv.2		NA																	0					0						c.(463-465)GAA>TAA		homeobox B7							86.0	86.0	86.0					17																	46685395		2203	4300	6503	SO:0001587	stop_gained	3217					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46685395C>A		CCDS11532.1	17q21.32	2013-05-22	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	5118	protein-coding gene	gene with protein product		142962	"""homeo box B7"""	HOX2, HOX2C		1973146, 1358459	Standard	NM_004502		Approved		uc002inv.3	P09629	OTTHUMG00000170231	ENST00000239165.7:c.463G>T	17.37:g.46685395C>A	ENSP00000239165:p.Glu155*						p.E155*	NM_004502	NP_004493	P09629	HXB7_HUMAN			2	566	-			155			Homeobox.		A8K3N8|Q15957|Q53FN3|Q96BQ6	Nonsense_Mutation	SNP	ENST00000239165.7	37	c.463G>T	CCDS11532.1	.	.	.	.	.	.	.	.	.	.	C	36	5.825318	0.96996	.	.	ENSG00000120087	ENST00000239165	.	.	.	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1969	0.86895	0.0:1.0:0.0:0.0	.	.	.	.	X	155	.	ENSP00000239165:E155X	E	-	1	0	HOXB7	44040394	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.643000	0.83403	2.357000	0.79964	0.563000	0.77884	GAA		0.542	HOXB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358097.3			29	90	1	0	7.26e-15	7.85e-15	29	90				
CACNA1G	8913	broad.mit.edu	37	17	48683370	48683370	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:48683370G>C	ENST00000359106.5	+	23	4408	c.4408G>C	c.(4408-4410)Gac>Cac	p.D1470H	CACNA1G_ENST00000507609.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1447H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D1470H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D1447H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D1447H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D1470H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.D1447H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D1447H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.D1470H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D1447H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D1470H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D1447H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D1447H	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1470					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTACAACTTTGACAACCTTGG	0.587																																						uc002irk.1		NA																	0				breast(1)	1						c.(4408-4410)GAC>CAC		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						51.0	59.0	56.0					17																	48683370		2196	4295	6491	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48683370G>C	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4408G>C	17.37:g.48683370G>C	ENSP00000352011:p.Asp1470His					CACNA1G_uc002iri.1_Missense_Mutation_p.D1470H|CACNA1G_uc002irj.1_Missense_Mutation_p.D1447H|CACNA1G_uc002irl.1_Missense_Mutation_p.D1447H|CACNA1G_uc002irm.1_Missense_Mutation_p.D1447H|CACNA1G_uc002irn.1_Missense_Mutation_p.D1447H|CACNA1G_uc002iro.1_Missense_Mutation_p.D1447H|CACNA1G_uc002irp.1_Missense_Mutation_p.D1470H|CACNA1G_uc002irq.1_Missense_Mutation_p.D1447H|CACNA1G_uc002irr.1_Missense_Mutation_p.D1470H|CACNA1G_uc002irs.1_Missense_Mutation_p.D1470H|CACNA1G_uc002irt.1_Missense_Mutation_p.D1470H|CACNA1G_uc002irv.1_Missense_Mutation_p.D1470H|CACNA1G_uc002irw.1_Missense_Mutation_p.D1447H|CACNA1G_uc002iru.1_Missense_Mutation_p.D1447H|CACNA1G_uc002irx.1_Missense_Mutation_p.D1383H|CACNA1G_uc002iry.1_Missense_Mutation_p.D1383H|CACNA1G_uc002irz.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isa.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isb.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isc.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isd.1_Missense_Mutation_p.D1383H|CACNA1G_uc002ise.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isf.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isg.1_Missense_Mutation_p.D1383H|CACNA1G_uc002ish.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isi.1_Missense_Mutation_p.D1360H|CACNA1G_uc002isj.2_Missense_Mutation_p.D194H	p.D1470H	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		23	4780	+	Breast(11;6.7e-17)		1470			Extracellular (Potential).|III.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.4408G>C	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	28.8	4.955648	0.92726	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;ENST00000506520	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98947	-4.42;-4.42;-5.26;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42	5.44	5.44	0.79542	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99453	0.9806	H	0.95260	3.645	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999;0.999;1.0;1.0;1.0;0.999;0.997;1.0;1.0;0.999;0.999;1.0;0.999;1.0;0.998	D	0.98438	1.0585	10	0.87932	D	0	.	19.279	0.94044	0.0:0.0:1.0:0.0	.	500;1447;1470;1470;1470;1470;1470;1470;1470;1470;1470;1470;1447;1470;1470;1470;1470;1470;1447;1470;1447;1447;1447;1447;1470;1447;1470	B4DKD3;Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	H	1447;1447;1470;1447;1447;1447;1470;1470;1447;1470;1470;1470;1470;1470;1470;1447;1470;1470;1470;1470;1447;1470;1470;1470;1470;1470;285	ENSP00000353990:D1447H;ENSP00000339302:D1447H;ENSP00000392390:D1470H;ENSP00000347078:D1447H;ENSP00000409759:D1447H;ENSP00000425522:D1447H;ENSP00000426261:D1470H;ENSP00000425451:D1470H;ENSP00000422407:D1447H;ENSP00000426814:D1470H;ENSP00000427238:D1470H;ENSP00000423112:D1470H;ENSP00000420918:D1470H;ENSP00000426172:D1470H;ENSP00000423045:D1470H;ENSP00000427173:D1447H;ENSP00000426098:D1470H;ENSP00000425698:D1470H;ENSP00000426232:D1470H;ENSP00000423317:D1470H;ENSP00000350979:D1447H;ENSP00000352011:D1470H;ENSP00000414388:D1470H;ENSP00000423155:D1470H;ENSP00000422268:D1470H;ENSP00000421518:D1470H;ENSP00000427697:D285H	ENSP00000339302:D1447H	D	+	1	0	CACNA1G	46038369	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.560000	0.86352	0.655000	0.94253	GAC		0.587	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		21	61	0	0	0	0	21	61				
CACNA1G	8913	broad.mit.edu	37	17	48684289	48684289	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:48684289C>G	ENST00000359106.5	+	24	4451	c.4451C>G	c.(4450-4452)tCc>tGc	p.S1484C	CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1461C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S1484C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S1461C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1461C|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1484C|CACNA1G_ENST00000352832.5_Missense_Mutation_p.S1461C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1461C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1461C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1484C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1461C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1461C	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1484					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTTTTGGCCTCCAAGGATGGT	0.577																																						uc002irk.1		NA																	0				breast(1)	1						c.(4450-4452)TCC>TGC		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						142.0	135.0	138.0					17																	48684289		2125	4215	6340	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48684289C>G	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4451C>G	17.37:g.48684289C>G	ENSP00000352011:p.Ser1484Cys					CACNA1G_uc002irj.1_Missense_Mutation_p.S1461C|CACNA1G_uc002irl.1_Missense_Mutation_p.S1461C|CACNA1G_uc002irm.1_Missense_Mutation_p.S1461C|CACNA1G_uc002irn.1_Missense_Mutation_p.S1461C|CACNA1G_uc002iro.1_Missense_Mutation_p.S1461C|CACNA1G_uc002irp.1_Missense_Mutation_p.S1484C|CACNA1G_uc002irq.1_Missense_Mutation_p.S1461C|CACNA1G_uc002irr.1_Missense_Mutation_p.S1484C|CACNA1G_uc002irs.1_Missense_Mutation_p.S1484C|CACNA1G_uc002irt.1_Missense_Mutation_p.S1484C|CACNA1G_uc002irv.1_Missense_Mutation_p.S1484C|CACNA1G_uc002irw.1_Missense_Mutation_p.S1461C|CACNA1G_uc002iru.1_Missense_Mutation_p.S1461C|CACNA1G_uc002irx.1_Missense_Mutation_p.S1397C|CACNA1G_uc002iry.1_Missense_Mutation_p.S1397C|CACNA1G_uc002irz.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isa.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isb.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isc.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isd.1_Missense_Mutation_p.S1397C|CACNA1G_uc002ise.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isf.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isg.1_Missense_Mutation_p.S1397C|CACNA1G_uc002ish.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isi.1_Missense_Mutation_p.S1374C|CACNA1G_uc002isj.2_Missense_Mutation_p.S208C	p.S1484C	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		24	4823	+	Breast(11;6.7e-17)		1484			Extracellular (Potential).|III.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.4451C>G	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	28.1	4.886930	0.91814	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;ENST00000506520	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98012	-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66	5.64	5.64	0.86602	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98801	0.9596	M	0.83852	2.665	0.80722	D	1	P;D;P;D;D;D;D;D;D;D;P;D;B;P;D;D;P;B;D;D;D;D;B;D;B;D	0.89917	0.848;1.0;0.576;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.551;1.0;0.311;0.564;1.0;1.0;0.782;0.193;0.999;1.0;1.0;1.0;0.209;1.0;0.329;1.0	P;D;P;D;D;D;D;D;D;D;P;D;B;P;D;D;P;B;D;D;D;D;B;D;B;D	0.97110	0.617;0.997;0.516;0.999;0.999;1.0;0.999;0.999;1.0;0.998;0.516;1.0;0.276;0.462;1.0;0.998;0.462;0.208;0.992;1.0;1.0;0.998;0.275;1.0;0.398;0.999	D	0.99364	1.0918	10	0.56958	D	0.05	.	19.7167	0.96124	0.0:1.0:0.0:0.0	.	514;1461;1484;1484;1484;1484;1484;1484;1484;1484;1484;1484;1461;1484;1484;1484;1484;1484;1461;1484;1461;1461;1461;1461;1484;1461	B4DKD3;Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	C	1461;1461;1461;1461;1461;1484;1484;1461;1484;1484;1484;1484;1484;1484;1461;1484;1484;1484;1484;1461;1484;1484;1484;1484;1484;299	ENSP00000353990:S1461C;ENSP00000339302:S1461C;ENSP00000347078:S1461C;ENSP00000409759:S1461C;ENSP00000425522:S1461C;ENSP00000426261:S1484C;ENSP00000425451:S1484C;ENSP00000422407:S1461C;ENSP00000426814:S1484C;ENSP00000427238:S1484C;ENSP00000423112:S1484C;ENSP00000420918:S1484C;ENSP00000426172:S1484C;ENSP00000423045:S1484C;ENSP00000427173:S1461C;ENSP00000426098:S1484C;ENSP00000425698:S1484C;ENSP00000426232:S1484C;ENSP00000423317:S1484C;ENSP00000350979:S1461C;ENSP00000352011:S1484C;ENSP00000414388:S1484C;ENSP00000423155:S1484C;ENSP00000422268:S1484C;ENSP00000421518:S1484C;ENSP00000427697:S299C	ENSP00000339302:S1461C	S	+	2	0	CACNA1G	46039288	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	4.873000	0.63057	2.667000	0.90743	0.655000	0.94253	TCC		0.577	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		16	41	0	0	0	0	16	41				
OR4D2	124538	broad.mit.edu	37	17	56247319	56247319	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:56247319C>G	ENST00000545221.1	+	1	303	c.303C>G	c.(301-303)atC>atG	p.I101M		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TGGGTCAGATCTTCTTCTTCC	0.527																																						uc010wnp.1		NA																	0				ovary(1)|breast(1)	2						c.(301-303)ATC>ATG		olfactory receptor, family 4, subfamily D,							104.0	95.0	98.0					17																	56247319		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247319C>G		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.303C>G	17.37:g.56247319C>G	ENSP00000441354:p.Ile101Met						p.I101M	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			1	303	+			101			Helical; Name=3; (Potential).		Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.303C>G	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	C	2.884	-0.231183	0.05983	.	.	ENSG00000255713	ENST00000545221	T	0.00498	6.97	5.71	1.16	0.20824	GPCR, rhodopsin-like superfamily (1);	0.348651	0.24405	N	0.038811	T	0.00178	0.0005	N	0.01817	-0.705	0.19300	N	0.99998	B	0.30542	0.284	B	0.31245	0.126	T	0.35051	-0.9804	10	0.23302	T	0.38	-11.621	2.1552	0.03810	0.2636:0.45:0.1289:0.1575	.	101	P58180	OR4D2_HUMAN	M	101	ENSP00000441354:I101M	ENSP00000441354:I101M	I	+	3	3	OR4D2	53602318	0.020000	0.18652	0.864000	0.33941	0.657000	0.38888	-0.819000	0.04462	0.410000	0.25675	0.609000	0.83330	ATC		0.527	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			10	121	0	0	0	0	10	121				
CACNG4	27092	broad.mit.edu	37	17	65026887	65026887	+	Missense_Mutation	SNP	G	G	A	rs370622371		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:65026887G>A	ENST00000262138.3	+	4	753	c.751G>A	c.(751-753)Gag>Aag	p.E251K	RP11-74H8.1_ENST00000579138.1_RNA|AC005544.1_ENST00000375684.1_5'Flank	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	251					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			AAGGTCCACCGAGGCCTCGCC	0.632																																						uc002jft.1		NA																	0				central_nervous_system(1)	1						c.(751-753)GAG>AAG		voltage-dependent calcium channel gamma-4		G	LYS/GLU	0,4406		0,0,2203	59.0	59.0	59.0		751	5.0	1.0	17		59	1,8599	1.2+/-3.3	0,1,4299	no	missense	CACNG4	NM_014405.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	251/328	65026887	1,13005	2203	4300	6503	SO:0001583	missense	27092				membrane depolarization|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 activity	g.chr17:65026887G>A	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.751G>A	17.37:g.65026887G>A	ENSP00000262138:p.Glu251Lys						p.E251K	NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		4	766	+	all_cancers(12;9.86e-11)		251			Cytoplasmic (Potential).		B2RCK0	Missense_Mutation	SNP	ENST00000262138.3	37	c.751G>A	CCDS11667.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989909	0.74589	0.0	1.16E-4	ENSG00000075461	ENST00000262138	T	0.60040	0.22	4.98	4.98	0.66077	.	0.052332	0.85682	D	0.000000	T	0.59676	0.2211	M	0.74881	2.28	0.80722	D	1	D	0.56521	0.976	B	0.41299	0.353	T	0.65380	-0.6182	10	0.35671	T	0.21	-20.5824	18.3458	0.90321	0.0:0.0:1.0:0.0	.	251	Q9UBN1	CCG4_HUMAN	K	251	ENSP00000262138:E251K	ENSP00000262138:E251K	E	+	1	0	CACNG4	62457349	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	9.325000	0.96381	2.344000	0.79699	0.650000	0.86243	GAG		0.632	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		24	58	0	0	0	0	24	58				
FAM20A	54757	broad.mit.edu	37	17	66548055	66548055	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:66548055C>T	ENST00000592554.1	-	4	1400	c.678G>A	c.(676-678)ctG>ctA	p.L226L	FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	226					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CCGAGAACCTCAGCACCAGCT	0.552																																						uc002jho.2		NA																	0					0						c.(676-678)CTG>CTA		family with sequence similarity 20, member A							71.0	50.0	57.0					17																	66548055		2203	4300	6503	SO:0001819	synonymous_variant	54757					extracellular region		g.chr17:66548055C>T	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.678G>A	17.37:g.66548055C>T						FAM20A_uc010wqp.1_Silent_p.L88L|FAM20A_uc002jhn.2_5'UTR	p.L226L	NM_017565	NP_060035	Q96MK3	FA20A_HUMAN			4	966	-	Breast(10;1.64e-13)		226					B2RN47|B2RN49|Q9UF95	Silent	SNP	ENST00000592554.1	37	c.678G>A	CCDS11679.1																																																																																				0.552	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		3	3	0	0	0	0	3	3				
EVPL	2125	broad.mit.edu	37	17	74018542	74018542	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:74018542C>T	ENST00000301607.3	-	5	811	c.558G>A	c.(556-558)caG>caA	p.Q186Q	EVPL_ENST00000586740.1_Silent_p.Q186Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	186	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGATCTCCTTCTGCAGGATGT	0.672																																						uc002jqi.2		NA																	0				pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(556-558)CAG>CAA		envoplakin							64.0	60.0	61.0					17																	74018542		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74018542C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.558G>A	17.37:g.74018542C>T						EVPL_uc010wss.1_Silent_p.Q186Q|EVPL_uc010wst.1_5'UTR	p.Q186Q	NM_001988	NP_001979	Q92817	EVPL_HUMAN			5	786	-			186			Globular 1.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.558G>A	CCDS11737.1																																																																																				0.672	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		3	44	0	0	0	0	3	44				
DNAH17	8632	broad.mit.edu	37	17	76455098	76455098	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:76455098G>A	ENST00000585328.1	-	61	9955	c.9831C>T	c.(9829-9831)atC>atT	p.I3277I	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Silent_p.I3268I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3268	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTTGTTTTTGATCCGGGACA	0.582																																						uc010dhp.1		NA																	0				ovary(6)|breast(2)|skin(1)	9						c.(844-846)ATC>ATT		SubName: Full=DNAH17 variant protein; Flags: Fragment;							99.0	92.0	94.0					17																	76455098		2203	4300	6503	SO:0001819	synonymous_variant	8632							g.chr17:76455098G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9831C>T	17.37:g.76455098G>A						DNAH17_uc002jvs.2_RNA	p.I282I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		6	1068	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.846C>T																																																																																					0.582	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		21	61	0	0	0	0	21	61				
DNAH17	8632	broad.mit.edu	37	17	76455962	76455962	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:76455962G>A	ENST00000585328.1	-	60	9666	c.9542C>T	c.(9541-9543)gCg>gTg	p.A3181V	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.A3172V	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3172	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATCTTGGCCGCCTTCCAGCT	0.592																																						uc010dhp.1		NA																	0				ovary(6)|breast(2)|skin(1)	9						c.(556-558)GCG>GTG		SubName: Full=DNAH17 variant protein; Flags: Fragment;							127.0	95.0	106.0					17																	76455962		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76455962G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9542C>T	17.37:g.76455962G>A	ENSP00000465516:p.Ala3181Val					DNAH17_uc002jvs.2_RNA	p.A186V					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		5	779	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.557C>T		.	.	.	.	.	.	.	.	.	.	G	27.1	4.800409	0.90538	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.80214	-1.35	4.89	4.89	0.63831	.	0.109710	0.40469	N	0.001086	D	0.90594	0.7051	M	0.90082	3.085	0.43351	D	0.995415	D	0.65815	0.995	P	0.61132	0.884	D	0.92874	0.6317	10	0.87932	D	0	.	17.6619	0.88195	0.0:0.0:1.0:0.0	.	3181	E7EUM8	.	V	3181;3172	ENSP00000374490:A3172V	ENSP00000300671:A3181V	A	-	2	0	DNAH17	73967557	1.000000	0.71417	0.912000	0.35992	0.918000	0.54935	7.213000	0.77950	2.243000	0.73865	0.511000	0.50034	GCG		0.592	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		41	34	0	0	0	0	41	34				
RNF213	57674	broad.mit.edu	37	17	78358943	78358943	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:78358943C>T	ENST00000582970.1	+	60	14570	c.14427C>T	c.(14425-14427)atC>atT	p.I4809I	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Silent_p.I4858I|RNF213_ENST00000336301.6_Silent_p.I2882I	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4809					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACAGCTCCATCAGAGGCTTCC	0.532																																						uc002jyh.1		NA																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(8644-8646)ATC>ATT		ring finger protein 213							92.0	79.0	84.0					17																	78358943		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78358943C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14427C>T	17.37:g.78358943C>T						uc002jyi.1_Intron|RNF213_uc010dhx.1_5'Flank	p.I2882I	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		35	8869	+	all_neural(118;0.0538)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.8646C>T	CCDS58606.1																																																																																				0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		11	44	0	0	0	0	11	44				
NPLOC4	55666	broad.mit.edu	37	17	79563226	79563226	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:79563226C>G	ENST00000331134.6	-	11	1251	c.1036G>C	c.(1036-1038)Gac>Cac	p.D346H	NPLOC4_ENST00000539314.1_Missense_Mutation_p.D185H|NPLOC4_ENST00000374747.5_Missense_Mutation_p.D346H	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	346					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TTCTGGAAGTCTCCTGCAGTG	0.443																																						uc002kat.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1036-1038)GAC>CAC		nuclear protein localization 4							110.0	108.0	109.0					17																	79563226		1900	4122	6022	SO:0001583	missense	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79563226C>G	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1036G>C	17.37:g.79563226C>G	ENSP00000331487:p.Asp346His					NPLOC4_uc002kau.3_Missense_Mutation_p.D346H|NPLOC4_uc010wur.1_Missense_Mutation_p.D185H	p.D346H	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		11	1218	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		346					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	c.1036G>C	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	C	7.426	0.637659	0.14386	.	.	ENSG00000182446	ENST00000331134;ENST00000374747;ENST00000539314	.	.	.	5.63	3.37	0.38596	Nuclear pore localisation protein NPL4 (1);	0.216664	0.48767	D	0.000162	T	0.10723	0.0262	N	0.01800	-0.715	0.29505	N	0.85462	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.07947	-1.0746	9	0.21540	T	0.41	-34.3511	1.3081	0.02092	0.3955:0.2847:0.1933:0.1265	.	185;346;346	B4DG89;Q8TAT6-2;Q8TAT6	.;.;NPL4_HUMAN	H	346;345;185	.	ENSP00000331487:D346H	D	-	1	0	NPLOC4	77173664	0.506000	0.26139	0.994000	0.49952	0.910000	0.53928	0.944000	0.29043	1.319000	0.45190	0.650000	0.86243	GAC		0.443	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			24	59	0	0	0	0	24	59				
P4HB	5034	broad.mit.edu	37	17	79813047	79813047	+	Missense_Mutation	SNP	C	C	G	rs199956742		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:79813047C>G	ENST00000331483.4	-	4	817	c.595G>C	c.(595-597)Gac>Cac	p.D199H	P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Missense_Mutation_p.D155H	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	199					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)	p.D199H(1)		NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CCATCTTTGTCGAGCTGGTAT	0.542																																					Colon(49;444 983 1296 7887 42561)	uc002kbn.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(595-597)GAC>CAC		prolyl 4-hydroxylase, beta subunit precursor							257.0	229.0	238.0					17																	79813047		2203	4300	6503	SO:0001583	missense	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79813047C>G	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.595G>C	17.37:g.79813047C>G	ENSP00000327801:p.Asp199His					P4HB_uc002kbm.1_5'UTR	p.D199H	NM_000918	NP_000909	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		4	792	-	all_neural(118;0.0878)|Ovarian(332;0.12)		199					B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	ENST00000331483.4	37	c.595G>C	CCDS11787.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383939	0.25031	.	.	ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463	T	0.23950	1.88	4.58	0.19	0.15125	Thioredoxin-like fold (2);	0.839514	0.11281	N	0.580286	T	0.28267	0.0698	M	0.79926	2.475	0.09310	N	1	B	0.09022	0.002	B	0.16289	0.015	T	0.31833	-0.9929	10	0.49607	T	0.09	.	5.7012	0.17883	0.0:0.4515:0.1506:0.3979	.	199	P07237	PDIA1_HUMAN	H	199;142;183	ENSP00000327801:D199H	ENSP00000327801:D199H	D	-	1	0	P4HB	77406336	0.795000	0.28851	0.003000	0.11579	0.962000	0.63368	1.447000	0.35101	-0.177000	0.10690	0.462000	0.41574	GAC		0.542	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		65	197	0	0	0	0	65	197				
NOTUM	147111	broad.mit.edu	37	17	79916266	79916266	+	Silent	SNP	G	G	A	rs530981918		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:79916266G>A	ENST00000409678.3	-	5	920	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	179						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGTAGGGGATGAAGCTGCAAC	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16234	0.0		0.0	False		,,,				2504	0.0					uc010wvg.1		NA																	0					0						c.(535-537)TTC>TTT		notum pectinacetylesterase homolog precursor							69.0	61.0	64.0					17																	79916266		2202	4300	6502	SO:0001819	synonymous_variant	147111					extracellular region	hydrolase activity	g.chr17:79916266G>A	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.537C>T	17.37:g.79916266G>A							p.F179F	NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		5	809	-	all_neural(118;0.0878)|Ovarian(332;0.12)		179					Q8N410|Q8NI82	Silent	SNP	ENST00000409678.3	37	c.537C>T	CCDS32771.2																																																																																				0.612	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2	NM_178493		11	44	0	0	0	0	11	44				
FASN	2194	broad.mit.edu	37	17	80044282	80044282	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:80044282G>C	ENST00000306749.2	-	22	3798	c.3580C>G	c.(3580-3582)Ctg>Gtg	p.L1194V		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1194					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TCCAGCTGCAGGTTCCCGTTG	0.697																																					Colon(59;314 1043 11189 28578 32273)	uc002kdu.2		NA																	0				central_nervous_system(1)	1						c.(3580-3582)CTG>GTG		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						19.0	22.0	21.0					17																	80044282		2196	4286	6482	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80044282G>C	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.3580C>G	17.37:g.80044282G>C	ENSP00000304592:p.Leu1194Val					FASN_uc002kdw.1_Missense_Mutation_p.L410V	p.L1194V	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		22	3697	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1194					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.3580C>G	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258941	0.23051	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.48522	0.81	4.73	2.68	0.31781	.	0.000000	0.64402	D	0.000004	T	0.31979	0.0814	L	0.32530	0.975	0.54753	D	0.999984	P	0.51653	0.947	B	0.39185	0.293	T	0.06092	-1.0846	10	0.29301	T	0.29	-10.0152	11.1387	0.48390	0.156:0.0:0.844:0.0	.	1194	P49327	FAS_HUMAN	V	1194;159	ENSP00000304592:L1194V	ENSP00000304592:L1194V	L	-	1	2	FASN	77637571	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	4.121000	0.57904	0.981000	0.38548	0.491000	0.48974	CTG		0.697	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		12	27	0	0	0	0	12	27				
C17orf62	79415	broad.mit.edu	37	17	80405459	80405459	+	Missense_Mutation	SNP	C	C	T	rs142773924		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:80405459C>T	ENST00000437807.2	-	4	441	c.124G>A	c.(124-126)Gga>Aga	p.G42R	C17orf62_ENST00000578919.1_Missense_Mutation_p.G42R|C17orf62_ENST00000577732.1_Missense_Mutation_p.G42R|C17orf62_ENST00000583359.1_5'UTR|C17orf62_ENST00000583617.1_Missense_Mutation_p.G42R|C17orf62_ENST00000342572.8_Intron|C17orf62_ENST00000306645.5_Missense_Mutation_p.G42R|C17orf62_ENST00000577436.1_Intron|C17orf62_ENST00000585080.1_Missense_Mutation_p.G42R|C17orf62_ENST00000434650.2_Intron|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000585064.1_Missense_Mutation_p.G42R|C17orf62_ENST00000578913.1_Missense_Mutation_p.G42R	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	42						integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCTTTACCTCCGCTGTAGTAG	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		13456	0.001		0.0	False		,,,				2504	0.0					uc002kez.2		NA																	0					0						c.(124-126)GGA>AGA		hypothetical protein LOC79415 isoform a							21.0	19.0	19.0					17																	80405459		2201	4293	6494	SO:0001583	missense	79415					integral to membrane	protein binding	g.chr17:80405459C>T	AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.124G>A	17.37:g.80405459C>T	ENSP00000388909:p.Gly42Arg					C17orf62_uc002kex.2_5'Flank|C17orf62_uc002key.2_5'UTR|C17orf62_uc002kfa.2_Missense_Mutation_p.G42R|C17orf62_uc010dir.2_Missense_Mutation_p.G42R|C17orf62_uc002kfb.3_Missense_Mutation_p.G42R|C17orf62_uc002kfc.3_Intron|C17orf62_uc002kfd.3_5'UTR|C17orf62_uc002kfe.3_Intron|C17orf62_uc010dis.1_Missense_Mutation_p.G42R	p.G42R	NM_001100407	NP_001093877	Q9BQA9	CQ062_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		2	172	-	Breast(20;0.00106)|all_neural(118;0.0804)		42			Helical; (Potential).		E1B6X3|Q96NR1	Missense_Mutation	SNP	ENST00000437807.2	37	c.124G>A	CCDS32776.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.31	2.795825	0.50208	.	.	ENSG00000178927	ENST00000437807;ENST00000306645	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	T	0.60340	0.2261	L	0.56769	1.78	0.80722	D	1	D	0.62365	0.991	P	0.53518	0.728	T	0.56854	-0.7910	8	0.21540	T	0.41	.	9.7894	0.40697	0.0:0.9038:0.0:0.0962	.	42	Q9BQA9	CQ062_HUMAN	R	42	.	ENSP00000307765:G42R	G	-	1	0	C17orf62	77998748	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.580000	0.53907	2.113000	0.64589	0.561000	0.74099	GGA		0.542	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443260.1	NM_001033046		4	14	0	0	0	0	4	14				
IMPA2	3613	broad.mit.edu	37	18	12028874	12028874	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:12028874C>T	ENST00000269159.3	+	7	875	c.633C>T	c.(631-633)ctC>ctT	p.L211L	IMPA2_ENST00000588927.1_Silent_p.L22L|RP11-703I16.1_ENST00000587619.1_RNA|IMPA2_ENST00000589238.1_Silent_p.L22L	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	211					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	CATTGGCACTCTGCCACCTGG	0.617																																						uc002kqp.1		NA																	0				skin(2)	2						c.(631-633)CTC>CTT		inositol(myo)-1(or 4)-monophosphatase 2	Lithium(DB01356)						95.0	92.0	93.0					18																	12028874		2203	4300	6503	SO:0001819	synonymous_variant	3613				inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	g.chr18:12028874C>T	AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.633C>T	18.37:g.12028874C>T						IMPA2_uc002kqo.1_Silent_p.L22L|IMPA2_uc002kqq.1_Silent_p.L91L	p.L211L	NM_014214	NP_055029	O14732	IMPA2_HUMAN			7	847	+			211					B0YJ29|Q9UJT3	Silent	SNP	ENST00000269159.3	37	c.633C>T	CCDS11855.1																																																																																				0.617	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254601.1			42	63	0	0	0	0	42	63				
MIB1	57534	broad.mit.edu	37	18	19429231	19429231	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:19429231C>G	ENST00000261537.6	+	17	2732	c.2468C>G	c.(2467-2469)tCa>tGa	p.S823*	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	823					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			ATGGTGTGCTCAGATATGAAG	0.378																																						uc002ktq.2		NA																	0				ovary(4)	4						c.(2467-2469)TCA>TGA		mindbomb homolog 1							206.0	199.0	202.0					18																	19429231		2203	4300	6503	SO:0001587	stop_gained	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19429231C>G	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.2468C>G	18.37:g.19429231C>G	ENSP00000261537:p.Ser823*					MIB1_uc002ktp.2_Nonsense_Mutation_p.S462*	p.S823*	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		17	2468	+			823			RING-type 1.		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Nonsense_Mutation	SNP	ENST00000261537.6	37	c.2468C>G	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	C	41	9.007523	0.99035	.	.	ENSG00000101752	ENST00000261537	.	.	.	5.33	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-10.4422	16.071	0.80936	0.0:0.8664:0.1335:0.0	.	.	.	.	X	823	.	ENSP00000261537:S823X	S	+	2	0	MIB1	17683229	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.079000	0.71291	2.494000	0.84150	0.585000	0.79938	TCA		0.378	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		50	127	0	0	0	0	50	127				
GATA6	2627	broad.mit.edu	37	18	19761413	19761413	+	Splice_Site	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:19761413G>A	ENST00000269216.3	+	4	1579		c.e4-1		RNU6-702P_ENST00000364982.1_RNA|GATA6_ENST00000581694.1_Splice_Site	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6						blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|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 beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			ACTGTTTCTAGCCTTCATCAC	0.418																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	uc002ktt.1		NA																	0				central_nervous_system(3)	3						c.e4-1		GATA binding protein 6							106.0	98.0	100.0					18																	19761413		2203	4300	6503	SO:0001630	splice_region_variant	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19761413G>A	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1303-1G>A	18.37:g.19761413G>A						GATA6_uc002ktu.1_Splice_Site_p.P435_splice	p.P435_splice	NM_005257	NP_005248	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		4	1568	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)							B0YJ17|P78327	Splice_Site	SNP	ENST00000269216.3	37	c.1303_splice	CCDS11872.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138616	0.77775	.	.	ENSG00000141448	ENST00000269216	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GATA6	18015411	1.000000	0.71417	0.999000	0.59377	0.731000	0.41821	9.487000	0.97945	2.941000	0.99782	0.655000	0.94253	.		0.418	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257	Intron	11	44	0	0	0	0	11	44				
LAMA3	3909	broad.mit.edu	37	18	21404467	21404467	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:21404467G>C	ENST00000313654.9	+	21	2750	c.2509G>C	c.(2509-2511)Gac>Cac	p.D837H	LAMA3_ENST00000399516.3_Missense_Mutation_p.D837H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	837	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.D837N(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGGTTTTGCAGACCCATTTTC	0.458																																						uc002kuq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(2509-2511)GAC>CAC		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						128.0	127.0	127.0					18																	21404467		1909	4116	6025	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21404467G>C	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2509G>C	18.37:g.21404467G>C	ENSP00000324532:p.Asp837His					LAMA3_uc002kur.2_Missense_Mutation_p.D837H	p.D837H	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			21	2595	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		837			Domain IV 1 (domain IV B).		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.2509G>C	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599181	0.46318	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.18338	2.23;2.22	5.95	4.13	0.48395	.	.	.	.	.	T	0.14527	0.0351	N	0.19112	0.55	0.30916	N	0.728556	B;B	0.19200	0.021;0.034	B;B	0.16722	0.01;0.016	T	0.06643	-1.0815	9	0.72032	D	0.01	.	16.6665	0.85254	0.0:0.2449:0.7551:0.0	.	837;837	Q6VU67;Q16787	.;LAMA3_HUMAN	H	837;837;835	ENSP00000324532:D837H;ENSP00000382432:D837H	ENSP00000324532:D837H	D	+	1	0	LAMA3	19658465	1.000000	0.71417	0.707000	0.30419	0.968000	0.65278	4.162000	0.58177	0.814000	0.34374	0.655000	0.94253	GAC		0.458	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		31	75	0	0	0	0	31	75				
DYM	54808	broad.mit.edu	37	18	46906126	46906126	+	Nonsense_Mutation	SNP	C	C	A	rs201369063		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:46906126C>A	ENST00000269445.6	-	4	653	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	DYM_ENST00000578396.1_5'Flank|DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	66				E -> K (in Ref. 2; BAC11088). {ECO:0000305}.	bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GGATTGTTTTCAACTGCAAGA	0.303																																						uc002ldi.1		NA																	0					0						c.(196-198)GAA>TAA		dymeclin							103.0	106.0	105.0					18																	46906126		2203	4300	6503	SO:0001587	stop_gained	54808					Golgi apparatus		g.chr18:46906126C>A	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.196G>T	18.37:g.46906126C>A	ENSP00000269445:p.Glu66*					DYM_uc010xdf.1_Intron	p.E66*	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN			4	561	-			66	E -> K (in Ref. 2; BAC11088).				A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Nonsense_Mutation	SNP	ENST00000269445.6	37	c.196G>T	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369392	0.82463	.	.	ENSG00000141627	ENST00000269445	.	.	.	5.28	4.41	0.53225	.	0.202695	0.49916	D	0.000123	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-6.7371	14.1256	0.65217	0.0:0.9271:0.0:0.0729	.	.	.	.	X	66	.	ENSP00000269445:E66X	E	-	1	0	DYM	45160124	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.487000	0.45268	1.366000	0.46076	0.650000	0.86243	GAA		0.303	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		15	42	1	0	2.32e-05	2.42e-05	15	42				
RTTN	25914	broad.mit.edu	37	18	67801735	67801735	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:67801735G>A	ENST00000255674.6	-	23	3214	c.2928C>T	c.(2926-2928)ttC>ttT	p.F976F	RTTN_ENST00000437017.1_Silent_p.F976F|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	976					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CAGGCAAACTGAAGACCGATG	0.323																																						uc002lkp.2		NA																	0				ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(2926-2928)TTC>TTT		rotatin							84.0	76.0	78.0					18																	67801735		1826	4073	5899	SO:0001819	synonymous_variant	25914						binding	g.chr18:67801735G>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.2928C>T	18.37:g.67801735G>A						RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.F64F	p.F976F	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			23	2996	-		Esophageal squamous(42;0.129)	976					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	37	c.2928C>T	CCDS42443.1																																																																																				0.323	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		12	28	0	0	0	0	12	28				
MED16	10025	broad.mit.edu	37	19	873569	873569	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:873569G>C	ENST00000589119.1	-	10	1784	c.1785C>G	c.(1783-1785)gtC>gtG	p.V595V	MED16_ENST00000269814.4_Silent_p.V595V|MED16_ENST00000325464.1_Silent_p.V595V|MED16_ENST00000606828.1_5'UTR|MED16_ENST00000395808.3_Silent_p.V595V|MED16_ENST00000312090.6_Silent_p.V595V			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	595					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTTGATCATGACCTTGTCAA	0.572																																						uc002lqd.1		NA																	0					0						c.(1783-1785)GTC>GTG		mediator complex subunit 16							141.0	106.0	118.0					19																	873569		2202	4298	6500	SO:0001819	synonymous_variant	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:873569G>C	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1785C>G	19.37:g.873569G>C						MED16_uc010drw.1_Silent_p.V420V|MED16_uc002lqe.2_Silent_p.V584V|MED16_uc002lqf.2_Silent_p.V584V|MED16_uc010xfv.1_RNA|MED16_uc010xfw.1_Silent_p.V515V|MED16_uc010xfx.1_Silent_p.V440V|MED16_uc010xfy.1_Silent_p.V172V|MED16_uc010xfz.1_RNA	p.V595V	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1936	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	595					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	ENST00000589119.1	37	c.1785C>G	CCDS12047.1																																																																																				0.572	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		21	33	0	0	0	0	21	33				
STK11	6794	broad.mit.edu	37	19	1220487	1220487	+	Missense_Mutation	SNP	G	G	A	rs121913315		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:1220487G>A	ENST00000326873.7	+	4	1753	c.580G>A	c.(580-582)Gac>Aac	p.D194N		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	194	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> N (in PJS). {ECO:0000269|PubMed:10408777}.|D -> V (in lung cancer; somatic mutation). {ECO:0000269|PubMed:10079245}.|D -> Y (in melanoma; sporadic malignant; somatic mutation). {ECO:0000269|PubMed:10208439}.		activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.D194Y(6)|p.Y156fs*87(4)|p.?(3)|p.D194N(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAAATCTCCGACCTGGGCGT	0.677	D194N(ALEXANDERCELLS_LIVER)|D194N(PLCPRF5_LIVER)	14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												uc002lrl.1	D194N(ALEXANDERCELLS_LIVER)|D194N(PLCPRF5_LIVER)	14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		36	Whole gene deletion(20)|Substitution - Missense(9)|Deletion - Frameshift(4)|Unknown(3)	p.0?(19)|p.D194Y(6)|p.Y156fs*87(4)|p.?(3)|p.D194N(3)|p.D194fs*93(1)|p.D194V(1)	cervix(15)|lung(14)|skin(2)|liver(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266	GRCh37	CM991156	STK11	M	rs121913315	c.(580-582)GAC>AAC		serine/threonine protein kinase 11							36.0	40.0	39.0					19																	1220487		2012	4159	6171	SO:0001583	missense	6794	Peutz-Jeghers_syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1220487G>A	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.580G>A	19.37:g.1220487G>A	ENSP00000324856:p.Asp194Asn	TSP Lung(3;<1E-08)					p.D194N	NM_000455	NP_000446	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1695	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	194	D->A: Loss of kinase activity.	D -> V (in lung cancer; somatic mutation).|D -> Y (in melanoma; sporadic malignant; somatic mutation).|D -> N (in PJS).	Protein kinase.		B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	37	c.580G>A	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353569	0.82243	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.92965	-3.14	5.56	5.56	0.83823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97832	0.9288	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99116	1.0848	10	0.87932	D	0	-60.7725	18.5793	0.91165	0.0:0.0:1.0:0.0	.	194	Q15831	STK11_HUMAN	N	194	ENSP00000324856:D194N	ENSP00000324856:D194N	D	+	1	0	STK11	1171487	1.000000	0.71417	0.992000	0.48379	0.133000	0.20885	9.725000	0.98778	2.640000	0.89533	0.556000	0.70494	GAC		0.677	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		4	6	0	0	0	0	4	6				
STK11	6794	broad.mit.edu	37	19	1221279	1221279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:1221279G>A	ENST00000326873.7	+	6	1975	c.802G>A	c.(802-804)Ggg>Agg	p.G268R		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	268	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGAACATCGGGAAGGGGAG	0.607		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												uc002lrl.1		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		23	Whole gene deletion(20)|Unknown(2)|Deletion - Frameshift(1)	p.0?(19)|p.?(2)|p.Y246fs*3(1)	cervix(14)|lung(5)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266						c.(802-804)GGG>AGG		serine/threonine protein kinase 11							55.0	59.0	58.0					19																	1221279		1968	4126	6094	SO:0001583	missense	6794	Peutz-Jeghers_syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1221279G>A	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.802G>A	19.37:g.1221279G>A	ENSP00000324856:p.Gly268Arg	TSP Lung(3;<1E-08)					p.G268R	NM_000455	NP_000446	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1917	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	268			Protein kinase.		B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	37	c.802G>A	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843132	0.91197	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.82255	-1.59	4.22	4.22	0.49857	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	0.71134	0.3304	N	0.05230	-0.09	0.80722	D	1	P	0.51147	0.942	P	0.45753	0.492	T	0.76044	-0.3103	10	0.40728	T	0.16	-46.97	15.7451	0.77932	0.0:0.0:1.0:0.0	.	268	Q15831	STK11_HUMAN	R	268	ENSP00000324856:G268R	ENSP00000324856:G268R	G	+	1	0	STK11	1172279	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	7.666000	0.83877	2.180000	0.69256	0.561000	0.74099	GGG		0.607	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		5	8	0	0	0	0	5	8				
MBD3	53615	broad.mit.edu	37	19	1585105	1585105	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:1585105C>T	ENST00000434436.3	-	2	348	c.219G>A	c.(217-219)aaG>aaA	p.K73K	AC005943.4_ENST00000592406.1_RNA|MBD3_ENST00000590550.2_Silent_p.K17K|MBD3_ENST00000592012.1_Silent_p.K41K|MBD3_ENST00000585967.1_5'UTR|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000156825.1_Silent_p.K73K	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	73					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTGTTCATCTTGCTCATCA	0.647																																						uc002ltl.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(217-219)AAG>AAA		methyl-CpG binding domain protein 3							88.0	59.0	69.0					19																	1585105		2203	4300	6503	SO:0001819	synonymous_variant	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1585105C>T	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.219G>A	19.37:g.1585105C>T						MBD3_uc002ltj.2_Silent_p.K73K|MBD3_uc002ltk.2_Silent_p.K41K	p.K73K	NM_003926	NP_003917	O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	2	241	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	73					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Silent	SNP	ENST00000434436.3	37	c.219G>A	CCDS12072.1																																																																																				0.647	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		6	25	0	0	0	0	6	25				
MUC16	94025	broad.mit.edu	37	19	9000195	9000195	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:9000195T>C	ENST00000397910.4	-	55	40765	c.40562A>G	c.(40561-40563)aAc>aGc	p.N13521S	MUC16_ENST00000380951.5_Missense_Mutation_p.N162S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13523	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	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						AACACTGGTGTTCTTGAACAC	0.567																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(40561-40563)AAC>AGC		mucin 16							115.0	95.0	102.0					19																	9000195		2022	4188	6210	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9000195T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40562A>G	19.37:g.9000195T>C	ENSP00000381008:p.Asn13521Ser					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.N338S|MUC16_uc010xki.1_RNA	p.N13521S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			55	40766	-			13523	Missing (in Ref. 3; AAK74120).		SEA 10.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40562A>G	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.99|12.99	2.104445|2.104445	0.37145|0.37145	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.28666|.	1.6;1.6|.	2.9|2.9	1.86|1.86	0.25419|0.25419	SEA (3);|.	.|.	.|.	.|.	.|.	T|T	0.47266|0.47266	0.1436|0.1436	M|M	0.62723|0.62723	1.935|1.935	.|.	.|.	.|.	P;P|.	0.41910|.	0.764;0.471|.	B;P|.	0.52554|.	0.242;0.702|.	T|T	0.54275|0.54275	-0.8318|-0.8318	8|4	0.49607|.	T|.	0.09|.	-10.7849|-10.7849	4.1865|4.1865	0.10400|0.10400	0.0:0.1701:0.0:0.8299|0.0:0.1701:0.0:0.8299	.|.	21166;13521|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	S|A	13521;162|361	ENSP00000381008:N13521S;ENSP00000370338:N162S|.	ENSP00000370338:N162S|.	N|T	-|-	2|1	0|0	MUC16|MUC16	8861195|8861195	0.322000|0.322000	0.24634|0.24634	0.048000|0.048000	0.18961|0.18961	0.204000|0.204000	0.24138|0.24138	1.438000|1.438000	0.35002|0.35002	1.329000|1.329000	0.45376|0.45376	0.254000|0.254000	0.18369|0.18369	AAC|ACA		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		30	39	0	0	0	0	30	39				
MUC16	94025	broad.mit.edu	37	19	9011341	9011341	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:9011341C>T	ENST00000397910.4	-	36	39095	c.38892G>A	c.(38890-38892)agG>agA	p.R12964R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12966	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						AGAGACTGTTCCTGTCCAGGG	0.547																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(38890-38892)AGG>AGA		mucin 16							217.0	190.0	199.0					19																	9011341		1995	4178	6173	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9011341C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38892G>A	19.37:g.9011341C>T						MUC16_uc010xki.1_Intron	p.R12964R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			36	39096	-			12966			SEA 6.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.38892G>A	CCDS54212.1																																																																																				0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		49	150	0	0	0	0	49	150				
MUC16	94025	broad.mit.edu	37	19	9047213	9047213	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:9047213G>A	ENST00000397910.4	-	5	34621	c.34418C>T	c.(34417-34419)aCa>aTa	p.T11473I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11475	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						TGGGAAAGTTGTAGTGCTGTC	0.507																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(34417-34419)ACA>ATA		mucin 16							177.0	172.0	174.0					19																	9047213		2035	4193	6228	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047213G>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.34418C>T	19.37:g.9047213G>A	ENSP00000381008:p.Thr11473Ile						p.T11473I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	34622	-			11475			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34418C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.222	0.409037	0.11812	.	.	ENSG00000181143	ENST00000397910	T	0.02067	4.47	2.83	1.78	0.24846	.	.	.	.	.	T	0.03434	0.0099	L	0.38175	1.15	.	.	.	P	0.50528	0.936	P	0.50270	0.636	T	0.36504	-0.9745	8	0.87932	D	0	.	5.6555	0.17640	0.1552:0.0:0.8448:0.0	.	11473	B5ME49	.	I	11473	ENSP00000381008:T11473I	ENSP00000381008:T11473I	T	-	2	0	MUC16	8908213	0.001000	0.12720	0.001000	0.08648	0.093000	0.18481	0.722000	0.25925	0.739000	0.32628	0.306000	0.20318	ACA		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		30	57	0	0	0	0	30	57				
SPC24	147841	broad.mit.edu	37	19	11266370	11266370	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:11266370C>G	ENST00000592540.1	-	1	114	c.83G>C	c.(82-84)cGa>cCa	p.R28P		NM_182513.2	NP_872319.1	Q8NBT2	SPC24_HUMAN	SPC24, NDC80 kinetochore complex component	28	Interaction with the N-terminus of SPBC25.|Interaction with the NDC80-CDCA1 subcomplex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleolus (GO:0005730)|nucleus (GO:0005634)				autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	5						CAGCAGCCGTCGCTGCTGCGC	0.701																																						uc002mql.2		NA																	0					0						c.(82-84)CGA>CCA		spindle pole body component 24 homolog							5.0	6.0	6.0					19																	11266370		1895	4006	5901	SO:0001583	missense	147841				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr19:11266370C>G	AK075287	CCDS45974.1	19p13.2	2013-06-05	2013-06-05	2007-03-02		ENSG00000161888			26913	protein-coding gene	gene with protein product		609394	"""spindle pole body component 24 homolog (S. cerevisiae)"", ""SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	SPBC24			Standard	NM_182513		Approved	FLJ90806	uc002mql.2	Q8NBT2		ENST00000592540.1:c.83G>C	19.37:g.11266370C>G	ENSP00000465075:p.Arg28Pro					SPC24_uc010xlp.1_Missense_Mutation_p.R28P	p.R28P	NM_182513	NP_872319	Q8NBT2	SPC24_HUMAN			1	115	-			28			Interaction with the NDC80-CDCA1 subcomplex.|Interaction with the N-terminus of SPBC25.		B4DZZ7|C9JGC4	Missense_Mutation	SNP	ENST00000592540.1	37	c.83G>C	CCDS45974.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275513	0.40294	.	.	ENSG00000161888	ENST00000429831;ENST00000423327	.	.	.	4.99	3.95	0.45737	.	0.132006	0.49305	D	0.000151	T	0.46521	0.1397	N	0.24115	0.695	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.978;0.993	T	0.26916	-1.0089	9	0.72032	D	0.01	-31.7331	8.9828	0.35974	0.0:0.8969:0.0:0.1031	.	28;28	B4DZZ7;Q8NBT2	.;SPC24_HUMAN	P	28	.	ENSP00000397131:R28P	R	-	2	0	SPC24	11127370	0.658000	0.27402	0.150000	0.22450	0.005000	0.04900	3.188000	0.50958	1.102000	0.41551	0.655000	0.94253	CGA		0.701	SPC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453059.1	NM_182513		3	10	0	0	0	0	3	10				
ZNF700	90592	broad.mit.edu	37	19	12060474	12060474	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:12060474C>T	ENST00000254321.5	+	4	1778	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F	ZNF700_ENST00000482090.1_Silent_p.F527F|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	545					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GTAAAGCCTTCAGATGTTGCA	0.423																																						uc002msu.2		NA																	0					0						c.(1633-1635)TTC>TTT		zinc finger protein 700							99.0	94.0	96.0					19																	12060474		2203	4300	6503	SO:0001819	synonymous_variant	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060474C>T	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1635C>T	19.37:g.12060474C>T						ZNF700_uc010xme.1_Silent_p.F563F|ZNF763_uc010xmf.1_Intron	p.F545F	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN			4	1761	+			545			C2H2-type 12.		B9EGU4	Silent	SNP	ENST00000254321.5	37	c.1635C>T	CCDS32915.1																																																																																				0.423	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		17	61	0	0	0	0	17	61				
NACC1	112939	broad.mit.edu	37	19	13247198	13247198	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:13247198G>T	ENST00000292431.4	+	3	1225	c.1099G>T	c.(1099-1101)Gag>Tag	p.E367*		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	367					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CGACCCCTCTGAGAAGCTGGA	0.652																																						uc002mwm.2		NA																	0					0						c.(1099-1101)GAG>TAG		transcriptional repressor NAC1							49.0	50.0	49.0					19																	13247198		2203	4300	6503	SO:0001587	stop_gained	112939				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		g.chr19:13247198G>T	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.1099G>T	19.37:g.13247198G>T	ENSP00000292431:p.Glu367*						p.E367*	NM_052876	NP_443108	Q96RE7	NACC1_HUMAN			3	1267	+			367						Nonsense_Mutation	SNP	ENST00000292431.4	37	c.1099G>T	CCDS12294.1	.	.	.	.	.	.	.	.	.	.	G	37	6.635404	0.97722	.	.	ENSG00000160877	ENST00000292431	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.0403	0.71785	0.0:0.0:1.0:0.0	.	.	.	.	X	367	.	ENSP00000292431:E367X	E	+	1	0	NACC1	13108198	1.000000	0.71417	0.939000	0.37840	0.866000	0.49608	9.730000	0.98797	2.152000	0.67230	0.393000	0.25936	GAG		0.652	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		14	51	1	0	4.15e-12	4.47e-12	14	51				
NACC1	112939	broad.mit.edu	37	19	13247207	13247207	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:13247207G>C	ENST00000292431.4	+	3	1234	c.1108G>C	c.(1108-1110)Gag>Cag	p.E370Q		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	370					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGAGAAGCTGGAGCTGGTGAC	0.662																																						uc002mwm.2		NA																	0					0						c.(1108-1110)GAG>CAG		transcriptional repressor NAC1							48.0	48.0	48.0					19																	13247207		2203	4300	6503	SO:0001583	missense	112939				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		g.chr19:13247207G>C	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.1108G>C	19.37:g.13247207G>C	ENSP00000292431:p.Glu370Gln						p.E370Q	NM_052876	NP_443108	Q96RE7	NACC1_HUMAN			3	1276	+			370						Missense_Mutation	SNP	ENST00000292431.4	37	c.1108G>C	CCDS12294.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426311	0.62733	.	.	ENSG00000160877	ENST00000292431	T	0.61158	0.13	4.64	3.6	0.41247	.	0.059170	0.64402	D	0.000003	T	0.64516	0.2605	L	0.36672	1.1	0.38528	D	0.948895	D	0.89917	1.0	D	0.91635	0.999	T	0.68202	-0.5471	10	0.87932	D	0	.	10.1881	0.43011	0.0994:0.0:0.9006:0.0	.	370	Q96RE7	NACC1_HUMAN	Q	370	ENSP00000292431:E370Q	ENSP00000292431:E370Q	E	+	1	0	NACC1	13108207	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.730000	0.98797	0.963000	0.38082	0.393000	0.25936	GAG		0.662	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		12	46	0	0	0	0	12	46				
C19orf57	79173	broad.mit.edu	37	19	14000824	14000824	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:14000824G>C	ENST00000586783.1	-	5	844	c.845C>G	c.(844-846)tCa>tGa	p.S282*	C19orf57_ENST00000346736.2_Nonsense_Mutation_p.S282*|C19orf57_ENST00000454313.1_Nonsense_Mutation_p.S282*|C19orf57_ENST00000591586.1_Intron			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	282					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGTAGGAGCTGATGCTGGGGT	0.711																																						uc002mxl.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(844-846)TCA>TGA		hypothetical protein LOC79173							37.0	37.0	37.0					19																	14000824		2203	4299	6502	SO:0001587	stop_gained	79173				multicellular organismal development		protein binding	g.chr19:14000824G>C	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.845C>G	19.37:g.14000824G>C	ENSP00000465822:p.Ser282*					C19orf57_uc002mxk.1_Nonsense_Mutation_p.S164*|C19orf57_uc002mxm.1_Intron	p.S282*	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		6	904	-			282					Q13411|Q8N825|Q96D63|Q9BU49	Nonsense_Mutation	SNP	ENST00000586783.1	37	c.845C>G		.	.	.	.	.	.	.	.	.	.	G	14.97	2.694321	0.48202	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	.	.	.	2.21	1.1	0.20463	.	2.773190	0.02167	N	0.059353	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	4.2122	0.10517	0.2351:0.0:0.7649:0.0	.	.	.	.	X	282	.	ENSP00000254336:S282X	S	-	2	0	C19orf57	13861824	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.439000	0.21575	0.210000	0.20664	0.313000	0.20887	TCA		0.711	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		6	42	0	0	0	0	6	42				
CC2D1A	54862	broad.mit.edu	37	19	14020719	14020719	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:14020719C>T	ENST00000318003.7	+	2	385	c.144C>T	c.(142-144)ttC>ttT	p.F48F	CC2D1A_ENST00000589606.1_Silent_p.F48F	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	48					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGGCTGAGTTCTTGGCTTTGG	0.567																																						uc002mxo.2		NA																	0					0						c.(142-144)TTC>TTT		coiled-coil and C2 domain containing 1A							82.0	84.0	83.0					19																	14020719		1949	4146	6095	SO:0001819	synonymous_variant	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14020719C>T	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.144C>T	19.37:g.14020719C>T						CC2D1A_uc002mxn.2_Missense_Mutation_p.S8F|CC2D1A_uc002mxp.2_Silent_p.F48F	p.F48F	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		2	443	+			48					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Silent	SNP	ENST00000318003.7	37	c.144C>T	CCDS42512.1																																																																																				0.567	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		20	67	0	0	0	0	20	67				
SYDE1	85360	broad.mit.edu	37	19	15222217	15222217	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:15222217G>A	ENST00000342784.2	+	5	1415	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	SYDE1_ENST00000600440.1_Missense_Mutation_p.E395K|SYDE1_ENST00000600252.1_Missense_Mutation_p.E119K	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	462	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CTGCCTATCTGAGGACCTGTA	0.592																																						uc002nah.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1384-1386)GAG>AAG		synapse defective 1, Rho GTPase, homolog 1							166.0	134.0	145.0					19																	15222217		2203	4300	6503	SO:0001583	missense	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15222217G>A	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1384G>A	19.37:g.15222217G>A	ENSP00000341489:p.Glu462Lys					SYDE1_uc002nai.1_Missense_Mutation_p.E395K|SYDE1_uc002naj.1_Missense_Mutation_p.E119K	p.E462K	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN			5	1415	+			462			Rho-GAP.		Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	ENST00000342784.2	37	c.1384G>A	CCDS12324.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175407	0.94807	.	.	ENSG00000105137	ENST00000342784	T	0.18810	2.19	5.3	5.3	0.74995	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.39963	0.1098	L	0.48877	1.53	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.03524	-1.1028	10	0.35671	T	0.21	.	16.4457	0.83928	0.0:0.0:1.0:0.0	.	395;395;462	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	K	462	ENSP00000341489:E462K	ENSP00000341489:E462K	E	+	1	0	SYDE1	15083217	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	9.297000	0.96120	2.488000	0.83962	0.561000	0.74099	GAG		0.592	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		4	56	0	0	0	0	4	56				
SSBP4	170463	broad.mit.edu	37	19	18543509	18543509	+	Splice_Site	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:18543509G>C	ENST00000270061.7	+	12	1044		c.e12-1		SSBP4_ENST00000599699.2_5'Flank|SSBP4_ENST00000348495.6_Splice_Site	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4							nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						CTTGTCCCCAGATCCCCTACT	0.647																																						uc002niy.2		NA																	0					0						c.e12-1		single stranded DNA binding protein 4 isoform a							38.0	38.0	38.0					19																	18543509		2203	4298	6501	SO:0001630	splice_region_variant	170463					nucleus	single-stranded DNA binding	g.chr19:18543509G>C		CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.751-1G>C	19.37:g.18543509G>C						SSBP4_uc002niz.2_Splice_Site_p.I229_splice	p.I251_splice	NM_032627	NP_116016	Q9BWG4	SSBP4_HUMAN			12	989	+								Q9BWW5	Splice_Site	SNP	ENST00000270061.7	37	c.751_splice	CCDS12378.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193863	0.58017	.	.	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	3.96	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9006	0.52682	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SSBP4	18404509	1.000000	0.71417	0.997000	0.53966	0.642000	0.38348	5.821000	0.69257	1.950000	0.56595	0.511000	0.50034	.		0.647	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	NM_032627	Intron	11	22	0	0	0	0	11	22				
NDUFA13	51079	broad.mit.edu	37	19	19625897	19625897	+	5'Flank	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:19625897C>T	ENST00000507754.4	+	0	0				CTC-260F20.3_ENST00000555938.1_5'Flank|TSSK6_ENST00000360913.3_Missense_Mutation_p.D114N|NDUFA13_ENST00000512771.3_5'Flank|TSSK6_ENST00000585580.3_Missense_Mutation_p.D114N|NDUFA13_ENST00000503283.1_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|NDUFA13_ENST00000252576.5_5'Flank|NDUFA13_ENST00000428459.2_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.D114N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GCAAAGAGGTCGCGCGCCTGA	0.657																																						uc002nmr.2		NA																	1	Substitution - Missense(1)		lung(1)	stomach(1)	1						c.(340-342)GAC>AAC		testis-specific serine kinase 6							35.0	38.0	37.0					19																	19625897		2203	4298	6501	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19625897C>T	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625897C>T	Exception_encountered					TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	p.D114N	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN			1	573	-			114			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.340G>A	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	9.429	1.085056	0.20390	.	.	ENSG00000178093	ENST00000360913	T	0.64803	-0.12	4.85	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.320112	0.21480	U	0.073841	T	0.43322	0.1242	N	0.12471	0.22	0.27073	N	0.963262	B	0.06786	0.001	B	0.04013	0.001	T	0.12293	-1.0553	10	0.15499	T	0.54	.	15.4918	0.75611	0.0:1.0:0.0:0.0	.	114	Q9BXA6	TSSK6_HUMAN	N	114	ENSP00000354168:D114N	ENSP00000354168:D114N	D	-	1	0	TSSK6	19486897	0.834000	0.29399	1.000000	0.80357	0.016000	0.09150	3.384000	0.52478	2.252000	0.74401	0.306000	0.20318	GAC		0.657	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		22	53	0	0	0	0	22	53				
NUDT19	390916	broad.mit.edu	37	19	33183199	33183199	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:33183199G>A	ENST00000397061.3	+	1	333	c.333G>A	c.(331-333)aaG>aaA	p.K111K	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	111	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					ATGACCACAAGACCGACAACA	0.716																																						uc010edf.2		NA																	0					0						c.(331-333)AAG>AAA		nudix (nucleoside diphosphate linked moiety							21.0	26.0	25.0					19																	33183199		2133	4241	6374	SO:0001819	synonymous_variant	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33183199G>A		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.333G>A	19.37:g.33183199G>A							p.K111K	NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN			1	333	+	Esophageal squamous(110;0.137)		111			Nudix hydrolase.			Silent	SNP	ENST00000397061.3	37	c.333G>A	CCDS42543.1																																																																																				0.716	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		13	27	0	0	0	0	13	27				
GRAMD1A	57655	broad.mit.edu	37	19	35502416	35502416	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:35502416C>T	ENST00000317991.5	+	7	756	c.564C>T	c.(562-564)ttC>ttT	p.F188F	GRAMD1A_ENST00000599564.1_Silent_p.F275F|GRAMD1A_ENST00000411896.2_Silent_p.F181F|GRAMD1A_ENST00000504615.2_5'UTR	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	188						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACCGCTGCTTCCTCCTCATCT	0.617																																						uc010xse.1		NA																	0					0						c.(562-564)TTC>TTT		GRAM domain containing 1A isoform 1							83.0	91.0	88.0					19																	35502416		1970	4132	6102	SO:0001819	synonymous_variant	57655					integral to membrane		g.chr19:35502416C>T	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.564C>T	19.37:g.35502416C>T						GRAMD1A_uc002nxi.1_Silent_p.F275F|GRAMD1A_uc002nxk.2_Silent_p.F181F|GRAMD1A_uc002nxl.2_5'UTR|GRAMD1A_uc010xsf.1_Silent_p.F193F|GRAMD1A_uc002nxm.1_5'Flank	p.F188F	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		7	701	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		188					A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	c.564C>T	CCDS42546.1																																																																																				0.617	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		11	129	0	0	0	0	11	129				
USF2	7392	broad.mit.edu	37	19	35761375	35761375	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:35761375A>G	ENST00000222305.3	+	5	492	c.455A>G	c.(454-456)aAt>aGt	p.N152S	USF2_ENST00000379134.3_Intron|USF2_ENST00000595068.1_Missense_Mutation_p.N152S|USF2_ENST00000594064.1_Missense_Mutation_p.N150S|USF2_ENST00000343550.5_Missense_Mutation_p.N85S	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	152					lactation (GO:0007595)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCTTCAGCAATGGTGGCAGT	0.592																																					NSCLC(103;173 2832 8890)	uc002nyq.1		NA																	0					0						c.(454-456)AAT>AGT		upstream stimulatory factor 2 isoform 1							74.0	74.0	74.0					19																	35761375		2203	4300	6503	SO:0001583	missense	7392				lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:35761375A>G	AY007087	CCDS12452.1, CCDS12453.1	19q13	2013-05-21				ENSG00000105698		"""Basic helix-loop-helix proteins"""	12594	protein-coding gene	gene with protein product		600390				8954795	Standard	NM_003367		Approved	FIP, bHLHb12	uc002nyq.1	Q15853		ENST00000222305.3:c.455A>G	19.37:g.35761375A>G	ENSP00000222305:p.Asn152Ser					USF2_uc010xss.1_Missense_Mutation_p.N152S|USF2_uc002nyr.1_Missense_Mutation_p.N85S|USF2_uc002nys.1_5'UTR|USF2_uc002nyt.1_Intron|USF2_uc002nyu.1_5'UTR|USF2_uc002nyv.1_5'UTR	p.N152S	NM_003367	NP_003358	Q15853	USF2_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		5	564	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		152					O00671|O00709|Q05750|Q07952|Q15851|Q15852|Q6FI33|Q6YI47	Missense_Mutation	SNP	ENST00000222305.3	37	c.455A>G	CCDS12452.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.686162	0.29962	.	.	ENSG00000105698	ENST00000222305;ENST00000343550	D;D	0.92752	-3.1;-3.09	3.63	3.63	0.41609	.	0.000000	0.85682	D	0.000000	D	0.84772	0.5546	L	0.41492	1.28	0.80722	D	1	B;B;B	0.33212	0.402;0.097;0.129	B;B;B	0.26864	0.074;0.061;0.041	T	0.80605	-0.1308	10	0.15066	T	0.55	.	10.5254	0.44945	1.0:0.0:0.0:0.0	.	150;85;152	B4DLJ1;Q15853-3;Q15853	.;.;USF2_HUMAN	S	152;85	ENSP00000222305:N152S;ENSP00000340633:N85S	ENSP00000222305:N152S	N	+	2	0	USF2	40453215	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	6.540000	0.73861	1.648000	0.50643	0.454000	0.30748	AAT		0.592	USF2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466056.1	NM_003367		23	53	0	0	0	0	23	53				
TMEM147	10430	broad.mit.edu	37	19	36037925	36037925	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:36037925C>T	ENST00000222284.5	+	5	568	c.423C>T	c.(421-423)atC>atT	p.I141I	AD000090.2_ENST00000588286.1_RNA|TMEM147_ENST00000392204.2_Silent_p.I92I|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000444728.1_RNA|TMEM147_ENST00000392205.1_Silent_p.I141I|AD000090.2_ENST00000589137.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	141						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACTCCAACATCAGTCTGGTAG	0.567																																						uc002oaj.1		NA																	0					0						c.(421-423)ATC>ATT		transmembrane protein 147							141.0	126.0	131.0					19																	36037925		2203	4300	6503	SO:0001819	synonymous_variant	10430					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:36037925C>T	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.423C>T	19.37:g.36037925C>T						uc010eec.1_5'Flank|uc002oag.2_5'Flank|TMEM147_uc002oai.1_Silent_p.I92I|TMEM147_uc002oak.1_Silent_p.I96I	p.I141I	NM_032635	NP_116024	Q9BVK8	TM147_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		5	520	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		141			Helical; (Potential).		A8MWW0|O75790	Silent	SNP	ENST00000222284.5	37	c.423C>T	CCDS12466.1																																																																																				0.567	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635		19	93	0	0	0	0	19	93				
ZNF383	163087	broad.mit.edu	37	19	37726940	37726940	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:37726940A>G	ENST00000589413.1	+	7	779	c.196A>G	c.(196-198)Atg>Gtg	p.M66V	ZNF383_ENST00000590503.1_Missense_Mutation_p.M66V|ZNF383_ENST00000352998.3_Missense_Mutation_p.M66V			Q8NA42	ZN383_HUMAN	zinc finger protein 383	66	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGCCCTGGATGGTTGGCAG	0.498																																						uc002oft.1		NA																	0		p.M66I(1)		ovary(1)|skin(1)	2						c.(196-198)ATG>GTG		zinc finger protein 383							120.0	114.0	116.0					19																	37726940		2203	4300	6503	SO:0001583	missense	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37726940A>G	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.196A>G	19.37:g.37726940A>G	ENSP00000464871:p.Met66Val					ZNF383_uc002ofs.1_Missense_Mutation_p.M1V|ZNF383_uc002ofu.1_Missense_Mutation_p.M66V	p.M66V	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		7	776	+			66			KRAB.		Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	c.196A>G	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.811835	0.50527	.	.	ENSG00000188283	ENST00000352998	T	0.06068	3.35	3.39	3.39	0.38822	Krueppel-associated box (2);	0.000000	0.38381	N	0.001716	T	0.03959	0.0111	L	0.28014	0.82	0.24380	N	0.994793	P	0.39116	0.66	B	0.29785	0.107	T	0.43829	-0.9367	9	.	.	.	.	10.4292	0.44398	1.0:0.0:0.0:0.0	.	66	Q8NA42	ZN383_HUMAN	V	66	ENSP00000340132:M66V	.	M	+	1	0	ZNF383	42418780	0.403000	0.25319	1.000000	0.80357	0.991000	0.79684	0.155000	0.16362	1.769000	0.52152	0.460000	0.39030	ATG		0.498	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		26	71	0	0	0	0	26	71				
MAP4K1	11184	broad.mit.edu	37	19	39101700	39101700	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:39101700C>G	ENST00000591517.1	-	11	829	c.801G>C	c.(799-801)aaG>aaC	p.K267N	MAP4K1_ENST00000589130.1_Missense_Mutation_p.K263N|MAP4K1_ENST00000586296.1_Missense_Mutation_p.K267N|MAP4K1_ENST00000396857.2_Missense_Mutation_p.K267N|MAP4K1_ENST00000423454.2_Intron|MAP4K1_ENST00000589002.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CACTGAGCATCTTGGTGGCGC	0.532																																						uc002oix.1		NA																	0				skin(4)|lung(3)|ovary(1)	8						c.(799-801)AAG>AAC		mitogen-activated protein kinase kinase kinase							113.0	126.0	122.0					19																	39101700		1988	4169	6157	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39101700C>G	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.801G>C	19.37:g.39101700C>G	ENSP00000465039:p.Lys267Asn					MAP4K1_uc002oiy.1_Missense_Mutation_p.K267N|MAP4K1_uc010xug.1_Intron	p.K267N	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		11	909	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		267			Protein kinase.			Missense_Mutation	SNP	ENST00000591517.1	37	c.801G>C	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	.	18.07	3.541606	0.65085	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.24908	1.83	4.27	4.27	0.50696	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	0.40670	0.1126	L	0.47016	1.485	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.976;0.998	T	0.23476	-1.0187	10	0.87932	D	0	.	9.4296	0.38601	0.0:0.9002:0.0:0.0998	.	267;267	Q92918-2;Q92918	.;M4K1_HUMAN	N	267	ENSP00000380066:K267N	ENSP00000221409:K267N	K	-	3	2	MAP4K1	43793540	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.556000	0.53734	2.211000	0.71520	0.555000	0.69702	AAG		0.532	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		6	16	0	0	0	0	6	16				
MAP4K1	11184	broad.mit.edu	37	19	39103253	39103253	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:39103253G>A	ENST00000591517.1	-	9	691	c.663C>T	c.(661-663)ctC>ctT	p.L221L	MAP4K1_ENST00000589130.1_Silent_p.L217L|MAP4K1_ENST00000586296.1_Silent_p.L221L|MAP4K1_ENST00000396857.2_Silent_p.L221L|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589002.1_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGCCTACCTGAGAGGGTGCA	0.607																																						uc002oix.1		NA																	0				skin(4)|lung(3)|ovary(1)	8						c.(661-663)CTC>CTT		mitogen-activated protein kinase kinase kinase							37.0	42.0	40.0					19																	39103253		2092	4234	6326	SO:0001819	synonymous_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39103253G>A	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.663C>T	19.37:g.39103253G>A						MAP4K1_uc002oiy.1_Silent_p.L221L|MAP4K1_uc010xug.1_5'UTR	p.L221L	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		9	771	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		221			Protein kinase.			Silent	SNP	ENST00000591517.1	37	c.663C>T	CCDS59385.1																																																																																				0.607	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		13	23	0	0	0	0	13	23				
ZNF546	339327	broad.mit.edu	37	19	40519724	40519724	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:40519724G>C	ENST00000347077.4	+	7	763	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	ZNF546_ENST00000600094.1_Missense_Mutation_p.E157Q|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	183					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)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACATGAATTTGAGAGACAAGA	0.358																																						uc002oms.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(547-549)GAG>CAG		zinc finger protein 546							85.0	82.0	83.0					19																	40519724		2203	4300	6503	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40519724G>C	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.547G>C	19.37:g.40519724G>C	ENSP00000339823:p.Glu183Gln					ZNF546_uc002omt.2_Missense_Mutation_p.E157Q	p.E183Q	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN			7	803	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		183					A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.547G>C	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	12.42	1.933301	0.34096	.	.	ENSG00000187187	ENST00000347077	T	0.07688	3.17	2.48	1.41	0.22369	.	.	.	.	.	T	0.09335	0.0230	N	0.24115	0.695	0.21579	N	0.99964	D;D	0.62365	0.991;0.991	P;P	0.55011	0.766;0.766	T	0.33828	-0.9853	9	0.25106	T	0.35	.	6.6358	0.22881	0.1644:0.0:0.8356:0.0	.	157;183	B3KVL3;Q86UE3	.;ZN546_HUMAN	Q	183	ENSP00000339823:E183Q	ENSP00000339823:E183Q	E	+	1	0	ZNF546	45211564	0.110000	0.22057	0.581000	0.28614	0.963000	0.63663	0.712000	0.25779	0.561000	0.29186	0.591000	0.81541	GAG		0.358	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		22	32	0	0	0	0	22	32				
LTBP4	8425	broad.mit.edu	37	19	41125251	41125251	+	Splice_Site	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:41125251G>A	ENST00000602240.1	+	25	3159		c.e25-1		LTBP4_ENST00000308370.7_Splice_Site|LTBP4_ENST00000396819.3_Splice_Site|LTBP4_ENST00000545697.1_Splice_Site|LTBP4_ENST00000243562.9_Splice_Site|LTBP4_ENST00000204005.9_Splice_Site			Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4						extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTGCTTACAGATGTGAACGA	0.468																																						uc002ooh.1		NA																	0				central_nervous_system(1)	1						c.e26-1		latent transforming growth factor beta binding							135.0	135.0	135.0					19																	41125251		1979	4146	6125	SO:0001630	splice_region_variant	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41125251G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000602240.1:c.3160-1G>A	19.37:g.41125251G>A						LTBP4_uc002oog.1_Splice_Site_p.D1054_splice|LTBP4_uc002ooi.1_Splice_Site_p.D1024_splice|LTBP4_uc002ooj.1_Splice_Site|LTBP4_uc002ook.1_Splice_Site_p.D225_splice|LTBP4_uc002ool.1_Splice_Site_p.D103_splice|LTBP4_uc002oom.1_Splice_Site|LTBP4_uc010xvp.1_Splice_Site	p.D1091_splice	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	3272	+								O00508|O75412|O75413	Splice_Site	SNP	ENST00000602240.1	37	c.3272_splice		.	.	.	.	.	.	.	.	.	.	G	15.16	2.751978	0.49362	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562	.	.	.	3.86	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0726	0.72049	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LTBP4	45817091	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	9.483000	0.97937	2.162000	0.67917	0.313000	0.20887	.		0.468	LTBP4-002	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000462815.2	NM_003573	Intron	38	104	0	0	0	0	38	104				
SNRPA	6626	broad.mit.edu	37	19	41257373	41257373	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:41257373G>C	ENST00000243563.3	+	1	610	c.60G>C	c.(58-60)aaG>aaC	p.K20N	C19orf54_ENST00000598485.2_5'Flank|C19orf54_ENST00000339153.3_5'Flank|C19orf54_ENST00000378313.2_5'Flank|C19orf54_ENST00000598729.1_5'Flank|SNRPA_ENST00000599570.1_3'UTR|C19orf54_ENST00000470681.1_5'Flank	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	20	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCAATGAGAAGATCAAGAAGG	0.522																																						uc002ooz.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(58-60)AAG>AAC		small nuclear ribonucleoprotein polypeptide A							138.0	132.0	134.0					19																	41257373		2203	4300	6503	SO:0001583	missense	6626					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:41257373G>C	X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"""RNA binding motif (RRM) containing"""	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.60G>C	19.37:g.41257373G>C	ENSP00000243563:p.Lys20Asn					C19orf54_uc002oou.1_5'Flank|C19orf54_uc002oow.1_5'Flank|C19orf54_uc002oox.1_5'Flank|C19orf54_uc002ooy.1_5'Flank|C19orf54_uc010xvs.1_5'Flank	p.K20N	NM_004596	NP_004587	P09012	SNRPA_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	595	+			20			RRM 1.			Missense_Mutation	SNP	ENST00000243563.3	37	c.60G>C	CCDS12565.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425066	0.83667	.	.	ENSG00000077312	ENST00000243563	T	0.05319	3.46	5.97	5.97	0.96955	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.21674	0.0522	M	0.73319	2.225	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.00087	-1.2092	10	0.87932	D	0	-47.5271	9.2651	0.37636	0.1529:0.0:0.8471:0.0	.	20	P09012	SNRPA_HUMAN	N	20	ENSP00000243563:K20N	ENSP00000243563:K20N	K	+	3	2	SNRPA	45949213	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.728000	0.47319	2.837000	0.97791	0.655000	0.94253	AAG		0.522	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596		47	91	0	0	0	0	47	91				
CYP2F1	1572	broad.mit.edu	37	19	41630772	41630772	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:41630772C>T	ENST00000331105.2	+	8	1185	c.1113C>T	c.(1111-1113)gtC>gtT	p.V371V		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	371					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CGCACCGCGTCACTAGGGACA	0.617																																						uc002opu.1		NA																	0					0						c.(1111-1113)GTC>GTT		cytochrome P450, family 2, subfamily F,							37.0	30.0	33.0					19																	41630772		2203	4300	6503	SO:0001819	synonymous_variant	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41630772C>T	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1113C>T	19.37:g.41630772C>T						CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_3'UTR|CYP2F1_uc002opv.1_RNA	p.V371V	NM_000774	NP_000765	P24903	CP2F1_HUMAN			8	1169	+			371					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	c.1113C>T	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	c	2.852	-0.238163	0.05944	.	.	ENSG00000197446	ENST00000439903	.	.	.	3.13	0.775	0.18527	.	.	.	.	.	T	0.21387	0.0515	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.21518	-1.0243	4	.	.	.	.	1.9637	0.03391	0.2024:0.4758:0.198:0.1238	.	.	.	.	Y	5	.	.	H	+	1	0	CYP2F1	46322612	0.000000	0.05858	0.973000	0.42090	0.369000	0.29798	-0.291000	0.08343	0.526000	0.28541	0.089000	0.15464	CAC		0.617	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			5	24	0	0	0	0	5	24				
SMG9	56006	broad.mit.edu	37	19	44251656	44251656	+	Missense_Mutation	SNP	G	G	T	rs534221014		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:44251656G>T	ENST00000270066.6	-	5	868	c.526C>A	c.(526-528)Cgc>Agc	p.R176S	SMG9_ENST00000601170.1_Missense_Mutation_p.R176S	NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	176					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|intracellular (GO:0005622)	identical protein binding (GO:0042802)			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						TGCTTCATGCGCTCTGGGGGC	0.572																																						uc002oxj.2		NA																	0					0						c.(526-528)CGC>AGC		SMG9 protein							151.0	105.0	121.0					19																	44251656		2203	4300	6503	SO:0001583	missense	56006				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding	g.chr19:44251656G>T	BC008869	CCDS33043.2	19q13.31	2013-07-02	2013-07-02	2011-06-21	ENSG00000105771	ENSG00000105771			25763	protein-coding gene	gene with protein product		613176	"""chromosome 19 open reading frame 61"", ""smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C19orf61		11230166, 19417104	Standard	NM_019108		Approved	FLJ12886	uc002oxj.2	Q9H0W8	OTTHUMG00000150337	ENST00000270066.6:c.526C>A	19.37:g.44251656G>T	ENSP00000270066:p.Arg176Ser					C19orf61_uc002oxk.2_Missense_Mutation_p.R176S|C19orf61_uc010eiy.1_Missense_Mutation_p.R176S	p.R176S	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN			5	869	-		Prostate(69;0.0352)	176					O60429|Q9H9A9	Missense_Mutation	SNP	ENST00000270066.6	37	c.526C>A	CCDS33043.2	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530041	0.45073	.	.	ENSG00000105771	ENST00000270066	.	.	.	5.3	4.27	0.50696	.	0.085679	0.48767	D	0.000170	T	0.32224	0.0822	N	0.14661	0.345	0.38960	D	0.958531	B;B	0.32396	0.369;0.097	B;B	0.35182	0.197;0.02	T	0.15263	-1.0443	9	0.24483	T	0.36	-13.692	6.5729	0.22549	0.091:0.0:0.7302:0.1788	.	176;176	Q9H0W8-2;Q9H0W8	.;SMG9_HUMAN	S	176	.	ENSP00000270066:R176S	R	-	1	0	SMG9	48943496	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	5.936000	0.70153	1.251000	0.43983	0.655000	0.94253	CGC		0.572	SMG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317668.1	NM_019108		4	60	1	0	0.00909568	0.00929024	4	60				
BLOC1S3	388552	broad.mit.edu	37	19	45683082	45683082	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:45683082C>G	ENST00000433642.2	+	2	624	c.528C>G	c.(526-528)atC>atG	p.I176M	TRAPPC6A_ENST00000592647.1_5'Flank|BLOC1S3_ENST00000587722.1_Missense_Mutation_p.I176M|TRAPPC6A_ENST00000585934.1_5'Flank|AC005779.2_ENST00000593083.1_Missense_Mutation_p.I1M|TRAPPC6A_ENST00000588062.1_5'Flank|TRAPPC6A_ENST00000006275.4_5'Flank	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3	176					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|eye development (GO:0001654)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of natural killer cell activation (GO:0032816)|post-Golgi vesicle-mediated transport (GO:0006892)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)	BLOC-1 complex (GO:0031083)|cytosol (GO:0005829)|transport vesicle (GO:0030133)				ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GTCTGGACATCGTGGCTGGCT	0.726									Hermansky-Pudlak syndrome																													uc002pax.3		NA																	0					0						c.(526-528)ATC>ATG		biogenesis of lysosomal organelles complex-1,							13.0	14.0	14.0					19																	45683082		1621	3337	4958	SO:0001583	missense	388552	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex	identical protein binding	g.chr19:45683082C>G	AY531266	CCDS12656.1	19q13.32	2012-08-01	2008-08-11			ENSG00000189114		"""Biogenesis of lysosomal organelles complex-1 subunits"""	20914	protein-coding gene	gene with protein product	"""BLOC-1 subunit 3"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 3"", ""Hermansky-Pudlak syndrome 8"""	609762				15102850	Standard	NM_212550		Approved	BLOS3, HPS8	uc002pax.4	Q6QNY0		ENST00000433642.2:c.528C>G	19.37:g.45683082C>G	ENSP00000393840:p.Ile176Met					TRAPPC6A_uc002pav.2_5'Flank|TRAPPC6A_uc002paw.2_5'Flank	p.I176M	NM_212550	NP_997715	Q6QNY0	BL1S3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	2	624	+		Ovarian(192;0.0728)|all_neural(266;0.112)	176					B2RXB8	Missense_Mutation	SNP	ENST00000433642.2	37	c.528C>G	CCDS12656.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384408	0.61845	.	.	ENSG00000189114	ENST00000433642	.	.	.	3.21	0.888	0.19206	.	0.059188	0.64402	D	0.000004	T	0.55000	0.1893	L	0.50333	1.59	0.34321	D	0.686592	D	0.63880	0.993	P	0.58210	0.835	T	0.63211	-0.6688	9	0.72032	D	0.01	-6.4359	6.344	0.21339	0.0:0.7468:0.0:0.2532	.	176	Q6QNY0	BL1S3_HUMAN	M	176	.	ENSP00000393840:I176M	I	+	3	3	BLOC1S3	50374922	0.934000	0.31675	0.995000	0.50966	0.942000	0.58702	-0.308000	0.08156	0.128000	0.18479	0.462000	0.41574	ATC		0.726	BLOC1S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457559.1	NM_212550		9	22	0	0	0	0	9	22				
OPA3	80207	broad.mit.edu	37	19	46056955	46056955	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:46056955C>G	ENST00000263275.4	-	2	411	c.357G>C	c.(355-357)tgG>tgC	p.W119C	OPA3_ENST00000544371.1_Missense_Mutation_p.W66C|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	119					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GCAGCGCGTTCCAGGCAGCAC	0.716																																						uc002pck.3		NA																	0					0						c.(355-357)TGG>TGC		OPA3 protein isoform b							13.0	15.0	14.0					19																	46056955		2189	4280	6469	SO:0001583	missense	80207				response to stimulus|visual perception	mitochondrion		g.chr19:46056955C>G	AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.357G>C	19.37:g.46056955C>G	ENSP00000263275:p.Trp119Cys					OPA3_uc002pcj.3_Intron|OPA3_uc010xxk.1_Missense_Mutation_p.W66C	p.W119C	NM_025136	NP_079412	Q9H6K4	OPA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)	2	457	-		Ovarian(192;0.051)|all_neural(266;0.112)	119			Potential.		Q6P384|Q8N784	Missense_Mutation	SNP	ENST00000263275.4	37	c.357G>C	CCDS12668.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.455893	0.63401	.	.	ENSG00000125741	ENST00000263275;ENST00000544371	D;D	0.82255	-1.59;-1.59	4.6	4.6	0.57074	.	.	.	.	.	D	0.83778	0.5328	L	0.44542	1.39	0.43250	D	0.995171	D	0.58620	0.983	P	0.53035	0.716	D	0.84445	0.0585	9	0.49607	T	0.09	.	15.2967	0.73913	0.0:1.0:0.0:0.0	.	119	Q9H6K4	OPA3_HUMAN	C	119;66	ENSP00000263275:W119C;ENSP00000442839:W66C	ENSP00000263275:W119C	W	-	3	0	OPA3	50748795	0.601000	0.26907	0.994000	0.49952	0.975000	0.68041	0.910000	0.28571	2.571000	0.86741	0.561000	0.74099	TGG		0.716	OPA3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459601.1			6	20	0	0	0	0	6	20				
CCDC9	26093	broad.mit.edu	37	19	47763996	47763996	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:47763996G>A	ENST00000221922.6	+	5	584	c.362G>A	c.(361-363)cGa>cAa	p.R121Q		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	121	Gly-rich.						poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGCAGCCTCGAGGAGGAGGA	0.716																																						uc010xym.1		NA																	0					0						c.(361-363)CGA>CAA		coiled-coil domain containing 9							15.0	17.0	16.0					19																	47763996		2136	4222	6358	SO:0001583	missense	26093							g.chr19:47763996G>A	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.362G>A	19.37:g.47763996G>A	ENSP00000221922:p.Arg121Gln						p.R121Q	NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)	5	569	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)	121			Gly-rich.			Missense_Mutation	SNP	ENST00000221922.6	37	c.362G>A	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	g	13.71	2.318626	0.40996	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.24151	1.87	3.32	2.15	0.27550	.	0.583822	0.15667	N	0.250610	T	0.25901	0.0631	M	0.61703	1.905	0.38682	D	0.952569	D	0.67145	0.996	P	0.47134	0.539	T	0.15694	-1.0428	10	0.13470	T	0.59	-4.9815	7.7979	0.29158	0.0:0.2597:0.7403:0.0	.	121	Q9Y3X0	CCDC9_HUMAN	Q	121	ENSP00000221922:R121Q	ENSP00000221922:R121Q	R	+	2	0	CCDC9	52455836	0.999000	0.42202	1.000000	0.80357	0.960000	0.62799	0.662000	0.25038	1.871000	0.54225	0.431000	0.28591	CGA		0.716	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603		12	24	0	0	0	0	12	24				
HRC	3270	broad.mit.edu	37	19	49657579	49657579	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:49657579C>G	ENST00000252825.4	-	1	1102	c.916G>C	c.(916-918)Gat>Cat	p.D306H	HRC_ENST00000595625.1_Missense_Mutation_p.D306H	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	306	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCATCATCATCATTGTCATCT	0.532																																					Melanoma(37;75 1097 24567 25669 30645)	uc002pmv.2		NA																	0				ovary(1)	1						c.(916-918)GAT>CAT		histidine rich calcium binding protein							193.0	147.0	162.0					19																	49657579		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657579C>G		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.916G>C	19.37:g.49657579C>G	ENSP00000252825:p.Asp306His						p.D306H	NM_002152	NP_002143	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1103	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	306			4 X tandem repeats, acidic.|1-3.|6 X approximate tandem repeats.		Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.916G>C	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.982811	0.53827	.	.	ENSG00000130528	ENST00000252825;ENST00000391863;ENST00000434964	T	0.48201	0.82	3.18	3.18	0.36537	.	.	.	.	.	T	0.65933	0.2739	M	0.81942	2.565	0.37574	D	0.91955	D	0.89917	1.0	D	0.74674	0.984	T	0.71467	-0.4584	9	0.49607	T	0.09	-6.0289	10.1876	0.43006	0.0:1.0:0.0:0.0	.	306	P23327	SRCH_HUMAN	H	306;5;276	ENSP00000252825:D306H	ENSP00000252825:D306H	D	-	1	0	HRC	54349391	0.179000	0.23135	0.052000	0.19188	0.168000	0.22595	1.675000	0.37555	1.491000	0.48482	0.462000	0.41574	GAT		0.532	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		17	55	0	0	0	0	17	55				
ALDH16A1	126133	broad.mit.edu	37	19	49967126	49967126	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:49967126G>A	ENST00000293350.4	+	9	1277	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	ALDH16A1_ENST00000455361.2_Missense_Mutation_p.D321N|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.D207N|CTD-3148I10.9_ENST00000599536.1_Silent_p.*7*|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.D209N	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	372						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCAGGCTGGTGATGTGCCTTC	0.602																																						uc002pnt.2		NA																	0				skin(1)	1						c.(1114-1116)GAT>AAT		aldehyde dehydrogenase 16 family, member A1							239.0	237.0	238.0					19																	49967126		2203	4300	6503	SO:0001583	missense	126133						oxidoreductase activity|protein binding	g.chr19:49967126G>A	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1114G>A	19.37:g.49967126G>A	ENSP00000293350:p.Asp372Asn					ALDH16A1_uc010yar.1_Missense_Mutation_p.D321N|ALDH16A1_uc010yas.1_Missense_Mutation_p.D207N|ALDH16A1_uc010yat.1_Missense_Mutation_p.D209N	p.D372N	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	9	1230	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	372					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	c.1114G>A	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	G	3.898	-0.022712	0.07634	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	4.95	-0.476	0.12100	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.840846	0.10897	N	0.622098	T	0.16685	0.0401	L	0.28054	0.825	0.09310	N	1	B;B;B	0.20459	0.007;0.045;0.021	B;B;B	0.16289	0.007;0.014;0.015	T	0.30736	-0.9968	10	0.18276	T	0.48	-14.3008	5.585	0.17269	0.2016:0.3086:0.4899:0.0	.	209;321;372	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	N	372;321;209;207	ENSP00000293350:D372N;ENSP00000410142:D321N;ENSP00000445088:D209N;ENSP00000398675:D207N	ENSP00000293350:D372N	D	+	1	0	ALDH16A1	54658938	0.000000	0.05858	0.001000	0.08648	0.267000	0.26476	0.167000	0.16602	0.124000	0.18369	0.484000	0.47621	GAT		0.602	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		49	221	0	0	0	0	49	221				
KLK4	9622	broad.mit.edu	37	19	51410250	51410250	+	Silent	SNP	A	A	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:51410250A>C	ENST00000324041.1	-	5	704	c.705T>G	c.(703-705)ggT>ggG	p.G235G	KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_3'UTR	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	235	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		TGGTGTAGACACCTGGCACGC	0.552																																						uc002pua.1		NA																	0					0						c.(703-705)GGT>GGG		kallikrein-related peptidase 4 preproprotein							110.0	109.0	109.0					19																	51410250		2203	4300	6503	SO:0001819	synonymous_variant	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51410250A>C	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.705T>G	19.37:g.51410250A>C						KLK4_uc002pty.1_3'UTR|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_Silent_p.G140G|KLK4_uc002puc.1_RNA	p.G235G	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	5	705	-		all_neural(266;0.026)	235			Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Silent	SNP	ENST00000324041.1	37	c.705T>G	CCDS12809.1																																																																																				0.552	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		33	96	0	0	0	0	33	96				
ZNF766	90321	broad.mit.edu	37	19	52793884	52793884	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:52793884C>T	ENST00000439461.1	+	4	883	c.840C>T	c.(838-840)ttC>ttT	p.F280F	CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000359102.4_Silent_p.F295F|ZNF766_ENST00000593612.1_Silent_p.F295F|ZNF766_ENST00000599581.1_3'UTR	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	280					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(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GCAAGGTCTTCAGTCGAATTA	0.403																																						uc002pyr.1		NA																	0					0						c.(838-840)TTC>TTT		zinc finger protein 766							40.0	41.0	41.0					19																	52793884		2195	4299	6494	SO:0001819	synonymous_variant	90321				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52793884C>T	AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"""Zinc fingers, C2H2-type"", ""-"""	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.840C>T	19.37:g.52793884C>T						ZNF766_uc002pys.1_3'UTR|ZNF766_uc002pyt.1_Silent_p.F295F	p.F280F	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN		GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)	4	883	+			280			C2H2-type 4.		B2RNE0|Q7Z326	Silent	SNP	ENST00000439461.1	37	c.840C>T	CCDS46163.1																																																																																				0.403	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851		7	24	0	0	0	0	7	24				
ZNF816	125893	broad.mit.edu	37	19	53454424	53454424	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:53454424G>A	ENST00000357666.4	-	5	904	c.604C>T	c.(604-606)Cat>Tat	p.H202Y	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.H202Y	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	202					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)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TTAGAAATATGAGTTTTGAGC	0.368																																						uc002qal.1		NA																	0					0						c.(604-606)CAT>TAT		zinc finger protein 816A							73.0	83.0	80.0					19																	53454424		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454424G>A	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.604C>T	19.37:g.53454424G>A	ENSP00000350295:p.His202Tyr					ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.H186Y	p.H202Y	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN		GBM - Glioblastoma multiforme(134;0.0313)	5	905	-			202					A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.604C>T	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	0.005	-2.235066	0.00277	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.05649	3.41;3.41	1.77	-3.54	0.04653	.	.	.	.	.	T	0.01661	0.0053	N	0.02011	-0.69	0.09310	N	1	D	0.56746	0.977	P	0.45071	0.468	T	0.16364	-1.0405	9	0.02654	T	1	.	0.4337	0.00475	0.1745:0.2444:0.2507:0.3303	.	202	Q0VGE8	ZN816_HUMAN	Y	202	ENSP00000350295:H202Y;ENSP00000403266:H202Y	ENSP00000350295:H202Y	H	-	1	0	ZNF816	58146236	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-1.118000	0.03280	-1.459000	0.01914	0.185000	0.17295	CAT		0.368	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		19	66	0	0	0	0	19	66				
LILRA6	79168	broad.mit.edu	37	19	54744933	54744933	+	Silent	SNP	G	G	A	rs370563015		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:54744933G>A	ENST00000396365.2	-	5	768	c.729C>T	c.(727-729)ctC>ctT	p.L243L	LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Silent_p.L243L|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Silent_p.L243L|LILRA6_ENST00000440558.2_Silent_p.L243L	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	243	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.L243L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	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)		AGCCACACTGGAGGGTCAGGC	0.637																																						uc002qeu.1		NA																	1	Substitution - coding silent(1)		ovary(1)	skin(2)	2						c.(727-729)CTC>CTT		leukocyte immunoglobulin-like receptor,		G		1,4405	2.1+/-5.4	0,1,2202	69.0	80.0	76.0		729	-2.5	0.8	19		76	0,8600		0,0,4300	no	coding-synonymous	LILRA6	NM_024318.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		243/482	54744933	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79168					integral to membrane	receptor activity	g.chr19:54744933G>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.729C>T	19.37:g.54744933G>A						LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Silent_p.L243L|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Silent_p.L243L|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.L243L|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Silent_p.L243L|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Silent_p.L243L|LILRA6_uc010yeq.1_Silent_p.L243L|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Silent_p.L104L	p.L243L	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	853	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		243			Extracellular (Potential).|Ig-like C2-type 1.			Silent	SNP	ENST00000396365.2	37	c.729C>T	CCDS42610.1																																																																																				0.637	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		13	95	0	0	0	0	13	95				
FCAR	2204	broad.mit.edu	37	19	55401037	55401037	+	Silent	SNP	G	G	A	rs370102050		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:55401037G>A	ENST00000355524.3	+	5	682	c.672G>A	c.(670-672)acG>acA	p.T224T	FCAR_ENST00000353758.4_Silent_p.T115T|FCAR_ENST00000391724.3_Silent_p.T190T|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391725.3_Silent_p.T202T|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000391723.3_Missense_Mutation_p.D188N|FCAR_ENST00000345937.4_Silent_p.T128T|FCAR_ENST00000391726.3_Silent_p.T116T|FCAR_ENST00000359272.4_Silent_p.T212T	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	224					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		AAGATTACACGACGCAGAACT	0.532																																						uc002qhr.1		NA																	0				ovary(1)|skin(1)	2						c.(670-672)ACG>ACA		Fc alpha receptor isoform a precursor		G	,,,,,ASN/ASP,,	2,4404	4.2+/-10.8	0,2,2201	337.0	331.0	333.0		672,606,384,636,348,562,345,570	-4.4	0.0	19		333	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,missense,coding-synonymous,coding-synonymous	FCAR	NM_002000.2,NM_133269.2,NM_133271.2,NM_133272.2,NM_133273.2,NM_133274.2,NM_133277.2,NM_133278.2	,,,,,23,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,,,,,	224/288,202/266,128/192,212/276,116/180,188/210,115/179,190/254	55401037	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55401037G>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.672G>A	19.37:g.55401037G>A						FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Silent_p.T175T|FCAR_uc010esi.1_Silent_p.T101T|FCAR_uc002qhu.1_Silent_p.T128T|FCAR_uc002qhv.1_Silent_p.T202T|FCAR_uc002qhw.1_Silent_p.T212T|FCAR_uc002qhx.1_Silent_p.T116T|FCAR_uc002qhy.1_Silent_p.T190T|FCAR_uc002qhz.1_Missense_Mutation_p.D188N|FCAR_uc002qia.1_Silent_p.T115T	p.T224T	NM_002000	NP_001991	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	5	869	+			224			Extracellular (Potential).		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Silent	SNP	ENST00000355524.3	37	c.672G>A	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	G	2.663	-0.279366	0.05642	4.54E-4	0.0	ENSG00000186431	ENST00000391723	T	0.00571	6.5	3.9	-4.45	0.03546	.	.	.	.	.	T	0.00356	0.0011	.	.	.	0.09310	N	0.999999	B	0.24882	0.113	B	0.11329	0.006	T	0.43458	-0.9390	8	0.87932	D	0	.	3.1141	0.06369	0.3884:0.0:0.3031:0.3085	.	188	Q92588	.	N	188	ENSP00000375603:D188N	ENSP00000375603:D188N	D	+	1	0	FCAR	60092849	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.708000	0.01891	-0.421000	0.07416	-0.484000	0.04775	GAC		0.532	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		102	303	0	0	0	0	102	303				
FCAR	2204	broad.mit.edu	37	19	55401049	55401049	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:55401049G>C	ENST00000355524.3	+	5	694	c.684G>C	c.(682-684)ttG>ttC	p.L228F	FCAR_ENST00000353758.4_Missense_Mutation_p.L119F|FCAR_ENST00000391724.3_Missense_Mutation_p.L194F|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391725.3_Missense_Mutation_p.L206F|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000391723.3_Missense_Mutation_p.D192H|FCAR_ENST00000345937.4_Missense_Mutation_p.L132F|FCAR_ENST00000391726.3_Missense_Mutation_p.L120F|FCAR_ENST00000359272.4_Missense_Mutation_p.L216F	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	228					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CGCAGAACTTGATCCGCATGG	0.537																																						uc002qhr.1		NA																	0				ovary(1)|skin(1)	2						c.(682-684)TTG>TTC		Fc alpha receptor isoform a precursor							337.0	330.0	333.0					19																	55401049		2203	4300	6503	SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55401049G>C	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.684G>C	19.37:g.55401049G>C	ENSP00000347714:p.Leu228Phe					FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.L179F|FCAR_uc010esi.1_Missense_Mutation_p.L105F|FCAR_uc002qhu.1_Missense_Mutation_p.L132F|FCAR_uc002qhv.1_Missense_Mutation_p.L206F|FCAR_uc002qhw.1_Missense_Mutation_p.L216F|FCAR_uc002qhx.1_Missense_Mutation_p.L120F|FCAR_uc002qhy.1_Missense_Mutation_p.L194F|FCAR_uc002qhz.1_Missense_Mutation_p.D192H|FCAR_uc002qia.1_Missense_Mutation_p.L119F	p.L228F	NM_002000	NP_001991	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	5	881	+			228			Helical; (Potential).		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.684G>C	CCDS12907.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.59|11.59	1.682718|1.682718	0.29872|0.29872	.|.	.|.	ENSG00000186431|ENSG00000186431	ENST00000391723|ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000353758;ENST00000359272;ENST00000391724	T|T;T;T;T;T;T;T	0.00597|0.04234	6.31|3.67;6.49;6.31;4.67;6.25;6.39;6.17	3.9|3.9	0.2|0.2	0.15181|0.15181	.|.	.|.	.|.	.|.	.|.	T|T	0.12305|0.12305	0.0299|0.0299	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D|P;P;D;B;P;D;P	0.89917|0.76494	1.0|0.868;0.578;0.999;0.036;0.808;0.999;0.73	D|B;B;D;B;B;D;P	0.69142|0.71656	0.962|0.23;0.12;0.964;0.017;0.391;0.974;0.463	T|T	0.20107|0.20107	-1.0285|-1.0285	8|8	0.87932|0.62326	D|D	0|0.03	.|.	1.9489|1.9489	0.03362|0.03362	0.1178:0.2035:0.4698:0.209|0.1178:0.2035:0.4698:0.209	.|.	192|119;194;120;216;206;132;228	Q92588|Q92592;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071	.|.;.;.;.;.;.;FCAR_HUMAN	H|F	192|120;228;206;132;119;216;194	ENSP00000375603:D192H|ENSP00000375606:L120F;ENSP00000347714:L228F;ENSP00000375605:L206F;ENSP00000338257:L132F;ENSP00000338058:L119F;ENSP00000352218:L216F;ENSP00000375604:L194F	ENSP00000375603:D192H|ENSP00000338257:L132F	D|L	+|+	1|3	0|2	FCAR|FCAR	60092861|60092861	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.067000|0.067000	0.16453|0.16453	-0.308000|-0.308000	0.08156|0.08156	0.401000|0.401000	0.25424|0.25424	0.557000|0.557000	0.71058|0.71058	GAT|TTG		0.537	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		108	317	0	0	0	0	108	317				
ZNF784	147808	broad.mit.edu	37	19	56133815	56133815	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:56133815C>T	ENST00000325351.4	-	2	313	c.274G>A	c.(274-276)Gag>Aag	p.E92K	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	92					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCGCCTCCCTCGGCCCCAGCC	0.711																																						uc002qll.1		NA																	0					0						c.(274-276)GAG>AAG		zinc finger protein 784							13.0	12.0	12.0					19																	56133815		2188	4290	6478	SO:0001583	missense	147808				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56133815C>T	AK074859	CCDS12930.1	19q13.42	2013-01-08			ENSG00000179922	ENSG00000179922		"""Zinc fingers, C2H2-type"""	33111	protein-coding gene	gene with protein product							Standard	NM_203374		Approved	MGC75238	uc002qll.1	Q8NCA9	OTTHUMG00000180860	ENST00000325351.4:c.274G>A	19.37:g.56133815C>T	ENSP00000320096:p.Glu92Lys					ZNF784_uc010etb.1_RNA	p.E92K	NM_203374	NP_976308	Q8NCA9	ZN784_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	288	-			92						Missense_Mutation	SNP	ENST00000325351.4	37	c.274G>A	CCDS12930.1	.	.	.	.	.	.	.	.	.	.	C	9.949	1.219722	0.22373	.	.	ENSG00000179922	ENST00000325351	T	0.08634	3.07	3.3	3.3	0.37823	.	0.931884	0.08809	N	0.890619	T	0.05593	0.0147	N	0.19112	0.55	0.35695	D	0.815152	P	0.38827	0.649	B	0.28465	0.09	T	0.36720	-0.9736	10	0.56958	D	0.05	-6.4422	10.3798	0.44104	0.0:1.0:0.0:0.0	.	92	Q8NCA9	ZN784_HUMAN	K	92	ENSP00000320096:E92K	ENSP00000320096:E92K	E	-	1	0	ZNF784	60825627	0.000000	0.05858	0.004000	0.12327	0.203000	0.24098	0.442000	0.21628	2.154000	0.67381	0.462000	0.41574	GAG		0.711	ZNF784-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453355.2	NM_203374		5	18	0	0	0	0	5	18				
ZNF671	79891	broad.mit.edu	37	19	58233748	58233748	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:58233748C>A	ENST00000317398.6	-	3	419	c.324G>T	c.(322-324)tgG>tgT	p.W108C	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000596939.1_3'UTR|ZNF671_ENST00000335820.3_Missense_Mutation_p.W10C|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	108	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGTCATACACCCAGGGCTCTT	0.537																																						uc002qpz.3		NA																	0				ovary(1)	1						c.(322-324)TGG>TGT		zinc finger protein 671							214.0	210.0	211.0					19																	58233748		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58233748C>A		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.324G>T	19.37:g.58233748C>A	ENSP00000321848:p.Trp108Cys					ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.W31C|ZNF671_uc010yhf.1_Missense_Mutation_p.W10C	p.W108C	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	423	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	108			KRAB.		A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.324G>T	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518992	0.27211	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.09723	3.02;2.95	2.26	-4.52	0.03472	Krueppel-associated box (2);	.	.	.	.	T	0.10680	0.0261	M	0.67517	2.055	0.09310	N	1	D	0.62365	0.991	B	0.43623	0.425	T	0.10451	-1.0629	9	0.56958	D	0.05	.	3.8264	0.08856	0.5759:0.273:0.0:0.151	.	108	Q8TAW3	ZN671_HUMAN	C	108;10	ENSP00000321848:W108C;ENSP00000338670:W10C	ENSP00000321848:W108C	W	-	3	0	ZNF671	62925560	0.000000	0.05858	0.000000	0.03702	0.656000	0.38851	-1.278000	0.02809	-0.626000	0.05596	0.313000	0.20887	TGG		0.537	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		10	209	1	0	7.48e-07	7.92e-07	10	209				
ZNF584	201514	broad.mit.edu	37	19	58921347	58921347	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:58921347G>C	ENST00000306910.4	+	2	581	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	ZNF584_ENST00000596281.1_Intron|CTD-2619J13.14_ENST00000593393.1_lincRNA|ZNF584_ENST00000322834.7_Missense_Mutation_p.E12Q|ZNF584_ENST00000593920.1_Intron|ZNF584_ENST00000599238.1_Intron|ZNF584_ENST00000596921.1_Intron	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	20	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		GGTGATGTTTGAGGATGTGAC	0.498																																						uc002qsp.2		NA																	0					0						c.(58-60)GAG>CAG		zinc finger protein 584							247.0	215.0	226.0					19																	58921347		2203	4300	6503	SO:0001583	missense	201514				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58921347G>C	AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"""Zinc fingers, C2H2-type"", ""-"""	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.58G>C	19.37:g.58921347G>C	ENSP00000306756:p.Glu20Gln					ZNF584_uc010yia.1_Intron|ZNF584_uc002qsr.2_Intron|ZNF584_uc010yib.1_Missense_Mutation_p.E12Q	p.E20Q	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)	2	510	+		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	20			KRAB.		A8K203	Missense_Mutation	SNP	ENST00000306910.4	37	c.58G>C	CCDS12979.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559218	0.65538	.	.	ENSG00000171574	ENST00000306910;ENST00000322834	T;T	0.02197	4.4;4.4	4.12	3.05	0.35203	Krueppel-associated box (4);	.	.	.	.	T	0.09024	0.0223	M	0.72353	2.195	0.24278	N	0.995217	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.977	T	0.23547	-1.0185	9	0.18710	T	0.47	.	9.973	0.41765	0.1036:0.0:0.8964:0.0	.	12;20	F6W0P0;Q8IVC4	.;ZN584_HUMAN	Q	20;12	ENSP00000306756:E20Q;ENSP00000320731:E12Q	ENSP00000306756:E20Q	E	+	1	0	ZNF584	63613159	0.850000	0.29656	0.955000	0.39395	0.996000	0.88848	1.282000	0.33226	2.159000	0.67721	0.556000	0.70494	GAG		0.498	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1	NM_173548		23	81	0	0	0	0	23	81				
GRHL1	29841	broad.mit.edu	37	2	10132193	10132193	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:10132193C>G	ENST00000324907.9	+	11	1516	c.1380C>G	c.(1378-1380)ttC>ttG	p.F460L	GRHL1_ENST00000405379.2_Missense_Mutation_p.F460L|GRHL1_ENST00000324883.5_Missense_Mutation_p.F271L	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	460					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TCACAGTTTTCAAACCCTTCA	0.433																																						uc002raa.2		NA																	0				pancreas(1)|skin(1)	2						c.(1378-1380)TTC>TTG		grainyhead-like 1							115.0	99.0	104.0					2																	10132193		2203	4300	6503	SO:0001583	missense	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10132193C>G	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.1380C>G	2.37:g.10132193C>G	ENSP00000324693:p.Phe460Leu					GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.F271L|GRHL1_uc010yjb.1_Missense_Mutation_p.F309L	p.F460L	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	11	1551	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		460					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	37	c.1380C>G	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945478	0.73672	.	.	ENSG00000134317	ENST00000405379;ENST00000324883;ENST00000324907	T;T;T	0.19250	2.58;2.16;2.58	6.03	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.18215	0.0437	L	0.42632	1.34	0.80722	D	1	P;P	0.45044	0.495;0.849	B;B	0.42522	0.381;0.39	T	0.03103	-1.1072	10	0.22706	T	0.39	-13.474	9.6553	0.39921	0.0:0.7928:0.0:0.2072	.	271;460	Q9NZI5-2;Q9NZI5	.;GRHL1_HUMAN	L	460;271;460	ENSP00000384209:F460L;ENSP00000324494:F271L;ENSP00000324693:F460L	ENSP00000324494:F271L	F	+	3	2	GRHL1	10049644	1.000000	0.71417	1.000000	0.80357	0.076000	0.17211	1.346000	0.33964	1.579000	0.49836	-0.145000	0.13849	TTC		0.433	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		4	26	0	0	0	0	4	26				
GREB1	9687	broad.mit.edu	37	2	11774361	11774361	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:11774361G>T	ENST00000381486.2	+	29	5396	c.5096G>T	c.(5095-5097)tGg>tTg	p.W1699L	GREB1_ENST00000234142.5_Missense_Mutation_p.W1699L|GREB1_ENST00000396123.1_Missense_Mutation_p.W697L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1699						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTGCGGAAGTGGTCCAGCAAG	0.607																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NA																	0				ovary(1)	1						c.(5095-5097)TGG>TTG		growth regulation by estrogen in breast cancer 1							66.0	73.0	70.0					2																	11774361		2121	4234	6355	SO:0001583	missense	9687					integral to membrane		g.chr2:11774361G>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5096G>T	2.37:g.11774361G>T	ENSP00000370896:p.Trp1699Leu					GREB1_uc002rbp.1_Missense_Mutation_p.W697L	p.W1699L	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	29	5396	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1699					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.5096G>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251523	0.80135	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.65178	-0.14;-0.14;-0.14	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.71005	0.3289	M	0.75615	2.305	0.80722	D	1	P	0.42010	0.768	P	0.46172	0.506	T	0.76271	-0.3020	10	0.72032	D	0.01	-18.5369	18.329	0.90262	0.0:0.0:1.0:0.0	.	1699	Q4ZG55	GREB1_HUMAN	L	1699;1699;697	ENSP00000370896:W1699L;ENSP00000234142:W1699L;ENSP00000379429:W697L	ENSP00000234142:W1699L	W	+	2	0	GREB1	11691812	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	9.338000	0.96553	2.321000	0.78463	0.462000	0.41574	TGG		0.607	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		16	64	1	0	6.32e-08	6.72e-08	16	64				
RAD51AP2	729475	broad.mit.edu	37	2	17699613	17699613	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:17699613C>T	ENST00000399080.2	-	1	93	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	24										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCGGGTCCTCAGGAGGCGTT	0.602																																						uc002rcl.1		NA																	0				ovary(1)	1						c.(70-72)GAG>AAG		RAD51 associated protein 2							72.0	78.0	76.0					2																	17699613		1939	4138	6077	SO:0001583	missense	729475							g.chr2:17699613C>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.70G>A	2.37:g.17699613C>T	ENSP00000382030:p.Glu24Lys					RAD51AP2_uc010exn.1_Missense_Mutation_p.E15K	p.E24K	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN			1	94	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		24						Missense_Mutation	SNP	ENST00000399080.2	37	c.70G>A	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250253	0.59212	.	.	ENSG00000214842	ENST00000399080	T	0.29142	1.58	3.58	1.7	0.24286	.	.	.	.	.	T	0.20251	0.0487	N	0.24115	0.695	0.09310	N	1	B	0.32829	0.386	B	0.31191	0.125	T	0.15093	-1.0449	9	0.62326	D	0.03	-0.0477	10.0506	0.42214	0.0:0.5435:0.4565:0.0	.	24	Q09MP3	R51A2_HUMAN	K	24	ENSP00000382030:E24K	ENSP00000382030:E24K	E	-	1	0	RAD51AP2	17563094	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.359000	0.20233	0.455000	0.26910	0.591000	0.81541	GAG		0.602	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		40	109	0	0	0	0	40	109				
WDR35	57539	broad.mit.edu	37	2	20130163	20130165	+	Nonsense_Mutation	TNP	TCA	TCA	ATG			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:20130163_20130165TCA>ATG	ENST00000345530.3	-	26	3261_3263	c.3146_3148TGA>CAT	c.(3145-3150)cTGAag>cCATag	p.1049_1050LK>P*	WDR35_ENST00000416055.2_Nonsense_Mutation_p.522_523LK>P*|WDR35_ENST00000281405.4_Nonsense_Mutation_p.1038_1039LK>P*	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1049					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACCTGTCTTCAGTGCAGTGTC	0.433																																						uc002rdi.2		NA																	0				ovary(1)	1						c.(3145-3150)CTGAAG>CCATAG		WD repeat domain 35 isoform 1																																				SO:0001587	stop_gained	57539							g.chr2:20130163_20130165TCA>ATG	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.3146_3148TGA>CAT	2.37:g.20130163TCA>ATG	ENSP00000314444:p.L1049_K1050delinsP*					WDR35_uc002rdj.2_Nonsense_Mutation_p.1038_1039LK>P*|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Nonsense_Mutation_p.522_523LK>P*	p.1049_1050LK>P*	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			26	3254_3256	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1049_1050					B3KVI5|Q4ZG01|Q8NE11	Nonsense_Mutation	TNP	ENST00000345530.3	37	c.3146_3148TGA>CAT	CCDS33152.1																																																																																				0.433	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		19	173	0	0	0	0	19	173				
APOB	338	broad.mit.edu	37	2	21238409	21238409	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:21238409G>A	ENST00000233242.1	-	22	3468	c.3341C>T	c.(3340-3342)aCa>aTa	p.T1114I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1114					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)					TTCTTCCTTTGTGTCACAACT	0.423																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(3340-3342)ACA>ATA		apolipoprotein B precursor	Atorvastatin(DB01076)						72.0	72.0	72.0					2																	21238409		2203	4300	6503	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.chr2:21238409G>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.3341C>T	2.37:g.21238409G>A	ENSP00000233242:p.Thr1114Ile						p.T1114I	NM_000384	NP_000375	P04114	APOB_HUMAN			22	3469	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1114					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.3341C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683413	0.68157	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00705	5.81	5.43	-7.2	0.01495	.	1.815830	0.02453	N	0.085789	T	0.00580	0.0019	N	0.22421	0.69	0.09310	N	0.999998	B	0.27971	0.196	B	0.21708	0.036	T	0.44081	-0.9351	10	0.41790	T	0.15	.	1.5713	0.02616	0.1567:0.3024:0.2768:0.2641	.	1114	P04114	APOB_HUMAN	I	1114	ENSP00000233242:T1114I	ENSP00000233242:T1114I	T	-	2	0	APOB	21091914	0.000000	0.05858	0.000000	0.03702	0.835000	0.47333	-1.136000	0.03222	-1.693000	0.01427	-0.868000	0.02995	ACA		0.423	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			6	33	0	0	0	0	6	33				
CAD	790	broad.mit.edu	37	2	27463930	27463930	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:27463930G>A	ENST00000403525.1	+	36	5598	c.5454G>A	c.(5452-5454)ctG>ctA	p.L1818L	CAD_ENST00000264705.4_Silent_p.L1881L			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCAGAGCTGATGGGAACCC	0.622																																						uc002rji.2		NA																	0				ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(5641-5643)CTG>CTA		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						104.0	106.0	106.0					2																	27463930		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27463930G>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5454G>A	2.37:g.27463930G>A						CAD_uc010eyw.2_Silent_p.L1818L	p.L1881L	NM_004341	NP_004332	P27708	PYR1_HUMAN			37	5805	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1881			Linker.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.5643G>A		.	.	.	.	.	.	.	.	.	.	G	7.358	0.624278	0.14193	.	.	ENSG00000084774	ENST00000456311	.	.	.	4.92	0.936	0.19488	.	.	.	.	.	T	0.52661	0.1748	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44802	-0.9304	4	.	.	.	4.0E-4	6.6478	0.22945	0.1658:0.2789:0.5553:0.0	.	.	.	.	N	186	.	.	D	+	1	0	CAD	27317434	0.904000	0.30761	1.000000	0.80357	0.988000	0.76386	0.741000	0.26202	0.679000	0.31345	-0.224000	0.12420	GAT		0.622	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			43	101	0	0	0	0	43	101				
EPCAM	4072	broad.mit.edu	37	2	47601169	47601169	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:47601169C>G	ENST00000263735.4	+	3	765	c.407C>G	c.(406-408)tCt>tGt	p.S136C	EPCAM_ENST00000405271.1_Missense_Mutation_p.S164C	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	136					negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						ATAACCTGCTCTGAGCGAGTG	0.433																																						uc002rvx.2		NA																	3	Whole gene deletion(2)|Unknown(1)		haematopoietic_and_lymphoid_tissue(3)	skin(1)	1						c.(406-408)TCT>TGT		epithelial cell adhesion molecule precursor							55.0	50.0	52.0					2																	47601169		2203	4300	6503	SO:0001583	missense	4072	Lynch_syndrome			positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	g.chr2:47601169C>G	M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"""CD molecules"""	11529	protein-coding gene	gene with protein product		185535	"""antigen identified by monoclonal antibody AUA1"", ""tumor-associated calcium signal transducer 1"""	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.407C>G	2.37:g.47601169C>G	ENSP00000263735:p.Ser136Cys					EPCAM_uc002rvw.2_Missense_Mutation_p.S164C	p.S136C	NM_002354	NP_002345	P16422	EPCAM_HUMAN			3	765	+			136			Extracellular (Potential).		P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	Missense_Mutation	SNP	ENST00000263735.4	37	c.407C>G	CCDS1833.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732636	0.48939	.	.	ENSG00000119888	ENST00000405271;ENST00000263735	T;T	0.65364	-0.15;-0.15	5.84	2.83	0.33086	Thyroglobulin type-1 (2);	0.891179	0.10033	N	0.724446	T	0.52500	0.1738	N	0.22421	0.69	0.09310	N	1	D;D	0.63880	0.988;0.993	P;P	0.49999	0.533;0.628	T	0.43032	-0.9416	10	0.66056	D	0.02	-0.0851	4.7779	0.13189	0.2054:0.4941:0.2256:0.0749	.	136;164	P16422;B5MCA4	EPCAM_HUMAN;.	C	164;136	ENSP00000385476:S164C;ENSP00000263735:S136C	ENSP00000263735:S136C	S	+	2	0	EPCAM	47454673	0.000000	0.05858	0.068000	0.19968	0.951000	0.60555	0.350000	0.20079	1.499000	0.48617	0.655000	0.94253	TCT		0.433	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2			8	39	0	0	0	0	8	39				
RPS27A	6233	broad.mit.edu	37	2	55460509	55460509	+	Missense_Mutation	SNP	C	C	G	rs368266147		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:55460509C>G	ENST00000272317.6	+	3	383	c.59C>G	c.(58-60)tCg>tGg	p.S20W	CLHC1_ENST00000401408.1_5'Flank|CLHC1_ENST00000407122.1_5'Flank|RPS27A_ENST00000404735.1_Missense_Mutation_p.S20W|CLHC1_ENST00000406437.2_5'Flank|CLHC1_ENST00000406076.1_5'Flank|CLHC1_ENST00000494539.1_5'Flank|RPS27A_ENST00000402285.3_Missense_Mutation_p.S20W	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	20	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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 initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|small ribosomal subunit (GO:0015935)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|ovary(1)|urinary_tract(1)	3						GTTGAACCCTCGGATACGATA	0.408																																						uc010yow.1		NA																	0				ovary(1)	1						c.(58-60)TCG>TGG		ubiquitin and ribosomal protein S27a precursor							93.0	87.0	89.0					2																	55460509		2203	4300	6503	SO:0001583	missense	6233				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome	g.chr2:55460509C>G	AB007163	CCDS33202.1	2p16	2011-04-06			ENSG00000143947	ENSG00000143947		"""S ribosomal proteins"""	10417	protein-coding gene	gene with protein product	"""ubiquitin carboxyl extension protein 80"""	191343				9582194	Standard	NM_001135592		Approved	UBCEP80, Uba80, S27A	uc010yow.2	P62979	OTTHUMG00000151919	ENST00000272317.6:c.59C>G	2.37:g.55460509C>G	ENSP00000272317:p.Ser20Trp					C2orf63_uc002ryh.2_5'Flank|C2orf63_uc002ryi.2_5'Flank|C2orf63_uc002ryj.2_5'Flank|RPS27A_uc002ryk.2_Missense_Mutation_p.S20W|RPS27A_uc002ryl.2_RNA|RPS27A_uc002rym.2_RNA	p.S20W	NM_001135592	NP_001129064	P62979	RS27A_HUMAN			3	256	+			20			Ubiquitin-like.		P02248|P02249|P02250|P14798|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BQ77|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000272317.6	37	c.59C>G	CCDS33202.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357451	0.82243	.	.	ENSG00000143947	ENST00000402285;ENST00000272317;ENST00000449323;ENST00000404735	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.28	5.28	0.74379	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	D	0.88321	0.6405	M	0.92122	3.275	0.80722	D	1	D	0.56287	0.975	P	0.58577	0.841	D	0.91098	0.4912	10	0.72032	D	0.01	.	18.8962	0.92424	0.0:1.0:0.0:0.0	.	20	P62979	RS27A_HUMAN	W	20	ENSP00000383981:S20W;ENSP00000272317:S20W;ENSP00000408482:S20W;ENSP00000385659:S20W	ENSP00000272317:S20W	S	+	2	0	RPS27A	55314013	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.740000	0.62087	2.444000	0.82710	0.563000	0.77884	TCG		0.408	RPS27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324423.15			4	30	0	0	0	0	4	30				
AAK1	22848	broad.mit.edu	37	2	69704114	69704114	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:69704114C>T	ENST00000409085.4	-	21	3065	c.2689G>A	c.(2689-2691)Gat>Aat	p.D897N	AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	897					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						AGATTACTATCTTCTGCAGCT	0.423																																						uc002sfp.2		NA																	0					0						c.(2689-2691)GAT>AAT		AP2 associated kinase 1							71.0	68.0	69.0					2																	69704114		1892	4112	6004	SO:0001583	missense	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69704114C>T	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2689G>A	2.37:g.69704114C>T	ENSP00000386456:p.Asp897Asn						p.D897N	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN			21	3194	-			897					Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	37	c.2689G>A	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482025	0.84747	.	.	ENSG00000115977	ENST00000409085	T	0.26223	1.75	5.71	5.71	0.89125	.	.	.	.	.	T	0.28797	0.0714	N	0.24115	0.695	0.80722	D	1	D	0.53151	0.958	P	0.49252	0.604	T	0.02868	-1.1100	9	0.87932	D	0	.	18.8518	0.92235	0.0:1.0:0.0:0.0	.	897	Q2M2I8	AAK1_HUMAN	N	897	ENSP00000386456:D897N	ENSP00000386456:D897N	D	-	1	0	AAK1	69557618	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.319000	0.51983	2.694000	0.91930	0.655000	0.94253	GAT		0.423	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		3	11	0	0	0	0	3	11				
STAMBP	10617	broad.mit.edu	37	2	74074516	74074516	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:74074516G>C	ENST00000394070.2	+	5	881	c.378G>C	c.(376-378)aaG>aaC	p.K126N	STAMBP_ENST00000409707.1_Missense_Mutation_p.K126N|STAMBP_ENST00000536064.1_Missense_Mutation_p.K126N|STAMBP_ENST00000394073.1_Missense_Mutation_p.K126N|STAMBP_ENST00000339566.3_Missense_Mutation_p.K126N	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	126	Glu-rich.|Interaction with CHMP3.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						CTTTGTAGAAGAAGGAAGCAG	0.448																																						uc002sjs.2		NA																	0				ovary(1)|lung(1)|breast(1)|pancreas(1)	4						c.(376-378)AAG>AAC		STAM binding protein							42.0	45.0	44.0					2																	74074516		2203	4300	6503	SO:0001583	missense	10617				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding	g.chr2:74074516G>C	BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.378G>C	2.37:g.74074516G>C	ENSP00000377633:p.Lys126Asn					STAMBP_uc002sjt.2_Missense_Mutation_p.K126N|STAMBP_uc002sju.2_Missense_Mutation_p.K126N|STAMBP_uc002sjv.2_Missense_Mutation_p.K126N	p.K126N	NM_201647	NP_964010	O95630	STABP_HUMAN			5	428	+			126			Glu-rich.|Interaction with CHMP3.		B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	ENST00000394070.2	37	c.378G>C	CCDS1929.1	.	.	.	.	.	.	.	.	.	.	G	7.743	0.701658	0.15172	.	.	ENSG00000124356	ENST00000339566;ENST00000539933;ENST00000409707;ENST00000452725;ENST00000432295;ENST00000424659;ENST00000394073;ENST00000394070;ENST00000536064	T;T;T;T;T;T	0.46451	1.88;1.88;1.87;1.88;1.88;0.87	4.73	3.83	0.44106	.	0.309943	0.34959	N	0.003557	T	0.22781	0.0550	N	0.12569	0.235	0.51233	D	0.999914	B	0.02656	0.0	B	0.04013	0.001	T	0.05402	-1.0887	10	0.10636	T	0.68	-19.994	12.6901	0.56970	0.0834:0.0:0.9166:0.0	.	126	O95630	STABP_HUMAN	N	126	ENSP00000344742:K126N;ENSP00000386548:K126N;ENSP00000413874:K126N;ENSP00000377636:K126N;ENSP00000377633:K126N;ENSP00000443502:K126N	ENSP00000344742:K126N	K	+	3	2	STAMBP	73928024	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.105000	0.50314	1.329000	0.45376	0.650000	0.86243	AAG		0.448	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2	NM_006463		8	29	0	0	0	0	8	29				
MOGS	7841	broad.mit.edu	37	2	74690021	74690021	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:74690021C>T	ENST00000233616.4	-	4	1057	c.895G>A	c.(895-897)Ggc>Agc	p.G299S	MOGS_ENST00000452063.2_Missense_Mutation_p.G193S|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000535045.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	299					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)	p.G299C(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CCTGGCAAGCCGAGGTAGCGT	0.582																																						uc010ffj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(895-897)GGC>AGC		mannosyl-oligosaccharide glucosidase isoform 1																																				SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74690021C>T	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.895G>A	2.37:g.74690021C>T	ENSP00000233616:p.Gly299Ser					MOGS_uc010ffh.2_Missense_Mutation_p.G24S|MOGS_uc010yrt.1_Missense_Mutation_p.G180S|MOGS_uc010ffi.2_Missense_Mutation_p.G193S|MOGS_uc010yru.1_3'UTR	p.G299S	NM_006302	NP_006293	Q13724	MOGS_HUMAN			4	1058	-			299			Lumenal (Potential).		A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.895G>A	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307081	0.60305	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000448666	T;T;T	0.37058	1.22;1.22;1.22	4.85	4.85	0.62838	.	0.120199	0.56097	D	0.000037	T	0.44603	0.1301	L	0.31578	0.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.12091	-1.0561	10	0.10377	T	0.69	-15.5785	15.5191	0.75851	0.0:1.0:0.0:0.0	.	299	Q13724	MOGS_HUMAN	S	299;193;193	ENSP00000233616:G299S;ENSP00000388201:G193S;ENSP00000410992:G193S	ENSP00000233616:G299S	G	-	1	0	MOGS	74543529	0.997000	0.39634	0.973000	0.42090	0.974000	0.67602	4.727000	0.61993	2.517000	0.84864	0.655000	0.94253	GGC		0.582	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		51	134	0	0	0	0	51	134				
CAPG	822	broad.mit.edu	37	2	85628366	85628366	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:85628366C>T	ENST00000409921.1	-	5	504	c.438G>A	c.(436-438)aaG>aaA	p.K146K	CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000409670.1_Silent_p.K146K|CAPG_ENST00000409724.1_Silent_p.K146K|CAPG_ENST00000263867.4_Silent_p.K146K			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	882					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						CACGGATGTTCTTCTTCCCCT	0.592																																						uc002spl.1		NA																	0					0						c.(436-438)AAG>AAA		gelsolin-like capping protein							186.0	176.0	180.0					2																	85628366		2203	4300	6503	SO:0001819	synonymous_variant	822				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding	g.chr2:85628366C>T	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.438G>A	2.37:g.85628366C>T						CAPG_uc002spm.1_Silent_p.K146K|CAPG_uc010ysq.1_Silent_p.K146K|CAPG_uc010fgi.1_Silent_p.K146K|CAPG_uc010fgj.1_Silent_p.K40K	p.K146K	NM_001747	NP_001738	P40121	CAPG_HUMAN			5	688	-			146			Nuclear localization signal (Potential).		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	ENST00000409921.1	37	c.438G>A	CCDS58715.1																																																																																				0.592	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1	NM_001747		34	96	0	0	0	0	34	96				
CAPG	822	broad.mit.edu	37	2	85628369	85628369	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:85628369C>A	ENST00000409921.1	-	5	501	c.435G>T	c.(433-435)aaG>aaT	p.K145N	CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000409670.1_Missense_Mutation_p.K145N|CAPG_ENST00000409724.1_Missense_Mutation_p.K145N|CAPG_ENST00000263867.4_Missense_Mutation_p.K145N			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	881					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						GGATGTTCTTCTTCCCCTTCA	0.602																																						uc002spl.1		NA																	0					0						c.(433-435)AAG>AAT		gelsolin-like capping protein							183.0	174.0	177.0					2																	85628369		2203	4300	6503	SO:0001583	missense	822				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding	g.chr2:85628369C>A	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.435G>T	2.37:g.85628369C>A	ENSP00000387063:p.Lys145Asn					CAPG_uc002spm.1_Missense_Mutation_p.K145N|CAPG_uc010ysq.1_Missense_Mutation_p.K145N|CAPG_uc010fgi.1_Missense_Mutation_p.K145N|CAPG_uc010fgj.1_Missense_Mutation_p.K39N	p.K145N	NM_001747	NP_001738	P40121	CAPG_HUMAN			5	685	-			145			Nuclear localization signal (Potential).		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000409921.1	37	c.435G>T	CCDS58715.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532093	0.45073	.	.	ENSG00000042493	ENST00000542681;ENST00000263867;ENST00000409921;ENST00000409670;ENST00000409724;ENST00000439385;ENST00000449030;ENST00000447219;ENST00000409275	T;T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29	5.97	2.8	0.32819	.	0.043550	0.85682	D	0.000000	T	0.29588	0.0738	M	0.69185	2.1	0.38430	D	0.946406	P;P;D	0.67145	0.857;0.842;0.996	B;B;P	0.56823	0.38;0.26;0.807	T	0.10154	-1.0642	10	0.62326	D	0.03	.	8.5447	0.33415	0.0:0.7256:0.0:0.2744	.	124;145;145	B4DU58;B8ZZS7;P40121	.;.;CAPG_HUMAN	N	124;145;145;145;145;145;145;145;145	ENSP00000263867:K145N;ENSP00000387063:K145N;ENSP00000386315:K145N;ENSP00000386965:K145N;ENSP00000391923:K145N;ENSP00000403330:K145N;ENSP00000398232:K145N;ENSP00000386596:K145N	ENSP00000263867:K145N	K	-	3	2	CAPG	85481880	0.973000	0.33851	1.000000	0.80357	0.997000	0.91878	0.204000	0.17335	0.869000	0.35703	0.655000	0.94253	AAG		0.602	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1	NM_001747		34	95	1	0	2.76e-19	3.01e-19	34	95				
TTL	150465	broad.mit.edu	37	2	113258824	113258824	+	Missense_Mutation	SNP	G	G	C	rs2943625		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:113258824G>C	ENST00000233336.6	+	4	702	c.511G>C	c.(511-513)Gat>Cat	p.D171H		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	171	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		AGAGCTTCTCGATTTCATAGA	0.458			T	ETV6	ALL																																	uc002thu.2		NA		Dom	yes		2	2q13	150465	T	tubulin tyrosine ligase			L	ETV6		ALL		0					0						c.(511-513)GAT>CAT		tubulin tyrosine ligase							84.0	79.0	80.0					2																	113258824		2203	4300	6503	SO:0001583	missense	150465				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr2:113258824G>C		CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.511G>C	2.37:g.113258824G>C	ENSP00000233336:p.Asp171His					TTL_uc010fkm.1_5'Flank	p.D171H	NM_153712	NP_714923	Q8NG68	TTL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)	4	690	+		Ovarian(717;0.024)	171			TTL.		Q585T3|Q7Z302|Q8N426	Missense_Mutation	SNP	ENST00000233336.6	37	c.511G>C	CCDS2096.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506181	0.85282	.	.	ENSG00000114999	ENST00000233336	T	0.05786	3.39	5.45	5.45	0.79879	.	0.157883	0.56097	D	0.000033	T	0.19127	0.0459	M	0.72118	2.19	0.80722	D	1	D	0.52996	0.957	P	0.53185	0.72	T	0.00114	-1.2040	10	0.54805	T	0.06	.	18.0476	0.89337	0.0:0.0:1.0:0.0	rs2943625	171	Q8NG68	TTL_HUMAN	H	171	ENSP00000233336:D171H	ENSP00000233336:D171H	D	+	1	0	TTL	112975295	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.336000	0.65935	2.562000	0.86427	0.455000	0.32223	GAT		0.458	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	NM_153712		9	50	0	0	0	0	9	50				
TTL	150465	broad.mit.edu	37	2	113258890	113258890	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:113258890G>C	ENST00000233336.6	+	4	768	c.577G>C	c.(577-579)Gag>Cag	p.E193Q		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	193	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		TCTGCTGCTTGAGCCAGGTCA	0.463			T	ETV6	ALL																																	uc002thu.2		NA		Dom	yes		2	2q13	150465	T	tubulin tyrosine ligase			L	ETV6		ALL		0					0						c.(577-579)GAG>CAG		tubulin tyrosine ligase							81.0	79.0	80.0					2																	113258890		2203	4299	6502	SO:0001583	missense	150465				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr2:113258890G>C		CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.577G>C	2.37:g.113258890G>C	ENSP00000233336:p.Glu193Gln					TTL_uc010fkm.1_5'Flank	p.E193Q	NM_153712	NP_714923	Q8NG68	TTL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)	4	756	+		Ovarian(717;0.024)	193			TTL.		Q585T3|Q7Z302|Q8N426	Missense_Mutation	SNP	ENST00000233336.6	37	c.577G>C	CCDS2096.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745705	0.30955	.	.	ENSG00000114999	ENST00000233336	T	0.05786	3.39	5.45	5.45	0.79879	.	0.052419	0.64402	D	0.000001	T	0.08268	0.0206	L	0.38531	1.155	0.58432	D	0.999998	B	0.17667	0.023	B	0.17979	0.02	T	0.17961	-1.0352	10	0.48119	T	0.1	.	18.0476	0.89337	0.0:0.0:1.0:0.0	.	193	Q8NG68	TTL_HUMAN	Q	193	ENSP00000233336:E193Q	ENSP00000233336:E193Q	E	+	1	0	TTL	112975361	1.000000	0.71417	0.891000	0.34965	0.502000	0.33828	7.495000	0.81514	2.562000	0.86427	0.455000	0.32223	GAG		0.463	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	NM_153712		13	49	0	0	0	0	13	49				
CLASP1	23332	broad.mit.edu	37	2	122165228	122165228	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:122165228C>T	ENST00000263710.4	-	25	2877	c.2488G>A	c.(2488-2490)Gat>Aat	p.D830N	CLASP1_ENST00000545861.1_Missense_Mutation_p.D577N|CLASP1_ENST00000397587.3_Missense_Mutation_p.D810N|CLASP1_ENST00000409078.3_Missense_Mutation_p.D802N|CLASP1_ENST00000541859.1_Missense_Mutation_p.D563N|CLASP1_ENST00000541377.1_Missense_Mutation_p.D808N|CLASP1_ENST00000455322.2_Missense_Mutation_p.D802N	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	830					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTTGAGGCATCACTGTTGGCA	0.502																																						uc002tnc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2488-2490)GAT>AAT		CLIP-associating protein 1 isoform 1							159.0	150.0	153.0					2																	122165228		2029	4187	6216	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122165228C>T	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2488G>A	2.37:g.122165228C>T	ENSP00000263710:p.Asp830Asn					CLASP1_uc010yyv.1_5'UTR|CLASP1_uc002tmz.2_5'UTR|CLASP1_uc002tna.2_5'UTR|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.D810N|CLASP1_uc010yza.1_Missense_Mutation_p.D802N|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Missense_Mutation_p.D801N	p.D830N	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN			25	2878	-	Renal(3;0.0496)		830					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.2488G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.565891	0.96540	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861;ENST00000463621	T;T;T;T;T;T	0.54866	2.08;2.03;1.99;2.03;0.55;2.0	5.8	5.8	0.92144	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76723	0.4027	M	0.83118	2.625	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.998	D;D;D;D	0.81914	0.989;0.99;0.977;0.995	T	0.78969	-0.1994	10	0.87932	D	0	-21.8999	20.0601	0.97671	0.0:1.0:0.0:0.0	.	802;810;808;830	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	N	830;802;810;808;563;802;577;135	ENSP00000263710:D830N;ENSP00000389372:D802N;ENSP00000380717:D810N;ENSP00000441625:D808N;ENSP00000441770:D563N;ENSP00000386442:D802N	ENSP00000263710:D830N	D	-	1	0	CLASP1	121881698	1.000000	0.71417	0.984000	0.44739	0.952000	0.60782	7.464000	0.80887	2.747000	0.94245	0.460000	0.39030	GAT		0.502	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		38	115	0	0	0	0	38	115				
LIMS2	55679	broad.mit.edu	37	2	128415128	128415128	+	Missense_Mutation	SNP	G	G	A	rs369093987		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:128415128G>A	ENST00000355119.4	-	2	185	c.20C>T	c.(19-21)tCg>tTg	p.S7L	LIMS2_ENST00000409455.1_Missense_Mutation_p.S2L|LIMS2_ENST00000545738.2_Missense_Mutation_p.S29L|LIMS2_ENST00000409808.2_Missense_Mutation_p.S2L|LIMS2_ENST00000324938.5_Missense_Mutation_p.S31L|LIMS2_ENST00000410011.1_Missense_Mutation_p.S2L	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	7					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CAAGGCGTCCGACATATTGCT	0.662																																						uc002tpa.2		NA																	0					0						c.(19-21)TCG>TTG		LIM and senescent cell antigen-like domains 2		G	LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	41.0	43.0	42.0		86,20,5,92	5.2	0.9	2		42	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	LIMS2	NM_001136037.2,NM_001161403.1,NM_001161404.1,NM_017980.4	145,145,145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	29/364,7/342,2/337,31/366	128415128	1,13005	2203	4300	6503	SO:0001583	missense	55679				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	g.chr2:128415128G>A	AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.20C>T	2.37:g.128415128G>A	ENSP00000347240:p.Ser7Leu					LIMS2_uc002tox.2_Missense_Mutation_p.S31L|LIMS2_uc010fmb.2_5'UTR|LIMS2_uc002toy.2_Missense_Mutation_p.S2L|LIMS2_uc010yzm.1_Missense_Mutation_p.S29L|LIMS2_uc002toz.2_Missense_Mutation_p.S2L|LIMS2_uc002tpb.2_Missense_Mutation_p.S2L	p.S7L	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0681)	2	186	-	Colorectal(110;0.1)		7					A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Missense_Mutation	SNP	ENST00000355119.4	37	c.20C>T	CCDS54395.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162662	0.57368	0.0	1.16E-4	ENSG00000072163	ENST00000545738;ENST00000355119;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000544917;ENST00000422034	T;T;T;T;T;T	0.26223	1.75;1.77;1.85;1.75;1.75;1.75	5.25	5.25	0.73442	Zinc finger, LIM-type (1);	0.130716	0.52532	D	0.000066	T	0.20820	0.0501	L	0.38838	1.175	0.80722	D	1	B;B;P	0.35982	0.301;0.091;0.531	B;B;B	0.31101	0.124;0.017;0.09	T	0.03945	-1.0990	10	0.16896	T	0.51	.	18.8407	0.92183	0.0:0.0:1.0:0.0	.	29;7;31	F5H6E6;Q7Z4I7;Q7Z4I7-2	.;LIMS2_HUMAN;.	L	29;7;31;2;2;2;2;29;2	ENSP00000443794:S29L;ENSP00000347240:S7L;ENSP00000326888:S31L;ENSP00000386383:S2L;ENSP00000386637:S2L;ENSP00000387002:S2L	ENSP00000326888:S31L	S	-	2	0	LIMS2	128131598	1.000000	0.71417	0.950000	0.38849	0.472000	0.32918	9.724000	0.98775	2.449000	0.82847	0.462000	0.41574	TCG		0.662	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980		24	61	0	0	0	0	24	61				
R3HDM1	23518	broad.mit.edu	37	2	136399347	136399347	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:136399347C>T	ENST00000264160.4	+	15	1831	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	R3HDM1_ENST00000409606.1_Silent_p.I487I|R3HDM1_ENST00000410054.1_Silent_p.I431I|R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000409478.1_Intron	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	487							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GTATTCTGATCAACCCACAAA	0.418																																						uc002tuo.2		NA																	0				skin(1)	1						c.(1459-1461)ATC>ATT		R3H domain containing 1							71.0	67.0	68.0					2																	136399347		2203	4300	6503	SO:0001819	synonymous_variant	23518						nucleic acid binding	g.chr2:136399347C>T	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1461C>T	2.37:g.136399347C>T						R3HDM1_uc010fni.2_Silent_p.I485I|R3HDM1_uc002tup.2_Silent_p.I431I|R3HDM1_uc010zbh.1_Intron	p.I487I	NM_015361	NP_056176	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	15	1831	+			487					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent	SNP	ENST00000264160.4	37	c.1461C>T	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	C	8.123	0.781338	0.16120	.	.	ENSG00000048991	ENST00000429703	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.986	19.8411	0.96685	0.0:1.0:0.0:0.0	.	.	.	.	X	176	.	.	Q	+	1	0	R3HDM1	136115817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.835000	0.69368	2.683000	0.91414	0.655000	0.94253	CAA		0.418	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		14	47	0	0	0	0	14	47				
NEB	4703	broad.mit.edu	37	2	152381070	152381070	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:152381070C>G	ENST00000172853.10	-	124	17377	c.17230G>C	c.(17230-17232)Gac>Cac	p.D5744H	NEB_ENST00000427231.2_Missense_Mutation_p.D7445H|NEB_ENST00000409198.1_Missense_Mutation_p.D5744H|NEB_ENST00000603639.1_Missense_Mutation_p.D7445H|NEB_ENST00000397345.3_Missense_Mutation_p.D7445H|NEB_ENST00000604864.1_Missense_Mutation_p.D7445H			P20929	NEBU_HUMAN	nebulin	5744					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTTGATGTCTGGTCGATCA	0.502																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(17230-17232)GAC>CAC		nebulin isoform 3							212.0	214.0	213.0					2																	152381070		2011	4200	6211	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152381070C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17230G>C	2.37:g.152381070C>G	ENSP00000172853:p.Asp5744His					NEB_uc002txr.2_Missense_Mutation_p.D2167H|NEB_uc002txt.3_Missense_Mutation_p.D249H	p.D5744H	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	124	17421	-			5744			Nebulin 157.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.17230G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.927361|4.927361	0.92389|0.92389	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853|ENST00000434685	T;T;T;T;T|.	0.51817|.	0.69;1.49;1.49;0.69;0.69|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.110683|.	0.64402|.	D|.	0.000004|.	T|T	0.71459|0.71459	0.3342|0.3342	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.97110|.	1.0;0.999;0.991|.	T|T	0.68394|0.68394	-0.5420|-0.5420	10|5	0.72032|.	D|.	0.01|.	.|.	19.0816|19.0816	0.93185|0.93185	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	5744;7445;2175|.	P20929;F8WCP0;Q14215|.	NEBU_HUMAN;.;.|.	H|H	5744;7445;7445;1793;2175;5744|67	ENSP00000386259:D5744H;ENSP00000380505:D7445H;ENSP00000416578:D7445H;ENSP00000410961:D2175H;ENSP00000172853:D5744H|.	ENSP00000172853:D5744H|.	D|Q	-|-	1|3	0|2	NEB|NEB	152089316|152089316	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.748000|7.748000	0.85085|0.85085	2.499000|2.499000	0.84300|0.84300	0.591000|0.591000	0.81541|0.81541	GAC|CAG		0.502	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		49	146	0	0	0	0	49	146				
KCNJ3	3760	broad.mit.edu	37	2	155555807	155555807	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:155555807G>A	ENST00000295101.2	+	1	997	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	AC061961.2_ENST00000443901.1_RNA|KCNJ3_ENST00000544049.1_Missense_Mutation_p.A174T	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	174					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CATCGTGGACGCCTTCCTCAT	0.597																																						uc002tyv.1		NA																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(520-522)GCC>ACC		potassium inwardly-rectifying channel J3	Halothane(DB01159)						90.0	76.0	81.0					2																	155555807		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155555807G>A	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.520G>A	2.37:g.155555807G>A	ENSP00000295101:p.Ala174Thr					KCNJ3_uc010zce.1_Missense_Mutation_p.A174T	p.A174T	NM_002239	NP_002230	P48549	IRK3_HUMAN			1	715	+			174			Helical; Name=M2; (By similarity).		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.520G>A	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761064	0.89932	.	.	ENSG00000162989	ENST00000295101;ENST00000544049	D;T	0.96619	-4.07;1.56	5.41	5.41	0.78517	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98024	0.9349	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.98900	1.0776	10	0.87932	D	0	.	17.7563	0.88450	0.0:0.0:1.0:0.0	.	174;174	B4DEW7;P48549	.;IRK3_HUMAN	T	174	ENSP00000295101:A174T;ENSP00000438410:A174T	ENSP00000295101:A174T	A	+	1	0	KCNJ3	155264053	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.794000	0.99096	2.537000	0.85549	0.561000	0.74099	GCC		0.597	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		13	49	0	0	0	0	13	49				
TANC1	85461	broad.mit.edu	37	2	160087378	160087378	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:160087378C>T	ENST00000263635.6	+	27	5678	c.5441C>T	c.(5440-5442)tCt>tTt	p.S1814F	TANC1_ENST00000454300.1_Missense_Mutation_p.S1708F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1814					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCAGTCCACTCTCAAGAGAAC	0.463																																						uc002uag.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(5440-5442)TCT>TTT		tetratricopeptide repeat, ankyrin repeat and							84.0	84.0	84.0					2																	160087378		1938	4151	6089	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160087378C>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.5441C>T	2.37:g.160087378C>T	ENSP00000263635:p.Ser1814Phe					TANC1_uc010zcm.1_3'UTR|TANC1_uc010fon.2_Missense_Mutation_p.S658F	p.S1814F	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			27	5715	+			1814					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.5441C>T	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.889493	0.00527	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.69561	-0.41;-0.4	6.06	5.19	0.71726	.	0.363432	0.36628	N	0.002494	T	0.40670	0.1126	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18493	-1.0335	9	.	.	.	.	11.5054	0.50463	0.0:0.1368:0.7232:0.14	.	1814	Q9C0D5	TANC1_HUMAN	F	1708;1814	ENSP00000396339:S1708F;ENSP00000263635:S1814F	.	S	+	2	0	TANC1	159795624	0.969000	0.33509	0.006000	0.13384	0.002000	0.02628	1.068000	0.30629	1.584000	0.49913	-0.133000	0.14855	TCT		0.463	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			8	43	0	0	0	0	8	43				
SCN2A	6326	broad.mit.edu	37	2	166210745	166210745	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:166210745C>T	ENST00000375437.2	+	17	3253	c.2963C>T	c.(2962-2964)tCt>tTt	p.S988F	SCN2A_ENST00000357398.3_Missense_Mutation_p.S988F|SCN2A_ENST00000283256.6_Missense_Mutation_p.S988F|SCN2A_ENST00000375427.2_Missense_Mutation_p.S988F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	988					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCTTCAGTTCTGACAATCTT	0.383																																						uc002udc.2		NA																	0				ovary(6)|breast(1)|pancreas(1)	8						c.(2962-2964)TCT>TTT		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						176.0	184.0	181.0					2																	166210745		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166210745C>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2963C>T	2.37:g.166210745C>T	ENSP00000364586:p.Ser988Phe					SCN2A_uc002udd.2_Missense_Mutation_p.S988F|SCN2A_uc002ude.2_Missense_Mutation_p.S988F	p.S988F	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			17	3253	+			988			II.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.2963C>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285934	0.80803	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000005	D	0.98128	0.9382	M	0.88704	2.975	0.46241	D	0.998949	D;P	0.54772	0.968;0.754	P;P	0.57371	0.819;0.602	D	0.98735	1.0714	10	0.87932	D	0	.	19.8068	0.96534	0.0:1.0:0.0:0.0	.	988;988	Q99250-2;Q99250	.;SCN2A_HUMAN	F	988	ENSP00000364586:S988F;ENSP00000349973:S988F;ENSP00000283256:S988F;ENSP00000364576:S988F	ENSP00000283256:S988F	S	+	2	0	SCN2A	165918991	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.995000	0.70631	2.658000	0.90341	0.655000	0.94253	TCT		0.383	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		40	171	0	0	0	0	40	171				
SCN1A	6323	broad.mit.edu	37	2	166900256	166900256	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:166900256C>A	ENST00000303395.4	-	11	1965	c.1966G>T	c.(1966-1968)Gga>Tga	p.G656*	SCN1A_ENST00000409050.1_Intron|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.G656*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.G656*|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	656					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACTGAAGGTCCACCAACCAAG	0.478																																						uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(1966-1968)GGA>TGA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						142.0	121.0	128.0					2																	166900256		2203	4300	6503	SO:0001587	stop_gained	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900256C>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1966G>T	2.37:g.166900256C>A	ENSP00000303540:p.Gly656*					SCN1A_uc002udo.3_Nonsense_Mutation_p.G525*|SCN1A_uc010fpk.2_Intron	p.G656*	NM_006920	NP_008851	P35498	SCN1A_HUMAN			11	1984	-			656					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	c.1966G>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	37	6.505488	0.97620	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405	.	.	.	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.4438	0.90676	0.0:1.0:0.0:0.0	.	.	.	.	X	656	.	ENSP00000303540:G656X	G	-	1	0	SCN1A	166608502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.495000	0.60353	2.423000	0.82170	0.561000	0.74099	GGA		0.478	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		6	75	1	0	8.13e-05	8.47e-05	6	75				
NOSTRIN	115677	broad.mit.edu	37	2	169684718	169684718	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:169684718C>T	ENST00000317647.7	+	4	477	c.248C>T	c.(247-249)gCg>gTg	p.A83V	NOSTRIN_ENST00000397206.2_Missense_Mutation_p.A5V|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.A55V|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.A5V|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.A55V|NOSTRIN_ENST00000444448.2_Missense_Mutation_p.A83V|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.A83V	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	83					endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AAATCCACAGCGGACCTGCAT	0.463																																						uc002ueg.2		NA																	0					0						c.(247-249)GCG>GTG		nitric oxide synthase trafficker isoform 2							146.0	137.0	140.0					2																	169684718		1936	4143	6079	SO:0001583	missense	115677				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding	g.chr2:169684718C>T	AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.248C>T	2.37:g.169684718C>T	ENSP00000318921:p.Ala83Val					NOSTRIN_uc002uef.2_Missense_Mutation_p.A83V|NOSTRIN_uc002uei.2_5'UTR|NOSTRIN_uc010fpu.2_Missense_Mutation_p.A55V|NOSTRIN_uc002ueh.2_Missense_Mutation_p.A5V|NOSTRIN_uc002uej.2_5'UTR	p.A83V	NM_001039724	NP_001034813	Q8IVI9	NOSTN_HUMAN			4	252	+			83					A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Missense_Mutation	SNP	ENST00000317647.7	37	c.248C>T	CCDS42771.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300723	0.81136	.	.	ENSG00000163072	ENST00000458381;ENST00000444448;ENST00000317647;ENST00000445023;ENST00000397206;ENST00000397209;ENST00000421711;ENST00000447264	T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53	6.04	5.16	0.70880	Fps/Fes/Fer/CIP4 homology (1);	0.050030	0.85682	D	0.000000	T	0.70911	0.3278	M	0.72894	2.215	0.53005	D	0.999966	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.72625	0.856;0.971;0.978	T	0.73883	-0.3842	10	0.56958	D	0.05	-13.0207	15.1589	0.72764	0.0:0.8582:0.1418:0.0	.	55;83;83	Q8IVI9-2;Q8IVI9;E7EPT9	.;NOSTN_HUMAN;.	V	83;83;83;5;5;55;55;5	ENSP00000402140:A83V;ENSP00000394051:A83V;ENSP00000318921:A83V;ENSP00000404413:A5V;ENSP00000380390:A5V;ENSP00000380392:A55V;ENSP00000401316:A55V;ENSP00000390383:A5V	ENSP00000318921:A83V	A	+	2	0	NOSTRIN	169392964	0.875000	0.30112	0.243000	0.24186	0.896000	0.52359	2.748000	0.47483	1.553000	0.49476	0.563000	0.77884	GCG		0.463	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4	NM_052946		14	48	0	0	0	0	14	48				
HOXD8	3234	broad.mit.edu	37	2	176995585	176995585	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:176995585C>T	ENST00000313173.4	+	1	1118	c.491C>T	c.(490-492)tCg>tTg	p.S164L	HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Missense_Mutation_p.S164L|HOXD8_ENST00000548663.1_Missense_Mutation_p.S60L|HOXD8_ENST00000450510.2_Missense_Mutation_p.S164L|HOXD8_ENST00000429017.1_5'UTR	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	164					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GACTGTAAATCGTCCAGTGGT	0.488																																						uc002uko.2		NA																	0					0						c.(490-492)TCG>TTG		homeobox D8							79.0	83.0	82.0					2																	176995585		2193	4283	6476	SO:0001583	missense	3234				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176995585C>T		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.491C>T	2.37:g.176995585C>T	ENSP00000315949:p.Ser164Leu					uc002ukl.1_5'Flank|uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_5'UTR|HOXD8_uc002ukp.2_Missense_Mutation_p.S164L	p.S164L	NM_019558	NP_062458	P13378	HXD8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	1	1109	+			164					F8WBG7|Q5BL00|Q8IXZ1	Missense_Mutation	SNP	ENST00000313173.4	37	c.491C>T	CCDS2268.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892982	0.33442	.	.	ENSG00000175879	ENST00000313173;ENST00000544999;ENST00000548663;ENST00000450510	T;T;D;T	0.90444	1.2;1.2;-2.67;1.2	4.63	3.73	0.42828	.	0.000000	0.50627	D	0.000105	T	0.81536	0.4843	N	0.11106	0.095	0.49051	D	0.999743	D;B	0.61080	0.989;0.354	B;B	0.43809	0.432;0.115	T	0.79487	-0.1783	10	0.23302	T	0.38	.	14.2518	0.66026	0.1503:0.8497:0.0:0.0	.	164;164	Q8IXZ1;P13378	.;HXD8_HUMAN	L	164;164;60;164	ENSP00000315949:S164L;ENSP00000437431:S164L;ENSP00000448196:S60L;ENSP00000409026:S164L	ENSP00000315949:S164L	S	+	2	0	HOXD8	176703831	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.678000	0.84035	1.027000	0.39758	0.655000	0.94253	TCG		0.488	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1			25	118	0	0	0	0	25	118				
TTN	7273	broad.mit.edu	37	2	179398942	179398942	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:179398942C>T	ENST00000591111.1	-	308	97701	c.97477G>A	c.(97477-97479)Gaa>Aaa	p.E32493K	TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25194K|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25069K|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E34134K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31566K|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25261K|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32493					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)			GGGCCAATTTCAATGGATGCC	0.443																																						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.(94696-94698)GAA>AAA		titin isoform N2-A							115.0	113.0	114.0					2																	179398942		1961	4149	6110	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179398942C>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.97477G>A	2.37:g.179398942C>T	ENSP00000465570:p.Glu32493Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E25261K|TTN_uc010zfi.1_Missense_Mutation_p.E25194K|TTN_uc010zfj.1_Missense_Mutation_p.E25069K	p.E31566K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	94920	-			32493					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.94696G>A		.	.	.	.	.	.	.	.	.	.	C	13.94	2.386415	0.42308	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63417	-0.04;0.2;0.18;0.17	5.48	5.48	0.80851	Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.49626	0.1568	N	0.14661	0.345	0.47621	D	0.999478	P;P;P;P	0.52842	0.842;0.842;0.842;0.956	B;B;B;B	0.41764	0.321;0.236;0.321;0.366	T	0.59679	-0.7409	9	0.87932	D	0	.	18.4948	0.90861	0.0:1.0:0.0:0.0	.	25069;25194;25261;32493	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	31566;25069;25261;25194;25066	ENSP00000343764:E31566K;ENSP00000434586:E25069K;ENSP00000340554:E25261K;ENSP00000352154:E25194K	ENSP00000340554:E25261K	E	-	1	0	TTN	179107188	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.369000	0.52365	2.741000	0.93983	0.555000	0.69702	GAA		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		30	86	0	0	0	0	30	86				
TTN	7273	broad.mit.edu	37	2	179498729	179498729	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:179498729G>A	ENST00000591111.1	-	181	37798	c.37574C>T	c.(37573-37575)tCt>tTt	p.S12525F	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S5226F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S5101F|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S14166F|TTN_ENST00000342992.6_Missense_Mutation_p.S11598F|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S5293F			Q8WZ42	TITIN_HUMAN	titin	12525	Ig-like 83.				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)			TTTTTCATGAGAAAGTTCACA	0.368																																						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.(34792-34794)TCT>TTT		titin isoform N2-A							220.0	205.0	209.0					2																	179498729		1864	4096	5960	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179498729G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37574C>T	2.37:g.179498729G>A	ENSP00000465570:p.Ser12525Phe					TTN_uc010zfh.1_Missense_Mutation_p.S5293F|TTN_uc010zfi.1_Missense_Mutation_p.S5226F|TTN_uc010zfj.1_Missense_Mutation_p.S5101F	p.S11598F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		180	35017	-			12525					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.34793C>T		.	.	.	.	.	.	.	.	.	.	G	13.84	2.358648	0.41801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.95	5.95	0.96441	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81941	0.4929	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.979;0.979;0.979;0.989	T	0.82192	-0.0579	9	0.87932	D	0	.	20.3697	0.98890	0.0:0.0:1.0:0.0	.	5101;5226;5293;12525	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	11598;5101;5293;5226;5101	ENSP00000343764:S11598F;ENSP00000434586:S5101F;ENSP00000340554:S5293F;ENSP00000352154:S5226F	ENSP00000340554:S5293F	S	-	2	0	TTN	179206974	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.999000	0.88496	2.811000	0.96726	0.655000	0.94253	TCT		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		69	156	0	0	0	0	69	156				
ZNF385B	151126	broad.mit.edu	37	2	180634445	180634445	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:180634445T>C	ENST00000410066.1	-	3	641	c.38A>G	c.(37-39)aAg>aGg	p.K13R		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	13	Required for induction of apoptosis.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CTTTATCCCCTTTTCTTCAAA	0.423																																					Colon(155;204 2491 32774 51842)	uc002unn.3		NA																	0				ovary(1)	1						c.(37-39)AAG>AGG		zinc finger protein 385B isoform 1							68.0	71.0	70.0					2																	180634445		2203	4300	6503	SO:0001583	missense	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180634445T>C	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.38A>G	2.37:g.180634445T>C	ENSP00000386845:p.Lys13Arg						p.K13R	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		3	642	-			13					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	c.38A>G	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.757053	0.49468	.	.	ENSG00000144331	ENST00000410066;ENST00000451732;ENST00000438871	T	0.34072	1.38	5.7	3.35	0.38373	.	0.338880	0.24896	N	0.034728	T	0.24812	0.0602	L	0.27053	0.805	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04090	-1.0978	10	0.56958	D	0.05	0.1443	9.1648	0.37046	0.0:0.1465:0.0:0.8535	.	13	Q569K4	Z385B_HUMAN	R	13	ENSP00000386845:K13R	ENSP00000386845:K13R	K	-	2	0	ZNF385B	180342690	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	3.734000	0.55037	0.457000	0.26962	0.459000	0.35465	AAG		0.423	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		3	87	0	0	0	0	3	87				
SSFA2	6744	broad.mit.edu	37	2	182763789	182763789	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:182763789G>A	ENST00000431877.2	+	6	632	c.453G>A	c.(451-453)ggG>ggA	p.G151G	SSFA2_ENST00000409001.1_Silent_p.G151G|SSFA2_ENST00000428267.2_5'UTR|SSFA2_ENST00000320370.7_Silent_p.G151G	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	151						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ATCAGAAAGGGAGAAGTATGA	0.323																																						uc002uoi.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(451-453)GGG>GGA		sperm specific antigen 2 isoform 1							112.0	114.0	113.0					2																	182763789		2203	4300	6503	SO:0001819	synonymous_variant	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182763789G>A	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.453G>A	2.37:g.182763789G>A						SSFA2_uc002uoh.2_Silent_p.G151G|SSFA2_uc002uoj.2_Silent_p.G151G|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_5'UTR|SSFA2_uc002uol.2_5'UTR	p.G151G	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		6	775	+			151					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Silent	SNP	ENST00000431877.2	37	c.453G>A	CCDS46467.1																																																																																				0.323	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		5	27	0	0	0	0	5	27				
OSGEPL1	64172	broad.mit.edu	37	2	190626240	190626240	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:190626240C>G	ENST00000264151.5	-	2	229	c.127G>C	c.(127-129)Gaa>Caa	p.E43Q	OSGEPL1-AS1_ENST00000523895.1_RNA|OSGEPL1-AS1_ENST00000520651.1_RNA|RP11-455J20.3_ENST00000608680.1_RNA|OSGEPL1_ENST00000522700.1_Missense_Mutation_p.E43Q|OSGEPL1_ENST00000519810.1_Missense_Mutation_p.E43Q|OSGEPL1-AS1_ENST00000521819.1_RNA	NM_022353.2	NP_071748.2			O-sialoglycoprotein endopeptidase-like 1											large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			CAACTAGTTTCAATTCCCAAT	0.313																																						uc002uqz.1		NA																	0					0						c.(127-129)GAA>CAA		O-sialoglycoprotein endopeptidase-like 1							80.0	79.0	79.0					2																	190626240		1839	4091	5930	SO:0001583	missense	64172				proteolysis|tRNA processing		metalloendopeptidase activity	g.chr2:190626240C>G	AJ295148	CCDS46472.1	2q32	2011-08-12			ENSG00000128694	ENSG00000128694			23075	protein-coding gene	gene with protein product						19578062	Standard	NM_022353		Approved	Qri7	uc002uqz.1	Q9H4B0	OTTHUMG00000164096	ENST00000264151.5:c.127G>C	2.37:g.190626240C>G	ENSP00000264151:p.Glu43Gln					OSGEPL1_uc002ura.1_RNA|OSGEPL1_uc010zfy.1_Missense_Mutation_p.E43Q	p.E43Q	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)		2	661	-			43						Missense_Mutation	SNP	ENST00000264151.5	37	c.127G>C	CCDS46472.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749843	0.89753	.	.	ENSG00000128694	ENST00000264151;ENST00000519810;ENST00000522700;ENST00000517895;ENST00000521630	T;T;T	0.20332	2.08;2.08;2.08	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.55049	-0.8201	10	0.87932	D	0	-35.4223	19.2224	0.93803	0.0:1.0:0.0:0.0	.	43;43	B4DGY7;Q9H4B0	.;OSGP2_HUMAN	Q	43	ENSP00000264151:E43Q;ENSP00000428859:E43Q;ENSP00000429697:E43Q	ENSP00000264151:E43Q	E	-	1	0	OSGEPL1	190334485	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.329000	0.79170	2.765000	0.95021	0.655000	0.94253	GAA		0.313	OSGEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377257.1	NM_022353		10	78	0	0	0	0	10	78				
INPP1	3628	broad.mit.edu	37	2	191235867	191235867	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:191235867C>G	ENST00000322522.4	+	6	1395	c.939C>G	c.(937-939)ttC>ttG	p.F313L	INPP1_ENST00000392329.2_Missense_Mutation_p.F313L|INPP1_ENST00000541441.1_Missense_Mutation_p.F313L	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	313					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			ATACCACATTCAAATGGGACT	0.468																																					Melanoma(130;184 1743 2185 19805 38428)	uc002ury.3		NA																	0				ovary(1)|lung(1)	2						c.(937-939)TTC>TTG		inositol polyphosphate-1-phosphatase	Lithium(DB01356)						100.0	97.0	98.0					2																	191235867		2203	4300	6503	SO:0001583	missense	3628				signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding	g.chr2:191235867C>G		CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.939C>G	2.37:g.191235867C>G	ENSP00000325423:p.Phe313Leu					INPP1_uc010fsb.2_Missense_Mutation_p.F313L|INPP1_uc002urx.3_Missense_Mutation_p.F313L	p.F313L	NM_001128928	NP_001122400	P49441	INPP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		7	1639	+			313						Missense_Mutation	SNP	ENST00000322522.4	37	c.939C>G	CCDS2305.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980922	0.74474	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441	T;T;T	0.51071	0.72;0.72;0.72	5.15	4.26	0.50523	.	0.047643	0.85682	D	0.000000	T	0.46870	0.1415	L	0.54323	1.7	0.50039	D	0.999844	D	0.57571	0.98	P	0.49361	0.608	T	0.36504	-0.9745	10	0.39692	T	0.17	-20.5608	8.0664	0.30663	0.0:0.8236:0.0:0.1764	.	313	P49441	INPP_HUMAN	L	313	ENSP00000376142:F313L;ENSP00000325423:F313L;ENSP00000440650:F313L	ENSP00000325423:F313L	F	+	3	2	INPP1	190944112	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	1.761000	0.38440	2.694000	0.91930	0.449000	0.29647	TTC		0.468	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255932.2			15	55	0	0	0	0	15	55				
STAT4	6775	broad.mit.edu	37	2	191895766	191895766	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:191895766G>A	ENST00000392320.2	-	23	2466	c.2152C>T	c.(2152-2154)Ctt>Ttt	p.L718F	STAT4_ENST00000358470.4_Missense_Mutation_p.L718F|AC067945.4_ENST00000456176.1_RNA	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	718					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GACATGGGAAGAAGGTCTGAT	0.403																																						uc002usm.1		NA																	0				breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9						c.(2152-2154)CTT>TTT		signal transducer and activator of transcription							209.0	204.0	206.0					2																	191895766		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191895766G>A		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.2152C>T	2.37:g.191895766G>A	ENSP00000376134:p.Leu718Phe					STAT4_uc002usn.1_Missense_Mutation_p.L718F	p.L718F	NM_003151	NP_003142	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		23	2406	-			718					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.2152C>T	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048313	0.75846	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.89050	-2.46;-2.46	5.28	4.41	0.53225	.	0.539313	0.17756	N	0.163050	D	0.89504	0.6734	L	0.42245	1.32	0.80722	D	1	D	0.61697	0.99	P	0.56398	0.797	D	0.87795	0.2621	10	0.39692	T	0.17	-14.8365	12.0822	0.53677	0.079:0.0:0.921:0.0	.	718	Q14765	STAT4_HUMAN	F	718	ENSP00000351255:L718F;ENSP00000376134:L718F	ENSP00000351255:L718F	L	-	1	0	STAT4	191604011	1.000000	0.71417	0.928000	0.36995	0.966000	0.64601	4.387000	0.59626	1.461000	0.47929	0.655000	0.94253	CTT		0.403	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		35	146	0	0	0	0	35	146				
SATB2	23314	broad.mit.edu	37	2	200173562	200173562	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:200173562A>G	ENST00000417098.1	-	10	2477	c.1661T>C	c.(1660-1662)gTc>gCc	p.V554A	SATB2_ENST00000260926.5_Missense_Mutation_p.V554A|SATB2_ENST00000457245.1_Missense_Mutation_p.V554A|SATB2_ENST00000443023.1_Missense_Mutation_p.V495A|SATB2_ENST00000428695.1_Missense_Mutation_p.V436A	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	554					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTCATAGATGACATCCCTCTC	0.597																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NA																	0				ovary(1)	1						c.(1660-1662)GTC>GCC		SATB homeobox 2							177.0	141.0	153.0					2																	200173562		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200173562A>G	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1661T>C	2.37:g.200173562A>G	ENSP00000401112:p.Val554Ala					SATB2_uc010fsq.1_Missense_Mutation_p.V436A|SATB2_uc002uuz.1_Missense_Mutation_p.V554A|SATB2_uc002uva.1_Missense_Mutation_p.V554A	p.V554A	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			10	2478	-			554			CUT 2.		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1661T>C	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	A	4.269	0.049038	0.08243	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.39592	1.09;1.07;1.09;1.09;1.09	5.35	5.35	0.76521	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (1);	0.128382	0.53938	D	0.000058	T	0.13243	0.0321	N	0.00926	-1.1	0.40113	D	0.976514	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.23726	-1.0180	10	0.09084	T	0.74	-18.4232	8.1973	0.31405	0.8528:0.0:0.1472:0.0	.	436;554	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	A	554;495;554;436;554	ENSP00000401112:V554A;ENSP00000388764:V495A;ENSP00000260926:V554A;ENSP00000388581:V436A;ENSP00000405420:V554A	ENSP00000260926:V554A	V	-	2	0	SATB2	199881807	0.997000	0.39634	1.000000	0.80357	0.772000	0.43724	3.650000	0.54424	2.371000	0.80710	0.533000	0.62120	GTC		0.597	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		21	76	0	0	0	0	21	76				
BMPR2	659	broad.mit.edu	37	2	203395617	203395617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:203395617G>A	ENST00000374580.4	+	8	1607	c.1068G>A	c.(1066-1068)atG>atA	p.M356I	BMPR2_ENST00000374574.2_Missense_Mutation_p.M356I	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	356	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GACTGTCCATGAGGCTGACTG	0.418																																						uc002uzf.3		NA																	0				ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						c.(1066-1068)ATG>ATA		bone morphogenetic protein receptor type II							97.0	97.0	97.0					2																	203395617		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203395617G>A	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1068G>A	2.37:g.203395617G>A	ENSP00000363708:p.Met356Ile					BMPR2_uc010ftr.2_Missense_Mutation_p.M356I	p.M356I	NM_001204	NP_001195	Q13873	BMPR2_HUMAN			8	2216	+			356			Protein kinase.|Cytoplasmic (Potential).		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.1068G>A	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.720328	0.68959	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.93019	-3.15;-3.15	5.7	5.7	0.88788	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.036660	0.85682	D	0.000000	D	0.88388	0.6423	N	0.04203	-0.255	0.80722	D	1	P;B	0.39424	0.673;0.023	P;B	0.44359	0.447;0.126	D	0.89975	0.4096	10	0.54805	T	0.06	.	18.0144	0.89235	0.0:0.0:1.0:0.0	.	356;356	Q13161;Q13873	.;BMPR2_HUMAN	I	356	ENSP00000363708:M356I;ENSP00000363702:M356I	ENSP00000363702:M356I	M	+	3	0	BMPR2	203103862	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.803000	0.99136	2.692000	0.91855	0.591000	0.81541	ATG		0.418	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		9	23	0	0	0	0	9	23				
GPR1	2825	broad.mit.edu	37	2	207041250	207041250	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:207041250G>C	ENST00000407325.2	-	3	1084	c.722C>G	c.(721-723)tCc>tGc	p.S241C	GPR1_ENST00000437420.1_Missense_Mutation_p.S241C	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	241					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		ATGCCTACTGGAGATCAGGAT	0.443																																						uc002vbl.3		NA																	0					0						c.(721-723)TCC>TGC		G protein-coupled receptor 1							96.0	99.0	98.0					2																	207041250		2203	4300	6503	SO:0001583	missense	2825					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:207041250G>C		CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.722C>G	2.37:g.207041250G>C	ENSP00000384345:p.Ser241Cys					GPR1_uc010fue.2_Missense_Mutation_p.S241C|GPR1_uc010fuf.2_Missense_Mutation_p.S241C	p.S241C	NM_005279	NP_005270	P46091	GPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)	3	1108	-		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)	241			Cytoplasmic (Potential).		A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	ENST00000407325.2	37	c.722C>G	CCDS2368.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638688	0.47153	.	.	ENSG00000183671	ENST00000407325;ENST00000437420	T;T	0.72942	-0.7;-0.7	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.164433	0.42821	D	0.000646	D	0.88066	0.6337	M	0.91510	3.215	0.49687	D	0.999812	D	0.89917	1.0	D	0.74348	0.983	D	0.89996	0.4111	10	0.87932	D	0	.	19.8379	0.96666	0.0:0.0:1.0:0.0	.	241	P46091	GPR1_HUMAN	C	241	ENSP00000384345:S241C;ENSP00000397535:S241C	ENSP00000384345:S241C	S	-	2	0	GPR1	206749495	1.000000	0.71417	0.968000	0.41197	0.089000	0.18198	2.029000	0.41098	2.696000	0.92011	0.655000	0.94253	TCC		0.443	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		7	38	0	0	0	0	7	38				
CXCR2	3579	broad.mit.edu	37	2	219000410	219000410	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:219000410C>T	ENST00000318507.2	+	3	1313	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	296					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CGACCGGGCTCTGGATGCCAC	0.587																																						uc002vgz.1		NA																	0				lung(1)|breast(1)	2						c.(886-888)CTG>TTG		interleukin 8 receptor beta							81.0	77.0	78.0					2																	219000410		2203	4300	6503	SO:0001819	synonymous_variant	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:219000410C>T	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.886C>T	2.37:g.219000410C>T						CXCR2_uc002vha.1_Silent_p.L296L|CXCR2_uc002vhb.1_Silent_p.L296L	p.L296L	NM_001557	NP_001548	P25025	CXCR2_HUMAN			4	1111	+			296			Helical; Name=7; (Potential).		Q8IUZ1|Q9P2T6|Q9P2T7	Silent	SNP	ENST00000318507.2	37	c.886C>T	CCDS2408.1																																																																																				0.587	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		34	74	0	0	0	0	34	74				
PRKAG3	53632	broad.mit.edu	37	2	219695504	219695504	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:219695504G>A	ENST00000529249.1	-	3	509	c.194C>T	c.(193-195)tCg>tTg	p.S65L	PRKAG3_ENST00000439262.2_Missense_Mutation_p.S40L|PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000392098.3_Missense_Mutation_p.S65L			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	65					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	TTCCTCCACCGACTTCTGCCT	0.607																																						uc002vjb.1		NA																	0				ovary(1)|lung(1)	2						c.(193-195)TCG>TTG		AMP-activated protein kinase, non-catalytic							168.0	138.0	148.0					2																	219695504		2203	4300	6503	SO:0001583	missense	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219695504G>A	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.194C>T	2.37:g.219695504G>A	ENSP00000436068:p.Ser65Leu					PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Missense_Mutation_p.S65L|PRKAG3_uc010zko.1_Missense_Mutation_p.S65L	p.S65L	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	213	-		Renal(207;0.0474)	65					Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	c.194C>T	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	G	6.471	0.455140	0.12283	.	.	ENSG00000115592	ENST00000439262;ENST00000529249;ENST00000392098;ENST00000430489	D;D;T;T	0.82255	-1.58;-1.59;0.21;0.88	4.78	-0.395	0.12431	.	0.654634	0.14121	N	0.340077	T	0.62319	0.2418	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.50083	-0.8869	10	0.51188	T	0.08	0.0151	5.3842	0.16208	0.3392:0.0:0.5221:0.1387	.	65;40;65	B4DUK8;Q9UGI9-2;Q9UGI9	.;.;AAKG3_HUMAN	L	40;65;65;65	ENSP00000397133:S40L;ENSP00000436068:S65L;ENSP00000375947:S65L;ENSP00000416100:S65L	ENSP00000233944:S65L	S	-	2	0	PRKAG3	219403748	0.126000	0.22350	0.085000	0.20634	0.026000	0.11368	0.240000	0.18042	-0.426000	0.07360	-0.797000	0.03246	TCG		0.607	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			28	61	0	0	0	0	28	61				
ANKZF1	55139	broad.mit.edu	37	2	220099962	220099962	+	Missense_Mutation	SNP	A	A	T	rs574591851		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:220099962A>T	ENST00000323348.5	+	10	1793	c.1619A>T	c.(1618-1620)cAt>cTt	p.H540L	ANKZF1_ENST00000410034.3_Missense_Mutation_p.H540L|GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Missense_Mutation_p.H330L	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	540						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTCTCCTGCATGCAGCAGCT	0.587																																						uc002vkg.2		NA																	0				ovary(2)	2						c.(1618-1620)CAT>CTT		ankyrin repeat and zinc finger domain containing							55.0	58.0	57.0					2																	220099962		1986	4172	6158	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220099962A>T	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1619A>T	2.37:g.220099962A>T	ENSP00000321617:p.His540Leu					ANKZF1_uc010zkv.1_3'UTR|ANKZF1_uc010zkw.1_3'UTR|ANKZF1_uc002vkh.2_Missense_Mutation_p.H330L|ANKZF1_uc002vki.2_Missense_Mutation_p.H540L|ANKZF1_uc002vkj.1_3'UTR	p.H540L	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1793	+		Renal(207;0.0474)	540			ANK 2.		Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.1619A>T	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.264864	0.80358	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.79141	-1.24;-1.24;-1.24	5.26	5.26	0.73747	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.87350	0.6155	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88812	0.3292	10	0.87932	D	0	-17.4549	13.0569	0.58986	1.0:0.0:0.0:0.0	.	540	Q9H8Y5	ANKZ1_HUMAN	L	540;330;540	ENSP00000321617:H540L;ENSP00000386815:H330L;ENSP00000386337:H540L	ENSP00000321617:H540L	H	+	2	0	ANKZF1	219808206	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.719000	0.84751	2.218000	0.71995	0.533000	0.62120	CAT		0.587	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		28	60	0	0	0	0	28	60				
ANKZF1	55139	broad.mit.edu	37	2	220101166	220101166	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:220101166G>A	ENST00000323348.5	+	14	2354	c.2180G>A	c.(2179-2181)tGa>tAa	p.*727*	ANKZF1_ENST00000410034.3_Silent_p.*727*|GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Silent_p.*517*	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	0						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTCTTCCTGATCTCTTACA	0.557																																						uc002vkg.2		NA																	0				ovary(2)	2						c.(2179-2181)TGA>TAA		ankyrin repeat and zinc finger domain containing							70.0	69.0	70.0					2																	220101166		1951	4140	6091	SO:0001819	synonymous_variant	55139					intracellular	zinc ion binding	g.chr2:220101166G>A	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.2180G>A	2.37:g.220101166G>A						ANKZF1_uc002vkh.2_Silent_p.*517*|ANKZF1_uc002vki.2_Silent_p.*727*	p.*727*	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	2354	+		Renal(207;0.0474)	727					Q9NVZ4	Silent	SNP	ENST00000323348.5	37	c.2180G>A	CCDS42821.1																																																																																				0.557	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		12	38	0	0	0	0	12	38				
TMEM198	130612	broad.mit.edu	37	2	220412742	220412742	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:220412742C>T	ENST00000344458.2	+	4	1266	c.681C>T	c.(679-681)ctC>ctT	p.L227L	TMEM198_ENST00000373883.3_Silent_p.L227L|RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	227	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCCCCTGCTCAGCCTGATGG	0.667																																						uc002vme.2		NA																	0				ovary(1)	1						c.(679-681)CTC>CTT		transmembrane protein 198																																				SO:0001819	synonymous_variant	130612					integral to membrane		g.chr2:220412742C>T	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.681C>T	2.37:g.220412742C>T						TMEM198_uc002vmf.2_Silent_p.L227L	p.L227L	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	1266	+		Renal(207;0.0376)	227			Leu-rich.|Helical; (Potential).			Silent	SNP	ENST00000344458.2	37	c.681C>T	CCDS33385.1																																																																																				0.667	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		3	12	0	0	0	0	3	12				
MOGAT1	116255	broad.mit.edu	37	2	223559247	223559247	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:223559247G>C	ENST00000446656.3	+	4	645	c.645G>C	c.(643-645)ttG>ttC	p.L215F		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	215					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		AAATTGCTTTGACCCATGGGT	0.413																																					Ovarian(93;205 1446 2385 11581 25911)	uc010fws.1		NA																	0				breast(1)	1						c.(643-645)TTG>TTC		monoacylglycerol O-acyltransferase 1							70.0	67.0	68.0					2																	223559247		1852	4099	5951	SO:0001583	missense	116255				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr2:223559247G>C	AF384163	CCDS46524.1	2q36.2	2006-10-06	2004-05-28	2004-05-28	ENSG00000124003	ENSG00000124003			18210	protein-coding gene	gene with protein product		610268	"""diacylglycerol O-acyltransferase 2 like 1"""	DGAT2L1		14970677	Standard	NM_058165		Approved	DGAT2L, MGAT1	uc010fws.1	Q96PD6	OTTHUMG00000153394	ENST00000446656.3:c.645G>C	2.37:g.223559247G>C	ENSP00000406674:p.Leu215Phe					MOGAT1_uc010fwt.1_Missense_Mutation_p.L175F	p.L215F	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)	4	693	+		Renal(207;0.0183)	215					Q6IEE5	Missense_Mutation	SNP	ENST00000446656.3	37	c.645G>C	CCDS46524.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611085	0.46631	.	.	ENSG00000124003	ENST00000446656	T	0.21543	2.0	5.32	4.44	0.53790	.	0.192843	0.36854	N	0.002364	T	0.40423	0.1116	M	0.83603	2.65	0.45690	D	0.998606	P	0.45768	0.866	P	0.53988	0.739	T	0.36187	-0.9758	10	0.62326	D	0.03	-18.4589	10.0092	0.41975	0.0729:0.1374:0.7897:0.0	.	215	Q96PD6	MOGT1_HUMAN	F	215	ENSP00000406674:L215F	ENSP00000406674:L215F	L	+	3	2	MOGAT1	223267491	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.460000	0.45031	1.460000	0.47911	0.643000	0.83706	TTG		0.413	MOGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331010.3	NM_058165		10	23	0	0	0	0	10	23				
SLC16A14	151473	broad.mit.edu	37	2	230902183	230902183	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:230902183C>G	ENST00000295190.4	-	5	1904	c.1446G>C	c.(1444-1446)atG>atC	p.M482I		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	482						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GTATTCCTATCATGTAAAGCA	0.328																																						uc002vqd.1		NA																	0				ovary(4)|skin(2)	6						c.(1444-1446)ATG>ATC		solute carrier family 16 (monocarboxylic acid							116.0	113.0	114.0					2																	230902183		2203	4300	6503	SO:0001583	missense	151473					integral to membrane|plasma membrane	symporter activity	g.chr2:230902183C>G	BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1446G>C	2.37:g.230902183C>G	ENSP00000295190:p.Met482Ile					FBXO36_uc010fxi.1_Intron	p.M482I	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)	5	1809	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)	482			Helical; (Potential).		A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	37	c.1446G>C	CCDS2473.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104142	0.56291	.	.	ENSG00000163053	ENST00000295190	T	0.79033	-1.23	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.155772	0.45867	D	0.000323	T	0.54415	0.1857	N	0.02213	-0.635	0.49915	D	0.999836	B	0.12013	0.005	B	0.17979	0.02	T	0.57177	-0.7856	10	0.05721	T	0.95	.	19.3596	0.94431	0.0:1.0:0.0:0.0	.	482	Q7RTX9	MOT14_HUMAN	I	482	ENSP00000295190:M482I	ENSP00000295190:M482I	M	-	3	0	SLC16A14	230610427	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.862000	0.39448	2.818000	0.97014	0.655000	0.94253	ATG		0.328	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		6	31	0	0	0	0	6	31				
C2orf57	165100	broad.mit.edu	37	2	232458485	232458485	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:232458485T>C	ENST00000313965.2	+	1	911	c.823T>C	c.(823-825)Tcc>Ccc	p.S275P		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	275										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CTACATGCGCTCCATGACCAG	0.662																																						uc002vrz.2		NA																	0				ovary(1)	1						c.(823-825)TCC>CCC		hypothetical protein LOC165100							68.0	71.0	70.0					2																	232458485		2203	4300	6503	SO:0001583	missense	165100							g.chr2:232458485T>C	BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.823T>C	2.37:g.232458485T>C	ENSP00000315557:p.Ser275Pro						p.S275P	NM_152614	NP_689827	Q53QW1	CB057_HUMAN		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)	1	874	+		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)	275					Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	c.823T>C	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765207	0.69878	.	.	ENSG00000177673	ENST00000313965	T	0.37058	1.22	4.96	4.96	0.65561	.	0.000000	0.33438	N	0.004901	T	0.47060	0.1425	L	0.32530	0.975	0.31742	N	0.635712	D	0.89917	1.0	D	0.97110	1.0	T	0.55679	-0.8103	10	0.87932	D	0	.	10.9565	0.47360	0.0:0.0:0.0:1.0	.	275	Q53QW1	CB057_HUMAN	P	275	ENSP00000315557:S275P	ENSP00000315557:S275P	S	+	1	0	C2orf57	232166729	0.980000	0.34600	1.000000	0.80357	0.599000	0.36880	3.339000	0.52135	2.088000	0.63022	0.460000	0.39030	TCC		0.662	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		3	88	0	0	0	0	3	88				
DIS3L2	129563	broad.mit.edu	37	2	233001212	233001212	+	Missense_Mutation	SNP	C	C	G	rs199648534		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:233001212C>G	ENST00000409307.1	+	7	733	c.733C>G	c.(733-735)Cga>Gga	p.R245G	DIS3L2_ENST00000273009.6_Missense_Mutation_p.R245G|DIS3L2_ENST00000360410.4_Silent_p.L264L|DIS3L2_ENST00000325385.7_Missense_Mutation_p.R245G					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AAAACATTCTCGAGCAGCAAC	0.433																																						uc010fxz.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(733-735)CGA>GGA		DIS3 mitotic control homolog (S.							150.0	139.0	142.0					2																	233001212		1849	4095	5944	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233001212C>G	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.733C>G	2.37:g.233001212C>G	ENSP00000386799:p.Arg245Gly					DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	p.R245G	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	8	1009	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	245						Missense_Mutation	SNP	ENST00000409307.1	37	c.733C>G	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692485	0.68271	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307	T;T;T	0.30714	1.52;1.66;1.66	6.07	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.61974	0.2390	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.68462	-0.5402	10	0.87932	D	0	-10.6669	14.0794	0.64912	0.3695:0.6305:0.0:0.0	.	245	Q8IYB7	DI3L2_HUMAN	G	245	ENSP00000273009:R245G;ENSP00000315569:R245G;ENSP00000386799:R245G	ENSP00000273009:R245G	R	+	1	2	DIS3L2	232709456	0.720000	0.27996	1.000000	0.80357	0.995000	0.86356	1.345000	0.33953	2.890000	0.99128	0.585000	0.79938	CGA		0.433	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		21	85	0	0	0	0	21	85				
ALPI	248	broad.mit.edu	37	2	233321905	233321905	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:233321905C>T	ENST00000295463.3	+	5	598	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	174					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CAGCACGCCTCGCCAGCCGGC	0.627																																						uc002vst.3		NA																	0				central_nervous_system(1)	1						c.(520-522)TCG>TTG		intestinal alkaline phosphatase precursor							64.0	64.0	64.0					2																	233321905		2203	4300	6503	SO:0001583	missense	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233321905C>T	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.521C>T	2.37:g.233321905C>T	ENSP00000295463:p.Ser174Leu					ALPI_uc002vsu.3_Missense_Mutation_p.S85L	p.S174L	NM_001631	NP_001622	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	5	598	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	174					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	c.521C>T	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862492	0.71949	.	.	ENSG00000163295	ENST00000295463	D	0.96685	-4.09	5.5	5.5	0.81552	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98871	0.9618	H	0.96996	3.92	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	D	0.99429	1.0935	10	0.87932	D	0	.	18.7561	0.91833	0.0:1.0:0.0:0.0	.	174	P09923	PPBI_HUMAN	L	174	ENSP00000295463:S174L	ENSP00000295463:S174L	S	+	2	0	ALPI	233030149	0.996000	0.38824	0.777000	0.31699	0.060000	0.15804	7.441000	0.80485	2.757000	0.94681	0.561000	0.74099	TCG		0.627	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		16	50	0	0	0	0	16	50				
INPP5D	3635	broad.mit.edu	37	2	234091127	234091127	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:234091127C>A	ENST00000359570.5	+	21	2107	c.2107C>A	c.(2107-2109)Cag>Aag	p.Q703K	INPP5D_ENST00000450745.1_Missense_Mutation_p.Q467K|INPP5D_ENST00000538935.1_3'UTR|INPP5D_ENST00000455936.2_Missense_Mutation_p.Q467K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	715					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGTCACTTCCCAGTTTGTCTC	0.507																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2143-2145)CAG>AAG		SH2 containing inositol phosphatase isoform a							162.0	159.0	160.0					2																	234091127		2064	4198	6262	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234091127C>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2107C>A	2.37:g.234091127C>A	ENSP00000352575:p.Gln703Lys					INPP5D_uc010zmp.1_Missense_Mutation_p.Q714K	p.Q715K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	18	2296	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	715					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.2143C>A		.	.	.	.	.	.	.	.	.	.	C	26.6	4.748636	0.89753	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.96967	-4.16;-4.19;-4.19;-4.17;-4.17;-4.17	5.47	5.47	0.80525	Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.98223	0.9412	.	.	.	0.53005	D	0.999969	D;D	0.76494	0.999;0.995	D;P	0.80764	0.994;0.742	D	0.98834	1.0752	9	0.66056	D	0.02	.	19.3222	0.94246	0.0:1.0:0.0:0.0	.	714;715	Q92835-2;Q92835	.;SHIP1_HUMAN	K	703;467;467;336;336;336	ENSP00000352575:Q703K;ENSP00000407916:Q467K;ENSP00000404610:Q467K;ENSP00000400151:Q336K;ENSP00000397421:Q336K;ENSP00000405338:Q336K	ENSP00000352575:Q703K	Q	+	1	0	INPP5D	233755866	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.309000	0.78937	2.576000	0.86940	0.591000	0.81541	CAG		0.507	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		18	65	1	0	1.34e-09	1.43e-09	18	65				
TBC1D20	128637	broad.mit.edu	37	20	428599	428599	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:428599C>A	ENST00000354200.4	-	2	337	c.190G>T	c.(190-192)Gag>Tag	p.E64*	Y_RNA_ENST00000384070.1_RNA	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	64	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				CGTCTGATCTCATCAGTCAGG	0.532																																						uc002wds.2		NA																	0				central_nervous_system(1)	1						c.(190-192)GAG>TAG		TBC1 domain family, member 20							151.0	116.0	128.0					20																	428599		2203	4300	6503	SO:0001587	stop_gained	128637				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity	g.chr20:428599C>A	AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.190G>T	20.37:g.428599C>A	ENSP00000346139:p.Glu64*					TBC1D20_uc002wdv.2_5'UTR|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA	p.E64*	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN			2	328	-		all_epithelial(17;0.228)|Breast(17;0.231)	64			Rab-GAP TBC.		A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Nonsense_Mutation	SNP	ENST00000354200.4	37	c.190G>T	CCDS13002.1	.	.	.	.	.	.	.	.	.	.	C	36	5.936377	0.97122	.	.	ENSG00000125875	ENST00000354200;ENST00000246077	.	.	.	5.24	5.24	0.73138	.	0.155567	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-16.6243	13.7092	0.62659	0.0:0.8459:0.1541:0.0	.	.	.	.	X	64;89	.	ENSP00000246077:E89X	E	-	1	0	TBC1D20	376599	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	5.491000	0.66887	2.726000	0.93360	0.650000	0.86243	GAG		0.532	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251397.2	NM_144628		13	47	1	0	6.32e-08	6.72e-08	13	47				
TMC2	117532	broad.mit.edu	37	20	2560666	2560666	+	Silent	SNP	T	T	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:2560666T>A	ENST00000358864.1	+	7	813	c.798T>A	c.(796-798)ctT>ctA	p.L266L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	266					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACCTTGTCCTTTTTGGCTTAA	0.393																																						uc002wgf.1		NA																	0				ovary(3)	3						c.(796-798)CTT>CTA		transmembrane cochlear-expressed protein 2							208.0	187.0	195.0					20																	2560666		2203	4300	6503	SO:0001819	synonymous_variant	117532					integral to membrane		g.chr20:2560666T>A	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.798T>A	20.37:g.2560666T>A						TMC2_uc002wgg.1_Silent_p.L250L|TMC2_uc010zpw.1_Silent_p.L98L|TMC2_uc010zpx.1_Silent_p.L97L	p.L266L	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			7	813	+			266			Helical; (Potential).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	c.798T>A	CCDS13029.2																																																																																				0.393	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			6	82	0	0	0	0	6	82				
C20orf194	25943	broad.mit.edu	37	20	3299010	3299010	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:3299010C>A	ENST00000252032.9	-	17	1461	c.1394G>T	c.(1393-1395)gGa>gTa	p.G465V	C20orf194_ENST00000498079.1_5'Flank|C20orf194_ENST00000453730.2_Missense_Mutation_p.G203V	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	465										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ACCATTGCCTCCCAGTAAGTC	0.388																																						uc002wii.2		NA																	0					0						c.(1393-1395)GGA>GTA		hypothetical protein LOC25943							89.0	89.0	89.0					20																	3299010		1874	4105	5979	SO:0001583	missense	25943							g.chr20:3299010C>A	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1394G>T	20.37:g.3299010C>A	ENSP00000252032:p.Gly465Val					C20orf194_uc002wij.3_Missense_Mutation_p.G204V|C20orf194_uc002wik.2_Missense_Mutation_p.G139V	p.G465V	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN			17	1445	-			465					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.1394G>T	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107110	0.56291	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	T;T	0.46819	0.86;0.86	5.77	5.77	0.91146	.	0.338596	0.31963	N	0.006795	T	0.49064	0.1535	L	0.54323	1.7	0.58432	D	0.999997	P;P	0.49358	0.923;0.617	P;B	0.47891	0.56;0.242	T	0.38499	-0.9658	10	0.30854	T	0.27	.	12.1445	0.54016	0.0:0.9211:0.0:0.0789	.	204;465	Q0IIP3;Q5TEA3	.;CT194_HUMAN	V	465;203	ENSP00000252032:G465V;ENSP00000407229:G203V	ENSP00000252032:G465V	G	-	2	0	C20orf194	3247010	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.342000	0.52159	2.726000	0.93360	0.650000	0.86243	GGA		0.388	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		25	61	1	0	3.73e-12	4.02e-12	25	61				
PRND	23627	broad.mit.edu	37	20	4705248	4705248	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:4705248C>G	ENST00000305817.2	+	2	122	c.51C>G	c.(49-51)ctC>ctG	p.L17L		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	17					protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GCATGCTGCTCTTCAGCCACC	0.632																																						uc002wkz.2		NA																	0					0						c.(49-51)CTC>CTG		prion-like protein doppel preproprotein							62.0	57.0	58.0					20																	4705248		2203	4300	6503	SO:0001819	synonymous_variant	23627				protein homooligomerization	anchored to membrane|plasma membrane		g.chr20:4705248C>G	AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"""prion-like protein doppel"""	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.51C>G	20.37:g.4705248C>G							p.L17L	NM_012409	NP_036541	Q9UKY0	PRND_HUMAN			2	122	+			17					A7U7M5|Q9H311|Q9H312|Q9NTM4	Silent	SNP	ENST00000305817.2	37	c.51C>G	CCDS13081.1																																																																																				0.632	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077827.2	NM_012409		23	64	0	0	0	0	23	64				
DTD1	92675	broad.mit.edu	37	20	18724748	18724748	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:18724748C>G	ENST00000377452.3	+	5	662	c.482C>G	c.(481-483)tCa>tGa	p.S161*		NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	161					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			large_intestine(4)|lung(1)|ovary(2)	7						aatCAGCTGTCAAAGCTCGAA	0.413																																						uc002wrf.3		NA																	0				ovary(2)	2						c.(481-483)TCA>TGA		D-tyrosyl-tRNA deacylase 1							30.0	29.0	29.0					20																	18724748		2197	4295	6492	SO:0001587	stop_gained	92675				D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds	g.chr20:18724748C>G	AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"""chromosome 20 open reading frame 88"", ""D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"""	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.482C>G	20.37:g.18724748C>G	ENSP00000366672:p.Ser161*						p.S161*	NM_080820	NP_543010	Q8TEA8	DTD1_HUMAN			5	643	+			161					A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Nonsense_Mutation	SNP	ENST00000377452.3	37	c.482C>G	CCDS13138.1	.	.	.	.	.	.	.	.	.	.	C	37	6.098893	0.97281	.	.	ENSG00000125821	ENST00000377452	.	.	.	5.56	5.56	0.83823	.	0.351126	0.30695	N	0.009066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-6.9402	17.0144	0.86414	0.0:1.0:0.0:0.0	.	.	.	.	X	161	.	ENSP00000366672:S161X	S	+	2	0	DTD1	18672748	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.122000	0.77169	2.619000	0.88677	0.462000	0.41574	TCA		0.413	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078189.3	NM_080820		5	8	0	0	0	0	5	8				
MYH7B	57644	broad.mit.edu	37	20	33567491	33567491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:33567491C>T	ENST00000262873.7	+	5	444	c.352C>T	c.(352-354)Cag>Tag	p.Q118*		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	76	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCCGAGCTGCAGCCCATGAA	0.647																																						uc010gfa.1		NA																	0				ovary(1)|breast(1)	2						c.(226-228)CAG>TAG		RecName: Full=Myosin-7B; AltName: Full=Myosin heavy chain 7B, cardiac muscle beta isoform; AltName: Full=Myosin cardiac muscle beta chain; AltName: Full=Antigen MLAA-21; AltName: Full=Slow A MYH14;							66.0	70.0	68.0					20																	33567491		2172	4277	6449	SO:0001587	stop_gained	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33567491C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.352C>T	20.37:g.33567491C>T	ENSP00000262873:p.Gln118*					MYH7B_uc002xbi.1_Nonsense_Mutation_p.Q118*	p.Q76*			A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		4	347	+			76					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Nonsense_Mutation	SNP	ENST00000262873.7	37	c.226C>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028435	0.75390	.	.	ENSG00000078814	ENST00000262873	.	.	.	4.41	4.41	0.53225	.	0.000000	0.35870	N	0.002932	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	11.1016	0.48177	0.0:0.9146:0.0:0.0854	.	.	.	.	X	118	.	ENSP00000262873:Q118X	Q	+	1	0	MYH7B	33031152	1.000000	0.71417	0.996000	0.52242	0.386000	0.30323	4.624000	0.61254	2.440000	0.82611	0.561000	0.74099	CAG		0.647	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		25	87	0	0	0	0	25	87				
CEP250	11190	broad.mit.edu	37	20	34054793	34054793	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:34054793C>T	ENST00000397527.1	+	8	1215	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CEP250_ENST00000397524.1_Silent_p.F165F|CEP250_ENST00000342580.4_Silent_p.F165F	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	165					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ACACACAGTTCTTCAAGGGCT	0.522																																						uc002xcm.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(493-495)TTC>TTT		centrosomal protein 2							79.0	71.0	74.0					20																	34054793		2203	4300	6503	SO:0001819	synonymous_variant	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34054793C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.495C>T	20.37:g.34054793C>T						CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_5'UTR	p.F165F	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		9	1166	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		165					E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	c.495C>T	CCDS13255.1																																																																																				0.522	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		18	42	0	0	0	0	18	42				
CEP250	11190	broad.mit.edu	37	20	34054830	34054830	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:34054830C>T	ENST00000397527.1	+	8	1252	c.532C>T	c.(532-534)Ctc>Ttc	p.L178F	CEP250_ENST00000397524.1_Missense_Mutation_p.L178F|CEP250_ENST00000342580.4_Missense_Mutation_p.L178F	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	178					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CGGTCGCCTTCTCAGTCTATG	0.532																																						uc002xcm.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(532-534)CTC>TTC		centrosomal protein 2							91.0	82.0	85.0					20																	34054830		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34054830C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.532C>T	20.37:g.34054830C>T	ENSP00000380661:p.Leu178Phe					CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_5'UTR	p.L178F	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		9	1203	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		178					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.532C>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832485	0.71258	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	T;T;T;T	0.58506	2.13;2.2;0.33;1.23	6.07	6.07	0.98685	.	2.778640	0.00848	N	0.001813	T	0.80849	0.4702	M	0.79258	2.445	0.43149	D	0.994916	D	0.89917	1.0	D	0.81914	0.995	T	0.61797	-0.6989	10	0.62326	D	0.03	.	14.1914	0.65641	0.1493:0.8507:0.0:0.0	.	178	Q9BV73	CP250_HUMAN	F	178	ENSP00000380661:L178F;ENSP00000341541:L178F;ENSP00000380658:L178F;ENSP00000413827:L178F	ENSP00000341541:L178F	L	+	1	0	CEP250	33518244	1.000000	0.71417	0.996000	0.52242	0.906000	0.53458	1.787000	0.38704	2.885000	0.99019	0.650000	0.86243	CTC		0.532	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		17	45	0	0	0	0	17	45				
CEP250	11190	broad.mit.edu	37	20	34054880	34054880	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:34054880G>C	ENST00000397527.1	+	8	1302	c.582G>C	c.(580-582)atG>atC	p.M194I	CEP250_ENST00000397524.1_Missense_Mutation_p.M194I|CEP250_ENST00000342580.4_Missense_Mutation_p.M194I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	194					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCCTGGAAATGAAGTCAGCTA	0.527																																						uc002xcm.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(580-582)ATG>ATC		centrosomal protein 2							71.0	63.0	66.0					20																	34054880		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34054880G>C	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.582G>C	20.37:g.34054880G>C	ENSP00000380661:p.Met194Ile					CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_Missense_Mutation_p.M1I	p.M194I	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		9	1253	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		194					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.582G>C	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231833	0.79688	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	T;T;T;T	0.50813	2.56;2.64;0.73;1.68	6.07	6.07	0.98685	.	2.195720	0.01734	N	0.029005	T	0.74884	0.3775	M	0.69823	2.125	0.50171	D	0.99985	D;D	0.67145	0.962;0.996	D;D	0.73708	0.946;0.981	T	0.55328	-0.8158	10	0.49607	T	0.09	.	18.4334	0.90634	0.0:0.0:1.0:0.0	.	194;194	A6PVI9;Q9BV73	.;CP250_HUMAN	I	194	ENSP00000380661:M194I;ENSP00000341541:M194I;ENSP00000380658:M194I;ENSP00000413827:M194I	ENSP00000341541:M194I	M	+	3	0	CEP250	33518294	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.533000	0.81994	2.885000	0.99019	0.650000	0.86243	ATG		0.527	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		16	45	0	0	0	0	16	45				
SPAG4	6676	broad.mit.edu	37	20	34206846	34206846	+	Splice_Site	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:34206846G>C	ENST00000374273.3	+	8	831	c.719G>C	c.(718-720)aGa>aCa	p.R240T		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	240					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TCCTTGCAGAGAGTGGCCAAG	0.592																																						uc002xdb.1		NA																	0					0						c.(718-720)AGA>ACA		sperm associated antigen 4							89.0	85.0	86.0					20																	34206846		2203	4300	6503	SO:0001630	splice_region_variant	6676				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	g.chr20:34206846G>C	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.718-1G>C	20.37:g.34206846G>C						SPAG4_uc010zvi.1_Missense_Mutation_p.R163T	p.R240T	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		8	836	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		240			Potential.		O43648	Missense_Mutation	SNP	ENST00000374273.3	37	c.719G>C	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874509	0.72180	.	.	ENSG00000061656	ENST00000374273;ENST00000454819	T;T	0.23552	2.21;1.9	4.67	3.69	0.42338	.	0.215920	0.41396	N	0.000896	T	0.45875	0.1364	M	0.73598	2.24	0.34097	D	0.66138	D;D	0.67145	0.993;0.996	P;D	0.65140	0.787;0.932	T	0.62011	-0.6944	10	0.54805	T	0.06	-16.4017	10.7088	0.45971	0.0:0.1935:0.8065:0.0	.	115;240	C9JJZ6;Q9NPE6	.;SPAG4_HUMAN	T	240;115	ENSP00000363391:R240T;ENSP00000396670:R115T	ENSP00000363391:R240T	R	+	2	0	SPAG4	33670260	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	1.893000	0.39758	1.286000	0.44565	0.462000	0.41574	AGA		0.592	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116	Missense_Mutation	14	57	0	0	0	0	14	57				
DLGAP4	22839	broad.mit.edu	37	20	35155390	35155390	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:35155390G>C	ENST00000373907.2	+	12	3134	c.2935G>C	c.(2935-2937)Gac>Cac	p.D979H	DLGAP4_ENST00000401952.2_Missense_Mutation_p.D976H|RP5-977B1.7_ENST00000433238.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000340491.4_Missense_Mutation_p.D440H|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000339266.5_Missense_Mutation_p.D979H|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000373913.3_Missense_Mutation_p.D976H			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	979					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGAGAGCGCAGACAGCATCGA	0.557																																						uc002xff.2		NA																	0				skin(2)|ovary(1)	3						c.(2926-2928)GAC>CAC		disks large-associated protein 4 isoform a							37.0	41.0	40.0					20																	35155390		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35155390G>C	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2935G>C	20.37:g.35155390G>C	ENSP00000363014:p.Asp979His					DLGAP4_uc010zvp.1_Missense_Mutation_p.D976H|DLGAP4_uc002xfg.2_Missense_Mutation_p.D272H|DLGAP4_uc002xfh.2_Missense_Mutation_p.D440H|DLGAP4_uc002xfi.2_3'UTR|DLGAP4_uc002xfj.2_Missense_Mutation_p.D272H|uc002xfk.3_Intron	p.D976H	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			13	3361	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	979					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.2926G>C		.	.	.	.	.	.	.	.	.	.	G	24.5	4.535364	0.85812	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.54951	0.1890	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	T	0.60816	-0.7188	10	0.87932	D	0	.	18.9602	0.92674	0.0:0.0:1.0:0.0	.	440;979;976	Q9Y2H0-3;Q9Y2H0;Q9Y2H0-1	.;DLGP4_HUMAN;.	H	976;976;979;979;440	ENSP00000363023:D976H;ENSP00000384954:D976H;ENSP00000363014:D979H;ENSP00000341633:D979H;ENSP00000345700:D440H	ENSP00000341633:D979H	D	+	1	0	DLGAP4	34588804	1.000000	0.71417	0.965000	0.40720	0.930000	0.56654	9.808000	0.99193	2.724000	0.93272	0.462000	0.41574	GAC		0.557	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		10	50	0	0	0	0	10	50				
SDC4	6385	broad.mit.edu	37	20	43964468	43964468	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:43964468G>A	ENST00000372733.3	-	2	192	c.153C>T	c.(151-153)ccC>ccT	p.P51P	SDC4_ENST00000537976.1_Intron	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	51					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)	p.P51P(1)	SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				ATTCCTGCCCGGGCCCCACTA	0.582			T	ROS1	NSCLC																																	uc002xnu.2		NA		Dom	yes		20	20q12	6385		syndecan 4			E					1	Substitution - coding silent(1)		large_intestine(1)		0						c.(151-153)CCC>CCT		syndecan 4 precursor							76.0	69.0	71.0					20																	43964468		2203	4300	6503	SO:0001819	synonymous_variant	6385					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	g.chr20:43964468G>A	X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"""Proteoglycans / Cell Surface : Syndecans"""	10661	protein-coding gene	gene with protein product	"""syndecan proteoglycan 4"""	600017	"""syndecan 4 (amphiglycan, ryudocan)"""			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.153C>T	20.37:g.43964468G>A						SDC4_uc010zws.1_Intron	p.P51P	NM_002999	NP_002990	P31431	SDC4_HUMAN			2	193	-		Myeloproliferative disorder(115;0.0122)	51			Extracellular (Potential).		O00773|Q16833|Q53FN9|Q6FGN3	Silent	SNP	ENST00000372733.3	37	c.153C>T	CCDS13350.1																																																																																				0.582	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	NM_002999		31	47	0	0	0	0	31	47				
NFATC2	4773	broad.mit.edu	37	20	50140540	50140540	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:50140540G>A	ENST00000396009.3	-	2	459	c.240C>T	c.(238-240)ggC>ggT	p.G80G	NFATC2_ENST00000371564.3_Silent_p.G80G|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000609943.1_Silent_p.G60G|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000414705.1_Silent_p.G60G	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	80					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGGGGGGCTCGCCAGAGAGAC	0.657																																						uc002xwd.2		NA																	0				ovary(2)	2						c.(238-240)GGC>GGT		nuclear factor of activated T-cells,							36.0	42.0	40.0					20																	50140540		2197	4287	6484	SO:0001819	synonymous_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140540G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.240C>T	20.37:g.50140540G>A						NFATC2_uc002xwc.2_Silent_p.G80G|NFATC2_uc010zyv.1_Intron|NFATC2_uc010zyw.1_Intron|NFATC2_uc010zyx.1_Silent_p.G60G|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Silent_p.G60G	p.G80G	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			2	460	-	Hepatocellular(150;0.248)		80					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.240C>T	CCDS13437.1																																																																																				0.657	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		22	75	0	0	0	0	22	75				
LSM14B	149986	broad.mit.edu	37	20	60706468	60706468	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:60706468G>A	ENST00000279068.6	+	7	1052	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	LSM14B_ENST00000253001.4_Missense_Mutation_p.E298K	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	298					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCAGAGTGCCGAAGCGCCCGC	0.537																																						uc010gjy.1		NA																	0					0						c.(892-894)GAA>AAA		LSM14 homolog B							60.0	66.0	64.0					20																	60706468		1998	4159	6157	SO:0001583	missense	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60706468G>A	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.892G>A	20.37:g.60706468G>A	ENSP00000279068:p.Glu298Lys					LSM14B_uc002ybv.2_Missense_Mutation_p.E272K|LSM14B_uc010zzz.1_Missense_Mutation_p.E218K	p.E298K	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		7	1098	+	Breast(26;3.97e-09)		298					Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	37	c.892G>A	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505148	0.44558	.	.	ENSG00000149657	ENST00000279068;ENST00000253001;ENST00000361670	T;T;T	0.53857	0.68;0.69;0.6	5.26	5.26	0.73747	.	0.162995	0.52532	D	0.000066	T	0.47060	0.1425	L	0.54965	1.715	0.49687	D	0.999817	P;P;P	0.50528	0.936;0.852;0.641	B;B;B	0.34346	0.18;0.18;0.079	T	0.59096	-0.7518	10	0.72032	D	0.01	.	18.6639	0.91481	0.0:0.0:1.0:0.0	.	218;298;298	E9PG81;Q9BX40;Q9BX40-2	.;LS14B_HUMAN;.	K	298;298;218	ENSP00000279068:E298K;ENSP00000253001:E298K;ENSP00000355209:E218K	ENSP00000253001:E298K	E	+	1	0	LSM14B	60139863	1.000000	0.71417	0.092000	0.20876	0.008000	0.06430	6.959000	0.76031	2.735000	0.93741	0.561000	0.74099	GAA		0.537	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703		7	27	0	0	0	0	7	27				
MTG2	26164	broad.mit.edu	37	20	60775858	60775858	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:60775858G>C	ENST00000370823.3	+	7	964	c.946G>C	c.(946-948)Gag>Cag	p.E316Q	MTG2_ENST00000436421.2_Missense_Mutation_p.E158Q|MTG2_ENST00000536470.1_Missense_Mutation_p.E88Q	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	316	Localized in the mitochondria.|Not localized in the mitochondria.|OBG-type G.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										TTCTCAGCCTGAGCCGTGGAC	0.547																																						uc002yce.3		NA																	0					0						c.(946-948)GAG>CAG		GTP binding protein 5							154.0	165.0	161.0					20																	60775858		2203	4300	6503	SO:0001583	missense	26164				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding	g.chr20:60775858G>C	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.946G>C	20.37:g.60775858G>C	ENSP00000359859:p.Glu316Gln					GTPBP5_uc011aab.1_Missense_Mutation_p.E88Q|GTPBP5_uc011aac.1_Missense_Mutation_p.E88Q|GTPBP5_uc011aad.1_Missense_Mutation_p.E88Q|GTPBP5_uc011aae.1_Missense_Mutation_p.E88Q|GTPBP5_uc011aaf.1_Missense_Mutation_p.E158Q	p.E316Q	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.5e-08)		7	984	+	Breast(26;3.52e-09)		316			G.|Localized in the mitocondria.|Not localized in the mitocondria.		A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	ENST00000370823.3	37	c.946G>C	CCDS13492.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433667	0.43224	.	.	ENSG00000101181	ENST00000536470;ENST00000436421;ENST00000370823	T;T;T	0.17691	2.26;2.26;2.26	5.67	5.67	0.87782	Small GTP-binding protein domain (1);GTP-binding domain, HSR1-related (1);	0.141044	0.64402	D	0.000006	T	0.17916	0.0430	N	0.25957	0.775	0.54753	D	0.999986	B;P	0.38395	0.392;0.629	B;B	0.42062	0.374;0.3	T	0.01545	-1.1328	10	0.87932	D	0	-43.2324	16.2833	0.82708	0.0:0.1412:0.8588:0.0	.	158;316	E7EU10;Q9H4K7	.;GTPB5_HUMAN	Q	88;158;316	ENSP00000445056:E88Q;ENSP00000392267:E158Q;ENSP00000359859:E316Q	ENSP00000359859:E316Q	E	+	1	0	GTPBP5	60209253	1.000000	0.71417	0.922000	0.36590	0.007000	0.05969	5.691000	0.68249	2.667000	0.90743	0.561000	0.74099	GAG		0.547	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		63	215	0	0	0	0	63	215				
RTEL1	51750	broad.mit.edu	37	20	62298846	62298846	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:62298846G>C	ENST00000360203.5	+	8	964	c.639G>C	c.(637-639)cgG>cgC	p.R213R	RTEL1_ENST00000318100.4_Silent_p.R213R|RTEL1_ENST00000508582.2_Silent_p.R237R|RTEL1_ENST00000370018.3_Silent_p.R213R|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.R213R					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			ACCTGTCCCGGAACCTGAAGC	0.572																																						uc002yfu.1		NA																	0					0						c.(637-639)CGG>CGC		regulator of telomere elongation helicase 1							226.0	193.0	204.0					20																	62298846		2203	4300	6503	SO:0001819	synonymous_variant	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62298846G>C	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.639G>C	20.37:g.62298846G>C						RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.R213R|RTEL1_uc011abd.1_Silent_p.R237R|RTEL1_uc002yfv.2_Silent_p.R263R|RTEL1_uc011abe.1_5'UTR|RTEL1_uc002yfw.2_RNA	p.R213R	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		8	982	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		213			Helicase ATP-binding.			Silent	SNP	ENST00000360203.5	37	c.639G>C																																																																																					0.572	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		61	145	0	0	0	0	61	145				
PCMTD2	55251	broad.mit.edu	37	20	62904683	62904683	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:62904683G>C	ENST00000308824.6	+	6	943	c.816G>C	c.(814-816)aaG>aaC	p.K272N	PCMTD2_ENST00000609372.1_Missense_Mutation_p.K122N|PCMTD2_ENST00000369758.4_Missense_Mutation_p.K245N|PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000266078.7_3'UTR	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	272						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACGGACTAAAGAACACCCCCA	0.493																																						uc002yil.3		NA																	0					0						c.(814-816)AAG>AAC		protein-L-isoaspartate (D-aspartate)							84.0	91.0	89.0					20																	62904683		2203	4300	6503	SO:0001583	missense	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62904683G>C	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.816G>C	20.37:g.62904683G>C	ENSP00000307854:p.Lys272Asn					PCMTD2_uc002yim.3_Missense_Mutation_p.K245N	p.K272N	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN			6	1016	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		272					E1P5H3|Q8IW60|Q9H4K2	Missense_Mutation	SNP	ENST00000308824.6	37	c.816G>C	CCDS13559.1	.	.	.	.	.	.	.	.	.	.	.	18.86	3.713026	0.68730	.	.	ENSG00000203880	ENST00000369758;ENST00000308824;ENST00000266078	T;T;T	0.55930	0.49;1.22;0.53	5.41	4.26	0.50523	.	0.092424	0.64402	D	0.000001	T	0.50309	0.1608	L	0.54323	1.7	0.31360	N	0.681494	P;B	0.35272	0.493;0.361	B;B	0.36186	0.219;0.157	T	0.64283	-0.6444	10	0.72032	D	0.01	-9.606	15.0221	0.71637	0.0801:0.0:0.9199:0.0	.	245;272	Q9NV79-2;Q9NV79	.;PCMD2_HUMAN	N	245;272;48	ENSP00000358773:K245N;ENSP00000307854:K272N;ENSP00000266078:K48N	ENSP00000266078:K48N	K	+	3	2	PCMTD2	62375127	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	2.091000	0.41691	2.523000	0.85059	0.655000	0.94253	AAG		0.493	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	NM_018257		27	87	0	0	0	0	27	87				
KRTAP27-1	643812	broad.mit.edu	37	21	31709486	31709486	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:31709486G>A	ENST00000382835.2	-	1	526	c.501C>T	c.(499-501)aaC>aaT	p.N167N		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	167						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TGGATTCAGGGTTCTGAGACT	0.478																																						uc002ynx.1		NA																	0				ovary(2)	2						c.(499-501)AAC>AAT		keratin associated protein 27-1							128.0	122.0	124.0					21																	31709486		2203	4300	6503	SO:0001819	synonymous_variant	643812					intermediate filament		g.chr21:31709486G>A	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.501C>T	21.37:g.31709486G>A							p.N167N	NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN			1	527	-			167						Silent	SNP	ENST00000382835.2	37	c.501C>T	CCDS33532.1																																																																																				0.478	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		31	78	0	0	0	0	31	78				
TIAM1	7074	broad.mit.edu	37	21	32493057	32493057	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:32493057T>C	ENST00000286827.3	-	29	4876	c.4405A>G	c.(4405-4407)Aaa>Gaa	p.K1469E	TIAM1_ENST00000541036.1_Missense_Mutation_p.K1409E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1469					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGGGACTCTTTCTCCGGGCTG	0.577																																						uc002yow.1		NA																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(4405-4407)AAA>GAA		T-cell lymphoma invasion and metastasis 1							50.0	54.0	52.0					21																	32493057		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32493057T>C		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4405A>G	21.37:g.32493057T>C	ENSP00000286827:p.Lys1469Glu					TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.K1409E	p.K1469E	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			29	4877	-			1469					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.4405A>G	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	T	9.177	1.022516	0.19433	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.39406	1.08;1.09	5.14	1.07	0.20283	.	0.496460	0.22090	N	0.064768	T	0.29458	0.0734	L	0.36672	1.1	0.33750	D	0.620531	B;B	0.10296	0.001;0.003	B;B	0.06405	0.002;0.001	T	0.34179	-0.9839	10	0.16896	T	0.51	.	12.3323	0.55046	0.0:0.0:0.3884:0.6116	.	1409;1469	F5GZ53;Q13009	.;TIAM1_HUMAN	E	1469;1409	ENSP00000286827:K1469E;ENSP00000441570:K1409E	ENSP00000286827:K1469E	K	-	1	0	TIAM1	31414928	1.000000	0.71417	0.816000	0.32577	0.939000	0.58152	2.437000	0.44828	0.253000	0.21552	0.533000	0.62120	AAA		0.577	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		3	58	0	0	0	0	3	58				
RUNX1	861	broad.mit.edu	37	21	36171624	36171624	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:36171624G>A	ENST00000344691.4	-	5	2437	c.860C>T	c.(859-861)tCt>tTt	p.S287F	RUNX1_ENST00000437180.1_Missense_Mutation_p.S314F|RUNX1_ENST00000399240.1_Missense_Mutation_p.S223F|RUNX1_ENST00000300305.3_Missense_Mutation_p.S314F|RUNX1_ENST00000325074.5_Missense_Mutation_p.S302F	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	287	Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S314fs*168(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						AAGTTCTGCAGAGAGGGTTGT	0.532			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	uc002yuh.2		NA		Dom	yes		21	21q22.3	861	T	runt-related transcription factor 1  (AML1)			L	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4		AML|preB- ALL|T-ALL		1	Deletion - Frameshift(1)	p.Y287fs*197(1)|p.S314fs*168(1)	haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						c.(859-861)TCT>TTT		runt-related transcription factor 1 isoform							161.0	146.0	151.0					21																	36171624		2203	4300	6503	SO:0001583	missense	861	Platelet_disorder_associated_with_Myeloid_Malignancies			myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36171624G>A	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.860C>T	21.37:g.36171624G>A	ENSP00000340690:p.Ser287Phe					RUNX1_uc002yui.2_Missense_Mutation_p.S223F|RUNX1_uc010gmu.2_Missense_Mutation_p.S314F|RUNX1_uc010gmv.2_Missense_Mutation_p.S314F|RUNX1_uc002yuj.3_Missense_Mutation_p.S182F|RUNX1_uc002yuk.3_Missense_Mutation_p.S314F|RUNX1_uc002yul.1_Missense_Mutation_p.S79F|RUNX1_uc002yum.1_Missense_Mutation_p.S118F	p.S287F	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN			5	2438	-			287	Missing: No DNA-binding.		Pro/Ser/Thr-rich.		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	ENST00000344691.4	37	c.860C>T	CCDS42922.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063012	0.76187	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000431176;ENST00000399245	T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45	5.78	4.85	0.62838	.	0.280229	0.28671	N	0.014529	T	0.77731	0.4174	M	0.62723	1.935	0.80722	D	1	D;P;P;D;P	0.71674	0.998;0.919;0.919;0.994;0.769	D;B;P;D;P	0.65010	0.915;0.424;0.51;0.931;0.507	T	0.79371	-0.1831	10	0.72032	D	0.01	-14.6217	14.5723	0.68220	0.0:0.2659:0.7341:0.0	.	290;182;314;302;287	C9JK12;Q01196-11;Q01196-8;Q01196-10;Q01196	.;.;.;.;RUNX1_HUMAN	F	287;314;314;302;223;48;290	ENSP00000340690:S287F;ENSP00000300305:S314F;ENSP00000409227:S314F;ENSP00000319459:S302F;ENSP00000382184:S223F	ENSP00000300305:S314F	S	-	2	0	RUNX1	35093494	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.171000	0.64996	2.731000	0.93534	0.650000	0.86243	TCT		0.532	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			6	97	0	0	0	0	6	97				
RUNX1	861	broad.mit.edu	37	21	36171681	36171681	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:36171681G>A	ENST00000344691.4	-	5	2380	c.803C>T	c.(802-804)tCt>tTt	p.S268F	RUNX1_ENST00000437180.1_Missense_Mutation_p.S295F|RUNX1_ENST00000399240.1_Missense_Mutation_p.S204F|RUNX1_ENST00000300305.3_Missense_Mutation_p.S295F|RUNX1_ENST00000325074.5_Missense_Mutation_p.S283F	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	268	Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TGGGTGCACAGAAGGAGAGGC	0.522			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	uc002yuh.2		NA		Dom	yes		21	21q22.3	861	T	runt-related transcription factor 1  (AML1)			L	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4		AML|preB- ALL|T-ALL		0				haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						c.(802-804)TCT>TTT		runt-related transcription factor 1 isoform							188.0	159.0	169.0					21																	36171681		2203	4300	6503	SO:0001583	missense	861	Platelet_disorder_associated_with_Myeloid_Malignancies			myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36171681G>A	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.803C>T	21.37:g.36171681G>A	ENSP00000340690:p.Ser268Phe					RUNX1_uc002yui.2_Missense_Mutation_p.S204F|RUNX1_uc010gmu.2_Missense_Mutation_p.S295F|RUNX1_uc010gmv.2_Missense_Mutation_p.S295F|RUNX1_uc002yuj.3_Missense_Mutation_p.S163F|RUNX1_uc002yuk.3_Missense_Mutation_p.S295F|RUNX1_uc002yul.1_Missense_Mutation_p.S60F|RUNX1_uc002yum.1_Missense_Mutation_p.S99F	p.S268F	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN			5	2381	-			268	Missing: No DNA-binding.		Pro/Ser/Thr-rich.		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	ENST00000344691.4	37	c.803C>T	CCDS42922.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473496	0.63737	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000431176;ENST00000399245	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	5.69	5.69	0.88448	.	0.353824	0.33382	N	0.004962	D	0.92237	0.7538	L	0.57536	1.79	0.80722	D	1	D;D;D;D;P	0.71674	0.996;0.986;0.989;0.998;0.894	P;P;P;D;P	0.67548	0.896;0.748;0.859;0.952;0.548	D	0.92431	0.5954	10	0.72032	D	0.01	-20.902	19.3918	0.94585	0.0:0.0:1.0:0.0	.	271;163;295;283;268	C9JK12;Q01196-11;Q01196-8;Q01196-10;Q01196	.;.;.;.;RUNX1_HUMAN	F	268;295;295;283;204;29;271	ENSP00000340690:S268F;ENSP00000300305:S295F;ENSP00000409227:S295F;ENSP00000319459:S283F;ENSP00000382184:S204F	ENSP00000300305:S295F	S	-	2	0	RUNX1	35093551	1.000000	0.71417	0.832000	0.32986	0.994000	0.84299	7.107000	0.77047	2.679000	0.91253	0.650000	0.86243	TCT		0.522	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			7	79	0	0	0	0	7	79				
ETS2	2114	broad.mit.edu	37	21	40191453	40191453	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:40191453G>A	ENST00000360214.3	+	9	1298	c.838G>A	c.(838-840)Gag>Aag	p.E280K	ETS2_ENST00000360938.3_Missense_Mutation_p.E280K	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	280					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CGACTCCCCTGAGAACGGTGC	0.557																																						uc002yxg.2		NA																	0				ovary(1)|lung(1)|breast(1)|pancreas(1)	4						c.(838-840)GAG>AAG		v-ets erythroblastosis virus E26 oncogene							79.0	70.0	73.0					21																	40191453		2203	4300	6503	SO:0001583	missense	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40191453G>A		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.838G>A	21.37:g.40191453G>A	ENSP00000353344:p.Glu280Lys					ETS2_uc002yxf.2_Missense_Mutation_p.E420K	p.E280K	NM_005239	NP_005230	P15036	ETS2_HUMAN			8	1034	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	280					A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	ENST00000360214.3	37	c.838G>A	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158514	0.78114	.	.	ENSG00000157557	ENST00000360214;ENST00000360938	T;T	0.15256	2.44;2.44	5.9	5.9	0.94986	.	0.575143	0.20167	N	0.097840	T	0.20129	0.0484	L	0.60455	1.87	0.80722	D	1	P	0.39665	0.682	B	0.31390	0.129	T	0.02526	-1.1146	10	0.35671	T	0.21	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	280	P15036	ETS2_HUMAN	K	280	ENSP00000353344:E280K;ENSP00000354194:E280K	ENSP00000353344:E280K	E	+	1	0	ETS2	39113323	1.000000	0.71417	0.670000	0.29842	0.007000	0.05969	6.282000	0.72639	2.788000	0.95919	0.650000	0.86243	GAG		0.557	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			46	34	0	0	0	0	46	34				
ETS2	2114	broad.mit.edu	37	21	40194646	40194646	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:40194646G>A	ENST00000360214.3	+	11	1703	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	ETS2_ENST00000360938.3_Missense_Mutation_p.E415K	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	415					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GATGAACTACGAGAAGCTGAG	0.493																																						uc002yxg.2		NA																	0				ovary(1)|lung(1)|breast(1)|pancreas(1)	4						c.(1243-1245)GAG>AAG		v-ets erythroblastosis virus E26 oncogene							110.0	94.0	100.0					21																	40194646		2203	4300	6503	SO:0001583	missense	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40194646G>A		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.1243G>A	21.37:g.40194646G>A	ENSP00000353344:p.Glu415Lys					ETS2_uc002yxf.2_Missense_Mutation_p.E555K	p.E415K	NM_005239	NP_005230	P15036	ETS2_HUMAN			10	1439	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	415			ETS.		A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	ENST00000360214.3	37	c.1243G>A	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	G	36	5.945714	0.97134	.	.	ENSG00000157557	ENST00000360214;ENST00000360938	T;T	0.20069	2.1;2.1	5.47	5.47	0.80525	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.108387	0.64402	D	0.000003	T	0.56514	0.1990	M	0.89658	3.05	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.65796	-0.6081	10	0.87932	D	0	.	18.9331	0.92574	0.0:0.0:1.0:0.0	.	415	P15036	ETS2_HUMAN	K	415	ENSP00000353344:E415K;ENSP00000354194:E415K	ENSP00000353344:E415K	E	+	1	0	ETS2	39116516	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.706000	0.98722	2.558000	0.86282	0.655000	0.94253	GAG		0.493	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			60	44	0	0	0	0	60	44				
ETS2	2114	broad.mit.edu	37	21	40194812	40194812	+	Nonstop_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:40194812G>T	ENST00000360214.3	+	11	1869	c.1409G>T	c.(1408-1410)tGa>tTa	p.*470L	ETS2_ENST00000360938.3_Nonstop_Mutation_p.*470L	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	0					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				ACGGAGGACTGAGGTCGCCGG	0.657																																						uc002yxg.2		NA																	0				ovary(1)|lung(1)|breast(1)|pancreas(1)	4						c.(1408-1410)TGA>TTA		v-ets erythroblastosis virus E26 oncogene							30.0	25.0	26.0					21																	40194812		2202	4300	6502	SO:0001578	stop_lost	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40194812G>T		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.1409G>T	21.37:g.40194812G>T	ENSP00000353344:p.*470Leuext*66					ETS2_uc002yxf.2_Nonstop_Mutation_p.*610L	p.*470L	NM_005239	NP_005230	P15036	ETS2_HUMAN			10	1605	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	470					A6NM68|D3DSH6|Q53Y89	Nonstop_Mutation	SNP	ENST00000360214.3	37	c.1409G>T	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818450	0.71028	.	.	ENSG00000157557	ENST00000360214;ENST00000360938	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2718	0.94013	0.0:0.0:1.0:0.0	.	.	.	.	L	470	.	.	X	+	2	2	ETS2	39116682	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.309000	0.78937	2.634000	0.89283	0.655000	0.94253	TGA		0.657	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			31	11	1	0	1.75e-11	1.88e-11	31	11				
PSMG1	8624	broad.mit.edu	37	21	40549373	40549373	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:40549373C>G	ENST00000331573.3	-	6	1245	c.780G>C	c.(778-780)aaG>aaC	p.K260N	PSMG1_ENST00000380900.2_Missense_Mutation_p.K239N	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	260					cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				TAACCAAACCCTTCAAGCTTC	0.323																																						uc002yxi.2		NA																	0					0						c.(778-780)AAG>AAC		Down syndrome critical region protein 2 isoform							64.0	63.0	64.0					21																	40549373		2202	4300	6502	SO:0001583	missense	8624				proteasome assembly	endoplasmic reticulum	protein binding	g.chr21:40549373C>G	AJ006291	CCDS13660.1, CCDS13661.1	21q22.3	2007-10-23	2007-10-23	2007-10-23	ENSG00000183527	ENSG00000183527			3043	protein-coding gene	gene with protein product		605296	"""Down syndrome critical region gene 2"""	DSCR2		10872820, 17189198	Standard	NM_003720		Approved	c21-LRP, LRPC21, PAC1	uc002yxi.4	O95456	OTTHUMG00000066034	ENST00000331573.3:c.780G>C	21.37:g.40549373C>G	ENSP00000329915:p.Lys260Asn					PSMG1_uc002yxj.2_Missense_Mutation_p.K239N|PSMG1_uc010gob.2_Missense_Mutation_p.K173N	p.K260N	NM_003720	NP_003711	O95456	PSMG1_HUMAN			6	909	-		Prostate(19;8.44e-08)	260					B5BUN2|Q6FHA3|Q6FHD3|Q6S713	Missense_Mutation	SNP	ENST00000331573.3	37	c.780G>C	CCDS13660.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.30|11.30	1.598866|1.598866	0.28445|0.28445	.|.	.|.	ENSG00000183527|ENSG00000183527	ENST00000440607|ENST00000331573;ENST00000380900	.|T;T	.|0.47869	.|0.83;0.83	5.64|5.64	-3.13|-3.13	0.05266|0.05266	.|.	.|0.603866	.|0.18799	.|N	.|0.130821	T|T	0.47210|0.47210	0.1433|0.1433	M|M	0.63428|0.63428	1.95|1.95	0.09310|0.09310	N|N	1|1	.|P;P	.|0.47962	.|0.726;0.903	.|P;P	.|0.50082	.|0.451;0.63	T|T	0.47971|0.47971	-0.9075|-0.9075	5|10	.|0.66056	.|D	.|0.02	-18.76|-18.76	7.9307|7.9307	0.29901|0.29901	0.0:0.4729:0.1344:0.3927|0.0:0.4729:0.1344:0.3927	.|.	.|239;260	.|O95456-2;O95456	.|.;PSMG1_HUMAN	R|N	117|260;239	.|ENSP00000329915:K260N;ENSP00000370286:K239N	.|ENSP00000329915:K260N	G|K	-|-	1|3	0|2	PSMG1|PSMG1	39471243|39471243	0.016000|0.016000	0.18221|0.18221	0.005000|0.005000	0.12908|0.12908	0.804000|0.804000	0.45430|0.45430	-0.482000|-0.482000	0.06544|0.06544	-0.631000|-0.631000	0.05560|0.05560	-1.124000|-1.124000	0.02001|0.02001	GGG|AAG		0.323	PSMG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141404.2	NM_003720		8	21	0	0	0	0	8	21				
FAM3B	54097	broad.mit.edu	37	21	42694889	42694889	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:42694889G>T	ENST00000357985.2	+	2	205	c.59G>T	c.(58-60)tGt>tTt	p.C20F	FAM3B_ENST00000398652.3_Missense_Mutation_p.C59F|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Missense_Mutation_p.C43F|FAM3B_ENST00000398647.3_Intron	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	20					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GCCTCCTTGTGTGCCTGGTAT	0.622																																						uc002yzb.1		NA																	0					0						c.(58-60)TGT>TTT		family with sequence similarity 3, member B							215.0	158.0	178.0					21																	42694889		2203	4300	6503	SO:0001583	missense	54097				apoptosis|insulin secretion	extracellular space	cytokine activity	g.chr21:42694889G>T	AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"""pancreatic-derived factor"""	608617	"""chromosome 21 open reading frame 11"""	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.59G>T	21.37:g.42694889G>T	ENSP00000350673:p.Cys20Phe					FAM3B_uc002yza.2_RNA|FAM3B_uc002yzc.1_Intron|FAM3B_uc002yzd.1_Missense_Mutation_p.C43F|FAM3B_uc011aeq.1_Missense_Mutation_p.C34F	p.C20F	NM_058186	NP_478066	P58499	FAM3B_HUMAN			2	205	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)	20						Missense_Mutation	SNP	ENST00000357985.2	37	c.59G>T	CCDS13671.1	.	.	.	.	.	.	.	.	.	.	G	7.072	0.568585	0.13560	.	.	ENSG00000183844	ENST00000357985;ENST00000398652;ENST00000398646	T;T;T	0.52754	0.71;0.65;0.66	4.9	4.0	0.46444	.	0.301547	0.32503	N	0.006015	T	0.37100	0.0991	L	0.45228	1.405	0.37512	D	0.91717	B;B;B	0.32350	0.366;0.063;0.023	B;B;B	0.30646	0.118;0.023;0.023	T	0.31194	-0.9952	10	0.29301	T	0.29	.	10.5174	0.44898	0.0:0.0:0.8062:0.1938	.	34;43;20	B7Z7I9;A8MTF8;P58499	.;.;FAM3B_HUMAN	F	20;59;43	ENSP00000350673:C20F;ENSP00000381646:C59F;ENSP00000381641:C43F	ENSP00000350673:C20F	C	+	2	0	FAM3B	41616759	0.994000	0.37717	0.289000	0.24876	0.378000	0.30076	4.238000	0.58688	1.028000	0.39785	0.655000	0.94253	TGT		0.622	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195142.1	NM_058186		9	44	1	0	0.000442599	0.000458503	9	44				
RRP1B	23076	broad.mit.edu	37	21	45104516	45104516	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:45104516C>G	ENST00000340648.4	+	10	1091	c.974C>G	c.(973-975)tCc>tGc	p.S325C		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	325					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		AAGCGCCTCTCCAAACTCATC	0.488																																						uc002zdk.2		NA																	0				skin(1)	1						c.(973-975)TCC>TGC		ribosomal RNA processing 1 homolog B							111.0	106.0	108.0					21																	45104516		2203	4300	6503	SO:0001583	missense	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45104516C>G	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.974C>G	21.37:g.45104516C>G	ENSP00000339145:p.Ser325Cys					RRP1B_uc002zdl.2_5'Flank	p.S325C	NM_015056	NP_055871	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	10	1088	+			325					Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	c.974C>G	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	C	7.145	0.582650	0.13749	.	.	ENSG00000160208	ENST00000340648	T	0.01246	5.11	5.4	-1.77	0.07982	.	0.714354	0.14612	N	0.308927	T	0.01421	0.0046	L	0.42245	1.32	0.09310	N	0.999999	B	0.12013	0.005	B	0.11329	0.006	T	0.42716	-0.9435	10	0.87932	D	0	-4.5118	5.015	0.14331	0.2438:0.1933:0.4813:0.0816	.	325	Q14684	RRP1B_HUMAN	C	325	ENSP00000339145:S325C	ENSP00000339145:S325C	S	+	2	0	RRP1B	43928944	0.995000	0.38212	0.056000	0.19401	0.521000	0.34408	0.264000	0.18497	-0.049000	0.13379	0.563000	0.77884	TCC		0.488	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056		4	44	0	0	0	0	4	44				
KRTAP10-1	386677	broad.mit.edu	37	21	45959218	45959218	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:45959218G>A	ENST00000400375.1	-	1	860	c.816C>T	c.(814-816)ctC>ctT	p.L272L	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	272						keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CGGGGCGGCAGAGGAGGGACA	0.726																																						uc002zfh.1		NA																	0				skin(1)	1						c.(814-816)CTC>CTT		keratin associated protein 10-1							21.0	27.0	25.0					21																	45959218		2196	4278	6474	SO:0001819	synonymous_variant	386677					keratin filament		g.chr21:45959218G>A	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.816C>T	21.37:g.45959218G>A						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.L272L	NM_198691	NP_941964	P60331	KR101_HUMAN			1	861	-			272					Q0VAR0|Q0VAR1	Silent	SNP	ENST00000400375.1	37	c.816C>T	CCDS42954.1																																																																																				0.726	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			12	22	0	0	0	0	12	22				
KRTAP10-1	386677	broad.mit.edu	37	21	45959660	45959660	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:45959660G>C	ENST00000400375.1	-	1	418	c.374C>G	c.(373-375)tCt>tGt	p.S125C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	125	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CTGGCAGCTAGACTGCTGGCA	0.617																																						uc002zfh.1		NA																	0				skin(1)	1						c.(373-375)TCT>TGT		keratin associated protein 10-1							78.0	85.0	83.0					21																	45959660		2203	4300	6503	SO:0001583	missense	386677					keratin filament		g.chr21:45959660G>C	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.374C>G	21.37:g.45959660G>C	ENSP00000383226:p.Ser125Cys					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S125C	NM_198691	NP_941964	P60331	KR101_HUMAN			1	419	-			125			10.|24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	c.374C>G	CCDS42954.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.678078	0.00751	.	.	ENSG00000215455	ENST00000400375;ENST00000545982	T	0.01998	4.51	2.08	2.08	0.27032	.	.	.	.	.	T	0.03783	0.0107	M	0.77712	2.385	0.09310	N	1	B	0.28605	0.217	B	0.19946	0.027	T	0.25813	-1.0121	9	0.62326	D	0.03	.	6.62	0.22798	0.0:0.303:0.697:0.0	.	125	P60331	KR101_HUMAN	C	125	ENSP00000383226:S125C	ENSP00000383226:S125C	S	-	2	0	KRTAP10-1	44784088	0.019000	0.18553	0.987000	0.45799	0.028000	0.11728	1.218000	0.32467	1.165000	0.42670	0.194000	0.17425	TCT		0.617	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			32	113	0	0	0	0	32	113				
KRTAP10-1	386677	broad.mit.edu	37	21	45959828	45959828	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:45959828G>A	ENST00000400375.1	-	1	250	c.206C>T	c.(205-207)tCa>tTa	p.S69L	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	69	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GGTGCAGCCTGATTGGCAGGG	0.716																																						uc002zfh.1		NA																	0				skin(1)	1						c.(205-207)TCA>TTA		keratin associated protein 10-1							46.0	53.0	51.0					21																	45959828		2197	4293	6490	SO:0001583	missense	386677					keratin filament		g.chr21:45959828G>A	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.206C>T	21.37:g.45959828G>A	ENSP00000383226:p.Ser69Leu					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S69L	NM_198691	NP_941964	P60331	KR101_HUMAN			1	251	-			69			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	c.206C>T	CCDS42954.1	.	.	.	.	.	.	.	.	.	.	g	1.723	-0.496144	0.04291	.	.	ENSG00000215455	ENST00000400375;ENST00000545982	T	0.00966	5.49	2.21	2.21	0.28008	.	.	.	.	.	T	0.01730	0.0055	M	0.73598	2.24	0.09310	N	1	B	0.24963	0.115	B	0.20577	0.03	T	0.29027	-1.0025	9	0.59425	D	0.04	.	9.3935	0.38388	0.0:0.0:1.0:0.0	.	69	P60331	KR101_HUMAN	L	69	ENSP00000383226:S69L	ENSP00000383226:S69L	S	-	2	0	KRTAP10-1	44784256	0.007000	0.16637	0.024000	0.17045	0.295000	0.27426	1.644000	0.37228	1.263000	0.44181	0.491000	0.48974	TCA		0.716	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			20	75	0	0	0	0	20	75				
KRTAP10-4	386672	broad.mit.edu	37	21	45994519	45994519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:45994519C>G	ENST00000400374.3	+	1	914	c.884C>G	c.(883-885)tCt>tGt	p.S295C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	295	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GGGGCTTCCTCTCTGTGCTGC	0.637																																						uc002zfk.1		NA																	0					0						c.(883-885)TCT>TGT		keratin associated protein 10-4							119.0	125.0	123.0					21																	45994519		2203	4300	6503	SO:0001583	missense	386672					keratin filament		g.chr21:45994519C>G	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.884C>G	21.37:g.45994519C>G	ENSP00000383225:p.Ser295Cys					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S295C	NM_198687	NP_941960	P60372	KR104_HUMAN			1	914	+			295			36 X 5 AA repeats of C-C-X(3).		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.884C>G	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	c	4.140	0.024289	0.08054	.	.	ENSG00000215454	ENST00000400374	T	0.00840	5.63	3.33	2.43	0.29744	.	.	.	.	.	T	0.01800	0.0057	M	0.78285	2.405	0.09310	N	1	B	0.34349	0.45	B	0.37267	0.245	T	0.38178	-0.9673	9	0.36615	T	0.2	.	6.5761	0.22567	0.0:0.8559:0.0:0.1441	.	295	P60372	KR104_HUMAN	C	295	ENSP00000383225:S295C	ENSP00000383225:S295C	S	+	2	0	KRTAP10-4	44818947	0.000000	0.05858	0.103000	0.21229	0.384000	0.30261	0.458000	0.21892	0.481000	0.27557	0.603000	0.83216	TCT		0.637	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		13	181	0	0	0	0	13	181				
PCNT	5116	broad.mit.edu	37	21	47773920	47773920	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:47773920G>A	ENST00000359568.5	+	11	1806	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	567	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGTGGGTTTAGAAGAGAAACC	0.498																																						uc002zji.3		NA																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(1699-1701)GAA>AAA		pericentrin							136.0	133.0	134.0					21																	47773920		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47773920G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1699G>A	21.37:g.47773920G>A	ENSP00000352572:p.Glu567Lys					PCNT_uc002zjj.2_Missense_Mutation_p.E449K	p.E567K	NM_006031	NP_006022	O95613	PCNT_HUMAN			11	1806	+	Breast(49;0.112)		567			Glu-rich.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.1699G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362000	0.24684	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.02345	4.33	4.46	4.46	0.54185	.	.	.	.	.	T	0.09335	0.0230	L	0.48642	1.525	0.26300	N	0.977986	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.96	T	0.32402	-0.9908	9	0.14656	T	0.56	.	14.2479	0.65999	0.0:0.0:1.0:0.0	.	449;567	O95613-2;O95613	.;PCNT_HUMAN	K	567;554	ENSP00000352572:E567K	ENSP00000338675:E554K	E	+	1	0	PCNT	46598348	0.995000	0.38212	0.850000	0.33497	0.050000	0.14768	2.909000	0.48758	2.191000	0.70037	0.558000	0.71614	GAA		0.498	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		3	14	0	0	0	0	3	14				
XKR3	150165	broad.mit.edu	37	22	17288751	17288751	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:17288751G>A	ENST00000331428.5	-	2	315	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TAATAAAGCTGATGGTAAATG	0.358																																						uc002zlv.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(211-213)ATC>ATT		X Kell blood group precursor-related family,							93.0	85.0	88.0					22																	17288751		1837	4081	5918	SO:0001819	synonymous_variant	150165					integral to membrane|plasma membrane		g.chr22:17288751G>A	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.213C>T	22.37:g.17288751G>A						XKR3_uc011agf.1_Silent_p.I71I	p.I71I	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN			2	311	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	71			Helical; (Potential).		B2RPN1|Q52PG8|Q8N7E1	Silent	SNP	ENST00000331428.5	37	c.213C>T	CCDS42975.1																																																																																				0.358	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		16	46	0	0	0	0	16	46				
CECR2	27443	broad.mit.edu	37	22	17956654	17956654	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:17956654G>C	ENST00000400573.5	+	2	92	c.85G>C	c.(85-87)Gat>Cat	p.D29H	CECR2_ENST00000342247.5_Missense_Mutation_p.D9H|CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000262608.8_Missense_Mutation_p.D10H|CECR2_ENST00000400585.2_5'UTR			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	51					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCTTCACAGAGATGACGTGGA	0.463																																						uc010gqw.1		NA																	0				ovary(1)|skin(1)	2						c.(25-27)GAT>CAT		cat eye syndrome chromosome region, candidate 2							110.0	104.0	106.0					22																	17956654		1911	4125	6036	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:17956654G>C	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400573.5:c.85G>C	22.37:g.17956654G>C	ENSP00000383417:p.Asp29His					CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR	p.D9H	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	1	151	+		all_epithelial(15;0.139)	51					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400573.5	37	c.25G>C		.	.	.	.	.	.	.	.	.	.	G	21.3	4.133172	0.77662	.	.	ENSG00000099954	ENST00000342247;ENST00000400573;ENST00000262608	T;T;T	0.53857	0.6;0.6;0.6	6.08	6.08	0.98989	.	0.000000	0.37053	U	0.002277	T	0.70343	0.3213	M	0.72353	2.195	0.44694	D	0.997685	D	0.89917	1.0	D	0.71184	0.972	T	0.71836	-0.4472	10	0.72032	D	0.01	-16.6488	13.8168	0.63297	0.0695:0.0:0.9305:0.0	.	51	Q9BXF3	CECR2_HUMAN	H	9;29;10	ENSP00000341219:D9H;ENSP00000383417:D29H;ENSP00000262608:D10H	ENSP00000262608:D10H	D	+	1	0	CECR2	16336654	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.133000	0.64764	2.894000	0.99253	0.591000	0.81541	GAT		0.463	CECR2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316104.5	NM_031413		22	57	0	0	0	0	22	57				
SLC25A18	83733	broad.mit.edu	37	22	18072904	18072904	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:18072904G>A	ENST00000327451.6	+	11	1388	c.850G>A	c.(850-852)Gct>Act	p.A284T	SLC25A18_ENST00000399813.1_Missense_Mutation_p.A284T|AC004019.13_ENST00000443935.1_RNA	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	284						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		CATGAAAGGCGCTGGCTGCCG	0.527																																					Colon(118;1560 1625 18964 29606 50093)	uc002zmp.1		NA																	0					0						c.(850-852)GCT>ACT		solute carrier	L-Glutamic Acid(DB00142)						103.0	99.0	100.0					22																	18072904		2203	4300	6503	SO:0001583	missense	83733					integral to membrane|mitochondrial inner membrane	binding|symporter activity	g.chr22:18072904G>A	AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"""Solute carriers"""	10988	protein-coding gene	gene with protein product		609303	"""solute carrier family 25 (mitochondrial carrier), member 18"""			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.850G>A	22.37:g.18072904G>A	ENSP00000329033:p.Ala284Thr					SLC25A18_uc002zmq.1_Missense_Mutation_p.A284T	p.A284T	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN		Lung(27;0.124)	11	1344	+			284			Solcar 3.			Missense_Mutation	SNP	ENST00000327451.6	37	c.850G>A	CCDS13744.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752639	0.69533	.	.	ENSG00000182902	ENST00000327451;ENST00000399813	T;T	0.79033	-1.23;-1.23	5.22	4.18	0.49190	Mitochondrial carrier domain (2);	0.057313	0.64402	D	0.000002	T	0.80691	0.4671	L	0.52364	1.645	0.58432	D	0.999998	D	0.60575	0.988	P	0.58130	0.833	T	0.77925	-0.2405	10	0.27082	T	0.32	.	13.3156	0.60405	0.0795:0.0:0.9205:0.0	.	284	Q9H1K4	GHC2_HUMAN	T	284	ENSP00000329033:A284T;ENSP00000382710:A284T	ENSP00000329033:A284T	A	+	1	0	SLC25A18	16452904	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	5.887000	0.69751	1.307000	0.44944	0.655000	0.94253	GCT		0.527	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316214.3	NM_031481		19	81	0	0	0	0	19	81				
BID	637	broad.mit.edu	37	22	18220787	18220787	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:18220787C>T	ENST00000399774.3	-	5	741	c.572G>A	c.(571-573)aGa>aAa	p.R191K	BID_ENST00000317361.7_Missense_Mutation_p.R237K|BID_ENST00000399765.1_Missense_Mutation_p.R95K|BID_ENST00000399767.1_Missense_Mutation_p.R95K|BID_ENST00000342111.5_3'UTR|BID_ENST00000551952.1_Missense_Mutation_p.R191K|BID_ENST00000473439.1_5'Flank	NM_001196.3|NM_001244569.1	NP_001187.1|NP_001231498.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	191					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|brain development (GO:0007420)|establishment of protein localization to membrane (GO:0090150)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|intrinsic apoptotic signaling pathway (GO:0097193)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of protein homooligomerization (GO:0032464)|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 release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of cell proliferation (GO:0042127)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|release of cytochrome c from mitochondria (GO:0001836)|response to estradiol (GO:0032355)|signal transduction in response to DNA damage (GO:0042770)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial membrane (GO:0032592)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	death receptor binding (GO:0005123)	p.R237K(1)		large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		TCTTACATTTCTGGCTAAGCT	0.552																																						uc002znd.1		NA																	1	Substitution - Missense(1)		breast(1)		0						c.(571-573)AGA>AAA		BH3 interacting domain death agonist isoform 2							108.0	107.0	107.0					22																	18220787		2203	4300	6503	SO:0001583	missense	637				activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding	g.chr22:18220787C>T	AF042083	CCDS13747.1, CCDS13748.1, CCDS13749.1	22q11.2	2014-03-07			ENSG00000015475	ENSG00000015475		"""Endogenous ligands"""	1050	protein-coding gene	gene with protein product		601997				8918887, 9721221	Standard	NM_001244567		Approved		uc002znc.2	P55957	OTTHUMG00000150087	ENST00000399774.3:c.572G>A	22.37:g.18220787C>T	ENSP00000382674:p.Arg191Lys					BID_uc002znc.1_Missense_Mutation_p.R237K|BID_uc002zne.1_Missense_Mutation_p.R95K|BID_uc010gra.1_RNA|BID_uc002znf.1_Missense_Mutation_p.R95K|BID_uc010grb.1_Missense_Mutation_p.R191K|BID_uc010grc.1_Missense_Mutation_p.R95K	p.R191K	NM_001196	NP_001187	P55957	BID_HUMAN		Lung(27;0.0419)	5	742	-		all_epithelial(15;0.198)	191					Q549M7|Q71T04|Q7Z4M9|Q8IY86	Missense_Mutation	SNP	ENST00000399774.3	37	c.572G>A	CCDS13748.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183387	0.57800	.	.	ENSG00000015475	ENST00000317361;ENST00000399767;ENST00000399774;ENST00000399765;ENST00000551952	T;T;T;T;T	0.28895	1.78;1.59;1.78;1.59;1.78	5.48	3.36	0.38483	.	0.148707	0.43110	D	0.000618	T	0.36441	0.0967	M	0.67397	2.05	0.19300	N	0.999974	B;P	0.38597	0.176;0.639	B;B	0.43783	0.322;0.431	T	0.21793	-1.0235	10	0.59425	D	0.04	.	9.5658	0.39398	0.0:0.8348:0.0:0.1652	.	191;237	P55957;P55957-2	BID_HUMAN;.	K	237;95;191;95;191	ENSP00000318822:R237K;ENSP00000382669:R95K;ENSP00000382674:R191K;ENSP00000382667:R95K;ENSP00000449236:R191K	ENSP00000318822:R237K	R	-	2	0	BID	16600787	0.097000	0.21791	0.185000	0.23176	0.596000	0.36781	0.714000	0.25808	0.670000	0.31165	0.655000	0.94253	AGA		0.552	BID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316178.1	NM_197966		24	66	0	0	0	0	24	66				
TUBA8	51807	broad.mit.edu	37	22	18604368	18604368	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:18604368G>C	ENST00000330423.3	+	2	199	c.126G>C	c.(124-126)aaG>aaC	p.K42N	TUBA8_ENST00000316027.6_5'UTR	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	42					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						AAGCTAGCAAGATCAACGATG	0.552																																						uc002znv.1		NA																	0					0						c.(124-126)AAG>AAC		tubulin, alpha 8							105.0	91.0	96.0					22																	18604368		2203	4300	6503	SO:0001583	missense	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18604368G>C	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.126G>C	22.37:g.18604368G>C	ENSP00000333326:p.Lys42Asn					TUBA8_uc002znr.2_5'UTR|TUBA8_uc002znw.1_Missense_Mutation_p.K66N|TUBA8_uc002znu.1_Missense_Mutation_p.K42N	p.K42N	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN			2	199	+			42					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	c.126G>C	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267914	0.23136	.	.	ENSG00000183785	ENST00000330423;ENST00000416740	T;T	0.69806	-0.43;-0.43	5.06	5.06	0.68205	Tubulin/FtsZ, GTPase domain (3);	0.430009	0.26931	N	0.021772	T	0.48447	0.1500	N	0.16903	0.455	0.38693	D	0.952812	B;B;B	0.30542	0.284;0.0;0.0	B;B;B	0.31101	0.124;0.003;0.0	T	0.55685	-0.8102	10	0.87932	D	0	.	7.7137	0.28692	0.1815:0.0:0.8185:0.0	.	66;42;41	C9J2C0;Q9NY65;Q7Z3M3	.;TBA8_HUMAN;.	N	42;66	ENSP00000333326:K42N;ENSP00000412646:K66N	ENSP00000333326:K42N	K	+	3	2	TUBA8	16984368	0.974000	0.33945	1.000000	0.80357	0.582000	0.36321	1.862000	0.39448	2.509000	0.84616	0.561000	0.74099	AAG		0.552	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		12	53	0	0	0	0	12	53				
TUBA8	51807	broad.mit.edu	37	22	18604405	18604405	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:18604405G>A	ENST00000330423.3	+	2	236	c.163G>A	c.(163-165)Gag>Aag	p.E55K	TUBA8_ENST00000316027.6_5'UTR	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	55					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CTTTTTCAGCGAGACTGGCAA	0.557																																						uc002znv.1		NA																	0					0						c.(163-165)GAG>AAG		tubulin, alpha 8							92.0	80.0	85.0					22																	18604405		2203	4300	6503	SO:0001583	missense	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18604405G>A	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.163G>A	22.37:g.18604405G>A	ENSP00000333326:p.Glu55Lys					TUBA8_uc002znr.2_5'UTR|TUBA8_uc002znw.1_Missense_Mutation_p.E79K|TUBA8_uc002znu.1_Missense_Mutation_p.E55K	p.E55K	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN			2	236	+			55					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	c.163G>A	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218953	0.79464	.	.	ENSG00000183785	ENST00000330423;ENST00000416740	T;T	0.71103	-0.54;-0.54	5.06	5.06	0.68205	Tubulin/FtsZ, GTPase domain (4);	0.178844	0.48767	N	0.000165	D	0.85835	0.5789	H	0.95884	3.735	0.80722	D	1	P;P;D	0.54772	0.947;0.866;0.968	P;P;P	0.51895	0.683;0.464;0.478	D	0.90845	0.4726	10	0.87932	D	0	.	17.7806	0.88522	0.0:0.0:1.0:0.0	.	79;55;54	C9J2C0;Q9NY65;Q7Z3M3	.;TBA8_HUMAN;.	K	55;79	ENSP00000333326:E55K;ENSP00000412646:E79K	ENSP00000333326:E55K	E	+	1	0	TUBA8	16984405	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.004000	0.88535	2.509000	0.84616	0.561000	0.74099	GAG		0.557	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		9	56	0	0	0	0	9	56				
CLTCL1	8218	broad.mit.edu	37	22	19207486	19207486	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:19207486C>T	ENST00000263200.10	-	18	2899	c.2827G>A	c.(2827-2829)Gag>Aag	p.E943K	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E943K|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E943K	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	943	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TAGCGGGCCTCGCTTTTGAAC	0.552			T	?	ALCL																																	uc002zpb.2		NA		Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				ovary(4)|central_nervous_system(1)	5						c.(2827-2829)GAG>AAG		clathrin, heavy polypeptide-like 1 isoform 1							142.0	142.0	142.0					22																	19207486		1983	4155	6138	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19207486C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2827G>A	22.37:g.19207486C>T	ENSP00000445677:p.Glu943Lys					CLTCL1_uc011agv.1_Missense_Mutation_p.E943K|CLTCL1_uc011agw.1_Missense_Mutation_p.E943K	p.E943K	NM_007098	NP_009029	P53675	CLH2_HUMAN			18	2902	-	Colorectal(54;0.0993)		943			Proximal segment.|Heavy chain arm.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.2827G>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444487	0.63178	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.18960	2.18;2.18;2.18	4.03	2.99	0.34606	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.28101	0.0693	M	0.80028	2.48	0.52099	D	0.999945	P;P	0.44946	0.814;0.846	B;B	0.40375	0.3;0.327	T	0.26155	-1.0111	10	0.45353	T	0.12	-17.2533	13.6428	0.62263	0.0:0.8433:0.1567:0.0	.	943;943	P53675-2;P53675	.;CLH2_HUMAN	K	943	ENSP00000439662:E943K;ENSP00000445677:E943K;ENSP00000441158:E943K	ENSP00000445677:E943K	E	-	1	0	CLTCL1	17587486	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	2.127000	0.42035	0.896000	0.36366	0.467000	0.42956	GAG		0.552	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		38	130	0	0	0	0	38	130				
PI4KA	5297	broad.mit.edu	37	22	21107310	21107310	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:21107310C>T	ENST00000572273.1	-	25	2924	c.2694G>A	c.(2692-2694)aaG>aaA	p.K898K	PI4KA_ENST00000255882.6_Silent_p.K956K|PI4KA_ENST00000466162.1_5'Flank			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	898					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCTCCTTGGTCTTGGCCTAGA	0.537																																					GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3		NA																	0				lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(2692-2694)AAG>AAA		phosphatidylinositol 4-kinase type 3 alpha							116.0	106.0	109.0					22																	21107310		2203	4300	6503	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21107310C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2694G>A	22.37:g.21107310C>T							p.K898K	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		25	2925	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	898					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.2694G>A																																																																																					0.537	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		29	50	0	0	0	0	29	50				
ZNF70	7621	broad.mit.edu	37	22	24086061	24086061	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:24086061G>A	ENST00000341976.3	-	2	1727	c.1267C>T	c.(1267-1269)Ctg>Ttg	p.L423L		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TTGCCGCACAGATTGCACACG	0.547																																						uc002zxs.2		NA																	0				ovary(2)	2						c.(1267-1269)CTG>TTG		zinc finger protein 70							116.0	114.0	114.0					22																	24086061		2203	4300	6503	SO:0001819	synonymous_variant	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24086061G>A	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.1267C>T	22.37:g.24086061G>A						ZNF70_uc002zxr.1_5'Flank	p.L423L	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN			2	1728	-			423			C2H2-type 11.			Silent	SNP	ENST00000341976.3	37	c.1267C>T	CCDS13812.1																																																																																				0.547	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		59	119	0	0	0	0	59	119				
ZNF70	7621	broad.mit.edu	37	22	24086776	24086776	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:24086776G>C	ENST00000341976.3	-	2	1012	c.552C>G	c.(550-552)ctC>ctG	p.L184L		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TCTGGTGCCTGAGCAGGTGGG	0.622																																						uc002zxs.2		NA																	0				ovary(2)	2						c.(550-552)CTC>CTG		zinc finger protein 70							71.0	61.0	65.0					22																	24086776		2203	4300	6503	SO:0001819	synonymous_variant	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24086776G>C	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.552C>G	22.37:g.24086776G>C						ZNF70_uc002zxr.1_5'Flank	p.L184L	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN			2	1013	-			184			C2H2-type 2.			Silent	SNP	ENST00000341976.3	37	c.552C>G	CCDS13812.1																																																																																				0.622	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		13	48	0	0	0	0	13	48				
UPB1	51733	broad.mit.edu	37	22	24911253	24911253	+	Missense_Mutation	SNP	C	C	T	rs144135211		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:24911253C>T	ENST00000326010.5	+	6	1050	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	UPB1_ENST00000413389.2_Missense_Mutation_p.R168W|AP000355.2_ENST00000432032.1_RNA	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	236	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					TTGCTACGGGCGGCACCACCC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		17655	0.001		0.0	False		,,,				2504	0.0					uc003aaf.2		NA																	0				ovary(2)	2						c.(706-708)CGG>TGG		beta-ureidopropionase		C	TRP/ARG	0,4406		0,0,2203	125.0	99.0	108.0		706	5.1	1.0	22	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	yes	missense	UPB1	NM_016327.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	236/385	24911253	1,13005	2203	4300	6503	SO:0001583	missense	51733				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding	g.chr22:24911253C>T	AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.706C>T	22.37:g.24911253C>T	ENSP00000324343:p.Arg236Trp					UPB1_uc003aae.2_Missense_Mutation_p.R168W|UPB1_uc011ajt.1_Missense_Mutation_p.R236W	p.R236W	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN			6	827	+	Colorectal(2;0.0339)		236			CN hydrolase.		A3KMF8|Q9UIR3	Missense_Mutation	SNP	ENST00000326010.5	37	c.706C>T	CCDS13827.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	28.6	4.934644	0.92458	0.0	1.16E-4	ENSG00000100024	ENST00000413389;ENST00000326010	D;D	0.85773	-2.03;-2.03	5.11	5.11	0.69529	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.055919	0.64402	D	0.000001	D	0.94006	0.8080	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94905	0.8060	10	0.87932	D	0	-8.5158	12.7587	0.57350	0.1637:0.8363:0.0:0.0	.	236;168	Q9UBR1;E7EUZ5	BUP1_HUMAN;.	W	168;236	ENSP00000406057:R168W;ENSP00000324343:R236W	ENSP00000324343:R236W	R	+	1	2	UPB1	23241253	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.100000	0.57762	2.663000	0.90544	0.650000	0.86243	CGG		0.562	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1			26	64	0	0	0	0	26	64				
ZNRF3	84133	broad.mit.edu	37	22	29445929	29445929	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:29445929G>A	ENST00000544604.2	+	8	1935	c.1760G>A	c.(1759-1761)cGc>cAc	p.R587H	ZNRF3_ENST00000332811.4_Missense_Mutation_p.R487H|ZNRF3_ENST00000406323.3_Missense_Mutation_p.R487H|ZNRF3_ENST00000402174.1_Missense_Mutation_p.R487H	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	587					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TCCACCTTCCGCAGCTCCCTC	0.667																																						uc003aeg.2		NA																	0				ovary(1)	1						c.(1459-1461)CGC>CAC		zinc and ring finger 3							49.0	58.0	55.0					22																	29445929		2098	4240	6338	SO:0001583	missense	84133					integral to membrane	zinc ion binding	g.chr22:29445929G>A	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1760G>A	22.37:g.29445929G>A	ENSP00000443824:p.Arg587His					ZNRF3_uc003aeh.1_Missense_Mutation_p.R487H	p.R487H	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN			8	1625	+			587			Cytoplasmic (Potential).		B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	c.1460G>A	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757033	0.89843	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.89058	0.6607	M	0.65498	2.005	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.89747	0.3937	10	0.72032	D	0.01	1.5144	18.24	0.89965	0.0:0.0:1.0:0.0	.	587	Q9ULT6	ZNRF3_HUMAN	H	587;487;294;487;487	ENSP00000443824:R587H;ENSP00000328614:R487H;ENSP00000384456:R487H;ENSP00000384553:R487H	ENSP00000328614:R487H	R	+	2	0	ZNRF3	27775929	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.534000	0.82004	2.546000	0.85860	0.655000	0.94253	CGC		0.667	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		32	109	0	0	0	0	32	109				
SMTN	6525	broad.mit.edu	37	22	31484020	31484020	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:31484020G>A	ENST00000347557.2	+	3	339	c.121G>A	c.(121-123)Gag>Aag	p.E41K	SMTN_ENST00000358743.1_Missense_Mutation_p.E41K|SMTN_ENST00000333137.7_Missense_Mutation_p.E41K|SMTN_ENST00000475548.1_3'UTR	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	41					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.E41K(2)|p.E33K(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCAGCGGCAGGAGCTGGAGCG	0.652																																						uc003ajl.1		NA																	3	Substitution - Missense(3)		lung(3)	large_intestine(2)|pancreas(1)	3						c.(121-123)GAG>AAG		smoothelin isoform c							25.0	27.0	26.0					22																	31484020		2199	4300	6499	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31484020G>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.121G>A	22.37:g.31484020G>A	ENSP00000328635:p.Glu41Lys					SMTN_uc003ajk.1_Missense_Mutation_p.E41K|SMTN_uc003ajm.1_Missense_Mutation_p.E41K|SMTN_uc011ale.1_Missense_Mutation_p.E95K|SMTN_uc011alf.1_Missense_Mutation_p.E97K|SMTN_uc003ajn.1_Missense_Mutation_p.E33K|SMTN_uc011alg.1_5'Flank	p.E41K	NM_006932	NP_008863	P53814	SMTN_HUMAN			3	339	+			41			Potential.		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.121G>A	CCDS13886.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.586669|5.586669	0.96578|0.96578	.|.	.|.	ENSG00000183963|ENSG00000183963	ENST00000426927;ENST00000440425;ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000431481|ENST00000438223	T;T;T;T;T;T|.	0.39056|.	1.1;1.1;1.1;1.1;1.1;1.1|.	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	0.000000|.	0.36932|.	N|.	0.002339|.	T|T	0.54481|0.54481	0.1861|0.1861	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.87578|.	0.998;0.998;0.998;0.998;0.998;0.997|.	T|T	0.50701|0.50701	-0.8797|-0.8797	10|5	0.72032|.	D|.	0.01|.	-23.4851|-23.4851	18.2748|18.2748	0.90078|0.90078	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	97;95;33;41;41;41|.	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5|.	.;.;.;.;SMTN_HUMAN;.|.	K|E	95;95;41;41;41;41;33;33|95	ENSP00000399432:E95K;ENSP00000401341:E95K;ENSP00000351593:E41K;ENSP00000328635:E41K;ENSP00000329532:E41K;ENSP00000394637:E33K|.	ENSP00000329393:E41K|.	E|G	+|+	1|2	0|0	SMTN|SMTN	29814020|29814020	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.606000|6.606000	0.74159|0.74159	2.401000|2.401000	0.81631|0.81631	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.652	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		6	28	0	0	0	0	6	28				
RFPL2	10739	broad.mit.edu	37	22	32587230	32587230	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:32587230C>T	ENST00000400237.1	-	5	1601	c.666G>A	c.(664-666)gaG>gaA	p.E222E	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400236.3_Silent_p.E132E|RFPL2_ENST00000248983.4_Silent_p.E132E|RFPL2_ENST00000248980.4_Silent_p.E161E			O75678	RFPL2_HUMAN	ret finger protein-like 2	222	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CGTCAAATCTCTCGGCAAGGT	0.582																																						uc003amg.3		NA																	0				skin(1)	1						c.(664-666)GAG>GAA		ret finger protein-like 2 isoform 2							123.0	113.0	116.0					22																	32587230		2203	4300	6503	SO:0001819	synonymous_variant	10739						zinc ion binding	g.chr22:32587230C>T	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.666G>A	22.37:g.32587230C>T						RFPL2_uc003ame.3_Silent_p.E161E|RFPL2_uc003amf.3_Silent_p.E132E|RFPL2_uc003amh.3_Silent_p.E132E	p.E222E	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN			5	1602	-			222			B30.2/SPRY.			Silent	SNP	ENST00000400237.1	37	c.666G>A	CCDS43009.2																																																																																				0.582	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		8	95	0	0	0	0	8	95				
MYH9	4627	broad.mit.edu	37	22	36691644	36691645	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:36691644_36691645TC>AT	ENST00000216181.5	-	26	3621_3622	c.3391_3392GA>AT	c.(3391-3393)GAg>ATg	p.E1131M		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1131					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTTCTGCTTCTCAGCTTTATTC	0.55			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NA		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(3391-3393)GAG>ATG		myosin, heavy polypeptide 9, non-muscle																																				SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36691644_36691645TC>AT		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3391_3392delinsAT	22.37:g.36691644_36691645delinsAT	ENSP00000216181:p.Glu1131Met						p.E1131M	NM_002473	NP_002464	P35579	MYH9_HUMAN			26	3622_3623	-			1131			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	DNP	ENST00000216181.5	37	c.3391_3392GA>AT	CCDS13927.1																																																																																				0.550	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		7	37	0	0	0	0	7	37				
TRIOBP	11078	broad.mit.edu	37	22	38120212	38120212	+	Missense_Mutation	SNP	C	C	G	rs547648221		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:38120212C>G	ENST00000406386.3	+	7	1904	c.1649C>G	c.(1648-1650)aCa>aGa	p.T550R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	550					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GACAACCCCACAACATCCTGT	0.597																																						uc003atr.2		NA																	0				central_nervous_system(1)	1						c.(1648-1650)ACA>AGA		TRIO and F-actin binding protein isoform 6																																				SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120212C>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1649C>G	22.37:g.38120212C>G	ENSP00000384312:p.Thr550Arg					TRIOBP_uc003atu.2_Missense_Mutation_p.T378R|TRIOBP_uc003atq.1_Missense_Mutation_p.T550R|TRIOBP_uc003ats.1_Missense_Mutation_p.T378R	p.T550R	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	1920	+	Melanoma(58;0.0574)		550					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.1649C>G	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	-	0.075	-1.194885	0.01594	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.18502	2.21	1.95	-3.2	0.05156	.	.	.	.	.	T	0.09291	0.0229	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31166	-0.9953	9	0.52906	T	0.07	.	4.4173	0.11463	0.1609:0.4517:0.3874:0.0	.	550	Q9H2D6	TARA_HUMAN	R	550	ENSP00000384312:T550R	ENSP00000384312:T550R	T	+	2	0	TRIOBP	36450158	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.704000	0.05058	-0.791000	0.04486	-1.737000	0.00689	ACA		0.597	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			6	249	0	0	0	0	6	249				
CBX7	23492	broad.mit.edu	37	22	39530549	39530549	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:39530549G>C	ENST00000216133.5	-	5	660	c.455C>G	c.(454-456)tCg>tGg	p.S152W	CBX7_ENST00000401405.3_Intron|CBX7_ENST00000475962.1_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	152					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sebaceous gland development (GO:0048733)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					CTTCTTGCGCGAGAGCCGCAG	0.701																																					GBM(46;845 904 3560 9866 23971)	uc003axb.2		NA																	0				ovary(1)	1						c.(454-456)TCG>TGG		chromobox homolog 7							18.0	21.0	20.0					22																	39530549		2198	4294	6492	SO:0001583	missense	23492				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex		g.chr22:39530549G>C		CCDS13986.1	22q13.1	2010-07-06			ENSG00000100307	ENSG00000100307			1557	protein-coding gene	gene with protein product		608457					Standard	NM_175709		Approved		uc003axb.3	O95931	OTTHUMG00000150418	ENST00000216133.5:c.455C>G	22.37:g.39530549G>C	ENSP00000216133:p.Ser152Trp					CBX7_uc003axc.2_Intron	p.S152W	NM_175709	NP_783640	O95931	CBX7_HUMAN			5	544	-	Melanoma(58;0.04)		152					Q86T17	Missense_Mutation	SNP	ENST00000216133.5	37	c.455C>G	CCDS13986.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.842014	0.71488	.	.	ENSG00000100307	ENST00000216133	T	0.33654	1.4	4.55	4.55	0.56014	.	0.919125	0.09439	N	0.802042	T	0.55353	0.1915	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.53739	-0.8396	10	0.62326	D	0.03	.	18.1875	0.89796	0.0:0.0:1.0:0.0	.	152	O95931	CBX7_HUMAN	W	152	ENSP00000216133:S152W	ENSP00000216133:S152W	S	-	2	0	CBX7	37860495	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.272000	0.65559	2.493000	0.84123	0.561000	0.74099	TCG		0.701	CBX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318020.1	NM_175709		6	20	0	0	0	0	6	20				
ADSL	158	broad.mit.edu	37	22	40745953	40745953	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:40745953C>G	ENST00000216194.7	+	2	327	c.271C>G	c.(271-273)Cac>Gac	p.H91D	ADSL_ENST00000342312.6_Missense_Mutation_p.H91D|ADSL_ENST00000454266.2_Missense_Mutation_p.H91D	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	91					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						TGTGATGGCTCACGTGCACAC	0.468																																					Colon(4;65 130 1097 1516)	uc003ayp.3		NA																	0				ovary(1)	1						c.(271-273)CAC>GAC		adenylosuccinate lyase isoform a							170.0	128.0	142.0					22																	40745953		2203	4300	6503	SO:0001583	missense	158				AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	g.chr22:40745953C>G	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.271C>G	22.37:g.40745953C>G	ENSP00000216194:p.His91Asp					ADSL_uc003ays.3_Missense_Mutation_p.H91D|ADSL_uc003ayq.3_Missense_Mutation_p.H91D|ADSL_uc003ayr.3_5'UTR|ADSL_uc003ayt.3_Missense_Mutation_p.H91D	p.H91D	NM_000026	NP_000017	P30566	PUR8_HUMAN			2	330	+			91					B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	c.271C>G	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072722	0.93950	.	.	ENSG00000239900	ENST00000216194;ENST00000544206;ENST00000425605;ENST00000454266;ENST00000342312	D;D;D	0.95137	-3.62;-3.62;-3.57	5.59	5.59	0.84812	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98482	0.9494	H	0.97516	4.02	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.99379	1.0922	10	0.87932	D	0	-24.2593	19.6899	0.95996	0.0:1.0:0.0:0.0	.	91;91;91;91	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	D	91	ENSP00000216194:H91D;ENSP00000390107:H91D;ENSP00000341429:H91D	ENSP00000216194:H91D	H	+	1	0	ADSL	39075899	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.340000	0.79292	2.648000	0.89879	0.650000	0.86243	CAC		0.468	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		4	74	0	0	0	0	4	74				
ZC3H7B	23264	broad.mit.edu	37	22	41738568	41738568	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:41738568C>T	ENST00000352645.4	+	12	1490	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	ZC3H7B_ENST00000351589.4_Silent_p.I411I	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	427					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCTTGCTCATCAAGAACCCCT	0.602																																						uc003azw.2		NA																	0				central_nervous_system(1)	1						c.(1231-1233)ATC>ATT		zinc finger CCCH-type containing 7B							93.0	75.0	81.0					22																	41738568		2203	4300	6503	SO:0001819	synonymous_variant	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41738568C>T		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1233C>T	22.37:g.41738568C>T						ZC3H7B_uc010gyl.1_Intron	p.I411I	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN			12	1449	+			427					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	ENST00000352645.4	37	c.1233C>T	CCDS14013.1																																																																																				0.602	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		4	47	0	0	0	0	4	47				
PACSIN2	11252	broad.mit.edu	37	22	43272287	43272287	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:43272287C>G	ENST00000263246.3	-	10	1405	c.1204G>C	c.(1204-1206)Gag>Cag	p.E402Q	PACSIN2_ENST00000403744.3_Missense_Mutation_p.E402Q|PACSIN2_ENST00000337959.4_Missense_Mutation_p.E361Q|PACSIN2_ENST00000402229.1_Missense_Mutation_p.E402Q|PACSIN2_ENST00000407585.1_Missense_Mutation_p.E361Q	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	402					actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				TTGTTAGACTCATCGTCTGAC	0.617																																						uc010gzg.2		NA																	0					0						c.(1204-1206)GAG>CAG		protein kinase C and casein kinase substrate in							92.0	99.0	97.0					22																	43272287		2074	4216	6290	SO:0001583	missense	11252				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	g.chr22:43272287C>G	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.1204G>C	22.37:g.43272287C>G	ENSP00000263246:p.Glu402Gln					PACSIN2_uc003bdg.3_Missense_Mutation_p.E402Q|PACSIN2_uc003bde.3_Missense_Mutation_p.E402Q|PACSIN2_uc003bdf.3_Missense_Mutation_p.E361Q	p.E402Q	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN			10	1426	-		Glioma(61;0.222)	402					O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Missense_Mutation	SNP	ENST00000263246.3	37	c.1204G>C	CCDS43023.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717263	0.89205	.	.	ENSG00000100266	ENST00000263246;ENST00000337959;ENST00000407585;ENST00000403744;ENST00000402229	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	4.85	4.85	0.62838	Src homology-3 domain (1);	0.194268	0.53938	N	0.000047	T	0.50718	0.1632	M	0.64997	1.995	0.80722	D	1	D;D	0.63046	0.977;0.992	P;P	0.60949	0.864;0.881	T	0.45071	-0.9286	9	.	.	.	-21.6448	18.856	0.92252	0.0:1.0:0.0:0.0	.	361;402	Q6FIA3;Q9UNF0	.;PACN2_HUMAN	Q	402;361;361;402;402	ENSP00000263246:E402Q;ENSP00000338379:E361Q;ENSP00000385952:E361Q;ENSP00000385372:E402Q;ENSP00000385040:E402Q	.	E	-	1	0	PACSIN2	41602231	1.000000	0.71417	0.982000	0.44146	0.970000	0.65996	5.659000	0.68010	2.645000	0.89757	0.655000	0.94253	GAG		0.617	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229		14	51	0	0	0	0	14	51				
KIAA1644	85352	broad.mit.edu	37	22	44681333	44681334	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:44681333_44681334TC>AT	ENST00000381176.4	-	4	705_706	c.573_574GA>AT	c.(571-576)ctGAtg>ctATtg	p.M192L		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	192						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TGGAAGGTCATCAGCGGTGGGC	0.609																																						uc003bet.2		NA																	0				ovary(1)	1						c.(571-576)CTGATG>CTATTG		hypothetical protein LOC85352 precursor																																				SO:0001583	missense	85352					integral to membrane		g.chr22:44681333_44681334TC>AT	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.573_574delinsAT	22.37:g.44681333_44681334delinsAT	ENSP00000370568:p.Met192Leu						p.M192L	NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN			4	706_707	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	192			Cytoplasmic (Potential).		A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	DNP	ENST00000381176.4	37	c.573_574GA>AT	CCDS43025.1																																																																																				0.609	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		19	71	0	0	0	0	19	71				
KIAA1644	85352	broad.mit.edu	37	22	44681481	44681481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:44681481C>T	ENST00000381176.4	-	4	558	c.426G>A	c.(424-426)atG>atA	p.M142I		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	142						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GGTCCTGTTTCATCCATCGTC	0.652																																						uc003bet.2		NA																	0				ovary(1)	1						c.(424-426)ATG>ATA		hypothetical protein LOC85352 precursor							104.0	102.0	103.0					22																	44681481		1949	4153	6102	SO:0001583	missense	85352					integral to membrane		g.chr22:44681481C>T	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.426G>A	22.37:g.44681481C>T	ENSP00000370568:p.Met142Ile						p.M142I	NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN			4	559	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	142			Cytoplasmic (Potential).		A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	ENST00000381176.4	37	c.426G>A	CCDS43025.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612632	0.87258	.	.	ENSG00000138944	ENST00000381176	.	.	.	5.06	5.06	0.68205	.	0.052682	0.85682	D	0.000000	T	0.45397	0.1340	N	0.24115	0.695	0.30000	N	0.816135	B	0.12013	0.005	B	0.18561	0.022	T	0.51694	-0.8673	8	0.37606	T	0.19	-29.3208	15.5806	0.76432	0.0:1.0:0.0:0.0	.	142	Q3SXP7	K1644_HUMAN	I	142	.	ENSP00000370568:M142I	M	-	3	0	KIAA1644	43012814	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.191000	0.65110	2.345000	0.79718	0.561000	0.74099	ATG		0.652	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		36	95	0	0	0	0	36	95				
GTSE1	51512	broad.mit.edu	37	22	46704811	46704811	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:46704811G>A	ENST00000454366.1	+	4	945	c.733G>A	c.(733-735)Gga>Aga	p.G245R		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	226					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTCTGTTAGAGGAAGAAGCAT	0.612																																					GBM(153;542 1915 12487 29016 50495)	uc011aqy.1		NA																	0				ovary(1)	1						c.(733-735)GGA>AGA		G-2 and S-phase expressed 1							42.0	48.0	46.0					22																	46704811		2194	4290	6484	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46704811G>A	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.733G>A	22.37:g.46704811G>A	ENSP00000415430:p.Gly245Arg					GTSE1_uc011aqz.1_Missense_Mutation_p.G92R	p.G245R	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	4	945	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	226					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.733G>A	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219427	0.58560	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.08458	3.09	5.15	4.14	0.48551	.	0.652468	0.15662	N	0.250863	T	0.19327	0.0464	L	0.47190	1.495	0.09310	N	1	D	0.63046	0.992	D	0.65573	0.936	T	0.03335	-1.1047	10	0.72032	D	0.01	-17.4064	9.7309	0.40361	0.0958:0.0:0.9042:0.0	.	226	Q9NYZ3	GTSE1_HUMAN	R	245;205	ENSP00000415430:G245R	ENSP00000354634:G205R	G	+	1	0	GTSE1	45083475	0.861000	0.29849	0.318000	0.25279	0.021000	0.10359	2.647000	0.46639	1.297000	0.44761	0.655000	0.94253	GGA		0.612	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		20	71	0	0	0	0	20	71				
TUBGCP6	85378	broad.mit.edu	37	22	50654234	50654234	+	IGR	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:50654234G>A	ENST00000248846.5	-	0	5612				SELO_ENST00000380903.2_Silent_p.L480L|TUBGCP6_ENST00000491449.1_5'Flank|SELO_ENST00000492092.1_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGGCCAGGCTGATGGAGCAGT	0.587																																						uc011arr.1		NA																	0					0						c.(1438-1440)CTG>CTA		selenoprotein O							55.0	63.0	60.0					22																	50654234		2077	4208	6285	SO:0001628	intergenic_variant	83642							g.chr22:50654234G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150		22.37:g.50654234G>A						SELO_uc010hap.2_Silent_p.L291L|SELO_uc003bjy.2_Silent_p.L160L|SELO_uc003bjz.2_Missense_Mutation_p.D233N	p.L480L	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	6	1498	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	480					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.1440G>A	CCDS14087.1																																																																																				0.587	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		31	63	0	0	0	0	31	63				
PPP6R2	9701	broad.mit.edu	37	22	50845240	50845240	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:50845240A>G	ENST00000216061.5	+	5	720	c.350A>G	c.(349-351)aAt>aGt	p.N117S	PPP6R2_ENST00000359139.3_Missense_Mutation_p.N117S|PPP6R2_ENST00000395744.3_Missense_Mutation_p.N117S|PPP6R2_ENST00000395741.3_Missense_Mutation_p.N117S			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	117						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CCGCCTCTCAATCCTCTGCTC	0.547																																						uc003blb.1		NA																	0					0						c.(349-351)AAT>AGT		SAPS domain family, member 2							230.0	232.0	231.0					22																	50845240		2203	4300	6503	SO:0001583	missense	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50845240A>G	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.350A>G	22.37:g.50845240A>G	ENSP00000216061:p.Asn117Ser					SAPS2_uc003bky.1_Missense_Mutation_p.N117S|SAPS2_uc003bkz.1_Missense_Mutation_p.N117S|SAPS2_uc003blc.2_Missense_Mutation_p.N117S|SAPS2_uc003bla.1_Missense_Mutation_p.N117S	p.N117S	NM_014678	NP_055493	O75170	PP6R2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.222)	5	772	+		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	117					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	37	c.350A>G		.	.	.	.	.	.	.	.	.	.	a	24.7	4.558057	0.86231	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.51770	0.1694	M	0.66297	2.02	0.58432	D	0.999996	D;P;D;D;D	0.57257	0.964;0.939;0.979;0.964;0.979	P;P;D;P;P	0.64237	0.797;0.632;0.923;0.797;0.897	T	0.55528	-0.8127	10	0.87932	D	0	-16.4527	14.3682	0.66820	1.0:0.0:0.0:0.0	.	117;117;117;117;117	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	S	117	ENSP00000352051:N117S;ENSP00000379090:N117S;ENSP00000379093:N117S;ENSP00000216061:N117S	ENSP00000216061:N117S	N	+	2	0	PPP6R2	49192106	1.000000	0.71417	0.999000	0.59377	0.756000	0.42949	9.033000	0.93741	2.042000	0.60477	0.449000	0.29647	AAT		0.547	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		88	257	0	0	0	0	88	257				
SETD5	55209	broad.mit.edu	37	3	9517533	9517533	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:9517533C>T	ENST00000406341.1	+	22	4277	c.4087C>T	c.(4087-4089)Cag>Tag	p.Q1363*	SETD5_ENST00000407969.1_Nonsense_Mutation_p.Q1382*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.Q1265*|SETD5_ENST00000402466.1_Nonsense_Mutation_p.Q1265*|SETD5_ENST00000402198.1_Nonsense_Mutation_p.Q1363*			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1363	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTCAGTTTCTCAGTCCAGCAC	0.552																																						uc003brt.2		NA																	0				ovary(2)	2						c.(4087-4089)CAG>TAG		SET domain containing 5							72.0	72.0	72.0					3																	9517533		2125	4243	6368	SO:0001587	stop_gained	55209							g.chr3:9517533C>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.4087C>T	3.37:g.9517533C>T	ENSP00000383939:p.Gln1363*					SETD5_uc003bru.2_Nonsense_Mutation_p.Q1265*|SETD5_uc003brv.2_Nonsense_Mutation_p.Q1252*|SETD5_uc010hck.2_Nonsense_Mutation_p.Q845*|SETD5_uc003brx.2_Nonsense_Mutation_p.Q1032*	p.Q1363*	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	23	4522	+	Medulloblastoma(99;0.227)		1363			Ser-rich.		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Nonsense_Mutation	SNP	ENST00000406341.1	37	c.4087C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	46	12.703006	0.99689	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	.	.	.	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-9.0858	13.1638	0.59558	0.0:0.9228:0.0:0.0772	.	.	.	.	X	1363;1265;1363;1382;1265	.	ENSP00000302028:Q1265X	Q	+	1	0	SETD5	9492533	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.553000	0.67287	2.500000	0.84329	0.467000	0.42956	CAG		0.552	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		19	22	0	0	0	0	19	22				
CRELD1	78987	broad.mit.edu	37	3	9979762	9979762	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:9979762C>T	ENST00000383811.3	+	4	1031	c.432C>T	c.(430-432)ccC>ccT	p.P144P	CRELD1_ENST00000397170.3_Silent_p.P144P|CRELD1_ENST00000326434.5_Silent_p.P144P|RP11-1020A11.1_ENST00000602411.1_RNA|CRELD1_ENST00000452070.1_Silent_p.P144P	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	144					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TCTGCTGCCCCGCAGGCACCT	0.652																																						uc003bug.2		NA																	0				ovary(1)	1						c.(430-432)CCC>CCT		cysteine-rich with EGF-like domains 1 isoform 3							41.0	42.0	41.0					3																	9979762		2203	4300	6503	SO:0001819	synonymous_variant	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9979762C>T	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.432C>T	3.37:g.9979762C>T						CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Silent_p.P144P|CRELD1_uc003buh.2_Silent_p.P144P|CRELD1_uc003bui.2_Silent_p.P144P|CRELD1_uc003buj.2_RNA	p.P144P	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN			5	550	+			144			Extracellular (Potential).		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Silent	SNP	ENST00000383811.3	37	c.432C>T	CCDS2593.1																																																																																				0.652	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		5	20	0	0	0	0	5	20				
METTL6	131965	broad.mit.edu	37	3	15467880	15467880	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:15467880G>C	ENST00000443029.1	-	2	379	c.139C>G	c.(139-141)Ctt>Gtt	p.L47V	METTL6_ENST00000450816.2_Missense_Mutation_p.L47V|EAF1_ENST00000396842.2_5'Flank|EAF1_ENST00000432764.2_5'Flank|METTL6_ENST00000383789.5_Missense_Mutation_p.L47V|METTL6_ENST00000383790.3_Missense_Mutation_p.L47V			Q8TCB7	METL6_HUMAN	methyltransferase like 6	47							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TTGTAAAAAAGATCCCAATTT	0.373																																						uc003bzs.1		NA																	0					0						c.(139-141)CTT>GTT		methyltransferase like 6							134.0	124.0	127.0					3																	15467880		1824	4088	5912	SO:0001583	missense	131965						methyltransferase activity	g.chr3:15467880G>C	AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562			28343	protein-coding gene	gene with protein product						12477932	Standard	NM_152396		Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000443029.1:c.139C>G	3.37:g.15467880G>C	ENSP00000407613:p.Leu47Val					METTL6_uc011avp.1_Missense_Mutation_p.L47V|METTL6_uc003bzt.1_Missense_Mutation_p.L47V|EAF1_uc003bzu.2_5'Flank|EAF1_uc011avq.1_5'Flank	p.L47V	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN			2	397	-			47					Q96LU4	Missense_Mutation	SNP	ENST00000443029.1	37	c.139C>G	CCDS43056.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118728	0.37436	.	.	ENSG00000206562	ENST00000383790;ENST00000450816;ENST00000383789	T;T;T	0.65916	-0.18;-0.18;-0.18	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.73521	0.3597	L	0.60957	1.885	0.49687	D	0.999817	D;B;P	0.59767	0.986;0.198;0.609	D;B;B	0.67103	0.949;0.237;0.119	T	0.73864	-0.3848	10	0.49607	T	0.09	-15.2218	13.0451	0.58922	0.0783:0.0:0.9217:0.0	.	47;47;47	B4DDX3;Q8TCB7-2;Q8TCB7	.;.;METL6_HUMAN	V	47	ENSP00000373300:L47V;ENSP00000410726:L47V;ENSP00000373299:L47V	ENSP00000373299:L47V	L	-	1	0	METTL6	15442884	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	4.537000	0.60643	2.503000	0.84419	0.555000	0.69702	CTT		0.373	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	NM_152396		14	43	0	0	0	0	14	43				
EFHB	151651	broad.mit.edu	37	3	19924047	19924047	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:19924047C>G	ENST00000295824.9	-	12	2484	c.2323G>C	c.(2323-2325)Gaa>Caa	p.E775Q	EFHB_ENST00000344838.4_Missense_Mutation_p.E645Q	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	775							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TATACCTCTTCTTTTGATCTG	0.299																																						uc003cbl.3		NA																	0					0						c.(2323-2325)GAA>CAA		EF hand domain family, member B							36.0	33.0	34.0					3																	19924047		2203	4300	6503	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19924047C>G	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2323G>C	3.37:g.19924047C>G	ENSP00000295824:p.Glu775Gln					EFHB_uc003cbm.2_Missense_Mutation_p.E645Q	p.E775Q	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN			12	2519	-			775					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.2323G>C	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	C	4.263	0.047836	0.08243	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.25912	3.0;1.77	5.55	1.35	0.21983	.	0.472817	0.22930	N	0.053915	T	0.14227	0.0344	L	0.33485	1.01	0.33075	D	0.535898	B;B	0.23806	0.091;0.069	B;B	0.15052	0.012;0.012	T	0.17623	-1.0363	9	.	.	.	-10.1643	4.3461	0.11133	0.0:0.3937:0.3188:0.2875	.	645;775	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	Q	775;645	ENSP00000295824:E775Q;ENSP00000342263:E645Q	.	E	-	1	0	EFHB	19899051	0.983000	0.35010	0.550000	0.28217	0.077000	0.17291	1.399000	0.34566	0.017000	0.15025	-0.150000	0.13652	GAA		0.299	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		3	9	0	0	0	0	3	9				
TGFBR2	7048	broad.mit.edu	37	3	30691947	30691947	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:30691947C>G	ENST00000295754.5	+	3	831	c.449C>G	c.(448-450)tCa>tGa	p.S150*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S175*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	150					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATCATCTTCTCAGAAGGTGAG	0.433																																						uc003ceo.2		NA																	0				pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						c.(448-450)TCA>TGA		transforming growth factor, beta receptor II							109.0	100.0	103.0					3																	30691947		2203	4300	6503	SO:0001587	stop_gained	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30691947C>G		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.449C>G	3.37:g.30691947C>G	ENSP00000295754:p.Ser150*					TGFBR2_uc003cen.2_Nonsense_Mutation_p.S175*	p.S150*	NM_003242	NP_003233	P37173	TGFR2_HUMAN			3	831	+			150			Extracellular (Potential).		B4DTV5|Q15580|Q6DKT6|Q99474	Nonsense_Mutation	SNP	ENST00000295754.5	37	c.449C>G	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	40	8.506241	0.98841	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000383765;ENST00000439925	.	.	.	5.97	5.09	0.68999	.	0.571104	0.19372	N	0.115863	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	10.1189	0.42607	0.1376:0.7943:0.0:0.0681	.	.	.	.	X	150;175;16;16	.	ENSP00000295754:S150X	S	+	2	0	TGFBR2	30666951	0.931000	0.31567	0.854000	0.33618	0.992000	0.81027	3.594000	0.54008	1.511000	0.48818	0.655000	0.94253	TCA		0.433	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			17	42	0	0	0	0	17	42				
TRANK1	9881	broad.mit.edu	37	3	36897603	36897603	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:36897603C>G	ENST00000429976.2	-	12	3725	c.3478G>C	c.(3478-3480)Gag>Cag	p.E1160Q	TRANK1_ENST00000428977.2_Missense_Mutation_p.E610Q|TRANK1_ENST00000301807.6_Missense_Mutation_p.E610Q	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1160							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTTGTACCTCCTGGCACAGC	0.502																																						uc003cgj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1828-1830)GAG>CAG		lupus brain antigen 1							146.0	147.0	147.0					3																	36897603		2021	4190	6211	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897603C>G	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3478G>C	3.37:g.36897603C>G	ENSP00000416168:p.Glu1160Gln						p.E610Q	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	2130	-			1160					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.1828G>C	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560558	0.65538	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.81996	-1.56;-1.56;-1.56	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000012	D	0.87261	0.6133	L	0.43923	1.385	0.50632	D	0.999885	P	0.50272	0.933	P	0.59288	0.855	D	0.87352	0.2338	10	0.56958	D	0.05	.	19.473	0.94971	0.0:1.0:0.0:0.0	.	1160	O15050	TRNK1_HUMAN	Q	610;1160;610	ENSP00000416826:E610Q;ENSP00000416168:E1160Q;ENSP00000301807:E610Q	ENSP00000301807:E610Q	E	-	1	0	TRANK1	36872607	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.025000	0.70864	2.688000	0.91661	0.561000	0.74099	GAG		0.502	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		8	117	0	0	0	0	8	117				
XIRP1	165904	broad.mit.edu	37	3	39228635	39228635	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:39228635C>T	ENST00000340369.3	-	2	2530	c.2302G>A	c.(2302-2304)Gag>Aag	p.E768K	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.E768K	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	768					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCTGCAGTCTCCTGGCTCTCT	0.642																																						uc003cjk.1		NA																	0				ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(2302-2304)GAG>AAG		xin actin-binding repeat containing 1							60.0	57.0	58.0					3																	39228635		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39228635C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2302G>A	3.37:g.39228635C>T	ENSP00000343140:p.Glu768Lys					XIRP1_uc003cji.2_Missense_Mutation_p.E768K|XIRP1_uc003cjj.2_Intron	p.E768K	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	2523	-			768					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.2302G>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	5.767	0.325872	0.10900	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.07327	3.2;3.5	4.11	0.137	0.14787	.	0.055459	0.64402	D	0.000001	T	0.06234	0.0161	L	0.43701	1.375	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.11329	0.001;0.006	T	0.31752	-0.9932	10	0.33940	T	0.23	.	4.7561	0.13085	0.0:0.4572:0.3423:0.2004	.	768;768	Q702N8;Q702N8-2	XIRP1_HUMAN;.	K	768	ENSP00000379550:E768K;ENSP00000343140:E768K	ENSP00000343140:E768K	E	-	1	0	XIRP1	39203639	.	.	0.822000	0.32727	0.124000	0.20399	.	.	-0.081000	0.12662	0.563000	0.77884	GAG		0.642	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		11	28	0	0	0	0	11	28				
NKTR	4820	broad.mit.edu	37	3	42680839	42680839	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:42680839G>C	ENST00000232978.8	+	13	3831	c.3643G>C	c.(3643-3645)Gag>Cag	p.E1215Q	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1215					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GGAGGTGGCTGAGAAGAGCCA	0.527																																						uc003clo.2		NA																	0				ovary(2)|skin(1)	3						c.(3643-3645)GAG>CAG		natural killer-tumor recognition sequence							98.0	101.0	100.0					3																	42680839		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680839G>C		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3643G>C	3.37:g.42680839G>C	ENSP00000232978:p.Glu1215Gln					NKTR_uc003clm.1_Missense_Mutation_p.E962Q|NKTR_uc003clp.2_Missense_Mutation_p.E962Q|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.E1105Q|NKTR_uc003clr.1_Missense_Mutation_p.E962Q|NKTR_uc003cls.2_Missense_Mutation_p.E915Q	p.E1215Q	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3790	+			1215						Missense_Mutation	SNP	ENST00000232978.8	37	c.3643G>C	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242236	0.58995	.	.	ENSG00000114857	ENST00000232978	D	0.82526	-1.62	5.22	5.22	0.72569	.	0.456048	0.23429	N	0.048278	D	0.90041	0.6890	M	0.85197	2.74	0.80722	D	1	D;B	0.59357	0.985;0.177	P;B	0.55391	0.775;0.057	D	0.90875	0.4749	10	0.52906	T	0.07	-6.1245	17.3184	0.87230	0.0:0.0:1.0:0.0	.	915;1215	Q6M1B8;P30414	.;NKTR_HUMAN	Q	1215	ENSP00000232978:E1215Q	ENSP00000232978:E1215Q	E	+	1	0	NKTR	42655843	0.882000	0.30256	0.829000	0.32907	0.984000	0.73092	3.828000	0.55753	2.594000	0.87642	0.563000	0.77884	GAG		0.527	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		21	43	0	0	0	0	21	43				
NKTR	4820	broad.mit.edu	37	3	42680982	42680982	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:42680982G>C	ENST00000232978.8	+	13	3974	c.3786G>C	c.(3784-3786)ttG>ttC	p.L1262F	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1262					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CACAAGGCTTGAGAATAGAAA	0.453																																						uc003clo.2		NA																	0				ovary(2)|skin(1)	3						c.(3784-3786)TTG>TTC		natural killer-tumor recognition sequence							91.0	96.0	95.0					3																	42680982		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680982G>C		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3786G>C	3.37:g.42680982G>C	ENSP00000232978:p.Leu1262Phe					NKTR_uc003clm.1_Missense_Mutation_p.L1009F|NKTR_uc003clp.2_Missense_Mutation_p.L1009F|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.L1152F|NKTR_uc003clr.1_Missense_Mutation_p.L1009F|NKTR_uc003cls.2_Missense_Mutation_p.L962F	p.L1262F	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3933	+			1262						Missense_Mutation	SNP	ENST00000232978.8	37	c.3786G>C	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695007	0.48202	.	.	ENSG00000114857	ENST00000232978	T	0.18016	2.24	5.35	4.48	0.54585	.	0.071705	0.56097	D	0.000028	T	0.42245	0.1194	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.963	T	0.40590	-0.9555	10	0.87932	D	0	-6.4641	9.4661	0.38813	0.2071:0.0:0.7929:0.0	.	962;1262	Q6M1B8;P30414	.;NKTR_HUMAN	F	1262	ENSP00000232978:L1262F	ENSP00000232978:L1262F	L	+	3	2	NKTR	42655986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.630000	0.24553	1.388000	0.46506	0.655000	0.94253	TTG		0.453	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		27	42	0	0	0	0	27	42				
PRKAR2A	5576	broad.mit.edu	37	3	48789027	48789027	+	Silent	SNP	G	G	A	rs143784793		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:48789027G>A	ENST00000265563.8	-	11	1455	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	PRKAR2A_ENST00000454963.1_Silent_p.L402L|PRKAR2A_ENST00000296446.8_Silent_p.L380L	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	402					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|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)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		CCTACTGCCCGAGGTTGCCCA	0.522													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18733	0.0		0.0	False		,,,				2504	0.0					uc010hki.1		NA																	0				ovary(1)	1						c.(1204-1206)CTC>CTT		cAMP-dependent protein kinase, regulatory		G		0,4406		0,0,2203	77.0	68.0	71.0		1206	-10.3	0.4	3	dbSNP_134	71	3,8597	3.7+/-12.6	0,3,4297	no	coding-synonymous	PRKAR2A	NM_004157.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		402/405	48789027	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5576				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr3:48789027G>A		CCDS2778.1	3p21.3-p21.2	2009-07-10			ENSG00000114302	ENSG00000114302	2.7.11.1		9391	protein-coding gene	gene with protein product		176910		PRKAR2		9676433	Standard	NM_004157		Approved		uc003cux.1	P13861	OTTHUMG00000133540	ENST00000265563.8:c.1206C>T	3.37:g.48789027G>A						PRKAR2A_uc003cux.1_Silent_p.L402L|PRKAR2A_uc003cuy.1_Silent_p.L380L	p.L402L	NM_004157	NP_004148	P13861	KAP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)	11	1447	-			402			cAMP 2.		Q16823|Q9BUB1	Silent	SNP	ENST00000265563.8	37	c.1206C>T	CCDS2778.1	.	.	.	.	.	.	.	.	.	.	G	2.997	-0.206975	0.06180	0.0	3.49E-4	ENSG00000114302	ENST00000457914	.	.	.	6.17	-10.3	0.00346	.	.	.	.	.	T	0.48589	0.1508	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.60757	-0.7200	4	.	.	.	0.9602	11.0767	0.48036	0.116:0.0:0.6207:0.2633	.	.	.	.	W	90	.	.	R	-	1	2	PRKAR2A	48764031	0.016000	0.18221	0.412000	0.26496	0.514000	0.34195	-0.889000	0.04144	-1.543000	0.01723	-0.768000	0.03414	CGG		0.522	PRKAR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257518.1			13	14	0	0	0	0	13	14				
BSN	8927	broad.mit.edu	37	3	49702266	49702266	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:49702266C>T	ENST00000296452.4	+	10	11889	c.11775C>T	c.(11773-11775)ttC>ttT	p.F3925F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3925				F -> L (in Ref. 1; AAC83555). {ECO:0000305}.	synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TTTCCTCATTCTGGTGACCAT	0.557																																						uc003cxe.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(11773-11775)TTC>TTT		bassoon protein							133.0	131.0	132.0					3																	49702266		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49702266C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.11775C>T	3.37:g.49702266C>T							p.F3925F	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	10	11889	+			3925	F -> L (in Ref. 1; AAC83555).				O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.11775C>T	CCDS2800.1																																																																																				0.557	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		30	69	0	0	0	0	30	69				
DNAH1	25981	broad.mit.edu	37	3	52382931	52382931	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:52382931G>A	ENST00000420323.2	+	13	2395	c.2134G>A	c.(2134-2136)Ggt>Agt	p.G712S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	712	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTTCATCAGCGGTGACCCCCT	0.617																																						uc011bef.1		NA																	0				large_intestine(3)	3						c.(2134-2136)GGT>AGT		dynein, axonemal, heavy chain 1							93.0	100.0	98.0					3																	52382931		2159	4261	6420	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52382931G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.2134G>A	3.37:g.52382931G>A	ENSP00000401514:p.Gly712Ser					DNAH1_uc003ddt.1_Missense_Mutation_p.G712S	p.G712S	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	13	2395	+			712			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.2134G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201291	0.58234	.	.	ENSG00000114841	ENST00000420323	T	0.21734	1.99	5.24	5.24	0.73138	.	0.000000	0.51477	D	0.000087	T	0.22126	0.0533	M	0.66939	2.045	0.58432	D	0.999998	P;P	0.45986	0.454;0.87	B;B	0.38264	0.029;0.269	T	0.17289	-1.0374	10	0.05721	T	0.95	.	18.842	0.92188	0.0:0.0:1.0:0.0	.	712;712	C9JXH6;Q9P2D7-3	.;.	S	712	ENSP00000401514:G712S	ENSP00000401514:G712S	G	+	1	0	DNAH1	52357971	1.000000	0.71417	0.957000	0.39632	0.993000	0.82548	6.930000	0.75858	2.454000	0.82982	0.655000	0.94253	GGT		0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		6	78	0	0	0	0	6	78				
OR5H15	403274	broad.mit.edu	37	3	97887885	97887885	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:97887885C>G	ENST00000356526.2	+	1	342	c.342C>G	c.(340-342)ctC>ctG	p.L114L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	114						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(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						AATGTTTTCTCTTGGCAACAA	0.378																																						uc011bgu.1		NA																	0				ovary(1)|skin(1)	2						c.(340-342)CTC>CTG		olfactory receptor, family 5, subfamily H,							109.0	107.0	108.0					3																	97887885		2203	4298	6501	SO:0001819	synonymous_variant	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887885C>G		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.342C>G	3.37:g.97887885C>G							p.L114L	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	342	+			114			Helical; Name=3; (Potential).			Silent	SNP	ENST00000356526.2	37	c.342C>G	CCDS33799.1																																																																																				0.378	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			35	122	0	0	0	0	35	122				
DCBLD2	131566	broad.mit.edu	37	3	98518364	98518364	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:98518364G>A	ENST00000326840.6	-	16	2542	c.2180C>T	c.(2179-2181)tCa>tTa	p.S727L	DCBLD2_ENST00000326857.9_Missense_Mutation_p.S741L	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	727					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GGCCTGGGCTGAGGAGCAGCT	0.557																																						uc003dtd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2179-2181)TCA>TTA		discoidin, CUB and LCCL domain containing 2							186.0	187.0	187.0					3																	98518364		1971	4163	6134	SO:0001583	missense	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98518364G>A		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.2180C>T	3.37:g.98518364G>A	ENSP00000321573:p.Ser727Leu					DCBLD2_uc003dte.2_Missense_Mutation_p.S741L	p.S727L	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN			16	2543	-			727			Cytoplasmic (Potential).		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	c.2180C>T	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.639347	0.87760	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	T;T	0.36520	1.25;1.25	6.02	5.14	0.70334	.	0.140730	0.49916	D	0.000133	T	0.32941	0.0846	L	0.52364	1.645	0.58432	D	0.999999	P;P	0.43662	0.814;0.666	B;B	0.38156	0.266;0.072	T	0.12218	-1.0556	10	0.52906	T	0.07	-19.6775	13.4289	0.61042	0.077:0.0:0.923:0.0	.	741;727	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	L	727;741	ENSP00000321573:S727L;ENSP00000321646:S741L	ENSP00000321573:S727L	S	-	2	0	DCBLD2	100001054	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	6.813000	0.75231	2.865000	0.98341	0.655000	0.94253	TCA		0.557	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		68	233	0	0	0	0	68	233				
FILIP1L	11259	broad.mit.edu	37	3	99649833	99649833	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:99649833G>A	ENST00000354552.3	-	2	502	c.32C>T	c.(31-33)tCa>tTa	p.S11L	CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.S11L|FILIP1L_ENST00000398326.2_Missense_Mutation_p.S11L	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	11						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTTTTGGGCTGAGCCCTCGGT	0.433																																						uc003dtm.2		NA																	0				ovary(1)	1						c.(31-33)TCA>TTA		filamin A interacting protein 1-like isoform 1							152.0	137.0	142.0					3																	99649833		1885	4114	5999	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99649833G>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.32C>T	3.37:g.99649833G>A	ENSP00000346560:p.Ser11Leu					C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.S11L|uc003dtq.2_5'Flank	p.S11L	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN			2	495	-			11					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.32C>T	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	8.559	0.877245	0.17395	.	.	ENSG00000168386	ENST00000354552;ENST00000331335;ENST00000398326	T;T;T	0.18810	2.19;2.19;2.64	5.72	2.47	0.30058	.	1.340080	0.05558	N	0.568768	T	0.15696	0.0378	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.31503	-0.9941	10	0.37606	T	0.19	-2.1727	12.5016	0.55957	0.2155:0.0:0.7845:0.0	.	11;11	Q4L180-2;Q4L180	.;FIL1L_HUMAN	L	11	ENSP00000346560:S11L;ENSP00000327880:S11L;ENSP00000381371:S11L	ENSP00000327880:S11L	S	-	2	0	FILIP1L	101132523	0.999000	0.42202	0.707000	0.30419	0.261000	0.26267	1.632000	0.37102	0.744000	0.32741	0.591000	0.81541	TCA		0.433	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		9	44	0	0	0	0	9	44				
CMSS1	84319	broad.mit.edu	37	3	99881149	99881149	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:99881149G>A	ENST00000421999.2	+	4	374	c.228G>A	c.(226-228)aaG>aaA	p.K76K	CMSS1_ENST00000489081.1_Silent_p.K58K	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	76							poly(A) RNA binding (GO:0044822)										TATCTTAGAAGAAAATTACTG	0.383																																						uc003dtl.2		NA																	0				skin(1)	1						c.(226-228)AAG>AAA		hypothetical protein LOC84319							57.0	60.0	59.0					3																	99881149		2203	4300	6503	SO:0001819	synonymous_variant	84319						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr3:99881149G>A		CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.228G>A	3.37:g.99881149G>A							p.K76K	NM_032359	NP_115735	Q9BQ75	CC026_HUMAN			4	371	+			76					A8K5S7|B4DUM1|E9PHS3	Silent	SNP	ENST00000421999.2	37	c.228G>A	CCDS2935.1																																																																																				0.383	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353060.1	NM_032359		6	51	0	0	0	0	6	51				
NFKBIZ	64332	broad.mit.edu	37	3	101572517	101572517	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:101572517G>A	ENST00000326172.5	+	5	1262	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.E261K|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.E283K	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	383	Required for transcriptional activity. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAGCGCCTGTGAGGCCATGGT	0.493																																						uc003dvp.2		NA																	0				ovary(2)	2						c.(1147-1149)GAG>AAG		nuclear factor of kappa light polypeptide gene							90.0	92.0	91.0					3																	101572517		2203	4300	6503	SO:0001583	missense	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101572517G>A	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1147G>A	3.37:g.101572517G>A	ENSP00000325663:p.Glu383Lys					NFKBIZ_uc003dvo.2_Missense_Mutation_p.E283K|NFKBIZ_uc010hpo.2_Missense_Mutation_p.E283K|NFKBIZ_uc003dvq.2_Missense_Mutation_p.E261K	p.E383K	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN			5	1262	+			383			Required for transcriptional activity (By similarity).		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	c.1147G>A	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.266909	0.23136	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.55588	0.54;0.51;0.59;0.61	5.65	4.77	0.60923	.	0.474802	0.22576	N	0.058275	T	0.47600	0.1454	L	0.60455	1.87	0.28774	N	0.900228	B;B	0.28933	0.228;0.02	B;B	0.30855	0.121;0.01	T	0.50558	-0.8814	10	0.49607	T	0.09	-0.0571	8.0887	0.30788	0.123:0.1581:0.7189:0.0	.	261;383	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	K	283;283;261;383	ENSP00000419800:E283K;ENSP00000377618:E283K;ENSP00000325593:E261K;ENSP00000325663:E383K	ENSP00000325593:E261K	E	+	1	0	NFKBIZ	103055207	0.017000	0.18338	1.000000	0.80357	0.043000	0.13939	0.997000	0.29731	1.491000	0.48482	0.563000	0.77884	GAG		0.493	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		21	124	0	0	0	0	21	124				
CCDC80	151887	broad.mit.edu	37	3	112358405	112358405	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:112358405C>T	ENST00000206423.3	-	2	1301	c.348G>A	c.(346-348)gaG>gaA	p.E116E	CCDC80_ENST00000439685.2_Silent_p.E116E|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	116					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTCTGATCATCTCACGCGGAG	0.602																																						uc003dzf.2		NA																	0				ovary(2)	2						c.(346-348)GAG>GAA		steroid-sensitive protein 1 precursor							84.0	80.0	81.0					3																	112358405		2203	4300	6503	SO:0001819	synonymous_variant	151887							g.chr3:112358405C>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.348G>A	3.37:g.112358405C>T						CCDC80_uc011bhv.1_Silent_p.E116E|CCDC80_uc003dzg.2_Silent_p.E116E|CCDC80_uc003dzh.1_Silent_p.E116E	p.E116E	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			2	566	-			116					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	37	c.348G>A	CCDS2968.1																																																																																				0.602	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		27	108	0	0	0	0	27	108				
KIAA1407	57577	broad.mit.edu	37	3	113753906	113753906	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:113753906C>G	ENST00000295878.3	-	6	830	c.684G>C	c.(682-684)caG>caC	p.Q228H	KIAA1407_ENST00000545063.1_Missense_Mutation_p.Q59H	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	228										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCACCAGACACTGAGCCTCCA	0.448																																						uc003eax.2		NA																	0				ovary(2)	2						c.(682-684)CAG>CAC		hypothetical protein LOC57577							149.0	145.0	146.0					3																	113753906		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113753906C>G	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.684G>C	3.37:g.113753906C>G	ENSP00000295878:p.Gln228His					KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.Q206H|KIAA1407_uc011bip.1_Missense_Mutation_p.Q215H	p.Q228H	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN			6	831	-			228			Potential.		B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.684G>C	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676486	0.47886	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000;ENST00000483766	T;T;T	0.51817	1.33;0.69;0.69	5.78	3.0	0.34707	.	0.340529	0.33075	N	0.005306	T	0.47637	0.1456	M	0.67953	2.075	0.80722	D	1	B;P;B	0.39759	0.102;0.687;0.102	B;B;B	0.42555	0.063;0.391;0.063	T	0.43458	-0.9390	10	0.66056	D	0.02	.	8.5501	0.33447	0.1254:0.7453:0.0:0.1293	.	215;104;228	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	H	228;59;215;192	ENSP00000295878:Q228H;ENSP00000446381:Q59H;ENSP00000418099:Q215H	ENSP00000295878:Q228H	Q	-	3	2	KIAA1407	115236596	0.964000	0.33143	0.986000	0.45419	0.972000	0.66771	1.712000	0.37940	0.348000	0.23949	-0.781000	0.03364	CAG		0.448	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		21	120	0	0	0	0	21	120				
GTF2E1	2960	broad.mit.edu	37	3	120499990	120499990	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:120499990G>C	ENST00000283875.5	+	5	1086	c.993G>C	c.(991-993)aaG>aaC	p.K331N		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	331					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ACGAGAAAAAGACTTCCTCTG	0.547																																						uc003edz.3		NA																	0				ovary(1)	1						c.(991-993)AAG>AAC		general transcription factor IIE, polypeptide 1,							77.0	79.0	78.0					3																	120499990		2203	4300	6503	SO:0001583	missense	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120499990G>C	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.993G>C	3.37:g.120499990G>C	ENSP00000283875:p.Lys331Asn						p.K331N	NM_005513	NP_005504	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	5	1107	+			331					Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	c.993G>C	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323005	0.41096	.	.	ENSG00000153767	ENST00000283875	T	0.47177	0.85	5.39	2.58	0.30949	.	0.091157	0.85682	N	0.000000	T	0.52092	0.1713	M	0.76002	2.32	0.46149	D	0.998895	P	0.52842	0.956	P	0.50754	0.649	T	0.46952	-0.9154	10	0.30854	T	0.27	-2.4908	7.9605	0.30068	0.1451:0.1323:0.7227:0.0	.	331	P29083	T2EA_HUMAN	N	331	ENSP00000283875:K331N	ENSP00000283875:K331N	K	+	3	2	GTF2E1	121982680	1.000000	0.71417	0.996000	0.52242	0.232000	0.25224	2.317000	0.43770	0.384000	0.24942	-0.142000	0.14014	AAG		0.547	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		9	63	0	0	0	0	9	63				
KPNA1	3836	broad.mit.edu	37	3	122170899	122170899	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:122170899G>C	ENST00000344337.6	-	7	753	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	193	NLS binding site (major). {ECO:0000250}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		ATGTTGCCAAGAGCCCAGACT	0.398																																					Melanoma(12;340 801 11196 19797)	uc003efd.1		NA																	0					0						c.(577-579)CTT>GTT		karyopherin alpha 1							174.0	178.0	176.0					3																	122170899		2203	4300	6503	SO:0001583	missense	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122170899G>C	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.577C>G	3.37:g.122170899G>C	ENSP00000343701:p.Leu193Val					KPNA1_uc003efb.1_5'UTR|KPNA1_uc003efc.1_5'UTR|KPNA1_uc011bjr.1_5'UTR|KPNA1_uc010hrh.2_5'UTR|KPNA1_uc003efe.2_Missense_Mutation_p.L193V	p.L193V	NM_002264	NP_002255	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	7	613	-			193			ARM 3.|NLS binding site (major) (By similarity).		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	c.577C>G	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717582	0.68844	.	.	ENSG00000114030	ENST00000344337;ENST00000465882;ENST00000482287;ENST00000476916	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	4.44	4.44	0.53790	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.92319	0.7563	M	0.86178	2.8	0.80722	D	1	D	0.61080	0.989	D	0.65140	0.932	D	0.93760	0.7066	10	0.87932	D	0	-9.0181	16.2297	0.82323	0.0:0.0:1.0:0.0	.	193	P52294	IMA1_HUMAN	V	193;193;193;149	ENSP00000343701:L193V;ENSP00000419890:L193V;ENSP00000417166:L193V;ENSP00000417319:L149V	ENSP00000343701:L193V	L	-	1	0	KPNA1	123653589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.969000	0.70422	2.301000	0.77427	0.585000	0.79938	CTT		0.398	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		42	176	0	0	0	0	42	176				
ALDH1L1	10840	broad.mit.edu	37	3	125879726	125879726	+	Missense_Mutation	SNP	G	G	C	rs372611218		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:125879726G>C	ENST00000393434.2	-	2	446	c.97C>G	c.(97-99)Cca>Gca	p.P33A	ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.P33A|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.P33A|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.P43A|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.P33A|U1_ENST00000606575.1_RNA	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	33	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCTTGTCTGGAACAGTGAAC	0.572																																						uc003eim.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(97-99)CCA>GCA		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						135.0	124.0	128.0					3																	125879726		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125879726G>C	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.97C>G	3.37:g.125879726G>C	ENSP00000377083:p.Pro33Ala					ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.P33A|ALDH1L1_uc010hsf.1_5'UTR|ALDH1L1_uc003eip.1_5'Flank|ALDH1L1_uc011bkj.1_5'UTR	p.P33A	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	2	287	-			33			GART.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.97C>G	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148615	0.78001	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431;ENST00000490367;ENST00000460368;ENST00000488356;ENST00000509952	T;T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	4.76	4.76	0.60689	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87124	0.6099	M	0.75085	2.285	0.80722	D	1	D;P	0.89917	1.0;0.857	D;P	0.87578	0.998;0.776	D	0.87571	0.2478	10	0.51188	T	0.08	.	15.3094	0.74019	0.0:0.0:1.0:0.0	.	33;33	E9PBX3;O75891	.;AL1L1_HUMAN	A	43;33;33;33;33;33;33;33;33	ENSP00000273450:P43A;ENSP00000420293:P33A;ENSP00000395881:P33A;ENSP00000377083:P33A;ENSP00000377081:P33A;ENSP00000418711:P33A;ENSP00000419826:P33A;ENSP00000419955:P33A;ENSP00000426594:P33A	ENSP00000273450:P43A	P	-	1	0	ALDH1L1	127362416	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.327000	0.96396	2.466000	0.83321	0.467000	0.42956	CCA		0.572	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		15	117	0	0	0	0	15	117				
MCM2	4171	broad.mit.edu	37	3	127327234	127327234	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:127327234C>T	ENST00000265056.7	+	7	1355	c.1111C>T	c.(1111-1113)Cag>Tag	p.Q371*		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	371					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GACCATCTATCAGAACTACCA	0.572																																						uc003ejp.2		NA																	0				ovary(3)|skin(1)	4						c.(1111-1113)CAG>TAG		minichromosome maintenance complex component 2							156.0	160.0	158.0					3																	127327234		2203	4300	6503	SO:0001587	stop_gained	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127327234C>T	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1111C>T	3.37:g.127327234C>T	ENSP00000265056:p.Gln371*					MCM2_uc011bkm.1_Nonsense_Mutation_p.Q241*|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Nonsense_Mutation_p.Q255*	p.Q371*	NM_004526	NP_004517	P49736	MCM2_HUMAN			7	1168	+			371					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Nonsense_Mutation	SNP	ENST00000265056.7	37	c.1111C>T	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	41	8.612573	0.98886	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	.	.	.	5.31	5.31	0.75309	.	0.221644	0.48767	D	0.000166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-32.6952	18.9654	0.92694	0.0:1.0:0.0:0.0	.	.	.	.	X	371;275;352	.	ENSP00000265056:Q371X	Q	+	1	0	MCM2	128809924	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.303000	0.78871	2.476000	0.83614	0.591000	0.81541	CAG		0.572	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			68	229	0	0	0	0	68	229				
TMEM108	66000	broad.mit.edu	37	3	133109176	133109176	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:133109176G>A	ENST00000321871.6	+	5	1813	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	TMEM108_ENST00000508711.1_Missense_Mutation_p.E65K|TMEM108_ENST00000393130.3_Missense_Mutation_p.E535K	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	535						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGAAACCTCTGAGGTAATGAG	0.532																																						uc003eph.2		NA																	0				ovary(2)|skin(2)	4						c.(1603-1605)GAG>AAG		transmembrane protein 108 precursor							206.0	200.0	202.0					3																	133109176		2203	4300	6503	SO:0001583	missense	66000					integral to membrane		g.chr3:133109176G>A	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1603G>A	3.37:g.133109176G>A	ENSP00000324651:p.Glu535Lys					TMEM108_uc003epi.2_Missense_Mutation_p.E535K|TMEM108_uc003epk.2_Missense_Mutation_p.E65K|TMEM108_uc003epm.2_Missense_Mutation_p.E486K	p.E535K	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN			5	1877	+			535			Cytoplasmic (Potential).		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.1603G>A	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212274	0.58452	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000508711	T;T	0.67345	-0.26;-0.26	5.14	4.25	0.50352	.	0.302594	0.25283	N	0.031790	T	0.78104	0.4231	M	0.68952	2.095	0.80722	D	1	P;D	0.61697	0.865;0.99	P;P	0.61940	0.452;0.896	T	0.80334	-0.1426	10	0.66056	D	0.02	-14.7874	14.8464	0.70264	0.0:0.0:0.8549:0.1451	.	65;535	B3KT64;Q6UXF1	.;TM108_HUMAN	K	535;535;65	ENSP00000324651:E535K;ENSP00000376838:E535K	ENSP00000324651:E535K	E	+	1	0	TMEM108	134591866	1.000000	0.71417	0.923000	0.36655	0.699000	0.40488	9.025000	0.93694	1.125000	0.41998	0.655000	0.94253	GAG		0.532	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		43	227	0	0	0	0	43	227				
TRPC1	7220	broad.mit.edu	37	3	142443489	142443489	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:142443489G>A	ENST00000476941.1	+	1	574	c.88G>A	c.(88-90)Gag>Aag	p.E30K	TRPC1_ENST00000273482.6_Missense_Mutation_p.E30K	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	30					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ctcGCCGAACGAGGTGATGGC	0.617																																						uc003evc.2		NA																	0				ovary(2)	2						c.(88-90)GAG>AAG		transient receptor potential cation channel,							112.0	100.0	104.0					3																	142443489		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142443489G>A	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.88G>A	3.37:g.142443489G>A	ENSP00000419313:p.Glu30Lys					TRPC1_uc003evb.2_Missense_Mutation_p.E30K	p.E30K	NM_003304	NP_003295	P48995	TRPC1_HUMAN			1	224	+			30			Cytoplasmic (Potential).		Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.88G>A	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909862	0.52439	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.78126	-0.86;-1.15	4.58	2.34	0.29019	.	0.217162	0.45867	D	0.000324	T	0.49372	0.1553	N	0.08118	0	0.41209	D	0.986423	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27872	-1.0061	10	0.10377	T	0.69	-2.9724	4.1127	0.10067	0.4428:0.0:0.5572:0.0	.	30;30	P48995;P48995-2	TRPC1_HUMAN;.	K	30	ENSP00000419313:E30K;ENSP00000273482:E30K	ENSP00000273482:E30K	E	+	1	0	TRPC1	143926179	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.947000	0.49058	1.061000	0.40601	0.603000	0.83216	GAG		0.617	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		12	65	0	0	0	0	12	65				
SERP1	27230	broad.mit.edu	37	3	150321201	150321201	+	5'Flank	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:150321201G>C	ENST00000479209.1	-	0	0				SELT_ENST00000471696.1_Missense_Mutation_p.E18Q|SELT_ENST00000477889.1_5'UTR|SELT_ENST00000480740.1_Intron|SERP1_ENST00000490945.1_5'Flank|SELT_ENST00000485923.1_5'UTR			Q9Y6X1	SERP1_HUMAN	stress-associated endoplasmic reticulum protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucose metabolic process (GO:0006006)|multicellular organismal aging (GO:0010259)|muscle organ morphogenesis (GO:0048644)|plasma membrane organization (GO:0007009)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of organ growth (GO:0046622)|positive regulation of translation (GO:0045727)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|ribosome (GO:0005840)				large_intestine(1)|lung(3)	4			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGTCCGGAGCGAGGCCTCGGC	0.602																																						uc011bnx.1		NA																	0					0						c.(52-54)GAG>CAG		selenoprotein T precursor							18.0	23.0	21.0					3																	150321201		1985	4159	6144	SO:0001631	upstream_gene_variant	51714				cell redox homeostasis|selenocysteine incorporation		selenium binding	g.chr3:150321201G>C	AK125413	CCDS3150.1	3q25.1	2007-12-07	2007-12-07		ENSG00000120742	ENSG00000120742			10759	protein-coding gene	gene with protein product	"""ribosome associated membrane protein 4"""					10601334, 11230166	Standard	NM_014445		Approved	RAMP4, FLJ43424	uc003exy.3	Q9Y6X1	OTTHUMG00000159769		3.37:g.150321201G>C	Exception_encountered					SERP1_uc003exz.2_5'Flank|uc003eye.1_5'Flank	p.E18Q	NM_016275	NP_057359	P62341	SELT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		1	136	+			18	RSE -> WSD (in Ref. 4; AAH09611).				D3DNI6	Missense_Mutation	SNP	ENST00000479209.1	37	c.52G>C	CCDS3150.1	.	.	.	.	.	.	.	.	.	.	g	15.10	2.733243	0.48939	.	.	ENSG00000198843	ENST00000471696	.	.	.	4.81	4.81	0.61882	.	0.428312	0.23118	N	0.051724	T	0.36193	0.0958	N	0.08118	0	0.80722	D	1	B	0.26318	0.146	B	0.17433	0.018	T	0.20306	-1.0279	9	0.20046	T	0.44	-2.7828	15.7418	0.77905	0.0:0.0:1.0:0.0	.	18	P62341	SELT_HUMAN	Q	18	.	ENSP00000418910:E18Q	E	+	1	0	RP11-392O18.1	151803891	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.432000	0.52824	2.368000	0.80403	0.651000	0.88453	GAG		0.602	SERP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357239.1	NM_014445		7	29	0	0	0	0	7	29				
PLCH1	23007	broad.mit.edu	37	3	155200497	155200497	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:155200497C>T	ENST00000340059.7	-	23	3341	c.3342G>A	c.(3340-3342)gaG>gaA	p.E1114E	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.E1076E|PLCH1_ENST00000460012.1_Silent_p.E1076E|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Silent_p.E1076E	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1114					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCACAAAGTCCTCAGGATTAC	0.478																																						uc011bok.1		NA																	0				skin(3)|ovary(1)	4						c.(3340-3342)GAG>GAA		phospholipase C eta 1 isoform a							108.0	105.0	106.0					3																	155200497		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200497C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3342G>A	3.37:g.155200497C>T						PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Silent_p.E1076E	p.E1114E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	3619	-			1114					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.3342G>A	CCDS46939.1																																																																																				0.478	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		28	112	0	0	0	0	28	112				
VEPH1	79674	broad.mit.edu	37	3	157188282	157188282	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:157188282C>T	ENST00000362010.2	-	3	482	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	VEPH1_ENST00000537559.1_Missense_Mutation_p.E59K|VEPH1_ENST00000468233.1_Missense_Mutation_p.E59K|VEPH1_ENST00000494677.1_Missense_Mutation_p.E59K|VEPH1_ENST00000392833.2_Missense_Mutation_p.E59K|VEPH1_ENST00000392832.2_Missense_Mutation_p.E59K|VEPH1_ENST00000543418.1_Missense_Mutation_p.E59K	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	59						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ATACAGATTTCAACTACTGCC	0.408																																						uc003fbj.1		NA																	0				breast(3)|ovary(1)|lung(1)	5						c.(175-177)GAA>AAA		ventricular zone expressed PH domain homolog 1							200.0	191.0	194.0					3																	157188282		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157188282C>T	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.175G>A	3.37:g.157188282C>T	ENSP00000354919:p.Glu59Lys					VEPH1_uc003fbk.1_Missense_Mutation_p.E59K|VEPH1_uc010hvu.1_Missense_Mutation_p.E59K|VEPH1_uc003fbm.2_Missense_Mutation_p.E59K|VEPH1_uc003fbn.2_Missense_Mutation_p.E59K	p.E59K	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		3	492	-			59					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.175G>A	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	35	5.573799	0.96553	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000494677;ENST00000537559;ENST00000468233;ENST00000487753;ENST00000461299	T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.41;1.41;1.41;1.41	5.67	5.67	0.87782	.	0.051864	0.85682	D	0.000000	T	0.67655	0.2916	M	0.80982	2.52	0.80722	D	1	D;D;D	0.71674	0.995;0.998;0.976	P;D;P	0.66084	0.833;0.941;0.686	T	0.71182	-0.4668	10	0.87932	D	0	-7.8424	19.773	0.96379	0.0:1.0:0.0:0.0	.	59;59;59	Q14D04-2;Q14D04-3;Q14D04	.;.;MELT_HUMAN	K	59	ENSP00000376578:E59K;ENSP00000354919:E59K;ENSP00000446258:E59K;ENSP00000376577:E59K;ENSP00000419193:E59K;ENSP00000443868:E59K;ENSP00000417268:E59K;ENSP00000420097:E59K	ENSP00000354919:E59K	E	-	1	0	VEPH1	158670976	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.380000	0.79704	2.677000	0.91161	0.655000	0.94253	GAA		0.408	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		30	121	0	0	0	0	30	121				
RSRC1	51319	broad.mit.edu	37	3	157920866	157920866	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:157920866G>A	ENST00000295930.3	+	4	488	c.326G>A	c.(325-327)aGg>aAg	p.R109K	RSRC1_ENST00000480820.1_Missense_Mutation_p.R109K|RSRC1_ENST00000475278.2_Missense_Mutation_p.R109K|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000464171.1_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	109	Arg/Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TGTAGGTCCAGGTCAAGACCT	0.393																																						uc003fbt.2		NA																	0					0						c.(325-327)AGG>AAG		arginine/serine-rich coiled-coil 1							76.0	75.0	75.0					3																	157920866		2203	4300	6503	SO:0001583	missense	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:157920866G>A	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.326G>A	3.37:g.157920866G>A	ENSP00000295930:p.Arg109Lys					RSRC1_uc011bou.1_Intron|RSRC1_uc003fbu.1_Missense_Mutation_p.R109K|RSRC1_uc003fbv.2_Intron	p.R109K	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		4	437	+			109			Arg/Ser-rich.		A8K2R9|Q96QK2|Q9NZE5	Missense_Mutation	SNP	ENST00000295930.3	37	c.326G>A	CCDS3181.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325445	0.41197	.	.	ENSG00000174891	ENST00000480820;ENST00000494002;ENST00000295930;ENST00000471994;ENST00000475278;ENST00000476899	.	.	.	4.94	4.94	0.65067	.	0.264311	0.34338	N	0.004053	T	0.42698	0.1214	L	0.29908	0.895	0.43803	D	0.996351	B	0.10296	0.003	B	0.08055	0.003	T	0.32025	-0.9922	9	0.36615	T	0.2	.	9.1236	0.36801	0.1665:0.0:0.8335:0.0	.	109	Q96IZ7	RSRC1_HUMAN	K	109	.	ENSP00000295930:R109K	R	+	2	0	RSRC1	159403560	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	3.948000	0.56660	2.445000	0.82738	0.591000	0.81541	AGG		0.393	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		4	45	0	0	0	0	4	45				
SMC4	10051	broad.mit.edu	37	3	160137327	160137327	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:160137327G>T	ENST00000357388.3	+	12	2304	c.1853G>T	c.(1852-1854)aGa>aTa	p.R618I	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.R618I|SMC4_ENST00000344722.5_Missense_Mutation_p.R618I|SMC4_ENST00000469762.1_Missense_Mutation_p.R593I|SMC4_ENST00000360111.2_Missense_Mutation_p.R618I	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	618	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATATATGGAAGATTGGTAAAG	0.353																																						uc003fdh.2		NA																	0				ovary(1)|breast(1)	2						c.(1852-1854)AGA>ATA		SMC4 structural maintenance of chromosomes							44.0	49.0	47.0					3																	160137327		2194	4296	6490	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160137327G>T	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1853G>T	3.37:g.160137327G>T	ENSP00000349961:p.Arg618Ile					IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.R382I|SMC4_uc003fdi.2_Missense_Mutation_p.R593I|SMC4_uc003fdj.2_Missense_Mutation_p.R618I|SMC4_uc010hwd.2_Missense_Mutation_p.R618I|SMC4_uc003fdl.2_Missense_Mutation_p.R321I	p.R618I	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		12	1966	+			618			Flexible hinge.		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.1853G>T	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	34	5.308947	0.95629	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09	6.04	6.04	0.98038	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.95105	0.8414	M	0.90309	3.105	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.999;0.995;0.999	D	0.94782	0.7954	10	0.59425	D	0.04	-28.5669	20.2052	0.98274	0.0:0.0:1.0:0.0	.	618;593;593;618	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	I	618;618;593;618;618;212	ENSP00000349961:R618I;ENSP00000353225:R618I;ENSP00000417964:R593I;ENSP00000420734:R618I;ENSP00000341382:R618I	ENSP00000341382:R618I	R	+	2	0	SMC4	161620021	1.000000	0.71417	0.979000	0.43373	0.933000	0.57130	9.447000	0.97595	2.873000	0.98535	0.563000	0.77884	AGA		0.353	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			7	65	1	0	8.13e-05	8.47e-05	7	65				
GPR160	26996	broad.mit.edu	37	3	169802027	169802027	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:169802027C>T	ENST00000355897.5	+	4	875	c.267C>T	c.(265-267)ttC>ttT	p.F89F		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCATTAGGTTCACTAAATACC	0.303																																						uc003fgi.2		NA																	0					0						c.(265-267)TTC>TTT		G protein-coupled receptor 160							69.0	72.0	71.0					3																	169802027		2201	4294	6495	SO:0001819	synonymous_variant	26996					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:169802027C>T	AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"""GPCR / Class A : Orphans"""	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.267C>T	3.37:g.169802027C>T						GPR160_uc010hwq.2_Silent_p.F89F	p.F89F	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		4	857	+	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		89			Extracellular (Potential).		D3DNQ2	Silent	SNP	ENST00000355897.5	37	c.267C>T	CCDS3211.1																																																																																				0.303	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352167.1	NM_014373		8	82	0	0	0	0	8	82				
MRPL47	57129	broad.mit.edu	37	3	179306692	179306692	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:179306692G>C	ENST00000476781.1	-	7	750	c.721C>G	c.(721-723)Ctt>Gtt	p.L241V	MRPL47_ENST00000392659.2_Missense_Mutation_p.L131V|MRPL47_ENST00000259038.2_Missense_Mutation_p.L221V	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	241					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			GCTTCAGCAAGATGTGGAAAC	0.343																																						uc003fjz.2		NA																	0					0						c.(721-723)CTT>GTT		mitochondrial ribosomal protein L47 isoform a							78.0	86.0	83.0					3																	179306692		2203	4300	6503	SO:0001583	missense	57129				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr3:179306692G>C	AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"""Mitochondrial ribosomal proteins / large subunits"""	16652	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma metastasis-related 1"""	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.721C>G	3.37:g.179306692G>C	ENSP00000417602:p.Leu241Val					MRPL47_uc003fka.2_Missense_Mutation_p.L131V|MRPL47_uc003fkb.2_Missense_Mutation_p.L221V	p.L241V	NM_020409	NP_065142	Q9HD33	RM47_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		7	743	-	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		241					Q6XRG1|Q8N5D1	Missense_Mutation	SNP	ENST00000476781.1	37	c.721C>G	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	G	8.165	0.790417	0.16258	.	.	ENSG00000136522	ENST00000476781;ENST00000259038;ENST00000392659	T;T;T	0.49139	1.39;1.37;0.79	5.15	3.23	0.37069	.	0.840477	0.10973	N	0.613568	T	0.40932	0.1137	L	0.47716	1.5	0.32743	N	0.507476	B;B	0.23937	0.066;0.094	B;B	0.25291	0.059;0.043	T	0.45659	-0.9246	10	0.36615	T	0.2	-9.4563	9.7797	0.40640	0.0777:0.0:0.7803:0.1421	.	221;241	Q9HD33-2;Q9HD33	.;RM47_HUMAN	V	241;221;131	ENSP00000417602:L241V;ENSP00000259038:L221V;ENSP00000376427:L131V	ENSP00000259038:L221V	L	-	1	0	MRPL47	180789386	0.987000	0.35691	1.000000	0.80357	0.218000	0.24690	1.797000	0.38804	2.562000	0.86427	0.591000	0.81541	CTT		0.343	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409		13	165	0	0	0	0	13	165				
FXR1	8087	broad.mit.edu	37	3	180685868	180685868	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:180685868G>A	ENST00000357559.4	+	14	1612	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	FXR1_ENST00000491062.1_Missense_Mutation_p.E361K|FXR1_ENST00000468861.1_Missense_Mutation_p.E325K|FXR1_ENST00000445140.2_Missense_Mutation_p.E410K|FXR1_ENST00000480918.1_Missense_Mutation_p.E397K|FXR1_ENST00000305586.7_Missense_Mutation_p.E325K	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	410					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAACCCCTCTGAAACGGAATC	0.428																																						uc003fkq.2		NA																	0				breast(1)	1						c.(1228-1230)GAA>AAA		fragile X mental retardation-related protein 1							95.0	96.0	95.0					3																	180685868		2203	4300	6503	SO:0001583	missense	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180685868G>A	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1228G>A	3.37:g.180685868G>A	ENSP00000350170:p.Glu410Lys					FXR1_uc003fkp.2_Missense_Mutation_p.E325K|FXR1_uc003fkr.2_Missense_Mutation_p.E410K|FXR1_uc011bqj.1_Missense_Mutation_p.E324K|FXR1_uc003fks.2_Missense_Mutation_p.E353K|FXR1_uc011bqk.1_Missense_Mutation_p.E361K|FXR1_uc011bql.1_Missense_Mutation_p.E397K	p.E410K	NM_005087	NP_005078	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		14	1250	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		410					A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	c.1228G>A	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	G	36	5.638709	0.96693	.	.	ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	M	0.67397	2.05	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.985;0.999;1.0;0.995;0.997	D;P;D;D;D;D	0.87578	0.997;0.906;0.998;0.998;0.944;0.989	T	0.72491	-0.4277	10	0.54805	T	0.06	-2.3311	19.7945	0.96474	0.0:0.0:1.0:0.0	.	397;361;325;354;410;410	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	K	410;325;361;325;410;397	ENSP00000350170:E410K;ENSP00000307633:E325K;ENSP00000420643:E361K;ENSP00000420515:E325K;ENSP00000388828:E410K;ENSP00000418097:E397K	ENSP00000307633:E325K	E	+	1	0	FXR1	182168562	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.746000	0.94184	0.591000	0.81541	GAA		0.428	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			24	161	0	0	0	0	24	161				
MCF2L2	23101	broad.mit.edu	37	3	182897459	182897459	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:182897459C>G	ENST00000328913.3	-	29	3424	c.3127G>C	c.(3127-3129)Gac>Cac	p.D1043H	MCF2L2_ENST00000468976.1_5'Flank|MCF2L2_ENST00000473233.1_Missense_Mutation_p.D1043H	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1043							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGACTGTCGTCCGACTGGAAA	0.587																																						uc003fli.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(3127-3129)GAC>CAC		Rho family guanine-nucleotide exchange factor							83.0	91.0	88.0					3																	182897459		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182897459C>G	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.3127G>C	3.37:g.182897459C>G	ENSP00000328118:p.Asp1043His						p.D1043H	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		29	3217	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		1043					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.3127G>C	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539430	0.65085	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.02067	4.47;4.52	4.32	3.43	0.39272	.	0.858384	0.10118	N	0.713785	T	0.02418	0.0074	N	0.24115	0.695	0.35496	D	0.799427	P	0.48911	0.917	P	0.46510	0.519	T	0.59172	-0.7504	10	0.16896	T	0.51	.	7.1798	0.25765	0.0:0.8753:0.0:0.1247	.	1043	Q86YR7	MF2L2_HUMAN	H	1043	ENSP00000328118:D1043H;ENSP00000420070:D1043H	ENSP00000328118:D1043H	D	-	1	0	MCF2L2	184380153	0.234000	0.23783	0.422000	0.26621	0.489000	0.33432	1.686000	0.37669	1.003000	0.39130	0.511000	0.50034	GAC		0.587	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		22	225	0	0	0	0	22	225				
AP2M1	1173	broad.mit.edu	37	3	183900581	183900581	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:183900581C>T	ENST00000292807.5	+	11	1246	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000461733.1_3'UTR|AP2M1_ENST00000382456.3_Silent_p.I364I|AP2M1_ENST00000411763.2_Silent_p.I391I|AP2M1_ENST00000439647.1_Silent_p.I364I	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	366	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AATCGCAGATCAGCGCAGAGA	0.552																																						uc011bqx.1		NA																	0					0						c.(1096-1098)ATC>ATT		adaptor-related protein complex 2, mu 1 subunit							63.0	63.0	63.0					3																	183900581		2005	4180	6185	SO:0001819	synonymous_variant	1173				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity	g.chr3:183900581C>T	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.1098C>T	3.37:g.183900581C>T						AP2M1_uc003fmw.2_Silent_p.I364I|AP2M1_uc003fmx.2_Silent_p.I294I|AP2M1_uc003fmy.2_Silent_p.I364I|AP2M1_uc011bqy.1_Silent_p.I236I|AP2M1_uc011bqz.1_Silent_p.I182I	p.I366I	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		11	1255	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		366			MHD.		A6NE12|D3DNT1|P20172|P53679	Silent	SNP	ENST00000292807.5	37	c.1098C>T	CCDS43177.1																																																																																				0.552	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	NM_004068		17	93	0	0	0	0	17	93				
AHSG	197	broad.mit.edu	37	3	186338532	186338532	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:186338532G>C	ENST00000273784.5	+	7	996	c.920G>C	c.(919-921)gGa>gCa	p.G307A	AHSG_ENST00000411641.2_Missense_Mutation_p.G306A	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	306					acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCTCCTCCAGGACACCAGTTG	0.632																																						uc003fqk.3		NA																	0					0						c.(916-918)GGA>GCA		alpha-2-HS-glycoprotein							92.0	97.0	95.0					3																	186338532		2203	4300	6503	SO:0001583	missense	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186338532G>C	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.920G>C	3.37:g.186338532G>C	ENSP00000273784:p.Gly307Ala					AHSG_uc003fql.3_Missense_Mutation_p.G307A|AHSG_uc003fqm.3_Missense_Mutation_p.G305A|AHSG_uc010hyp.2_Missense_Mutation_p.G269A	p.G306A	NM_001622	NP_001613	P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	7	998	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		306					A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	37	c.917G>C		.	.	.	.	.	.	.	.	.	.	g	0.034	-1.317819	0.01320	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.06142	3.35;3.34	5.35	-10.7	0.00240	.	1.207210	0.05661	N	0.586803	T	0.01940	0.0061	N	0.11255	0.115	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.38243	-0.9670	10	0.02654	T	1	1.7329	3.3727	0.07227	0.1212:0.358:0.2469:0.2738	.	372;306;307	F5H0Q5;P02765;C9JV77	.;FETUA_HUMAN;.	A	306;372;307	ENSP00000393887:G306A;ENSP00000273784:G307A	ENSP00000273784:G307A	G	+	2	0	AHSG	187821226	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.748000	0.00055	-2.371000	0.00602	-3.043000	0.00070	GGA		0.632	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		105	167	0	0	0	0	105	167				
HRG	3273	broad.mit.edu	37	3	186395631	186395631	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:186395631C>T	ENST00000232003.4	+	7	1617	c.1537C>T	c.(1537-1539)Cca>Tca	p.P513S		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	513					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GAGTGGGTTTCCACAAGTTTC	0.363																																						uc003fqq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1537-1539)CCA>TCA		histidine-rich glycoprotein precursor							93.0	87.0	89.0					3																	186395631		2203	4300	6503	SO:0001583	missense	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186395631C>T		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.1537C>T	3.37:g.186395631C>T	ENSP00000232003:p.Pro513Ser						p.P513S	NM_000412	NP_000403	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	7	1560	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		513					B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	c.1537C>T	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	C	2.118	-0.402192	0.04865	.	.	ENSG00000113905	ENST00000232003	T	0.11821	2.74	5.09	-0.162	0.13367	.	0.988115	0.08228	N	0.978028	T	0.06508	0.0167	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.45366	-0.9266	10	0.13108	T	0.6	7.7769	5.9837	0.19421	0.0:0.5152:0.1325:0.3523	.	513	P04196	HRG_HUMAN	S	513	ENSP00000232003:P513S	ENSP00000232003:P513S	P	+	1	0	HRG	187878325	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	-0.002000	0.12924	-0.244000	0.09639	-1.164000	0.01763	CCA		0.363	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		33	88	0	0	0	0	33	88				
LEPREL1	55214	broad.mit.edu	37	3	189681803	189681803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:189681803C>T	ENST00000319332.5	-	14	2175	c.1978G>A	c.(1978-1980)Gga>Aga	p.G660R	LEPREL1_ENST00000427335.2_Missense_Mutation_p.G479R	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	660	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTCTTTCCCTTGGTGACT	0.493																																						uc011bsk.1		NA																	0				breast(3)|ovary(1)	4						c.(1978-1980)GGA>AGA		leprecan-like 1 isoform a	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						121.0	114.0	116.0					3																	189681803		2203	4300	6503	SO:0001583	missense	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189681803C>T		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1978G>A	3.37:g.189681803C>T	ENSP00000316881:p.Gly660Arg					LEPREL1_uc003fsg.2_Missense_Mutation_p.G479R	p.G660R	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	14	2366	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		660			Fe2OG dioxygenase.		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	ENST00000319332.5	37	c.1978G>A	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199883	0.94997	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.58940	0.3;0.3	5.91	5.91	0.95273	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.77170	0.4091	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75494	-0.3298	9	.	.	.	-23.2217	19.2867	0.94077	0.0:1.0:0.0:0.0	.	660	Q8IVL5	P3H2_HUMAN	R	660;479	ENSP00000316881:G660R;ENSP00000408947:G479R	.	G	-	1	0	LEPREL1	191164497	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.487000	0.81328	2.793000	0.96121	0.655000	0.94253	GGA		0.493	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		26	151	0	0	0	0	26	151				
ATP13A4	84239	broad.mit.edu	37	3	193185208	193185208	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:193185208C>G	ENST00000342695.4	-	10	1333	c.1011G>C	c.(1009-1011)caG>caC	p.Q337H	ATP13A4_ENST00000295548.3_Missense_Mutation_p.Q337H|ATP13A4_ENST00000392443.3_Missense_Mutation_p.Q337H	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	337						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCGCTTCACTCTGTGTTTTCC	0.502																																						uc003ftd.2		NA																	0				ovary(2)	2						c.(1009-1011)CAG>CAC		ATPase type 13A4							139.0	128.0	132.0					3																	193185208		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193185208C>G	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1011G>C	3.37:g.193185208C>G	ENSP00000339182:p.Gln337His					ATP13A4_uc003fte.1_Missense_Mutation_p.Q337H|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc010hzi.2_RNA|ATP13A4_uc003ftf.3_Missense_Mutation_p.Q43H	p.Q337H	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	10	1119	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		337			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.1011G>C	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	2.869	-0.234476	0.05983	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	D;D;D	0.88124	-2.34;-2.34;-2.34	6.16	2.17	0.27698	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.078054	0.52532	D	0.000061	T	0.67757	0.2927	N	0.05383	-0.06	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.11329	0.003;0.005;0.006	T	0.51505	-0.8697	9	.	.	.	-22.3336	3.9192	0.09236	0.229:0.3576:0.3356:0.0778	.	337;337;337	Q4VNC1-3;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	H	337	ENSP00000376238:Q337H;ENSP00000339182:Q337H;ENSP00000295548:Q337H	.	Q	-	3	2	ATP13A4	194667902	1.000000	0.71417	0.952000	0.39060	0.993000	0.82548	1.213000	0.32407	0.940000	0.37473	0.650000	0.86243	CAG		0.502	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		19	163	0	0	0	0	19	163				
ATP13A3	79572	broad.mit.edu	37	3	194152469	194152469	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:194152469G>A	ENST00000439040.1	-	22	3189	c.2398C>T	c.(2398-2400)Cat>Tat	p.H800Y	ATP13A3_ENST00000256031.4_Missense_Mutation_p.H800Y			Q9H7F0	AT133_HUMAN	ATPase type 13A3	800						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCTGATGGATGACTGCACTGC	0.388																																						uc003fty.3		NA																	0				ovary(1)	1						c.(2398-2400)CAT>TAT		ATPase type 13A3							92.0	85.0	87.0					3																	194152469		1950	4147	6097	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194152469G>A	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2398C>T	3.37:g.194152469G>A	ENSP00000416508:p.His800Tyr					ATP13A3_uc003ftz.1_Missense_Mutation_p.H506Y	p.H800Y	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	21	2800	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	800					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.2398C>T	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	G	6.453	0.451683	0.12223	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	D;D	0.86097	-2.07;-2.07	5.71	0.72	0.18214	HAD-like domain (1);	0.812188	0.11630	N	0.544908	T	0.70666	0.3250	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.16289	0.015	T	0.54702	-0.8254	10	0.31617	T	0.26	0.7801	4.8778	0.13665	0.0:0.2449:0.3038:0.4512	.	800	Q9H7F0	AT133_HUMAN	Y	800;800;538	ENSP00000416508:H800Y;ENSP00000256031:H800Y	ENSP00000256031:H800Y	H	-	1	0	ATP13A3	195633758	0.969000	0.33509	0.219000	0.23793	0.528000	0.34623	0.697000	0.25556	-0.092000	0.12417	-0.474000	0.04947	CAT		0.388	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		10	45	0	0	0	0	10	45				
TMEM44	93109	broad.mit.edu	37	3	194309351	194309351	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:194309351C>G	ENST00000392432.2	-	11	1540	c.1335G>C	c.(1333-1335)gtG>gtC	p.V445V	TMEM44_ENST00000473092.1_Silent_p.V408V|TMEM44_ENST00000381975.3_Nonstop_Mutation_p.*397S|TMEM44_ENST00000476750.1_5'UTR|TMEM44_ENST00000273580.7_Silent_p.V409V|TMEM44-AS1_ENST00000453671.1_RNA|TMEM44-AS1_ENST00000447982.1_RNA|TMEM44_ENST00000347147.4_Silent_p.V398V|TMEM44-AS1_ENST00000419571.1_RNA	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	445						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CTTCGAGGTTCACATCTTCAG	0.498																																						uc010hzn.2		NA																	0					0						c.(1333-1335)GTG>GTC		transmembrane protein 44 isoform b							158.0	153.0	154.0					3																	194309351		2203	4300	6503	SO:0001819	synonymous_variant	93109					integral to membrane		g.chr3:194309351C>G	AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.1335G>C	3.37:g.194309351C>G						TMEM44_uc010hzm.2_Nonstop_Mutation_p.*120S|TMEM44_uc003fuc.2_Silent_p.V130V|TMEM44_uc003fue.2_Silent_p.V398V|TMEM44_uc003fud.2_Silent_p.V409V|TMEM44_uc003fuf.2_Nonstop_Mutation_p.*397S|TMEM44_uc011bsv.1_Silent_p.V408V|uc003fug.2_5'Flank	p.V445V	NM_001011655	NP_001011655	Q2T9K0	TMM44_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)	11	1504	-	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		445			Cytoplasmic (Potential).		A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Silent	SNP	ENST00000392432.2	37	c.1335G>C	CCDS54699.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787348	0.31593	.	.	ENSG00000145014	ENST00000381975;ENST00000429560	.	.	.	4.42	-3.91	0.04168	.	.	.	.	.	.	.	.	.	.	.	0.46078	D	0.998854	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.4027	1.6152	0.02701	0.1334:0.368:0.1333:0.3654	.	.	.	.	S	397;120	.	.	X	-	2	2	TMEM44	195790640	0.154000	0.22792	0.122000	0.21767	0.935000	0.57460	-0.199000	0.09491	-0.873000	0.04032	0.591000	0.81541	TGA		0.498	TMEM44-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342750.1	NM_138399		10	235	0	0	0	0	10	235				
MUC4	4585	broad.mit.edu	37	3	195515905	195515905	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:195515905G>A	ENST00000463781.3	-	2	3005	c.2546C>T	c.(2545-2547)tCc>tTc	p.S849F	MUC4_ENST00000475231.1_Missense_Mutation_p.S849F|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	854	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGCTGAGGCGGACAGCAATTC	0.557																																						uc011bto.1		NA																	0					0						c.(2545-2547)TCC>TTC		mucin 4 isoform a							64.0	71.0	69.0					3																	195515905		2117	4219	6336	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515905G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2546C>T	3.37:g.195515905G>A	ENSP00000417498:p.Ser849Phe					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.S731F	p.S849F	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3006	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	854			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.2546C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	6.676	0.493383	0.12702	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.48836	0.8;0.82	2.85	2.85	0.33270	.	1.914940	0.02539	N	0.094360	T	0.57858	0.2082	L	0.34521	1.04	0.09310	N	1	D;D	0.76494	0.995;0.999	P;P	0.62813	0.852;0.907	T	0.51434	-0.8706	10	0.62326	D	0.03	-2.3685	9.5156	0.39104	0.0:0.0:1.0:0.0	.	849;854	E7ESK3;Q99102	.;MUC4_HUMAN	F	849;849;823	ENSP00000417498:S849F;ENSP00000420243:S849F	ENSP00000376209:S823F	S	-	2	0	MUC4	197000300	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	0.372000	0.20467	1.911000	0.55334	0.627000	0.83407	TCC		0.557	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		13	109	0	0	0	0	13	109				
TNK2	10188	broad.mit.edu	37	3	195595101	195595101	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:195595101C>G	ENST00000333602.6	-	12	2640	c.2023G>C	c.(2023-2025)Gag>Cag	p.E675Q	TNK2_ENST00000381916.2_Missense_Mutation_p.E753Q|TNK2_ENST00000392400.1_Missense_Mutation_p.E675Q|TNK2_ENST00000428187.1_Missense_Mutation_p.E707Q	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	675	Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CGCGCCTGCTCAGGCACAAAG	0.682																																						uc003fvu.1		NA																	0				ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10						c.(2023-2025)GAG>CAG		tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)						14.0	18.0	16.0					3																	195595101		2192	4285	6477	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195595101C>G	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2023G>C	3.37:g.195595101C>G	ENSP00000329425:p.Glu675Gln					TNK2_uc003fvq.1_Missense_Mutation_p.E82Q|TNK2_uc003fvr.1_Missense_Mutation_p.E200Q|TNK2_uc003fvs.1_Missense_Mutation_p.E707Q|TNK2_uc003fvt.1_Missense_Mutation_p.E753Q|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR	p.E675Q	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	2566	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	675	Missing (in Ref. 4; AAH08884).		Pro-rich.		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.2023G>C	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709827	0.48517	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	5.47	4.6	0.57074	.	0.187177	0.44483	D	0.000448	T	0.52354	0.1729	N	0.24115	0.695	0.80722	D	1	B;D;P;D	0.89917	0.296;1.0;0.704;0.979	B;D;B;P	0.71870	0.027;0.975;0.17;0.78	T	0.53165	-0.8477	10	0.45353	T	0.12	.	12.6536	0.56776	0.0:0.9196:0.0:0.0804	.	675;753;707;200	Q07912;Q07912-3;C9J1X3;B3KXJ4	ACK1_HUMAN;.;.;.	Q	675;753;242;707;675	ENSP00000329425:E675Q;ENSP00000371341:E753Q;ENSP00000398614:E242Q;ENSP00000392546:E707Q;ENSP00000376201:E675Q	ENSP00000329425:E675Q	E	-	1	0	TNK2	197079498	0.996000	0.38824	0.721000	0.30653	0.576000	0.36127	5.060000	0.64312	1.303000	0.44873	0.586000	0.80456	GAG		0.682	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		10	72	0	0	0	0	10	72				
TNK2	10188	broad.mit.edu	37	3	195595308	195595308	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:195595308G>C	ENST00000333602.6	-	12	2433	c.1816C>G	c.(1816-1818)Cag>Gag	p.Q606E	TNK2_ENST00000381916.2_Missense_Mutation_p.Q684E|TNK2_ENST00000392400.1_Missense_Mutation_p.Q606E|TNK2_ENST00000428187.1_Missense_Mutation_p.Q638E	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	606	Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GTGGGGCTCTGAGGCGGGGTC	0.766																																						uc003fvu.1		NA																	0				ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10						c.(1816-1818)CAG>GAG		tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)						6.0	10.0	8.0					3																	195595308		2021	3929	5950	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195595308G>C	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1816C>G	3.37:g.195595308G>C	ENSP00000329425:p.Gln606Glu					TNK2_uc003fvq.1_Missense_Mutation_p.Q13E|TNK2_uc003fvr.1_Missense_Mutation_p.Q131E|TNK2_uc003fvs.1_Missense_Mutation_p.Q638E|TNK2_uc003fvt.1_Missense_Mutation_p.Q684E|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR	p.Q606E	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	2359	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	606	Missing (in Ref. 4; AAH08884).		Pro-rich.		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.1816C>G	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179493	0.38511	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.53	5.53	0.82687	.	0.061072	0.64402	D	0.000003	T	0.26340	0.0643	L	0.32530	0.975	0.80722	D	1	B;B;B;B	0.09022	0.002;0.001;0.0;0.001	B;B;B;B	0.11329	0.001;0.006;0.0;0.004	T	0.04607	-1.0939	10	0.19590	T	0.45	.	18.0174	0.89246	0.0:0.0:1.0:0.0	.	606;684;638;131	Q07912;Q07912-3;C9J1X3;B3KXJ4	ACK1_HUMAN;.;.;.	E	606;684;173;638;606	ENSP00000329425:Q606E;ENSP00000371341:Q684E;ENSP00000398614:Q173E;ENSP00000392546:Q638E;ENSP00000376201:Q606E	ENSP00000329425:Q606E	Q	-	1	0	TNK2	197079705	1.000000	0.71417	0.651000	0.29564	0.776000	0.43924	6.360000	0.73064	2.599000	0.87857	0.586000	0.80456	CAG		0.766	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		11	22	0	0	0	0	11	22				
NRROS	375387	broad.mit.edu	37	3	196386869	196386869	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:196386869G>A	ENST00000328557.4	+	3	558	c.355G>A	c.(355-357)Gag>Aag	p.E119K		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	119					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CTGCCTCTCAGAGAACTACGA	0.672																																						uc003fwv.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(355-357)GAG>AAG		leucine rich repeat containing 33 precursor							27.0	29.0	28.0					3																	196386869		2203	4300	6503	SO:0001583	missense	375387					integral to membrane		g.chr3:196386869G>A	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.355G>A	3.37:g.196386869G>A	ENSP00000328625:p.Glu119Lys						p.E119K	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	459	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		119			Extracellular (Potential).|LRR 3.			Missense_Mutation	SNP	ENST00000328557.4	37	c.355G>A	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	G	0.082	-1.181113	0.01633	.	.	ENSG00000174004	ENST00000328557	T	0.00995	5.46	6.07	4.26	0.50523	.	0.677383	0.15213	N	0.274399	T	0.00845	0.0028	L	0.45051	1.395	0.23070	N	0.998346	B	0.23442	0.085	B	0.19666	0.026	T	0.48269	-0.9050	10	0.05833	T	0.94	.	4.0211	0.09665	0.2099:0.2138:0.5763:0.0	.	119	Q86YC3	LRC33_HUMAN	K	119	ENSP00000328625:E119K	ENSP00000328625:E119K	E	+	1	0	LRRC33	197871266	0.383000	0.25156	0.901000	0.35422	0.019000	0.09904	2.144000	0.42197	1.547000	0.49401	0.655000	0.94253	GAG		0.672	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		7	51	0	0	0	0	7	51				
DLG1	1739	broad.mit.edu	37	3	196792287	196792287	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:196792287C>T	ENST00000419354.1	-	23	2552	c.2266G>A	c.(2266-2268)Gat>Aat	p.D756N	DLG1_ENST00000452595.1_Missense_Mutation_p.D640N|DLG1_ENST00000450955.1_Missense_Mutation_p.D745N|DLG1_ENST00000314062.3_Missense_Mutation_p.D705N|DLG1_ENST00000392382.2_Missense_Mutation_p.D723N|DLG1_ENST00000422288.1_Missense_Mutation_p.D705N|DLG1_ENST00000448528.2_Missense_Mutation_p.D756N|DLG1_ENST00000357674.4_Missense_Mutation_p.D745N|DLG1_ENST00000443183.1_Missense_Mutation_p.D652N|DLG1_ENST00000346964.2_Missense_Mutation_p.D778N			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	756	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TCTCTTCCATCTACCTCATAA	0.303																																						uc003fxo.3		NA																	0				ovary(3)	3						c.(2266-2268)GAT>AAT		discs, large homolog 1 isoform 1							152.0	152.0	152.0					3																	196792287		2202	4300	6502	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196792287C>T	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.2266G>A	3.37:g.196792287C>T	ENSP00000407531:p.Asp756Asn					DLG1_uc011bub.1_Missense_Mutation_p.D652N|DLG1_uc011buc.1_Missense_Mutation_p.D640N|DLG1_uc011bud.1_Missense_Mutation_p.D439N|DLG1_uc003fxn.3_Missense_Mutation_p.D778N|DLG1_uc011bue.1_Missense_Mutation_p.D744N|DLG1_uc010ial.2_Missense_Mutation_p.D756N	p.D756N	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	23	2456	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	756			Guanylate kinase-like.		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.2266G>A	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556430	0.86231	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	T;T;T;T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14	5.32	5.32	0.75619	Guanylate kinase/L-type calcium channel (1);Guanylate kinase, conserved site (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	L	0.35288	1.05	0.80722	D	1	P;D;D;D;D	0.89917	0.83;0.987;1.0;0.988;1.0	P;P;D;P;D	0.91635	0.619;0.893;0.999;0.893;0.999	T	0.02975	-1.1087	10	0.32370	T	0.25	.	17.9766	0.89129	0.0:1.0:0.0:0.0	.	745;640;652;756;778	Q12959-4;E9PG21;E7EWL7;Q12959;Q12959-2	.;.;.;DLG1_HUMAN;.	N	778;769;745;743;705;756;640;705;756;652;723;745	ENSP00000345731:D778N;ENSP00000350303:D745N;ENSP00000321087:D705N;ENSP00000407531:D756N;ENSP00000398939:D640N;ENSP00000413238:D705N;ENSP00000391732:D756N;ENSP00000396658:D652N;ENSP00000376187:D723N;ENSP00000411278:D745N	ENSP00000321087:D705N	D	-	1	0	DLG1	198276684	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.487000	0.81328	2.497000	0.84241	0.467000	0.42956	GAT		0.303	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		7	135	0	0	0	0	7	135				
KIAA0226	9711	broad.mit.edu	37	3	197427616	197427616	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:197427616C>G	ENST00000296343.5	-	7	1128	c.1129G>C	c.(1129-1131)Gag>Cag	p.E377Q	KIAA0226_ENST00000449205.1_Missense_Mutation_p.E377Q|KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000273582.5_Missense_Mutation_p.E317Q|KIAA0226_ENST00000389665.5_Missense_Mutation_p.E377Q	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	377	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AGCTGGCTCTCCCCACCTCCT	0.577																																					Esophageal Squamous(3;167 355 3763 15924)	uc003fyc.2		NA																	0					0						c.(1129-1131)GAG>CAG		hypothetical protein LOC9711 isoform 2.							58.0	63.0	62.0					3																	197427616		2037	4184	6221	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197427616C>G	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1129G>C	3.37:g.197427616C>G	ENSP00000296343:p.Glu377Gln					KIAA0226_uc003fyd.3_Missense_Mutation_p.E317Q|KIAA0226_uc003fye.1_Missense_Mutation_p.E84Q|KIAA0226_uc003fyf.2_Missense_Mutation_p.E210Q|KIAA0226_uc003fyg.2_Missense_Mutation_p.E370Q	p.E377Q	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	7	1312	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		377			Ser-rich.		Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.1129G>C	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.033|0.033	-1.321602|-1.321602	0.01320|0.01320	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665;ENST00000447048;ENST00000449205|ENST00000413360	.|.	.|.	.|.	5.85|5.85	4.07|4.07	0.47477|0.47477	.|.	0.501220|.	0.19559|.	N|.	0.111372|.	T|T	0.09774|0.09774	0.0240|0.0240	N|N	0.01874|0.01874	-0.695|-0.695	0.18873|0.18873	N|N	0.999988|0.999988	B;B;B;B;B|.	0.06786|.	0.001;0.0;0.001;0.001;0.0|.	B;B;B;B;B|.	0.11329|.	0.001;0.001;0.002;0.006;0.001|.	T|T	0.31779|0.31779	-0.9931|-0.9931	9|6	0.10636|0.10902	T|T	0.68|0.67	.|.	5.8117|5.8117	0.18469|0.18469	0.0755:0.394:0.4122:0.1183|0.0755:0.394:0.4122:0.1183	.|.	377;210;377;317;377|.	E9PEM3;Q5HYI6;Q92622-3;Q92622-2;Q92622|.	.;.;.;.;RUBIC_HUMAN|.	Q|A	317;377;377;9;377|355	.|.	ENSP00000273582:E317Q|ENSP00000405115:G355A	E|G	-|-	1|2	0|0	KIAA0226|KIAA0226	198912013|198912013	0.721000|0.721000	0.28007|0.28007	0.852000|0.852000	0.33557|0.33557	0.530000|0.530000	0.34684|0.34684	0.745000|0.745000	0.26259|0.26259	0.821000|0.821000	0.34540|0.34540	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.577	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		35	76	0	0	0	0	35	76				
KLB	152831	broad.mit.edu	37	4	39448239	39448239	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:39448239G>A	ENST00000257408.4	+	4	1990	c.1893G>A	c.(1891-1893)ctG>ctA	p.L631L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	631	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GTGAGGGGCTGAAGCTTGGCA	0.627																																						uc003gua.2		NA																	0				skin(1)	1						c.(1891-1893)CTG>CTA		klotho beta							102.0	96.0	98.0					4																	39448239		2203	4300	6503	SO:0001819	synonymous_variant	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448239G>A	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1893G>A	4.37:g.39448239G>A						KLB_uc011byj.1_Silent_p.L622L	p.L631L	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			4	1990	+			631			Extracellular (Potential).|Glycosyl hydrolase-1 2.		Q2M3K8	Silent	SNP	ENST00000257408.4	37	c.1893G>A	CCDS3451.1																																																																																				0.627	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		27	54	0	0	0	0	27	54				
NSUN7	79730	broad.mit.edu	37	4	40752778	40752778	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:40752778C>A	ENST00000381782.2	+	2	563	c.68C>A	c.(67-69)aCt>aAt	p.T23N	NSUN7_ENST00000316607.5_Missense_Mutation_p.T23N	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	23							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TCCCAACTCACTTCCCTGCCT	0.547																																						uc003gvj.3		NA																	0					0						c.(67-69)ACT>AAT		NOL1/NOP2/Sun domain family, member 7							81.0	78.0	79.0					4																	40752778		2203	4300	6503	SO:0001583	missense	79730							g.chr4:40752778C>A	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.68C>A	4.37:g.40752778C>A	ENSP00000371201:p.Thr23Asn					NSUN7_uc003gvh.2_Missense_Mutation_p.T23N|NSUN7_uc003gvi.3_Missense_Mutation_p.T23N	p.T23N	NM_024677	NP_078953					2	563	+								C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	37	c.68C>A	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864316	0.32977	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.18174	2.47;2.23	4.53	3.69	0.42338	.	0.810102	0.10947	N	0.616548	T	0.11537	0.0281	N	0.14661	0.345	0.09310	N	1	B;B;B	0.28128	0.201;0.178;0.178	B;B;B	0.31101	0.058;0.079;0.124	T	0.28038	-1.0056	10	0.56958	D	0.05	-4.6286	8.3423	0.32252	0.0:0.8928:0.0:0.1072	.	23;23;23	Q8NE18;Q8NE18-2;Q8NE18-3	NSUN7_HUMAN;.;.	N	23	ENSP00000371201:T23N;ENSP00000319127:T23N	ENSP00000319127:T23N	T	+	2	0	NSUN7	40447535	0.067000	0.21026	0.054000	0.19295	0.005000	0.04900	1.197000	0.32211	1.125000	0.41998	0.467000	0.42956	ACT		0.547	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		29	70	1	0	2.66e-16	2.89e-16	29	70				
NSUN7	79730	broad.mit.edu	37	4	40752873	40752873	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:40752873C>G	ENST00000381782.2	+	2	658	c.163C>G	c.(163-165)Cag>Gag	p.Q55E	NSUN7_ENST00000316607.5_Missense_Mutation_p.Q55E	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	55							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CAACATTTTTCAGGGTATTCG	0.512																																						uc003gvj.3		NA																	0					0						c.(163-165)CAG>GAG		NOL1/NOP2/Sun domain family, member 7							86.0	86.0	86.0					4																	40752873		2203	4300	6503	SO:0001583	missense	79730							g.chr4:40752873C>G	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.163C>G	4.37:g.40752873C>G	ENSP00000371201:p.Gln55Glu					NSUN7_uc003gvh.2_Missense_Mutation_p.Q55E|NSUN7_uc003gvi.3_Missense_Mutation_p.Q55E	p.Q55E	NM_024677	NP_078953					2	658	+								C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	37	c.163C>G	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611568	0.28712	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.46063	0.88;0.88	4.63	3.79	0.43588	.	0.199007	0.44097	D	0.000493	T	0.33498	0.0865	L	0.52011	1.625	0.33948	D	0.644107	P;P;B	0.43578	0.714;0.811;0.323	B;B;B	0.41236	0.351;0.331;0.175	T	0.40117	-0.9580	10	0.07175	T	0.84	-8.004	11.4016	0.49873	0.0:0.9109:0.0:0.0891	.	55;55;55	Q8NE18;Q8NE18-2;Q8NE18-3	NSUN7_HUMAN;.;.	E	55	ENSP00000371201:Q55E;ENSP00000319127:Q55E	ENSP00000319127:Q55E	Q	+	1	0	NSUN7	40447630	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	3.005000	0.49521	1.171000	0.42768	0.467000	0.42956	CAG		0.512	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		40	94	0	0	0	0	40	94				
LRRC66	339977	broad.mit.edu	37	4	52861814	52861814	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:52861814G>C	ENST00000343457.3	-	4	1380	c.1374C>G	c.(1372-1374)ttC>ttG	p.F458L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	458						integral component of membrane (GO:0016021)		p.F458L(2)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTGTCACCCAGAAAGGGGTCT	0.562																																						uc003gzi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1372-1374)TTC>TTG		leucine rich repeat containing 66							80.0	84.0	82.0					4																	52861814		2008	4171	6179	SO:0001583	missense	339977					integral to membrane		g.chr4:52861814G>C	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1374C>G	4.37:g.52861814G>C	ENSP00000341944:p.Phe458Leu						p.F458L	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	1387	-			458						Missense_Mutation	SNP	ENST00000343457.3	37	c.1374C>G	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	1.476	-0.558428	0.03967	.	.	ENSG00000188993	ENST00000343457	T	0.27557	1.66	2.99	0.195	0.15151	.	0.793635	0.10680	N	0.646509	T	0.16685	0.0401	N	0.19112	0.55	0.09310	N	1	B	0.18863	0.031	B	0.12156	0.007	T	0.22730	-1.0208	10	0.41790	T	0.15	0.0814	4.3657	0.11223	0.2318:0.1883:0.5799:0.0	.	458	Q68CR7	LRC66_HUMAN	L	458	ENSP00000341944:F458L	ENSP00000341944:F458L	F	-	3	2	LRRC66	52556571	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.127000	0.15790	-0.000000	0.14550	0.467000	0.42956	TTC		0.562	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		26	72	0	0	0	0	26	72				
ODAM	54959	broad.mit.edu	37	4	71068032	71068032	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:71068032G>A	ENST00000396094.2	+	8	682	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	212					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CACAGCTCCTGAAATTGCTGT	0.373																																						uc003hfc.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(634-636)GAA>AAA		odontogenic ameloblast-associated protein							102.0	89.0	93.0					4																	71068032		2203	4300	6503	SO:0001583	missense	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71068032G>A	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.634G>A	4.37:g.71068032G>A	ENSP00000379401:p.Glu212Lys						p.E212K	NM_017855	NP_060325	A1E959	ODAM_HUMAN			8	651	+			212					Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	c.634G>A	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664433	0.47572	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.55234	0.53;0.53	4.95	4.95	0.65309	.	0.000000	0.56097	D	0.000040	T	0.62744	0.2453	L	0.58101	1.795	0.20764	N	0.999853	D	0.61080	0.989	P	0.56563	0.801	T	0.58561	-0.7615	10	0.72032	D	0.01	-11.9869	13.8736	0.63638	0.0:0.0:1.0:0.0	.	212	A1E959	ODAM_HUMAN	K	212;198;149	ENSP00000379401:E212K;ENSP00000426106:E149K	ENSP00000379401:E212K	E	+	1	0	ODAM	71102621	0.993000	0.37304	0.200000	0.23457	0.031000	0.12232	4.177000	0.58276	2.738000	0.93877	0.655000	0.94253	GAA		0.373	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		12	34	0	0	0	0	12	34				
ENAM	10117	broad.mit.edu	37	4	71508617	71508617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:71508617G>A	ENST00000396073.3	+	9	1755	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	492					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TGATCAACATGAAAACTCCTA	0.378																																						uc011caw.1		NA																	0				ovary(3)	3						c.(1474-1476)GAA>AAA		enamelin precursor							39.0	40.0	40.0					4																	71508617		2202	4300	6502	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508617G>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1474G>A	4.37:g.71508617G>A	ENSP00000379383:p.Glu492Lys						p.E492K	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1755	+			492					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.1474G>A	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510821	0.64522	.	.	ENSG00000132464	ENST00000396073	T	0.40756	1.02	5.83	5.83	0.93111	.	0.100139	0.44688	D	0.000422	T	0.61324	0.2338	M	0.91196	3.185	0.37861	D	0.929717	P	0.48911	0.917	P	0.48627	0.584	T	0.72037	-0.4411	10	0.48119	T	0.1	-13.5147	15.6185	0.76787	0.0:0.0:1.0:0.0	.	492	Q9NRM1	ENAM_HUMAN	K	492	ENSP00000379383:E492K	ENSP00000379383:E492K	E	+	1	0	ENAM	71727481	1.000000	0.71417	0.958000	0.39756	0.615000	0.37417	5.147000	0.64851	2.769000	0.95229	0.655000	0.94253	GAA		0.378	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		7	30	0	0	0	0	7	30				
RUFY3	22902	broad.mit.edu	37	4	71660553	71660554	+	IGR	DNP	GA	GA	AT			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:71660553_71660554GA>AT	ENST00000226328.4	+	0	4233				RUFY3_ENST00000381006.3_Missense_Mutation_p.R500N|RUFY3_ENST00000502653.1_Missense_Mutation_p.R447N	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3						negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AAAGAAAGAAGATTACAAAACG	0.371																																						uc003hfr.2		NA																	0					0						c.(1498-1500)AGA>AAT		RUN and FYVE domain containing 3 isoform 1																																				SO:0001628	intergenic_variant	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71660553_71660554GA>AT	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	Exception_encountered	4.37:g.71660553_71660554delinsAT						RUFY3_uc011cay.1_Missense_Mutation_p.R436N	p.R500N	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		14	2094_2095	+		all_hematologic(202;0.248)	335			Potential.		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	DNP	ENST00000226328.4	37	c.1499_1500GA>AT	CCDS3547.1																																																																																				0.371	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		6	90	0	0	0	0	6	90				
ADAMTS3	9508	broad.mit.edu	37	4	73280574	73280574	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:73280574C>G	ENST00000286657.4	-	4	655	c.619G>C	c.(619-621)Gaa>Caa	p.E207Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	207					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E207Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGAGCCTGTTCTACAGCTGAT	0.363																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(619-621)GAA>CAA		ADAM metallopeptidase with thrombospondin type 1							161.0	155.0	157.0					4																	73280574		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73280574C>G	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.619G>C	4.37:g.73280574C>G	ENSP00000286657:p.Glu207Gln						p.E207Q	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	656	-			207					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.619G>C	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	0.163	-1.079194	0.01903	.	.	ENSG00000156140	ENST00000286657	T	0.60797	0.16	5.16	4.18	0.49190	.	0.244548	0.26183	N	0.025852	T	0.34221	0.0890	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.17319	-1.0373	10	0.07482	T	0.82	.	7.6395	0.28286	0.0:0.7782:0.0:0.2218	.	207	O15072	ATS3_HUMAN	Q	207	ENSP00000286657:E207Q	ENSP00000286657:E207Q	E	-	1	0	ADAMTS3	73499438	0.003000	0.15002	0.936000	0.37596	0.609000	0.37215	1.172000	0.31908	2.392000	0.81423	0.655000	0.94253	GAA		0.363	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			21	52	0	0	0	0	21	52				
ANKRD17	26057	broad.mit.edu	37	4	73957704	73957704	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:73957704G>A	ENST00000358602.4	-	29	5757	c.5641C>T	c.(5641-5643)Ctt>Ttt	p.L1881F	ANKRD17_ENST00000330838.6_Missense_Mutation_p.L1630F|ANKRD17_ENST00000509867.2_Missense_Mutation_p.L1768F	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1881					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTAATGGAAGAGAAACTGGA	0.483																																						uc003hgp.2		NA																	0				ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(5641-5643)CTT>TTT		ankyrin repeat domain protein 17 isoform a							167.0	171.0	170.0					4																	73957704		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73957704G>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.5641C>T	4.37:g.73957704G>A	ENSP00000351416:p.Leu1881Phe					ANKRD17_uc003hgo.2_Missense_Mutation_p.L1768F|ANKRD17_uc003hgq.2_Missense_Mutation_p.L1630F|ANKRD17_uc003hgr.2_Missense_Mutation_p.L1880F	p.L1881F	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		29	5758	-	Breast(15;0.000295)		1881					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.5641C>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731886	0.69189	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.72282	-0.61;-0.6;-0.64	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000027	T	0.79776	0.4504	L	0.54323	1.7	0.47698	D	0.999497	D;D;D;D	0.64830	0.994;0.994;0.99;0.99	P;P;P;P	0.57776	0.827;0.827;0.676;0.676	T	0.81278	-0.1005	10	0.87932	D	0	.	19.4978	0.95081	0.0:0.0:1.0:0.0	.	1880;1630;1881;1768	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	F	1881;1288;1630;1768;265	ENSP00000351416:L1881F;ENSP00000332265:L1630F;ENSP00000427151:L1768F	ENSP00000332265:L1630F	L	-	1	0	ANKRD17	74176568	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.401000	0.73256	2.617000	0.88574	0.467000	0.42956	CTT		0.483	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		21	116	0	0	0	0	21	116				
AFM	173	broad.mit.edu	37	4	74361120	74361120	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:74361120G>A	ENST00000226355.3	+	9	1255	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	388	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGCAACACAGAAAACCCTCC	0.363																																						uc003hhb.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1162-1164)GAA>AAA		afamin precursor							73.0	79.0	77.0					4																	74361120		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74361120G>A	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1162G>A	4.37:g.74361120G>A	ENSP00000226355:p.Glu388Lys						p.E388K	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		9	1193	+	Breast(15;0.00102)		388			Albumin 2.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.1162G>A	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467760	0.26335	.	.	ENSG00000079557	ENST00000226355	T	0.76968	-1.06	4.01	1.22	0.21188	Serum albumin, conserved site (1);Serum albumin-like (1);Serum albumin, N-terminal (3);	0.486738	0.20556	N	0.090002	T	0.67496	0.2899	L	0.58669	1.825	0.22639	N	0.998908	B	0.28419	0.211	B	0.25614	0.062	T	0.57260	-0.7842	10	0.45353	T	0.12	.	4.587	0.12287	0.2102:0.1808:0.6091:0.0	.	388	P43652	AFAM_HUMAN	K	388	ENSP00000226355:E388K	ENSP00000226355:E388K	E	+	1	0	AFM	74579984	0.002000	0.14202	0.051000	0.19133	0.651000	0.38670	0.351000	0.20096	0.100000	0.17581	-0.172000	0.13284	GAA		0.363	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			15	44	0	0	0	0	15	44				
CCNG2	901	broad.mit.edu	37	4	78079754	78079754	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:78079754C>G	ENST00000316355.5	+	2	425	c.69C>G	c.(67-69)gtC>gtG	p.V23V	CCNG2_ENST00000354403.5_Silent_p.V23V|CCNG2_ENST00000395640.1_Silent_p.V23V|CCNG2_ENST00000502280.1_Silent_p.V23V|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000509972.1_Silent_p.V23V	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	23					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TGTTGAACGTCTACCTGGAAC	0.478																																						uc003hkq.3		NA																	0				ovary(2)|lung(1)	3						c.(67-69)GTC>GTG		cyclin G2							122.0	122.0	122.0					4																	78079754		2203	4300	6503	SO:0001819	synonymous_variant	901				cell cycle checkpoint|cell division|mitosis	cytoplasm		g.chr4:78079754C>G	BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.69C>G	4.37:g.78079754C>G						CCNG2_uc003hkn.3_Silent_p.V23V|CCNG2_uc011ccc.1_Silent_p.V23V|CCNG2_uc003hkp.3_Silent_p.V23V	p.V23V	NM_004354	NP_004345	Q16589	CCNG2_HUMAN			2	372	+			23					B4DF25|Q6FGA7|Q6FGC6	Silent	SNP	ENST00000316355.5	37	c.69C>G	CCDS3581.1																																																																																				0.478	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354		28	87	0	0	0	0	28	87				
FRAS1	80144	broad.mit.edu	37	4	79455676	79455676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:79455676C>T	ENST00000264895.6	+	71	11439	c.10999C>T	c.(10999-11001)Cag>Tag	p.Q3667*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3663					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACTGAATTTCAGCTCTGCAA	0.418																																						uc003hlb.2		NA																	0				large_intestine(5)	5						c.(10999-11001)CAG>TAG		Fraser syndrome 1							174.0	158.0	163.0					4																	79455676		1906	4121	6027	SO:0001587	stop_gained	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79455676C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10999C>T	4.37:g.79455676C>T	ENSP00000264895:p.Gln3667*						p.Q3667*	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			71	11439	+			3662			Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	ENST00000264895.6	37	c.10999C>T	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	11.984693|11.984693	0.99624|0.99624	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	.|.	.|.	.|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74966	.|0.3786	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73905	.|-0.3835	.|4	0.41790|.	T|.	0.15|.	.|.	18.9337|18.9337	0.92577|0.92577	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	3667|1895	.|.	ENSP00000264895:Q3667X|.	Q|S	+|+	1|2	0|0	FRAS1|FRAS1	79674700|79674700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.667000|7.667000	0.83888|0.83888	2.454000|2.454000	0.82982|0.82982	0.591000|0.591000	0.81541|0.81541	CAG|TCA		0.418	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				28	120	0	0	0	0	28	120				
LIN54	132660	broad.mit.edu	37	4	83858440	83858440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:83858440G>A	ENST00000340417.3	-	9	1921	c.1544C>T	c.(1543-1545)tCa>tTa	p.S515L	LIN54_ENST00000510557.1_Missense_Mutation_p.S294L|LIN54_ENST00000442461.2_Missense_Mutation_p.S294L|LIN54_ENST00000446851.2_Missense_Mutation_p.S294L|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000505397.1_Missense_Mutation_p.S515L|LIN54_ENST00000395283.2_Missense_Mutation_p.S426L|LIN54_ENST00000506560.1_Missense_Mutation_p.S426L	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	515					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				GGCCGACTCTGATGGGATTAT	0.289																																						uc003hnx.3		NA																	0					0						c.(1543-1545)TCA>TTA		lin-54 homolog isoform a							71.0	76.0	74.0					4																	83858440		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83858440G>A	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.1544C>T	4.37:g.83858440G>A	ENSP00000341947:p.Ser515Leu					LIN54_uc003hnz.3_Missense_Mutation_p.S294L|LIN54_uc003hny.3_Missense_Mutation_p.S114L|LIN54_uc010ijt.2_Missense_Mutation_p.S426L|LIN54_uc010iju.2_Missense_Mutation_p.S114L|LIN54_uc010ijv.2_Missense_Mutation_p.S294L	p.S515L	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN			9	1922	-		Hepatocellular(203;0.114)	515					Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.1544C>T	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055632	0.75960	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	5.36	5.36	0.76844	.	0.199281	0.45361	D	0.000378	T	0.44561	0.1299	N	0.19112	0.55	0.80722	D	1	B;B;B	0.26809	0.079;0.085;0.16	B;B;B	0.26094	0.056;0.017;0.066	T	0.29640	-1.0005	9	0.24483	T	0.36	-21.3562	17.6132	0.88060	0.0:0.0:1.0:0.0	.	426;387;515	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	L	515;426;294;294;294;426;515	.	ENSP00000341947:S515L	S	-	2	0	LIN54	84077464	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.641000	0.67881	2.658000	0.90341	0.650000	0.86243	TCA		0.289	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		13	54	0	0	0	0	13	54				
LIN54	132660	broad.mit.edu	37	4	83859644	83859644	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:83859644G>A	ENST00000340417.3	-	8	1831	c.1454C>T	c.(1453-1455)tCa>tTa	p.S485L	LIN54_ENST00000510557.1_Missense_Mutation_p.S264L|LIN54_ENST00000442461.2_Missense_Mutation_p.S264L|LIN54_ENST00000446851.2_Missense_Mutation_p.S264L|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000505397.1_Missense_Mutation_p.S485L|LIN54_ENST00000395283.2_Missense_Mutation_p.S396L|LIN54_ENST00000506560.1_Missense_Mutation_p.S396L	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	485					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TGATACATATGAAGACTGCTG	0.353																																						uc003hnx.3		NA																	0					0						c.(1453-1455)TCA>TTA		lin-54 homolog isoform a							118.0	115.0	116.0					4																	83859644		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83859644G>A	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.1454C>T	4.37:g.83859644G>A	ENSP00000341947:p.Ser485Leu					LIN54_uc003hnz.3_Missense_Mutation_p.S264L|LIN54_uc003hny.3_Missense_Mutation_p.S84L|LIN54_uc010ijt.2_Missense_Mutation_p.S396L|LIN54_uc010iju.2_Missense_Mutation_p.S84L|LIN54_uc010ijv.2_Missense_Mutation_p.S264L	p.S485L	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN			8	1832	-		Hepatocellular(203;0.114)	485					Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.1454C>T	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433353	0.62844	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	5.42	5.42	0.78866	.	0.335216	0.32935	N	0.005475	T	0.37679	0.1012	N	0.19112	0.55	0.80722	D	1	B;B;P	0.39480	0.169;0.037;0.675	B;B;B	0.31614	0.051;0.01;0.133	T	0.25745	-1.0123	9	0.34782	T	0.22	-16.1776	19.2109	0.93755	0.0:0.0:1.0:0.0	.	396;357;485	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	L	485;396;264;264;264;396;485	.	ENSP00000341947:S485L	S	-	2	0	LIN54	84078668	1.000000	0.71417	0.998000	0.56505	0.444000	0.32077	7.261000	0.78400	2.527000	0.85204	0.591000	0.81541	TCA		0.353	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		4	55	0	0	0	0	4	55				
WDFY3	23001	broad.mit.edu	37	4	85672736	85672736	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:85672736G>C	ENST00000295888.4	-	36	6280	c.5873C>G	c.(5872-5874)gCt>gGt	p.A1958G	WDFY3_ENST00000322366.6_Missense_Mutation_p.A1958G	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1958					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAACTTTTTAGCCGGGTGATT	0.458																																						uc003hpd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(5872-5874)GCT>GGT		WD repeat and FYVE domain containing 3 isoform							140.0	133.0	135.0					4																	85672736		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85672736G>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5873C>G	4.37:g.85672736G>C	ENSP00000295888:p.Ala1958Gly						p.A1958G	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	36	6281	-		Hepatocellular(203;0.114)	1958					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.5873C>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	33	5.226372	0.95173	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.66995	-0.24;-0.24	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	L	0.47716	1.5	0.80722	D	1	D	0.59357	0.985	P	0.53360	0.724	T	0.71570	-0.4553	10	0.45353	T	0.12	.	19.9997	0.97405	0.0:0.0:1.0:0.0	.	1958	Q8IZQ1	WDFY3_HUMAN	G	1958	ENSP00000318466:A1958G;ENSP00000295888:A1958G	ENSP00000295888:A1958G	A	-	2	0	WDFY3	85891760	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	9.471000	0.97696	2.717000	0.92951	0.585000	0.79938	GCT		0.458	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		38	91	0	0	0	0	38	91				
PAPSS1	9061	broad.mit.edu	37	4	108578142	108578142	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:108578142C>T	ENST00000265174.4	-	7	1077	c.805G>A	c.(805-807)Gtt>Att	p.V269I	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	269					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TCTGCCAAAACCTGCACCCAC	0.393																																						uc003hyk.2		NA																	0				ovary(1)	1						c.(805-807)GTT>ATT		3'-phosphoadenosine 5'-phosphosulfate synthase							109.0	105.0	107.0					4																	108578142		2203	4300	6503	SO:0001583	missense	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	g.chr4:108578142C>T	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.805G>A	4.37:g.108578142C>T	ENSP00000265174:p.Val269Ile					PAPSS1_uc011cfh.1_RNA	p.V269I	NM_005443	NP_005434	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	7	889	-		Hepatocellular(203;0.217)	269			Adenylyl-sulfate kinase.		O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	c.805G>A	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001832	0.93227	.	.	ENSG00000138801	ENST00000265174	T	0.23348	1.91	6.16	6.16	0.99307	Sulphate adenylyltransferase (1);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	M	0.80847	2.515	0.80722	D	1	P	0.43477	0.808	P	0.61328	0.887	T	0.45056	-0.9287	10	0.45353	T	0.12	-26.3851	20.8598	0.99761	0.0:1.0:0.0:0.0	.	269	O43252	PAPS1_HUMAN	I	269	ENSP00000265174:V269I	ENSP00000265174:V269I	V	-	1	0	PAPSS1	108797591	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.294000	0.78760	2.937000	0.99478	0.650000	0.86243	GTT		0.393	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			11	74	0	0	0	0	11	74				
TNIP3	79931	broad.mit.edu	37	4	122078303	122078303	+	Silent	SNP	C	C	T	rs145809864|rs368649198		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:122078303C>T	ENST00000509841.1	-	7	618	c.540G>A	c.(538-540)caG>caA	p.Q180Q	TNIP3_ENST00000454328.1_Silent_p.Q103Q|TNIP3_ENST00000507879.1_Silent_p.Q173Q|TNIP3_ENST00000057513.3_Silent_p.Q103Q	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CGTCCTCTCTCTGCCTGTCGT	0.642																																						uc010ing.2		NA																	0				ovary(1)	1						c.(307-309)CAG>CAA		TNFAIP3 interacting protein 3							169.0	198.0	188.0					4																	122078303		2203	4300	6503	SO:0001819	synonymous_variant	79931							g.chr4:122078303C>T	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.540G>A	4.37:g.122078303C>T						TNIP3_uc010inh.2_Silent_p.Q103Q|TNIP3_uc011cgj.1_Silent_p.Q161Q|TNIP3_uc010ini.2_Silent_p.Q103Q	p.Q103Q	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN			4	505	-			103			Potential.			Silent	SNP	ENST00000509841.1	37	c.309G>A	CCDS58926.1																																																																																				0.642	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		111	275	0	0	0	0	111	275				
LRBA	987	broad.mit.edu	37	4	151773393	151773393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:151773393G>A	ENST00000357115.3	-	23	3712	c.3469C>T	c.(3469-3471)Caa>Taa	p.Q1157*	LRBA_ENST00000507224.1_Nonsense_Mutation_p.Q1157*|LRBA_ENST00000535741.1_Nonsense_Mutation_p.Q1157*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.Q1157*	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1157						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTTCCTTCTTGAAATATTAAT	0.383																																						uc010ipj.2		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(3469-3471)CAA>TAA		LPS-responsive vesicle trafficking, beach and							72.0	73.0	73.0					4																	151773393		2203	4300	6503	SO:0001587	stop_gained	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151773393G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.3469C>T	4.37:g.151773393G>A	ENSP00000349629:p.Gln1157*					LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Nonsense_Mutation_p.Q1157*	p.Q1157*	NM_006726	NP_006717	P50851	LRBA_HUMAN			23	3943	-	all_hematologic(180;0.151)		1157					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Nonsense_Mutation	SNP	ENST00000357115.3	37	c.3469C>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	41	8.854799	0.98978	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.	.	.	5.87	2.12	0.27331	.	0.634205	0.15628	N	0.252504	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	6.1902	0.20520	0.0605:0.2256:0.5:0.2138	.	.	.	.	X	1157	.	ENSP00000349629:Q1157X	Q	-	1	0	LRBA	151992843	0.731000	0.28111	0.071000	0.20095	0.026000	0.11368	0.652000	0.24888	0.140000	0.18849	0.655000	0.94253	CAA		0.383	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			21	66	0	0	0	0	21	66				
TIGD4	201798	broad.mit.edu	37	4	153692046	153692046	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:153692046C>G	ENST00000304337.2	-	2	931	c.111G>C	c.(109-111)aaG>aaC	p.K37N		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	37	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CTGCTTTTTTCTTGCCACTTT	0.358																																						uc003imy.2		NA																	0				ovary(1)	1						c.(109-111)AAG>AAC		tigger transposable element derived 4							111.0	109.0	110.0					4																	153692046		2203	4300	6503	SO:0001583	missense	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153692046C>G	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.111G>C	4.37:g.153692046C>G	ENSP00000355162:p.Lys37Asn						p.K37N	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN			2	893	-	all_hematologic(180;0.093)		37			HTH psq-type.		Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	37	c.111G>C	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303022	0.60195	.	.	ENSG00000169989	ENST00000304337	T	0.46819	0.86	6.17	6.17	0.99709	Homeodomain-related (1);Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Centromere protein Cenp-B, DNA-binding domain 1 (1);	0.000000	0.53938	D	0.000049	T	0.55065	0.1897	L	0.29908	0.895	0.42707	D	0.993634	D	0.59357	0.985	P	0.60012	0.867	T	0.44143	-0.9347	10	0.31617	T	0.26	-20.6943	18.6676	0.91497	0.0:1.0:0.0:0.0	.	37	Q8IY51	TIGD4_HUMAN	N	37	ENSP00000355162:K37N	ENSP00000355162:K37N	K	-	3	2	TIGD4	153911496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.822000	0.62686	2.941000	0.99782	0.655000	0.94253	AAG		0.358	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		29	55	0	0	0	0	29	55				
DCHS2	54798	broad.mit.edu	37	4	155278412	155278412	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:155278412C>G	ENST00000357232.4	-	6	758	c.759G>C	c.(757-759)atG>atC	p.M253I	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	253	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		ctaaactgttcattacttcct	0.443																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(757-759)ATG>ATC		dachsous 2 isoform 1							142.0	149.0	146.0					4																	155278412		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155278412C>G	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.759G>C	4.37:g.155278412C>G	ENSP00000349768:p.Met253Ile					DCHS2_uc003inx.2_Intron	p.M253I	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	6	759	-	all_hematologic(180;0.208)	Renal(120;0.0854)	253			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.759G>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	1.486	-0.555996	0.03967	.	.	ENSG00000197410	ENST00000357232	T	0.52983	0.64	0.772	-0.242	0.13039	Cadherin (1);	.	.	.	.	T	0.20495	0.0493	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19910	-1.0291	9	0.17832	T	0.49	.	2.8975	0.05694	0.0:0.6011:0.0:0.3989	.	253	Q6V1P9	PCD23_HUMAN	I	253	ENSP00000349768:M253I	ENSP00000349768:M253I	M	-	3	0	DCHS2	155497862	0.041000	0.20044	0.015000	0.15790	0.035000	0.12851	0.462000	0.21956	-0.143000	0.11334	0.430000	0.28490	ATG		0.443	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		30	102	0	0	0	0	30	102				
GRIA2	2891	broad.mit.edu	37	4	158224904	158224904	+	Missense_Mutation	SNP	C	C	A	rs201110038		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:158224904C>A	ENST00000264426.9	+	3	709	c.430C>A	c.(430-432)Caa>Aaa	p.Q144K	GRIA2_ENST00000507898.1_Missense_Mutation_p.Q97K|GRIA2_ENST00000449365.1_Missense_Mutation_p.Q97K|GRIA2_ENST00000296526.7_Missense_Mutation_p.Q144K|GRIA2_ENST00000393815.2_Missense_Mutation_p.Q97K	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	144					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGAATACTATCAATGGGACAA	0.443													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18875	0.0		0.0	False		,,,				2504	0.0					uc003ipm.3		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(430-432)CAA>AAA		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						160.0	142.0	148.0					4																	158224904		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158224904C>A		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.430C>A	4.37:g.158224904C>A	ENSP00000264426:p.Gln144Lys					GRIA2_uc011cit.1_Missense_Mutation_p.Q97K|GRIA2_uc003ipl.3_Missense_Mutation_p.Q144K|GRIA2_uc003ipk.3_Missense_Mutation_p.Q97K|GRIA2_uc010iqh.1_RNA	p.Q144K	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	3	889	+	all_hematologic(180;0.24)	Renal(120;0.0458)	144			Extracellular (Potential).		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.430C>A	CCDS43274.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	6.283	0.420234	0.11928	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000505888;ENST00000449365;ENST00000503437	D;D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.8	5.8	0.92144	Extracellular ligand-binding receptor (1);	0.175179	0.50627	D	0.000113	T	0.51805	0.1696	N	0.00182	-1.905	0.47547	D	0.999458	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.60915	-0.7168	9	.	.	.	.	16.315	0.82915	0.0:0.8679:0.1321:0.0	.	144;144;97	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	K	97;97;144;144;97;97;17	ENSP00000426845:Q97K;ENSP00000377403:Q97K;ENSP00000296526:Q144K;ENSP00000264426:Q144K;ENSP00000422038:Q97K;ENSP00000389837:Q97K;ENSP00000426784:Q17K	.	Q	+	1	0	GRIA2	158444354	1.000000	0.71417	0.979000	0.43373	0.999000	0.98932	4.941000	0.63540	2.737000	0.93849	0.650000	0.86243	CAA		0.443	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			33	106	1	0	1.08e-15	1.17e-15	33	106				
FNIP2	57600	broad.mit.edu	37	4	159791564	159791564	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:159791564C>T	ENST00000264433.6	+	14	2967	c.2892C>T	c.(2890-2892)acC>acT	p.T964T	FNIP2_ENST00000379346.3_Silent_p.T987T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	964					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T964T(1)|p.T290T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TTCATGGGACCGGCAGTGATG	0.562																																						uc003iqe.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(2890-2892)ACC>ACT		folliculin interacting protein 2							70.0	71.0	71.0					4																	159791564		2116	4241	6357	SO:0001819	synonymous_variant	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159791564C>T	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2892C>T	4.37:g.159791564C>T							p.T964T	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	14	3075	+	all_hematologic(180;0.24)		964					Q05DC3|Q96I31|Q9H994	Silent	SNP	ENST00000264433.6	37	c.2892C>T	CCDS47155.1																																																																																				0.562	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		16	31	0	0	0	0	16	31				
C4orf45	152940	broad.mit.edu	37	4	159836377	159836377	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:159836377G>A	ENST00000434826.2	-	4	575	c.491C>T	c.(490-492)tCa>tTa	p.S164L	C4orf45_ENST00000508011.1_5'UTR	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	164										large_intestine(2)|lung(3)	5						TCTTGGCAATGATGACTTACA	0.423																																						uc003iqf.1		NA																	0					0						c.(490-492)TCA>TTA		hypothetical protein LOC152940							112.0	105.0	107.0					4																	159836377		1908	4135	6043	SO:0001583	missense	152940							g.chr4:159836377G>A		CCDS47156.1	4q32.1	2012-03-02			ENSG00000164123	ENSG00000164123			26342	protein-coding gene	gene with protein product							Standard	NM_152543		Approved	FLJ25371	uc003iqf.1	Q96LM5	OTTHUMG00000161988	ENST00000434826.2:c.491C>T	4.37:g.159836377G>A	ENSP00000412215:p.Ser164Leu					C4orf45_uc010iqt.1_RNA	p.S164L	NM_152543	NP_689756	Q96LM5	CD045_HUMAN			4	576	-			164					A8MPU3|C9J0T8	Missense_Mutation	SNP	ENST00000434826.2	37	c.491C>T	CCDS47156.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696314	0.30052	.	.	ENSG00000164123	ENST00000434826	T	0.14516	2.5	4.04	-2.53	0.06326	.	3.565830	0.00812	N	0.001500	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24476	-1.0159	9	.	.	.	0.4725	0.8247	0.01118	0.3078:0.3023:0.2361:0.1537	.	164	Q96LM5	CD045_HUMAN	L	164	ENSP00000412215:S164L	.	S	-	2	0	C4orf45	160055827	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.234000	0.02931	-0.198000	0.10333	-0.140000	0.14226	TCA		0.423	C4orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366636.1	NM_152543		12	24	0	0	0	0	12	24				
NEK1	4750	broad.mit.edu	37	4	170523167	170523167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:170523167G>A	ENST00000439128.2	-	3	846	c.206C>T	c.(205-207)tCa>tTa	p.S69L	NEK1_ENST00000511633.1_Missense_Mutation_p.S69L|NEK1_ENST00000507142.1_Missense_Mutation_p.S69L|NEK1_ENST00000512193.1_Missense_Mutation_p.S69L|NEK1_ENST00000510533.1_Missense_Mutation_p.S69L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	69	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ACCTTCAAATGATTCTCTATA	0.328																																						uc003isb.1		NA																	0				lung(3)|ovary(2)|large_intestine(1)	6						c.(205-207)TCA>TTA		NIMA-related kinase 1							203.0	185.0	191.0					4																	170523167		1824	4083	5907	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170523167G>A	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.206C>T	4.37:g.170523167G>A	ENSP00000408020:p.Ser69Leu					NEK1_uc003isc.1_Missense_Mutation_p.S69L|NEK1_uc003isd.1_Missense_Mutation_p.S69L|NEK1_uc003ise.1_Missense_Mutation_p.S69L|NEK1_uc003isf.1_Missense_Mutation_p.S69L|NEK1_uc003isg.1_5'Flank	p.S69L	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	3	698	-		Prostate(90;0.00601)|Renal(120;0.0183)	69			Protein kinase.		G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.206C>T	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	G	35	5.501446	0.96371	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.86	5.86	0.93980	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	0.53938	D	0.000047	T	0.77370	0.4120	L	0.53561	1.675	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0	T	0.77032	-0.2738	10	0.62326	D	0.03	.	19.7677	0.96349	0.0:0.0:1.0:0.0	.	69;69;69;69;69	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	L	69	ENSP00000408020:S69L;ENSP00000423332:S69L;ENSP00000427653:S69L;ENSP00000424757:S69L;ENSP00000424938:S69L	ENSP00000408020:S69L	S	-	2	0	NEK1	170759742	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.346000	0.97056	2.763000	0.94921	0.650000	0.86243	TCA		0.328	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			13	75	0	0	0	0	13	75				
HMGB2	3148	broad.mit.edu	37	4	174254786	174254786	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:174254786G>A	ENST00000296503.5	-	2	888	c.15C>T	c.(13-15)gaC>gaT	p.D5D	HMGB2_ENST00000446922.2_Silent_p.D5D|HMGB2_ENST00000438704.2_Silent_p.D5D			P26583	HMGB2_HUMAN	high mobility group box 2	5					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GCTTGTTGGGGTCTCCTTTAC	0.642																																						uc011ckc.1		NA																	0					0						c.(13-15)GAC>GAT		high-mobility group box 2							62.0	65.0	64.0					4																	174254786		2203	4300	6503	SO:0001819	synonymous_variant	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174254786G>A		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.15C>T	4.37:g.174254786G>A						HMGB2_uc003ita.3_Silent_p.D5D|HMGB2_uc003itb.2_Silent_p.D5D|HMGB2_uc003itc.2_Silent_p.D5D	p.D5D	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	135	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	5					B2R4K8|D3DP37|Q5U072	Silent	SNP	ENST00000296503.5	37	c.15C>T	CCDS3816.1																																																																																				0.642	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		4	64	0	0	0	0	4	64				
AHRR	57491	broad.mit.edu	37	5	434023	434023	+	Missense_Mutation	SNP	C	C	T	rs368948224		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:434023C>T	ENST00000505113.1	+	11	1224	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W	AHRR_ENST00000316418.5_Missense_Mutation_p.R412W|AHRR_ENST00000506456.1_Missense_Mutation_p.R250W|AHRR_ENST00000512529.1_Missense_Mutation_p.R240W	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	394					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AGTGACAGGGCGGAGGGAGAC	0.632																																						uc003jav.2		NA																	0				breast(2)	2						c.(1234-1236)CGG>TGG		arylhydrocarbon receptor repressor		C	TRP/ARG,TRP/ARG	0,4252		0,0,2126	33.0	44.0	41.0		1180,1234	-0.1	0.0	5		41	1,8479		0,1,4239	no	missense,missense	AHRR	NM_001242412.1,NM_020731.4	101,101	0,1,6365	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging,probably-damaging	394/702,412/720	434023	1,12731	2126	4240	6366	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:434023C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1180C>T	5.37:g.434023C>T	ENSP00000424601:p.Arg394Trp					AHRR_uc003jaw.2_Missense_Mutation_p.R390W|AHRR_uc010isy.2_Missense_Mutation_p.R240W|AHRR_uc010isz.2_Missense_Mutation_p.R390W|AHRR_uc003jax.2_Missense_Mutation_p.R153W|AHRR_uc003jay.2_Missense_Mutation_p.R250W|AHRR_uc003jaz.2_Missense_Mutation_p.R11W	p.R412W	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		12	1278	+			394					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.1234C>T	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289244	0.40494	0.0	1.18E-4	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456;ENST00000511487	T;T;T;T;T	0.51817	2.12;2.12;1.81;1.81;0.69	3.96	-0.0744	0.13731	.	2.937720	0.01207	N	0.007737	T	0.43634	0.1256	L	0.39898	1.24	0.09310	N	1	D;D;D	0.64830	0.994;0.978;0.987	B;B;P	0.46825	0.432;0.328;0.528	T	0.25572	-1.0128	10	0.59425	D	0.04	.	3.3431	0.07126	0.1801:0.5024:0.0:0.3175	.	250;394;412	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	W	394;412;240;250;49	ENSP00000424601:R394W;ENSP00000323816:R412W;ENSP00000424880:R240W;ENSP00000426932:R250W;ENSP00000426076:R49W	ENSP00000323816:R412W	R	+	1	2	AHRR	487023	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.215000	0.17562	-0.299000	0.08909	0.450000	0.29827	CGG		0.632	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		5	37	0	0	0	0	5	37				
ADAMTS16	170690	broad.mit.edu	37	5	5306808	5306808	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:5306808G>A	ENST00000274181.7	+	21	3516	c.3378G>A	c.(3376-3378)tcG>tcA	p.S1126S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1126					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CGGGACCCTCGAGGGGCAGCT	0.672																																						uc003jdl.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(3376-3378)TCG>TCA		ADAM metallopeptidase with thrombospondin type 1							19.0	20.0	20.0					5																	5306808		1905	4130	6035	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5306808G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3378G>A	5.37:g.5306808G>A							p.S1126S	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			21	3516	+			1126					C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.3378G>A	CCDS43299.1																																																																																				0.672	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		4	34	0	0	0	0	4	34				
CDH10	1008	broad.mit.edu	37	5	24511615	24511615	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:24511615G>C	ENST00000264463.4	-	6	1330	c.823C>G	c.(823-825)Cat>Gat	p.H275D		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	275	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H275Y(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACTCGAAGATGAATAGTGTCT	0.418										HNSCC(23;0.051)																												uc003jgr.1		NA																	1	Substitution - Missense(1)		breast(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(823-825)CAT>GAT		cadherin 10, type 2 preproprotein							56.0	52.0	53.0					5																	24511615		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24511615G>C	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.823C>G	5.37:g.24511615G>C	ENSP00000264463:p.His275Asp	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.H275D	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	6	1155	-			275			Cadherin 3.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.823C>G	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082155	0.55861	.	.	ENSG00000040731	ENST00000264463	T	0.52057	0.68	4.98	4.98	0.66077	Cadherin (4);Cadherin-like (1);	0.163445	0.52532	D	0.000062	T	0.41971	0.1182	L	0.33245	0.995	0.47778	D	0.999513	B	0.18166	0.026	B	0.23419	0.046	T	0.33574	-0.9863	10	0.56958	D	0.05	.	17.2256	0.86969	0.0:0.0:1.0:0.0	.	275	Q9Y6N8	CAD10_HUMAN	D	275	ENSP00000264463:H275D	ENSP00000264463:H275D	H	-	1	0	CDH10	24547372	1.000000	0.71417	0.995000	0.50966	0.939000	0.58152	3.911000	0.56378	2.293000	0.77203	0.650000	0.86243	CAT		0.418	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		7	28	0	0	0	0	7	28				
SLC1A3	6507	broad.mit.edu	37	5	36686317	36686317	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:36686317G>A	ENST00000265113.4	+	10	2051	c.1575G>A	c.(1573-1575)ctG>ctA	p.L525L	SLC1A3_ENST00000381918.3_Silent_p.L480L|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	525					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATATCAACTGATTGCACAGG	0.393																																						uc003jkj.3		NA																	0					0						c.(1573-1575)CTG>CTA		solute carrier family 1 (glial high affinity	L-Glutamic Acid(DB00142)						152.0	153.0	152.0					5																	36686317		2203	4300	6503	SO:0001819	synonymous_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36686317G>A		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.1575G>A	5.37:g.36686317G>A						SLC1A3_uc011cox.1_Silent_p.L418L|SLC1A3_uc010iuy.2_Silent_p.L480L	p.L525L	NM_004172	NP_004163	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	2051	+	all_lung(31;0.000245)		525					B2R5T3|Q4JCQ8	Silent	SNP	ENST00000265113.4	37	c.1575G>A	CCDS3919.1																																																																																				0.393	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		27	185	0	0	0	0	27	185				
NUP155	9631	broad.mit.edu	37	5	37307413	37307413	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:37307413C>G	ENST00000231498.3	-	25	3092	c.2889G>C	c.(2887-2889)caG>caC	p.Q963H	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Missense_Mutation_p.Q899H|NUP155_ENST00000381843.2_Missense_Mutation_p.Q904H	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	963					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTGGAAGGCCTGAAGTCCAA	0.368																																						uc003jku.1		NA																	0				ovary(1)	1						c.(2887-2889)CAG>CAC		nucleoporin 155kDa isoform 1							112.0	104.0	107.0					5																	37307413		2203	4300	6503	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37307413C>G	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2889G>C	5.37:g.37307413C>G	ENSP00000231498:p.Gln963His					NUP155_uc003jkt.1_Missense_Mutation_p.Q904H|NUP155_uc010iuz.1_Missense_Mutation_p.Q899H	p.Q963H	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		25	3007	-	all_lung(31;0.000137)		963					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.2889G>C	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.071386	0.55646	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.78595	-1.17;-1.17;-1.19	5.3	2.57	0.30868	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79569	0.4468	L	0.39633	1.23	0.47065	D	0.999307	D;D	0.69078	0.997;0.991	D;D	0.67231	0.935;0.95	T	0.75836	-0.3177	10	0.48119	T	0.1	-1.4353	8.583	0.33642	0.0:0.6281:0.0:0.3719	.	899;963	E9PF10;O75694	.;NU155_HUMAN	H	963;904;925;899	ENSP00000231498:Q963H;ENSP00000371265:Q904H;ENSP00000422019:Q899H	ENSP00000231498:Q963H	Q	-	3	2	NUP155	37343170	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.412000	0.34714	0.249000	0.21456	-0.150000	0.13652	CAG		0.368	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		12	65	0	0	0	0	12	65				
LIFR	3977	broad.mit.edu	37	5	38481936	38481936	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:38481936C>G	ENST00000263409.4	-	20	3217	c.3055G>C	c.(3055-3057)Gaa>Caa	p.E1019Q	LIFR_ENST00000453190.2_Missense_Mutation_p.E1019Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1019					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AAGTCCTCTTCTGCAGCTATA	0.443			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	uc010ive.1		NA		Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				ovary(3)|large_intestine(1)	4						c.(3055-3057)GAA>CAA		leukemia inhibitory factor receptor precursor							105.0	103.0	103.0					5																	38481936		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38481936C>G	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.3055G>C	5.37:g.38481936C>G	ENSP00000263409:p.Glu1019Gln					LIFR_uc003jli.2_Missense_Mutation_p.E1019Q	p.E1019Q	NM_001127671	NP_001121143	P42702	LIFR_HUMAN			20	3387	-	all_lung(31;0.00021)		1019			Cytoplasmic (Potential).		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.3055G>C	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773284	0.31411	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.61158	0.13;0.13	5.94	5.94	0.96194	.	1.096810	0.06660	N	0.764340	T	0.60314	0.2259	L	0.51422	1.61	0.27375	N	0.955583	P	0.43477	0.808	B	0.37943	0.261	T	0.63690	-0.6580	10	0.54805	T	0.06	-6.2414	20.3552	0.98837	0.0:1.0:0.0:0.0	.	1019	P42702	LIFR_HUMAN	Q	1019	ENSP00000263409:E1019Q;ENSP00000398368:E1019Q	ENSP00000263409:E1019Q	E	-	1	0	LIFR	38517693	0.767000	0.28508	0.047000	0.18901	0.234000	0.25298	5.114000	0.64648	2.812000	0.96745	0.557000	0.71058	GAA		0.443	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		20	99	0	0	0	0	20	99				
MROH2B	133558	broad.mit.edu	37	5	41057214	41057214	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:41057214G>C	ENST00000399564.4	-	9	1366	c.916C>G	c.(916-918)Cta>Gta	p.L306V	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	306																	GTCCTACCTAGAATGAGAAAA	0.413																																						uc003jmj.3		NA																	0				ovary(6)|central_nervous_system(2)	8						c.(916-918)CTA>GTA		HEAT repeat family member 7B2							73.0	67.0	69.0					5																	41057214		1846	4111	5957	SO:0001583	missense	133558						binding	g.chr5:41057214G>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.916C>G	5.37:g.41057214G>C	ENSP00000382476:p.Leu306Val					HEATR7B2_uc003jmi.3_Intron	p.L306V	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			9	1406	-			306			HEAT 3.		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.916C>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282224	0.59867	.	.	ENSG00000171495	ENST00000296803;ENST00000399564	T	0.71341	-0.56	5.09	3.31	0.37934	Armadillo-type fold (1);	0.000000	0.39146	N	0.001441	T	0.79997	0.4543	M	0.73962	2.25	0.33949	D	0.644207	D	0.67145	0.996	D	0.80764	0.994	T	0.82554	-0.0399	10	0.42905	T	0.14	.	7.547	0.27772	0.1914:0.0:0.8086:0.0	.	306	Q7Z745	HTRB2_HUMAN	V	10;306	ENSP00000382476:L306V	ENSP00000296803:L10V	L	-	1	2	HEATR7B2	41092971	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.843000	0.39259	0.852000	0.35287	0.555000	0.69702	CTA		0.413	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		10	44	0	0	0	0	10	44				
PARP8	79668	broad.mit.edu	37	5	50118221	50118221	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:50118221G>A	ENST00000281631.5	+	17	2005	c.1847G>A	c.(1846-1848)aGa>aAa	p.R616K	PARP8_ENST00000514342.2_Missense_Mutation_p.R327K|PARP8_ENST00000505554.1_Missense_Mutation_p.R595K|PARP8_ENST00000514067.2_Missense_Mutation_p.R574K|PARP8_ENST00000505697.2_Missense_Mutation_p.R616K|PARP8_ENST00000503750.2_Missense_Mutation_p.R574K|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	616						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ACTTCTATCAGAGAAATGACA	0.308																																						uc003jon.3		NA																	0				lung(3)|large_intestine(1)|ovary(1)	5						c.(1846-1848)AGA>AAA		poly (ADP-ribose) polymerase family, member 8							112.0	115.0	114.0					5																	50118221		2203	4297	6500	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50118221G>A	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1847G>A	5.37:g.50118221G>A	ENSP00000281631:p.Arg616Lys					PARP8_uc011cpz.1_Missense_Mutation_p.R508K|PARP8_uc003joo.2_Missense_Mutation_p.R616K|PARP8_uc003jop.2_Missense_Mutation_p.R574K	p.R616K	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			18	2029	+		Lung NSC(810;0.0305)|Breast(144;0.222)	616					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.1847G>A	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170036	0.94768	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.64724	0.2624	L	0.28274	0.84	0.80722	D	1	P;P;D	0.54207	0.932;0.902;0.965	P;D;B	0.63033	0.867;0.91;0.437	T	0.60239	-0.7302	8	.	.	.	-21.7546	19.942	0.97168	0.0:0.0:1.0:0.0	.	508;574;616	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	K	616;574;327;616;574;595;327;327	.	.	R	+	2	0	PARP8	50153978	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.948000	0.93006	2.720000	0.93068	0.555000	0.69702	AGA		0.308	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		18	96	0	0	0	0	18	96				
ADAMTS6	11174	broad.mit.edu	37	5	64558671	64558671	+	IGR	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:64558671G>A								ADAMTS6 (64079 upstream) : ADAMTS6 (34363 downstream)																							TCTTAGGGATGAGGAGACGCC	0.537																																						uc003jtp.2		NA																	0					0						c.(1738-1740)TCA>TTA		ADAM metallopeptidase with thrombospondin type 1							45.0	39.0	41.0					5																	64558671		2203	4300	6503	SO:0001628	intergenic_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64558671G>A																													5.37:g.64558671G>A						ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.S201L	p.S580L	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	13	2553	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	580			TSP type-1 1.			Missense_Mutation	SNP		37	c.1739C>T		.	.	.	.	.	.	.	.	.	.	G	23.7	4.451814	0.84209	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680	T;T	0.50001	0.76;0.76	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.47192	0.1432	N	0.04994	-0.135	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.77557	0.977;0.99	T	0.43750	-0.9372	10	0.12430	T	0.62	.	18.919	0.92518	0.0:0.0:1.0:0.0	.	580;580	D6R9L6;Q9UKP5	.;ATS6_HUMAN	L	580;530;580	ENSP00000370443:S580L;ENSP00000423551:S580L	ENSP00000261306:S530L	S	-	2	0	ADAMTS6	64594427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.386000	0.97228	2.778000	0.95560	0.655000	0.94253	TCA	0	0.537									7	12	0	0	0	0	7	12				
BDP1	55814	broad.mit.edu	37	5	70786860	70786860	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:70786860G>A	ENST00000358731.4	+	11	1805	c.1542G>A	c.(1540-1542)aaG>aaA	p.K514K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	514					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AATGCAGTAAGGAGCAGATGC	0.383																																						uc003kbp.1		NA																	0				skin(2)	2						c.(1540-1542)AAG>AAA		transcription factor-like nuclear regulator							126.0	117.0	120.0					5																	70786860		1903	4121	6024	SO:0001819	synonymous_variant	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70786860G>A	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1542G>A	5.37:g.70786860G>A						BDP1_uc003kbn.1_Silent_p.K514K|BDP1_uc003kbo.2_Silent_p.K514K	p.K514K	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	11	1805	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	514					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	c.1542G>A	CCDS43328.1																																																																																				0.383	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		7	34	0	0	0	0	7	34				
MAP1B	4131	broad.mit.edu	37	5	71494026	71494026	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:71494026G>C	ENST00000296755.7	+	5	5142	c.4844G>C	c.(4843-4845)aGa>aCa	p.R1615T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1615					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAATGCCCAAGACCGATGTCA	0.438																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(4843-4845)AGA>ACA		microtubule-associated protein 1B							108.0	108.0	108.0					5																	71494026		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71494026G>C	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4844G>C	5.37:g.71494026G>C	ENSP00000296755:p.Arg1615Thr					MAP1B_uc010iyw.1_Missense_Mutation_p.R1632T|MAP1B_uc010iyx.1_Missense_Mutation_p.R1489T|MAP1B_uc010iyy.1_Missense_Mutation_p.R1489T	p.R1615T	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	5085	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1615					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.4844G>C	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472450	0.43942	.	.	ENSG00000131711	ENST00000296755	T	0.03745	3.82	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000002	T	0.10680	0.0261	N	0.24115	0.695	0.58432	D	0.999996	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.22765	-1.0207	10	0.56958	D	0.05	-20.0665	18.7095	0.91651	0.0:0.0:1.0:0.0	.	1489;1615	A2BDK6;P46821	.;MAP1B_HUMAN	T	1615	ENSP00000296755:R1615T	ENSP00000296755:R1615T	R	+	2	0	MAP1B	71529782	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	9.869000	0.99810	2.435000	0.82474	0.313000	0.20887	AGA		0.438	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		9	107	0	0	0	0	9	107				
CMYA5	202333	broad.mit.edu	37	5	79029812	79029812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:79029812C>T	ENST00000446378.2	+	2	5255	c.5224C>T	c.(5224-5226)Cag>Tag	p.Q1742*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1742					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAGAATTTCAGCCATTTAC	0.423																																						uc003kgc.2		NA																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(5224-5226)CAG>TAG		cardiomyopathy associated 5							50.0	49.0	49.0					5																	79029812		1834	4085	5919	SO:0001587	stop_gained	202333					perinuclear region of cytoplasm		g.chr5:79029812C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5224C>T	5.37:g.79029812C>T	ENSP00000394770:p.Gln1742*						p.Q1742*	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	5296	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1742					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	c.5224C>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	42	9.162738	0.99085	.	.	ENSG00000164309	ENST00000446378	.	.	.	3.64	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	10.8606	0.46825	0.0:1.0:0.0:0.0	.	.	.	.	X	1742	.	ENSP00000394770:Q1742X	Q	+	1	0	CMYA5	79065568	0.058000	0.20735	0.298000	0.25002	0.417000	0.31264	1.122000	0.31295	1.589000	0.49982	0.563000	0.77884	CAG		0.423	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		11	45	0	0	0	0	11	45				
GPR98	84059	broad.mit.edu	37	5	90074289	90074289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:90074289C>T	ENST00000405460.2	+	63	12808	c.12712C>T	c.(12712-12714)Cag>Tag	p.Q4238*	GPR98_ENST00000425867.2_5'Flank	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4238	Calx-beta 28. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTATGAGTTTCAGCTCACTGC	0.468																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(12712-12714)CAG>TAG		G protein-coupled receptor 98 precursor							40.0	39.0	40.0					5																	90074289		1974	4160	6134	SO:0001587	stop_gained	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90074289C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12712C>T	5.37:g.90074289C>T	ENSP00000384582:p.Gln4238*					GPR98_uc003kjt.2_Nonsense_Mutation_p.Q1944*|GPR98_uc003kjw.2_5'Flank	p.Q4238*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	63	12808	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4238			Extracellular (Potential).|Calx-beta 28.		O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	ENST00000405460.2	37	c.12712C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	53	20.921899	0.99935	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	.	.	.	5.62	4.75	0.60458	.	0.314473	0.36893	N	0.002356	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	16.6534	0.85222	0.0:0.8701:0.1299:0.0	.	.	.	.	X	4238	.	ENSP00000296619:Q4238X	Q	+	1	0	GPR98	90110045	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	1.845000	0.39279	1.344000	0.45657	-0.165000	0.13383	CAG		0.468	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		7	20	0	0	0	0	7	20				
ARRDC3	57561	broad.mit.edu	37	5	90670857	90670857	+	Missense_Mutation	SNP	C	C	T	rs371971226		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:90670857C>T	ENST00000265138.3	-	5	1018	c.752G>A	c.(751-753)cGt>cAt	p.R251H	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	251					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GGATTCCCCACGCAAGTTAGC	0.468																																						uc003kjz.2		NA																	0				ovary(1)|breast(1)	2						c.(751-753)CGT>CAT		arrestin domain containing 3		C	HIS/ARG	0,4406		0,0,2203	130.0	111.0	118.0		752	6.0	1.0	5		118	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARRDC3	NM_020801.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	251/415	90670857	1,13005	2203	4300	6503	SO:0001583	missense	57561				signal transduction	cytoplasm	protein binding	g.chr5:90670857C>T	AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.752G>A	5.37:g.90670857C>T	ENSP00000265138:p.Arg251His						p.R251H	NM_020801	NP_065852	Q96B67	ARRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)	5	992	-		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	251					A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	37	c.752G>A	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	C	35	5.550814	0.96501	0.0	1.16E-4	ENSG00000113369	ENST00000265138	T	0.07021	3.23	5.98	5.98	0.97165	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.27900	0.0687	L	0.56340	1.77	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00024	-1.2326	10	0.51188	T	0.08	-42.548	20.452	0.99131	0.0:1.0:0.0:0.0	.	251	Q96B67	ARRD3_HUMAN	H	251	ENSP00000265138:R251H	ENSP00000265138:R251H	R	-	2	0	ARRDC3	90706613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	2.838000	0.97847	0.591000	0.81541	CGT		0.468	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801		13	66	0	0	0	0	13	66				
YTHDC2	64848	broad.mit.edu	37	5	112851047	112851047	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:112851047C>T	ENST00000161863.4	+	2	479	c.266C>T	c.(265-267)tCt>tTt	p.S89F	YTHDC2_ENST00000515883.1_Missense_Mutation_p.S89F	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	89	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GGTTTGGTCTCTAAAAGTAAA	0.333																																						uc003kqn.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(265-267)TCT>TTT		YTH domain containing 2							96.0	98.0	98.0					5																	112851047		2202	4299	6501	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112851047C>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.266C>T	5.37:g.112851047C>T	ENSP00000161863:p.Ser89Phe					YTHDC2_uc010jce.1_Missense_Mutation_p.S89F|YTHDC2_uc010jcf.1_5'UTR	p.S89F	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	2	449	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	89			R3H.		B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.266C>T	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476177	0.84640	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000514720	T;T	0.09817	3.9;2.94	5.34	5.34	0.76211	Single-stranded nucleic acid binding R3H (2);	0.215371	0.32719	N	0.005736	T	0.40171	0.1106	M	0.86651	2.83	0.53005	D	0.999962	D	0.69078	0.997	D	0.73708	0.981	T	0.34477	-0.9827	10	0.45353	T	0.12	.	19.0387	0.92989	0.0:1.0:0.0:0.0	.	89	Q9H6S0	YTDC2_HUMAN	F	89;89;29	ENSP00000161863:S89F;ENSP00000423101:S89F	ENSP00000161863:S89F	S	+	2	0	YTHDC2	112878946	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.792000	0.75125	2.500000	0.84329	0.655000	0.94253	TCT		0.333	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		15	63	0	0	0	0	15	63				
YTHDC2	64848	broad.mit.edu	37	5	112871369	112871369	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:112871369G>A	ENST00000161863.4	+	7	1189	c.976G>A	c.(976-978)Gat>Aat	p.D326N	YTHDC2_ENST00000515883.1_Missense_Mutation_p.D326N	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	326	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TCGATTTAGTGATTTTTTACT	0.303																																						uc003kqn.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(976-978)GAT>AAT		YTH domain containing 2							75.0	81.0	79.0					5																	112871369		2202	4298	6500	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112871369G>A	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.976G>A	5.37:g.112871369G>A	ENSP00000161863:p.Asp326Asn					YTHDC2_uc010jce.1_Missense_Mutation_p.D326N|YTHDC2_uc010jcf.1_Missense_Mutation_p.D26N	p.D326N	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	7	1159	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	326			Helicase ATP-binding.		B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.976G>A	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212524	0.95069	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.32753	1.44;1.44	5.61	5.61	0.85477	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73830	0.3637	H	0.98577	4.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84672	0.0712	10	0.87932	D	0	.	19.6493	0.95794	0.0:0.0:1.0:0.0	.	326	Q9H6S0	YTDC2_HUMAN	N	326;326;236	ENSP00000161863:D326N;ENSP00000423101:D326N	ENSP00000161863:D326N	D	+	1	0	YTHDC2	112899268	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.356000	0.97091	2.638000	0.89438	0.650000	0.86243	GAT		0.303	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		13	48	0	0	0	0	13	48				
YTHDC2	64848	broad.mit.edu	37	5	112889016	112889016	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:112889016C>T	ENST00000161863.4	+	13	2040	c.1827C>T	c.(1825-1827)atC>atT	p.I609I	YTHDC2_ENST00000515883.1_Silent_p.I609I	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	609					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGGATTTGATCATGCATCTTC	0.343																																						uc003kqn.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1825-1827)ATC>ATT		YTH domain containing 2							75.0	71.0	72.0					5																	112889016		2202	4299	6501	SO:0001819	synonymous_variant	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112889016C>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1827C>T	5.37:g.112889016C>T						YTHDC2_uc010jce.1_Silent_p.I609I|YTHDC2_uc010jcf.1_Silent_p.I309I	p.I609I	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	13	2010	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	609					B2RP66	Silent	SNP	ENST00000161863.4	37	c.1827C>T	CCDS4113.1																																																																																				0.343	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		9	21	0	0	0	0	9	21				
ZNF474	133923	broad.mit.edu	37	5	121488078	121488078	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:121488078G>C	ENST00000296600.4	+	2	776	c.393G>C	c.(391-393)ttG>ttC	p.L131F	ZNF474_ENST00000514925.1_Intron|CTC-441N14.1_ENST00000505209.1_RNA|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	131							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CCAAGCATTTGAGGAGGCCAG	0.517																																						uc003ksv.2		NA																	0					0						c.(391-393)TTG>TTC		zinc finger protein 474							80.0	73.0	75.0					5																	121488078		2203	4300	6503	SO:0001583	missense	133923					intracellular	zinc ion binding	g.chr5:121488078G>C	AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.393G>C	5.37:g.121488078G>C	ENSP00000296600:p.Leu131Phe						p.L131F	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)	2	769	+		all_cancers(142;0.229)|Prostate(80;0.0387)	131					A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	c.393G>C	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802131	0.31869	.	.	ENSG00000164185	ENST00000296600	T	0.50001	0.76	5.28	1.19	0.21007	.	0.111783	0.38605	N	0.001623	T	0.39064	0.1064	M	0.71036	2.16	0.30638	N	0.756761	P	0.41748	0.761	B	0.41332	0.354	T	0.30031	-0.9992	10	0.16896	T	0.51	-12.6936	3.8459	0.08934	0.1605:0.4646:0.2624:0.1125	.	131	Q6S9Z5	ZN474_HUMAN	F	131	ENSP00000296600:L131F	ENSP00000296600:L131F	L	+	3	2	ZNF474	121515977	0.994000	0.37717	1.000000	0.80357	0.710000	0.40934	0.161000	0.16481	0.696000	0.31696	-0.136000	0.14681	TTG		0.517	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317		31	78	0	0	0	0	31	78				
ZNF608	57507	broad.mit.edu	37	5	123984351	123984351	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:123984351G>A	ENST00000306315.5	-	4	2161	c.1726C>T	c.(1726-1728)Cat>Tat	p.H576Y	ZNF608_ENST00000504926.1_Missense_Mutation_p.H149Y	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	576							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AAGTGTGCATGAGCCTGGTGG	0.493																																						uc003ktq.1		NA																	0				skin(3)|ovary(2)|lung(1)	6						c.(1726-1728)CAT>TAT		zinc finger protein 608							264.0	227.0	240.0					5																	123984351		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123984351G>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1726C>T	5.37:g.123984351G>A	ENSP00000307746:p.His576Tyr					ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.H576Y|ZNF608_uc003ktt.1_Missense_Mutation_p.H576Y	p.H576Y	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	1849	-		all_cancers(142;0.186)|Prostate(80;0.081)	576			C2H2-type.		A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.1726C>T	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	37	6.450913	0.97577	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.65549	-0.16;0.03	5.6	5.6	0.85130	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.78000	0.4215	M	0.75615	2.305	0.58432	D	0.999994	D	0.61697	0.99	P	0.60236	0.871	T	0.79478	-0.1787	10	0.62326	D	0.03	-18.4549	19.631	0.95701	0.0:0.0:1.0:0.0	.	576	Q9ULD9	ZN608_HUMAN	Y	149;576;576;576	ENSP00000427657:H149Y;ENSP00000307746:H576Y	ENSP00000307746:H576Y	H	-	1	0	ZNF608	124012250	1.000000	0.71417	0.786000	0.31890	0.992000	0.81027	9.847000	0.99503	2.630000	0.89119	0.544000	0.68410	CAT		0.493	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		28	89	0	0	0	0	28	89				
FBN2	2201	broad.mit.edu	37	5	127599217	127599217	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:127599217C>G	ENST00000508053.1	-	69	9066	c.8092G>C	c.(8092-8094)Gag>Cag	p.E2698Q	FBN2_ENST00000262464.4_Missense_Mutation_p.E2698Q			P35556	FBN2_HUMAN	fibrillin 2	2698	EGF-like 47; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACGAGCACTCATTCACGTCG	0.602																																						uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(8092-8094)GAG>CAG		fibrillin 2 precursor							117.0	110.0	112.0					5																	127599217		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127599217C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.8092G>C	5.37:g.127599217C>G	ENSP00000424571:p.Glu2698Gln						p.E2698Q	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	63	8531	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2698			EGF-like 47; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.8092G>C	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589628	0.86851	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.98862	-5.19;-5.19	5.24	5.24	0.73138	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000014	D	0.99293	0.9753	M	0.90814	3.15	0.54753	D	0.999989	D	0.71674	0.998	D	0.76575	0.988	D	0.99139	1.0855	10	0.62326	D	0.03	.	19.0205	0.92912	0.0:1.0:0.0:0.0	.	2698	P35556	FBN2_HUMAN	Q	2698	ENSP00000262464:E2698Q;ENSP00000424571:E2698Q	ENSP00000262464:E2698Q	E	-	1	0	FBN2	127627116	1.000000	0.71417	0.983000	0.44433	0.479000	0.33129	7.609000	0.82925	2.706000	0.92434	0.655000	0.94253	GAG		0.602	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		43	127	0	0	0	0	43	127				
SLC22A4	6583	broad.mit.edu	37	5	131671648	131671648	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:131671648G>T	ENST00000200652.3	+	8	1573	c.1399G>T	c.(1399-1401)Gcc>Tcc	p.A467S	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	467					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	CACATCCACGGCCTCCAGAGT	0.483																																						uc003kwq.2		NA																	0					0						c.(1399-1401)GCC>TCC		solute carrier family 22 member 4	L-Carnitine(DB00583)						132.0	129.0	130.0					5																	131671648		2203	4300	6503	SO:0001583	missense	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131671648G>T	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1399G>T	5.37:g.131671648G>T	ENSP00000200652:p.Ala467Ser					uc003kwr.3_Intron	p.A467S	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1564	+		all_cancers(142;0.0752)|Breast(839;0.198)	467			Helical; Name=11; (Potential).		O14546	Missense_Mutation	SNP	ENST00000200652.3	37	c.1399G>T	CCDS4153.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470068	0.43839	.	.	ENSG00000197208	ENST00000200652	T	0.59772	0.24	5.57	4.62	0.57501	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.156502	0.56097	D	0.000029	T	0.48978	0.1530	L	0.31065	0.9	0.39271	D	0.964385	B	0.23735	0.09	B	0.30251	0.113	T	0.48115	-0.9063	10	0.34782	T	0.22	.	16.3476	0.83150	0.0:0.0:0.8018:0.1982	.	467	Q9H015	S22A4_HUMAN	S	467	ENSP00000200652:A467S	ENSP00000200652:A467S	A	+	1	0	SLC22A4	131699547	0.939000	0.31865	1.000000	0.80357	0.991000	0.79684	1.654000	0.37334	2.633000	0.89246	0.637000	0.83480	GCC		0.483	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		15	134	1	0	2e-07	2.12e-07	15	134				
IRF1	3659	broad.mit.edu	37	5	131825145	131825145	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:131825145C>T	ENST00000245414.4	-	2	284	c.26G>A	c.(25-27)aGa>aAa	p.R9K	IRF1_ENST00000463784.1_Intron|IRF1_ENST00000405885.2_Missense_Mutation_p.R9K	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	9					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|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)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TAGCCAGGGTCTCATGCGCAT	0.493																																						uc003kxa.2		NA																	0					0						c.(25-27)AGA>AAA		interferon regulatory factor 1							96.0	95.0	95.0					5																	131825145		2203	4300	6503	SO:0001583	missense	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131825145C>T		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.26G>A	5.37:g.131825145C>T	ENSP00000245414:p.Arg9Lys					IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.R9K|IRF1_uc010jdt.1_Missense_Mutation_p.R9K	p.R9K	NM_002198	NP_002189	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	2	260	-		all_cancers(142;0.026)|Breast(839;0.198)	9			IRF tryptophan pentad repeat.		Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	c.26G>A	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530819	0.85706	.	.	ENSG00000125347	ENST00000245414;ENST00000405885;ENST00000437654;ENST00000458069	D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52	5.59	5.59	0.84812	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.038792	0.85682	D	0.000000	D	0.98330	0.9446	L	0.53780	1.695	0.80722	D	1	D;P	0.59767	0.986;0.673	D;P	0.77004	0.989;0.561	D	0.99349	1.0914	10	0.72032	D	0.01	-18.8828	19.96	0.97242	0.0:1.0:0.0:0.0	.	9;9	Q5FBX3;P10914	.;IRF1_HUMAN	K	9	ENSP00000245414:R9K;ENSP00000384406:R9K;ENSP00000405655:R9K;ENSP00000396318:R9K	ENSP00000245414:R9K	R	-	2	0	IRF1	131853044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.954000	0.70298	2.793000	0.96121	0.561000	0.74099	AGA		0.493	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		18	54	0	0	0	0	18	54				
SPOCK1	6695	broad.mit.edu	37	5	136315065	136315065	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:136315065C>T	ENST00000394945.1	-	10	1254	c.1085G>A	c.(1084-1086)gGg>gAg	p.G362E	SPOCK1_ENST00000282223.7_Missense_Mutation_p.G362E|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	362	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAACTCATTCCCATATTTGTC	0.587																																						uc003lbo.2		NA																	0				ovary(1)	1						c.(1084-1086)GGG>GAG		sparc/osteonectin, cwcv and kazal-like domains							159.0	144.0	149.0					5																	136315065		2203	4300	6503	SO:0001583	missense	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136315065C>T	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.1085G>A	5.37:g.136315065C>T	ENSP00000378401:p.Gly362Glu					SPOCK1_uc003lbp.2_Missense_Mutation_p.G362E	p.G362E	NM_004598	NP_004589	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		9	1276	-			362			Thyroglobulin type-1.		B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	37	c.1085G>A	CCDS4191.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024496	0.93518	.	.	ENSG00000152377	ENST00000394945;ENST00000282223	D;D	0.93307	-3.2;-3.2	5.1	5.1	0.69264	Thyroglobulin type-1 (6);	0.000000	0.85682	D	0.000000	D	0.98124	0.9381	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99808	1.1039	10	0.87932	D	0	.	17.5122	0.87763	0.0:1.0:0.0:0.0	.	362	Q08629	TICN1_HUMAN	E	362	ENSP00000378401:G362E;ENSP00000282223:G362E	ENSP00000282223:G362E	G	-	2	0	SPOCK1	136342964	1.000000	0.71417	0.899000	0.35326	0.972000	0.66771	7.814000	0.86154	2.358000	0.79984	0.650000	0.86243	GGG		0.587	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		4	104	0	0	0	0	4	104				
KLHL3	26249	broad.mit.edu	37	5	137045500	137045500	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:137045500C>T	ENST00000309755.4	-	3	623	c.180G>A	c.(178-180)gaG>gaA	p.E60E	KLHL3_ENST00000394937.3_Silent_p.E60E|KLHL3_ENST00000508657.1_Silent_p.E28E	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	60	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GGGCTTCTATCTCGACATCTT	0.537																																						uc010jek.2		NA																	0					0						c.(178-180)GAG>GAA		kelch-like 3							208.0	161.0	177.0					5																	137045500		2203	4300	6503	SO:0001819	synonymous_variant	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:137045500C>T	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.180G>A	5.37:g.137045500C>T						MYOT_uc011cye.1_Intron|KLHL3_uc010jem.1_Silent_p.E20E	p.E60E	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	3	624	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	60			BTB.		B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Silent	SNP	ENST00000309755.4	37	c.180G>A	CCDS4192.1																																																																																				0.537	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			26	100	0	0	0	0	26	100				
SLC4A9	83697	broad.mit.edu	37	5	139745591	139745591	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:139745591G>A	ENST00000230993.6	+	13	1990	c.1955G>A	c.(1954-1956)cGc>cAc	p.R652H	SLC4A9_ENST00000506757.2_Missense_Mutation_p.R628H|SLC4A9_ENST00000432095.2_Missense_Mutation_p.R614H|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000507527.1_Missense_Mutation_p.R652H	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	652	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACCAGCCGCTTCTTCCCC	0.493																																						uc003lfm.2		NA																	0				large_intestine(1)	1						c.(1954-1956)CGC>CAC		solute carrier family 4, sodium bicarbonate							218.0	220.0	220.0					5																	139745591		1931	4138	6069	SO:0001583	missense	83697					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr5:139745591G>A	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.1955G>A	5.37:g.139745591G>A	ENSP00000230993:p.Arg652His					SLC4A9_uc003lfj.2_Missense_Mutation_p.R628H|SLC4A9_uc011czg.1_Intron|SLC4A9_uc003lfl.2_Missense_Mutation_p.R628H|SLC4A9_uc003lfk.2_Missense_Mutation_p.R614H	p.R652H	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1990	+			652			Membrane (anion exchange).		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	ENST00000230993.6	37	c.1955G>A	CCDS58973.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094564	0.36952	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000507527	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	4.4	1.68	0.24146	Bicarbonate transporter, C-terminal (1);	0.277119	0.31134	N	0.008198	T	0.72630	0.3484	L	0.48218	1.51	0.40279	D	0.978372	B;B;B	0.18310	0.027;0.021;0.021	B;B;B	0.16722	0.016;0.009;0.009	T	0.68629	-0.5358	10	0.87932	D	0	.	10.0514	0.42219	0.2243:0.0:0.7757:0.0	.	652;614;628	Q96Q91;Q96Q91-2;Q96Q91-3	B3A4_HUMAN;.;.	H	652;628;614;652	ENSP00000230993:R652H;ENSP00000424424:R628H;ENSP00000410056:R614H;ENSP00000427661:R652H	ENSP00000230993:R652H	R	+	2	0	SLC4A9	139725775	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.787000	0.26858	0.382000	0.24878	-0.291000	0.09656	CGC		0.493	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1	NM_031467		73	198	0	0	0	0	73	198				
PCDHB2	56133	broad.mit.edu	37	5	140475302	140475302	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:140475302G>C	ENST00000194155.4	+	1	1076	c.928G>C	c.(928-930)Gat>Cat	p.D310H		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	310	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGAAACTGGATTTCGAATC	0.408																																						uc003lil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(928-930)GAT>CAT		protocadherin beta 2 precursor							88.0	91.0	90.0					5																	140475302		2203	4300	6503	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475302G>C	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.928G>C	5.37:g.140475302G>C	ENSP00000194155:p.Asp310His					PCDHB2_uc003lim.1_5'UTR	p.D310H	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1066	+			310			Extracellular (Potential).|Cadherin 3.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.928G>C	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371823	0.42003	.	.	ENSG00000112852	ENST00000194155	T	0.65364	-0.15	5.42	5.42	0.78866	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.87136	0.6102	H	0.99299	4.505	0.50039	D	0.999847	D	0.89917	1.0	D	0.77004	0.989	D	0.91222	0.5007	9	0.87932	D	0	.	12.5611	0.56281	0.0773:0.0:0.9227:0.0	.	310	Q9Y5E7	PCDB2_HUMAN	H	310	ENSP00000194155:D310H	ENSP00000194155:D310H	D	+	1	0	PCDHB2	140455486	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	5.427000	0.66483	2.695000	0.91970	0.655000	0.94253	GAT		0.408	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		16	49	0	0	0	0	16	49				
PCDHB6	56130	broad.mit.edu	37	5	140530308	140530308	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:140530308A>T	ENST00000231136.1	+	1	470	c.470A>T	c.(469-471)cAc>cTc	p.H157L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.H21L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	157	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAATGGCACACGATTTAGAC	0.483																																						uc003lir.2		NA																	0				skin(1)	1						c.(469-471)CAC>CTC		protocadherin beta 6 precursor							140.0	150.0	147.0					5																	140530308		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530308A>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.470A>T	5.37:g.140530308A>T	ENSP00000231136:p.His157Leu					PCDHB6_uc011dah.1_Missense_Mutation_p.H21L	p.H157L	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	470	+			157			Cadherin 2.|Extracellular (Potential).		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.470A>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	A	6.705	0.498661	0.12762	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.51325	0.71;0.71	4.85	4.85	0.62838	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.31544	0.0800	N	0.11341	0.13	0.09310	N	1	B	0.16603	0.018	B	0.25987	0.065	T	0.21999	-1.0229	9	0.45353	T	0.12	.	10.8116	0.46551	0.9225:0.0:0.0775:0.0	.	157	Q9Y5E3	PCDB6_HUMAN	L	21;157	ENSP00000438466:H21L;ENSP00000231136:H157L	ENSP00000231136:H157L	H	+	2	0	PCDHB6	140510492	0.000000	0.05858	0.534000	0.28014	0.139000	0.21198	0.440000	0.21592	1.938000	0.56188	0.459000	0.35465	CAC		0.483	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		43	156	0	0	0	0	43	156				
PCDHB15	56121	broad.mit.edu	37	5	140625408	140625408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:140625408G>A	ENST00000231173.3	+	1	262	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	88	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATATTAAATGAGAAGCTGGA	0.512																																						uc003lje.2		NA																	0				ovary(2)|breast(2)|skin(1)	5						c.(262-264)GAG>AAG		protocadherin beta 15 precursor							52.0	59.0	57.0					5																	140625408		2203	4300	6503	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140625408G>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.262G>A	5.37:g.140625408G>A	ENSP00000231173:p.Glu88Lys						p.E88K	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	262	+			88			Extracellular (Potential).|Cadherin 1.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.262G>A	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758083	0.69648	.	.	ENSG00000113248	ENST00000231173	T	0.32753	1.44	4.92	4.05	0.47172	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.38746	0.1052	M	0.69823	2.125	0.34988	D	0.754766	B	0.19331	0.035	B	0.32090	0.14	T	0.52457	-0.8573	9	0.66056	D	0.02	.	12.9635	0.58472	0.0802:0.0:0.9198:0.0	.	88	Q9Y5E8	PCDBF_HUMAN	K	88	ENSP00000231173:E88K	ENSP00000231173:E88K	E	+	1	0	PCDHB15	140605592	0.982000	0.34865	0.984000	0.44739	0.757000	0.42996	4.074000	0.57577	1.203000	0.43233	0.491000	0.48974	GAG		0.512	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		5	68	0	0	0	0	5	68				
GNPDA1	10007	broad.mit.edu	37	5	141385711	141385711	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:141385711C>G	ENST00000508177.1	-	3	1165	c.407G>C	c.(406-408)gGa>gCa	p.G136A	GNPDA1_ENST00000311337.6_Missense_Mutation_p.G136A|GNPDA1_ENST00000458112.2_Missense_Mutation_p.G102A|GNPDA1_ENST00000503794.1_Missense_Mutation_p.G136A|GNPDA1_ENST00000513454.1_Missense_Mutation_p.G136A|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000500692.2_Missense_Mutation_p.G136A			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	136					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTCACCTCCAACAAATAG	0.532																																						uc003lmf.3		NA																	0					0						c.(406-408)GGA>GCA		glucosamine-6-phosphate deaminase 1							207.0	170.0	183.0					5																	141385711		2203	4300	6503	SO:0001583	missense	10007				generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr5:141385711C>G	AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate deaminase"", ""oscillin"""	601798	"""glucosamine-6-phosphate isomerase"""	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.407G>C	5.37:g.141385711C>G	ENSP00000423674:p.Gly136Ala					GNPDA1_uc003lmg.3_Missense_Mutation_p.G136A|GNPDA1_uc010jgh.2_Missense_Mutation_p.G136A|GNPDA1_uc003lmh.3_Missense_Mutation_p.G102A	p.G136A	NM_005471	NP_005462	P46926	GNPI1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	1166	-		all_hematologic(541;0.118)	136					B7Z3X4|D3DQE7	Missense_Mutation	SNP	ENST00000508177.1	37	c.407G>C	CCDS4272.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746802	0.89663	.	.	ENSG00000113552	ENST00000513454;ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000504139;ENST00000505689;ENST00000510194;ENST00000503229	T;T;T;T;T;T;T;T;T;T	0.42131	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;0.98	5.6	5.6	0.85130	Glucosamine-6-phosphate isomerase, conserved site (1);Glucosamine/galactosamine-6-phosphate isomerase (1);	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	L	0.51914	1.62	0.80722	D	1	B;P	0.48764	0.07;0.915	B;P	0.51385	0.173;0.668	T	0.50541	-0.8816	10	0.52906	T	0.07	-19.2929	19.5966	0.95541	0.0:1.0:0.0:0.0	.	102;136	E7EVU7;P46926	.;GNPI1_HUMAN	A	136;136;102;136;136;136;136;157;136;136	ENSP00000423494:G136A;ENSP00000311876:G136A;ENSP00000387718:G102A;ENSP00000424275:G136A;ENSP00000423674:G136A;ENSP00000423485:G136A;ENSP00000424625:G136A;ENSP00000421524:G157A;ENSP00000424537:G136A;ENSP00000422173:G136A	ENSP00000311876:G136A	G	-	2	0	GNPDA1	141365895	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.638000	0.89438	0.655000	0.94253	GGA		0.532	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	NM_005471		25	76	0	0	0	0	25	76				
RBM27	54439	broad.mit.edu	37	5	145651095	145651095	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:145651095C>G	ENST00000265271.5	+	19	3012	c.2846C>G	c.(2845-2847)tCt>tGt	p.S949C	RBM27_ENST00000506502.1_Missense_Mutation_p.S894C	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	949					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCATGTCCTCTCAAGGTCGA	0.478																																						uc003lnz.3		NA																	0				central_nervous_system(2)|pancreas(1)	3						c.(2845-2847)TCT>TGT		RNA binding motif protein 27							135.0	127.0	130.0					5																	145651095		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145651095C>G	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2846C>G	5.37:g.145651095C>G	ENSP00000265271:p.Ser949Cys						p.S949C	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	3012	+			949					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.2846C>G	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737240	0.69304	.	.	ENSG00000091009	ENST00000265271	T	0.48836	0.8	5.05	5.05	0.67936	.	0.276497	0.31156	N	0.008154	T	0.39009	0.1062	L	0.32530	0.975	0.30364	N	0.783554	P	0.39576	0.679	B	0.37780	0.258	T	0.50808	-0.8784	10	0.62326	D	0.03	-8.9026	14.4068	0.67088	0.0:0.8525:0.1474:0.0	.	949	Q9P2N5	RBM27_HUMAN	C	949	ENSP00000265271:S949C	ENSP00000265271:S949C	S	+	2	0	RBM27	145631288	0.245000	0.23899	1.000000	0.80357	0.995000	0.86356	0.742000	0.26216	2.521000	0.84997	0.655000	0.94253	TCT		0.478	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		8	30	0	0	0	0	8	30				
SLC6A7	6534	broad.mit.edu	37	5	149576346	149576346	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:149576346C>G	ENST00000230671.2	+	3	656	c.285C>G	c.(283-285)ctC>ctG	p.L95L	SLC6A7_ENST00000524041.1_Silent_p.L95L	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	95					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TCCTGGAGCTCTCCCTGGGCC	0.642																																						uc003lrr.2		NA																	0					0						c.(283-285)CTC>CTG		solute carrier family 6, member 7	L-Proline(DB00172)						104.0	119.0	114.0					5																	149576346		2203	4300	6503	SO:0001819	synonymous_variant	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149576346C>G	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.285C>G	5.37:g.149576346C>G							p.L95L	NM_014228	NP_055043	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	656	+		all_hematologic(541;0.224)	95					Q0VG81|Q52LU6	Silent	SNP	ENST00000230671.2	37	c.285C>G	CCDS4305.1																																																																																				0.642	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		39	115	0	0	0	0	39	115				
GALNT10	55568	broad.mit.edu	37	5	153760021	153760021	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:153760021G>A	ENST00000297107.6	+	6	905	c.768G>A	c.(766-768)cgG>cgA	p.R256R	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Silent_p.R256R|GALNT10_ENST00000377661.2_Silent_p.R194R	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	256					cellular protein metabolic process (GO:0044267)|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)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCATTGCTCGGAACCGCAAGA	0.512																																						uc003lvh.2		NA																	0				skin(2)	2						c.(766-768)CGG>CGA		GalNAc transferase 10 isoform a							197.0	168.0	178.0					5																	153760021		2203	4300	6503	SO:0001819	synonymous_variant	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153760021G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.768G>A	5.37:g.153760021G>A						GALNT10_uc003lvg.1_Silent_p.R256R|GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Silent_p.R97R	p.R256R	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		6	900	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	256			Lumenal (Potential).		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Silent	SNP	ENST00000297107.6	37	c.768G>A	CCDS4325.1																																																																																				0.512	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		43	126	0	0	0	0	43	126				
RNF145	153830	broad.mit.edu	37	5	158585719	158585719	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:158585719G>A	ENST00000424310.2	-	11	2310	c.1951C>T	c.(1951-1953)Cac>Tac	p.H651Y	RNF145_ENST00000520638.1_Missense_Mutation_p.H665Y|RNF145_ENST00000274542.2_Missense_Mutation_p.H679Y|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000519865.1_Missense_Mutation_p.H651Y|RNF145_ENST00000521606.2_Missense_Mutation_p.H668Y|RNF145_ENST00000518802.1_Missense_Mutation_p.H681Y	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	651						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCGCACTGTGAGGATATTCT	0.473																																						uc003lxp.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(1951-1953)CAC>TAC		ring finger protein 145							146.0	154.0	151.0					5																	158585719		2203	4300	6503	SO:0001583	missense	153830					integral to membrane	zinc ion binding	g.chr5:158585719G>A	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.1951C>T	5.37:g.158585719G>A	ENSP00000409064:p.His651Tyr					RNF145_uc011ddy.1_Missense_Mutation_p.H665Y|RNF145_uc003lxo.1_Missense_Mutation_p.H679Y|RNF145_uc011ddz.1_Missense_Mutation_p.H668Y|RNF145_uc010jiq.1_Missense_Mutation_p.H681Y	p.H651Y	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	2264	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	651					B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	c.1951C>T	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.665689	0.00105	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.77877	-1.13;-1.1;-1.1;-1.11;-1.11;-1.13;-1.11	4.79	0.804	0.18697	.	2.322460	0.01539	N	0.019143	T	0.56455	0.1986	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.11235	0.002;0.002;0.002;0.002;0.004	B;B;B;B;B	0.19148	0.004;0.007;0.011;0.007;0.024	T	0.54063	-0.8349	10	0.02654	T	1	4.3803	6.6555	0.22984	0.1577:0.2951:0.5472:0.0	.	668;665;681;651;679	B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;RN145_HUMAN;.	Y	679;651;651;667;668;681;651;665	ENSP00000274542:H679Y;ENSP00000430397:H651Y;ENSP00000409064:H651Y;ENSP00000430753:H667Y;ENSP00000445115:H668Y;ENSP00000430955:H681Y;ENSP00000429071:H665Y	ENSP00000274542:H679Y	H	-	1	0	RNF145	158518297	0.000000	0.05858	0.000000	0.03702	0.404000	0.30871	0.319000	0.19522	0.091000	0.17302	0.655000	0.94253	CAC		0.473	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		34	159	0	0	0	0	34	159				
RARS	5917	broad.mit.edu	37	5	167922356	167922356	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:167922356G>C	ENST00000231572.3	+	6	670	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	206					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TATAGCTAAAGAGATGCATGT	0.428																																						uc003lzx.2		NA																	0				ovary(2)|skin(1)	3						c.(616-618)GAG>CAG		arginyl-tRNA synthetase							193.0	188.0	190.0					5																	167922356		2203	4300	6503	SO:0001583	missense	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167922356G>C	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.616G>C	5.37:g.167922356G>C	ENSP00000231572:p.Glu206Gln					RARS_uc011deo.1_5'UTR	p.E206Q	NM_002887	NP_002878	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	6	657	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	206			HIGH region.		B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	ENST00000231572.3	37	c.616G>C	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429173	0.83776	.	.	ENSG00000113643	ENST00000231572	T	0.66638	-0.22	5.03	5.03	0.67393	Aminoacyl-tRNA synthetase, class I, conserved site (1);Arginyl-tRNA synthetase, class Ia, core (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.75766	0.3894	L	0.53671	1.685	0.80722	D	1	P	0.52061	0.95	P	0.57283	0.817	T	0.76266	-0.3022	10	0.46703	T	0.11	-14.1219	18.4023	0.90520	0.0:0.0:1.0:0.0	.	206	P54136	SYRC_HUMAN	Q	206	ENSP00000231572:E206Q	ENSP00000231572:E206Q	E	+	1	0	RARS	167854934	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.414000	0.97362	2.339000	0.79563	0.655000	0.94253	GAG		0.428	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		3	161	0	0	0	0	3	161				
NSD1	64324	broad.mit.edu	37	5	176562391	176562391	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:176562391C>G	ENST00000439151.2	+	2	332	c.287C>G	c.(286-288)tCc>tGc	p.S96C	NSD1_ENST00000511258.1_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.S96C|NSD1_ENST00000354179.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	96					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGATCAGAATCCTTTCAAGAC	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(286-288)TCC>TGC		nuclear receptor binding SET domain protein 1							85.0	83.0	83.0					5																	176562391		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176562391C>G	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.287C>G	5.37:g.176562391C>G	ENSP00000395929:p.Ser96Cys	HNSCC(47;0.14)				NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Missense_Mutation_p.S96C|NSD1_uc011dfx.1_Intron|NSD1_uc003mfp.2_Missense_Mutation_p.S96C|NSD1_uc003mfq.2_Missense_Mutation_p.S96C	p.S96C	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	2	425	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	96					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.287C>G	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700896	0.30142	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.94862	-3.37;-3.54	5.23	5.23	0.72850	.	0.391647	0.22595	N	0.058038	D	0.86715	0.5999	N	0.08118	0	0.80722	D	1	B;B;B	0.31459	0.101;0.061;0.324	B;B;B	0.27170	0.046;0.021;0.077	D	0.86242	0.1644	10	0.87932	D	0	.	11.9533	0.52966	0.0:0.8257:0.1743:0.0	.	96;96;96	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	C	96	ENSP00000395929:S96C;ENSP00000354310:S96C	ENSP00000354310:S96C	S	+	2	0	NSD1	176494997	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	2.610000	0.46325	2.719000	0.93026	0.555000	0.69702	TCC		0.438	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		12	47	0	0	0	0	12	47				
ZFP2	80108	broad.mit.edu	37	5	178358777	178358777	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:178358777G>C	ENST00000361362.2	+	5	993	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	ZFP2_ENST00000523286.1_Missense_Mutation_p.E155Q|ZFP2_ENST00000520301.1_Missense_Mutation_p.E155Q|ZFP2_ENST00000503510.2_Missense_Mutation_p.E155Q	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	155					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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TCATACTGGAGAGAAACCCTA	0.413																																						uc003mjn.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(463-465)GAG>CAG		zinc finger protein 2 homolog							49.0	52.0	51.0					5																	178358777		2203	4300	6503	SO:0001583	missense	80108				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178358777G>C	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.463G>C	5.37:g.178358777G>C	ENSP00000354453:p.Glu155Gln					ZFP2_uc010jky.2_Missense_Mutation_p.E155Q|ZFP2_uc010jkx.1_Missense_Mutation_p.E155Q	p.E155Q	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)	5	972	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	155					A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	37	c.463G>C	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	g	17.28	3.349579	0.61183	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	4.71	2.89	0.33648	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32687	N	0.005761	T	0.36580	0.0972	L	0.37561	1.115	0.35484	D	0.798366	D	0.89917	1.0	D	0.91635	0.999	T	0.47548	-0.9109	10	0.87932	D	0	-9.7441	9.0947	0.36632	0.186:0.0:0.814:0.0	.	155	Q6ZN57	ZFP2_HUMAN	Q	155	ENSP00000354453:E155Q;ENSP00000430980:E155Q;ENSP00000430531:E155Q;ENSP00000438114:E155Q	ENSP00000354453:E155Q	E	+	1	0	ZFP2	178291383	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.324000	0.72896	1.194000	0.43101	0.591000	0.81541	GAG		0.413	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613		17	52	0	0	0	0	17	52				
ZNF354C	30832	broad.mit.edu	37	5	178507032	178507032	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:178507032C>T	ENST00000315475.6	+	5	1905	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	533					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)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GGAAACCTTTCATCTGCAGCT	0.383																																						uc003mju.2		NA																	0				ovary(1)	1						c.(1597-1599)TTC>TTT		zinc finger protein 354C							84.0	89.0	87.0					5																	178507032		2203	4300	6503	SO:0001819	synonymous_variant	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178507032C>T		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1599C>T	5.37:g.178507032C>T							p.F533F	NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	1714	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	533					Q6P4P9|Q8NFX1	Silent	SNP	ENST00000315475.6	37	c.1599C>T	CCDS4443.1																																																																																				0.383	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			19	84	0	0	0	0	19	84				
RIPK1	8737	broad.mit.edu	37	6	3081283	3081283	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:3081283G>C	ENST00000259808.4	+	4	690	c.392G>C	c.(391-393)gGa>gCa	p.G131A	RIPK1_ENST00000541791.1_Intron|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.G131A			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	131	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|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 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TACTTACATGGAAAAGGCGTG	0.368																																						uc010jni.2		NA																	0				large_intestine(3)|lung(1)|skin(1)	5						c.(391-393)GGA>GCA		receptor (TNFRSF)-interacting serine-threonine							137.0	120.0	126.0					6																	3081283		2203	4300	6503	SO:0001583	missense	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3081283G>C	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.392G>C	6.37:g.3081283G>C	ENSP00000259808:p.Gly131Ala					RIPK1_uc003muv.3_5'UTR|RIPK1_uc003muw.3_Missense_Mutation_p.G66A|RIPK1_uc011dhs.1_Intron|RIPK1_uc003mux.2_Missense_Mutation_p.G131A	p.G131A	NM_003804	NP_003795	Q13546	RIPK1_HUMAN			4	624	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	131			Protein kinase.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	ENST00000259808.4	37	c.392G>C	CCDS4482.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851859	0.32699	.	.	ENSG00000137275	ENST00000259808;ENST00000380409	T;T	0.61859	0.07;0.07	5.92	4.14	0.48551	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.425166	0.30043	N	0.010547	T	0.18551	0.0445	N	0.10874	0.06	0.23747	N	0.996955	P	0.43938	0.822	P	0.45913	0.497	T	0.10613	-1.0622	10	0.13853	T	0.58	-5.4995	6.7853	0.23670	0.3899:0.0:0.6101:0.0	.	131	Q13546	RIPK1_HUMAN	A	131	ENSP00000259808:G131A;ENSP00000369773:G131A	ENSP00000259808:G131A	G	+	2	0	RIPK1	3026282	0.999000	0.42202	0.985000	0.45067	0.997000	0.91878	4.132000	0.57977	0.837000	0.34925	0.655000	0.94253	GGA		0.368	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		13	42	0	0	0	0	13	42				
HIVEP1	3096	broad.mit.edu	37	6	12122774	12122774	+	Missense_Mutation	SNP	G	G	A	rs574039329		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:12122774G>A	ENST00000379388.2	+	4	3078	c.2746G>A	c.(2746-2748)Gga>Aga	p.G916R		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	916					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G916R(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCTTGGTACTGGACAGTCCCT	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		19296	0.0		0.0	False		,,,				2504	0.001					uc003nac.2		NA																	1	Substitution - Missense(1)	p.G916R(1)	ovary(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2746-2748)GGA>AGA		human immunodeficiency virus type I enhancer							54.0	56.0	55.0					6																	12122774		2049	4191	6240	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12122774G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2746G>A	6.37:g.12122774G>A	ENSP00000368698:p.Gly916Arg					HIVEP1_uc011diq.1_RNA	p.G916R	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	2925	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	916					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.2746G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	6.944	0.544002	0.13312	.	.	ENSG00000095951	ENST00000379388	T	0.25749	1.78	6.02	3.95	0.45737	.	0.314395	0.18109	N	0.151439	T	0.10551	0.0258	L	0.57536	1.79	0.24048	N	0.996057	B	0.13594	0.008	B	0.13407	0.009	T	0.13522	-1.0506	9	.	.	.	-14.0355	9.4475	0.38706	0.1426:0.0:0.7358:0.1216	.	916	P15822	ZEP1_HUMAN	R	916	ENSP00000368698:G916R	.	G	+	1	0	HIVEP1	12230760	0.209000	0.23505	0.630000	0.29268	0.383000	0.30230	1.616000	0.36933	1.569000	0.49696	0.655000	0.94253	GGA		0.517	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		12	47	0	0	0	0	12	47				
MYLIP	29116	broad.mit.edu	37	6	16141928	16141928	+	Silent	SNP	G	G	T	rs576724339		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:16141928G>T	ENST00000356840.3	+	3	549	c.351G>T	c.(349-351)gtG>gtT	p.V117V	MYLIP_ENST00000349606.4_5'UTR|MIR4639_ENST00000584938.1_RNA	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	117	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			AGCAGGCAGTGGAACTCAGTG	0.527																																						uc003nbq.2		NA																	0				pancreas(1)	1						c.(349-351)GTG>GTT		myosin regulatory light chain interacting							88.0	82.0	84.0					6																	16141928		2203	4300	6503	SO:0001819	synonymous_variant	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16141928G>T	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.351G>T	6.37:g.16141928G>T						MYLIP_uc003nbr.2_5'UTR	p.V117V	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		3	588	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	117			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Silent	SNP	ENST00000356840.3	37	c.351G>T	CCDS4536.1																																																																																				0.527	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		9	70	1	0	3.1e-07	3.29e-07	9	70				
PGBD1	84547	broad.mit.edu	37	6	28251866	28251866	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:28251866C>G	ENST00000405948.2	+	2	696	c.276C>G	c.(274-276)ttC>ttG	p.F92L	PGBD1_ENST00000259883.3_Missense_Mutation_p.F92L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	92	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.					membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGGAGCAGTTCCTGACCATCC	0.537																																						uc003nky.2		NA																	0				ovary(4)	4						c.(274-276)TTC>TTG		piggyBac transposable element derived 1							98.0	90.0	93.0					6																	28251866		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28251866C>G	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.276C>G	6.37:g.28251866C>G	ENSP00000385213:p.Phe92Leu					PGBD1_uc003nkz.2_Missense_Mutation_p.F92L	p.F92L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			2	646	+			92			SCAN box.		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.276C>G	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542601	0.85917	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.16743	2.32;2.32	4.32	4.32	0.51571	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.40839	0.1133	M	0.90145	3.09	0.33415	D	0.579154	D	0.69078	0.997	D	0.80764	0.994	T	0.49570	-0.8926	9	0.87932	D	0	-13.2112	14.7497	0.69516	0.0:1.0:0.0:0.0	.	92	Q96JS3	PGBD1_HUMAN	L	92	ENSP00000385213:F92L;ENSP00000259883:F92L	ENSP00000259883:F92L	F	+	3	2	PGBD1	28359845	1.000000	0.71417	0.995000	0.50966	0.863000	0.49368	4.186000	0.58337	2.689000	0.91719	0.655000	0.94253	TTC		0.537	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			26	74	0	0	0	0	26	74				
TRIM39	56658	broad.mit.edu	37	6	30297129	30297129	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:30297129C>T	ENST00000396547.1	+	2	195	c.35C>T	c.(34-36)tCt>tTt	p.S12F	TRIM39_ENST00000540416.1_Missense_Mutation_p.S12F|HCG18_ENST00000454269.1_RNA|HCG18_ENST00000413358.2_RNA|TRIM39_ENST00000396548.1_Missense_Mutation_p.S12F|HCG18_ENST00000602290.1_RNA|HCG18_ENST00000426882.1_RNA|TRIM39_ENST00000376659.5_Missense_Mutation_p.S12F|HCG18_ENST00000412685.2_RNA|HCG18_ENST00000438412.1_RNA|TRIM39_ENST00000396551.3_Missense_Mutation_p.S12F|TRIM39-RPP21_ENST00000513556.1_5'Flank|TRIM39_ENST00000376656.4_Missense_Mutation_p.S12F|HCG18_ENST00000454129.1_RNA|HCG18_ENST00000602550.1_RNA			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	12					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						GCTGGGGCCTCTGCAGCCTCT	0.473																																						uc010jrz.2		NA																	0				ovary(3)	3						c.(34-36)TCT>TTT		tripartite motif-containing 39 isoform 1							91.0	125.0	113.0					6																	30297129		1507	2707	4214	SO:0001583	missense	56658				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding	g.chr6:30297129C>T	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.35C>T	6.37:g.30297129C>T	ENSP00000379796:p.Ser12Phe					HCG18_uc003npw.2_5'Flank|HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39_uc003npz.2_Missense_Mutation_p.S12F|TRIM39_uc003nqb.2_Missense_Mutation_p.S12F|TRIM39_uc003nqc.2_Missense_Mutation_p.S12F|TRIM39_uc010jsa.1_Missense_Mutation_p.S12F	p.S12F	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN			3	347	+			12					Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	c.35C>T	CCDS34377.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628629	0.46944	.	.	ENSG00000204599	ENST00000458516;ENST00000440271;ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000428728;ENST00000396548;ENST00000428404;ENST00000376659;ENST00000428555;ENST00000396547	T;T;T;T;T;T;T;T;T;T;T	0.80653	-0.31;-1.27;0.06;0.03;0.09;-0.22;0.06;-1.4;0.06;1.4;0.03	4.87	1.91	0.25777	.	0.000000	0.40144	N	0.001163	T	0.47838	0.1467	L	0.27053	0.805	0.33354	D	0.571429	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31558	-0.9939	10	0.56958	D	0.05	.	4.8666	0.13611	0.1518:0.616:0.1472:0.085	.	12;12	Q9HCM9;Q9HCM9-2	TRI39_HUMAN;.	F	12	ENSP00000405928:S12F;ENSP00000394768:S12F;ENSP00000379800:S12F;ENSP00000365844:S12F;ENSP00000439400:S12F;ENSP00000406019:S12F;ENSP00000379797:S12F;ENSP00000405498:S12F;ENSP00000365847:S12F;ENSP00000397952:S12F;ENSP00000379796:S12F	ENSP00000365844:S12F	S	+	2	0	TRIM39	30405108	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.920000	0.40025	0.624000	0.30286	0.561000	0.74099	TCT		0.473	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		50	149	0	0	0	0	50	149				
PPP1R18	170954	broad.mit.edu	37	6	30647097	30647097	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:30647097C>G	ENST00000274853.3	-	2	3557	c.1681G>C	c.(1681-1683)Gag>Cag	p.E561Q	PPP1R18_ENST00000399199.3_Missense_Mutation_p.E561Q|PPP1R18_ENST00000488324.1_5'UTR	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	561						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CCCAGCTCCTCCAGTACCGAA	0.627																																						uc003nra.2		NA																	0					0						c.(1681-1683)GAG>CAG		phostensin							46.0	49.0	48.0					6																	30647097		1216	2528	3744	SO:0001583	missense	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30647097C>G	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.1681G>C	6.37:g.30647097C>G	ENSP00000274853:p.Glu561Gln					KIAA1949_uc003nrb.3_Missense_Mutation_p.E561Q	p.E561Q	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN			3	1912	-			561					A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Missense_Mutation	SNP	ENST00000274853.3	37	c.1681G>C	CCDS43444.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456176	0.84209	.	.	ENSG00000146112	ENST00000274853;ENST00000399199	T;T	0.26518	1.73;1.73	5.08	4.2	0.49525	.	0.272597	0.28510	N	0.015088	T	0.21761	0.0524	L	0.27053	0.805	0.29509	N	0.854336	D	0.67145	0.996	D	0.67382	0.951	T	0.07046	-1.0793	10	0.41790	T	0.15	-10.4587	14.4384	0.67298	0.0:0.8511:0.1489:0.0	.	561	Q6NYC8	PPR18_HUMAN	Q	561	ENSP00000274853:E561Q;ENSP00000382150:E561Q	ENSP00000274853:E561Q	E	-	1	0	KIAA1949	30755076	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.229000	0.42990	1.134000	0.42165	0.650000	0.86243	GAG		0.627	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		24	46	0	0	0	0	24	46				
FKBPL	63943	broad.mit.edu	37	6	32097143	32097143	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:32097143C>T	ENST00000375156.3	-	2	685	c.415G>A	c.(415-417)Gag>Aag	p.E139K	ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	139					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										GTCCAGCCCTCTGGCGGCCCT	0.562																																						uc003nzr.2		NA																	0					0						c.(415-417)GAG>AAG		WAF-1/CIP1 stabilizing protein 39							172.0	192.0	185.0					6																	32097143		2203	4300	6503	SO:0001583	missense	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32097143C>T	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.415G>A	6.37:g.32097143C>T	ENSP00000364298:p.Glu139Lys					ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank	p.E139K	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN			2	685	-			139					A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	c.415G>A	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751534	0.49257	.	.	ENSG00000204315	ENST00000375156	T	0.81247	-1.47	5.23	4.35	0.52113	.	0.407546	0.22055	N	0.065257	T	0.49321	0.1550	N	0.24115	0.695	0.32590	N	0.527294	B	0.25312	0.123	B	0.22880	0.042	T	0.43130	-0.9410	10	0.40728	T	0.16	-15.0424	7.0876	0.25266	0.0:0.735:0.1755:0.0895	.	139	Q9UIM3	FKBPL_HUMAN	K	139	ENSP00000364298:E139K	ENSP00000364298:E139K	E	-	1	0	FKBPL	32205121	0.446000	0.25665	0.999000	0.59377	0.985000	0.73830	1.152000	0.31663	1.410000	0.46936	0.462000	0.41574	GAG		0.562	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			85	228	0	0	0	0	85	228				
FKBPL	63943	broad.mit.edu	37	6	32097257	32097257	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:32097257C>A	ENST00000375156.3	-	2	571	c.301G>T	c.(301-303)Gat>Tat	p.D101Y	ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	101					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										AAGCTCCCATCGGGGCAGTAC	0.517																																						uc003nzr.2		NA																	0					0						c.(301-303)GAT>TAT		WAF-1/CIP1 stabilizing protein 39							82.0	86.0	85.0					6																	32097257		2203	4300	6503	SO:0001583	missense	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32097257C>A	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.301G>T	6.37:g.32097257C>A	ENSP00000364298:p.Asp101Tyr					ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank	p.D101Y	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN			2	571	-			101					A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	c.301G>T	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145145	0.57044	.	.	ENSG00000204315	ENST00000375156	D	0.89343	-2.5	5.23	4.36	0.52297	.	0.154863	0.43416	D	0.000575	D	0.86740	0.6005	L	0.27053	0.805	0.40759	D	0.982987	D	0.89917	1.0	D	0.70487	0.969	D	0.89270	0.3604	10	0.87932	D	0	-12.7001	11.4585	0.50195	0.0:0.9135:0.0:0.0865	.	101	Q9UIM3	FKBPL_HUMAN	Y	101	ENSP00000364298:D101Y	ENSP00000364298:D101Y	D	-	1	0	FKBPL	32205235	0.996000	0.38824	0.692000	0.30179	0.726000	0.41606	4.415000	0.59809	1.450000	0.47717	0.462000	0.41574	GAT		0.517	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			21	84	1	0	1.02e-10	1.09e-10	21	84				
PRRT1	80863	broad.mit.edu	37	6	32118683	32118683	+	Splice_Site	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:32118683C>T	ENST00000211413.5	-	2	144	c.20G>A	c.(19-21)gGa>gAa	p.G7E	PPT2_ENST00000395523.1_5'Flank|PRRT1_ENST00000375152.2_Intron|PRRT1_ENST00000375150.2_Intron|PRRT1_ENST00000467780.1_5'Flank|PPT2_ENST00000361568.2_5'Flank|PPT2_ENST00000445576.2_5'Flank|PPT2_ENST00000324816.6_5'Flank	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	7					response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GTCTGGGAGTCCTGGGGGAGG	0.607																																						uc003nzt.2		NA																	0				breast(1)	1						c.(19-21)GGA>GAA		NG5 protein							11.0	12.0	12.0					6																	32118683		1501	2697	4198	SO:0001630	splice_region_variant	80863				response to biotic stimulus	integral to membrane		g.chr6:32118683C>T	AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"""Proline-rich transmembrane proteins"""	13943	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 7"""		"""chromosome 6 open reading frame 31"""	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.20-1G>A	6.37:g.32118683C>T						PRRT1_uc003nzs.2_Missense_Mutation_p.G48E|PRRT1_uc003nzu.2_Intron|PPT2_uc003nzw.2_5'Flank|PPT2_uc003nzx.2_5'Flank|PPT2_uc011dpi.1_5'Flank|PPT2_uc003nzy.1_5'Flank	p.G7E	NM_030651	NP_085154	Q99946	PRRT1_HUMAN			2	136	-			7					A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Missense_Mutation	SNP	ENST00000211413.5	37	c.20G>A	CCDS4739.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.248191	0.39697	.	.	ENSG00000204314	ENST00000211413	D	0.96856	-4.15	3.09	2.2	0.27929	.	.	.	.	.	D	0.84320	0.5446	N	0.14661	0.345	0.80722	D	1	B	0.18968	0.032	B	0.13407	0.009	T	0.79881	-0.1616	9	0.72032	D	0.01	.	6.0733	0.19901	0.0:0.8513:0.0:0.1487	.	7	Q99946	PRRT1_HUMAN	E	7	ENSP00000211413:G7E	ENSP00000211413:G7E	G	-	2	0	PRRT1	32226661	1.000000	0.71417	0.890000	0.34922	0.734000	0.41952	3.642000	0.54367	0.624000	0.30286	0.591000	0.81541	GGA		0.607	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076255.2	NM_030651	Missense_Mutation	5	11	0	0	0	0	5	11				
ITPR3	3710	broad.mit.edu	37	6	33656530	33656530	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:33656530C>G	ENST00000374316.5	+	50	7726	c.6666C>G	c.(6664-6666)ttC>ttG	p.F2222L	ITPR3_ENST00000605930.1_Missense_Mutation_p.F2222L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2222					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TTGCCTTCTTCTACCCTTACA	0.612																																						uc011drk.1		NA																	0				ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(6664-6666)TTC>TTG		inositol 1,4,5-triphosphate receptor, type 3							145.0	115.0	125.0					6																	33656530		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33656530C>G	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6666C>G	6.37:g.33656530C>G	ENSP00000363435:p.Phe2222Leu					ITPR3_uc003oey.2_Missense_Mutation_p.F309L	p.F2222L	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			49	6885	+			2222			Helical; (Potential).		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.6666C>G	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431999	0.83776	.	.	ENSG00000096433	ENST00000374316	D	0.92397	-3.03	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.95881	0.8659	M	0.88310	2.945	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.992	D	0.96355	0.9261	10	0.72032	D	0.01	-33.3228	12.9344	0.58305	0.0:0.9214:0.0:0.0786	.	2222;1892	Q14573;Q59ES2	ITPR3_HUMAN;.	L	2222	ENSP00000363435:F2222L	ENSP00000363435:F2222L	F	+	3	2	ITPR3	33764508	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	2.585000	0.46111	2.358000	0.79984	0.561000	0.74099	TTC		0.612	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		18	68	0	0	0	0	18	68				
ZNF76	7629	broad.mit.edu	37	6	35260660	35260660	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:35260660G>T	ENST00000373953.3	+	11	1434	c.1168G>T	c.(1168-1170)Gcc>Tcc	p.A390S	ZNF76_ENST00000440666.2_Missense_Mutation_p.A364S|ZNF76_ENST00000339411.5_Missense_Mutation_p.A390S	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	390					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TCTCCCAGCCGCCTCTGCAGC	0.617																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	uc003oki.1		NA																	0					0						c.(1168-1170)GCC>TCC		zinc finger protein 76 (expressed in testis)							55.0	60.0	58.0					6																	35260660		2203	4300	6503	SO:0001583	missense	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35260660G>T	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1168G>T	6.37:g.35260660G>T	ENSP00000363064:p.Ala390Ser					ZNF76_uc003okj.1_Missense_Mutation_p.A390S	p.A390S	NM_003427	NP_003418	P36508	ZNF76_HUMAN			11	1373	+			390					Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	c.1168G>T	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	G	8.925	0.962076	0.18583	.	.	ENSG00000065029	ENST00000373953;ENST00000440666;ENST00000339411	T;T;T	0.10099	2.93;2.91;2.95	4.83	3.96	0.45880	.	0.000000	0.36740	N	0.002424	T	0.01454	0.0047	N	0.08118	0	0.09310	N	1	B;B	0.22683	0.073;0.043	B;B	0.19946	0.027;0.027	T	0.46386	-0.9195	10	0.21014	T	0.42	.	7.1113	0.25392	0.1965:0.0:0.8035:0.0	.	390;390	P36508-2;P36508	.;ZNF76_HUMAN	S	390;364;390	ENSP00000363064:A390S;ENSP00000392243:A364S;ENSP00000344097:A390S	ENSP00000344097:A390S	A	+	1	0	ZNF76	35368638	0.195000	0.23338	0.994000	0.49952	0.834000	0.47266	0.909000	0.28558	1.245000	0.43885	0.491000	0.48974	GCC		0.617	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		9	88	1	0	2.74e-10	2.94e-10	9	88				
C6orf222	389384	broad.mit.edu	37	6	36285134	36285134	+	Silent	SNP	C	C	T	rs370838422		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:36285134C>T	ENST00000437635.2	-	12	2135	c.1958G>A	c.(1957-1959)tGa>tAa	p.*653*		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	0										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						ACACAGCTTTCAATCTGGACT	0.443																																						uc003oly.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(1957-1959)TGA>TAA		hypothetical protein LOC389384		C		1,4405	2.1+/-5.4	0,1,2202	190.0	177.0	181.0		1958	1.5	0.8	6		181	0,8600		0,0,4300	no	coding-synonymous	C6orf222	NM_001010903.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		653/653	36285134	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	389384							g.chr6:36285134C>T		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.1958G>A	6.37:g.36285134C>T							p.*653*	NM_001010903	NP_001010903	P0C671	CF222_HUMAN			12	2136	-			653					B2RTY8	Silent	SNP	ENST00000437635.2	37	c.1958G>A	CCDS34439.1																																																																																				0.443	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		19	37	0	0	0	0	19	37				
GSTA3	2940	broad.mit.edu	37	6	52767169	52767169	+	Missense_Mutation	SNP	C	C	T	rs565494491	byFrequency	TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:52767169C>T	ENST00000211122.3	-	4	312	c.247G>A	c.(247-249)Ggg>Agg	p.G83R	GSTA3_ENST00000370968.1_Missense_Mutation_p.G33R	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	83	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	ATGTCTTTCCCGTAGAGGTTG	0.448													c|||	9	0.00179712	0.0	0.0	5008	,	,		19899	0.0		0.0	False		,,,				2504	0.0092					uc003pbb.2		NA																	0					0						c.(247-249)GGG>AGG		glutathione S-transferase alpha 3	Glutathione(DB00143)						208.0	205.0	206.0					6																	52767169		2203	4300	6503	SO:0001583	missense	2940				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52767169C>T	AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4628	protein-coding gene	gene with protein product		605449	"""glutathione S-transferase A3"""			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.247G>A	6.37:g.52767169C>T	ENSP00000211122:p.Gly83Arg					GSTA3_uc010jzq.2_Missense_Mutation_p.G27R	p.G83R	NM_000847	NP_000838	Q16772	GSTA3_HUMAN			4	326	-	Lung NSC(77;0.0912)		83			GST N-terminal.		O43468|Q068V6|Q8WWA8|Q9H415	Missense_Mutation	SNP	ENST00000211122.3	37	c.247G>A	CCDS4947.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529007	0.44969	.	.	ENSG00000174156	ENST00000370968;ENST00000211122;ENST00000431899	T;T;T	0.17213	2.68;2.68;2.29	4.16	3.29	0.37713	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase, N-terminal (1);Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	H	0.99927	4.965	0.47547	D	0.999457	D	0.67145	0.996	P	0.51701	0.677	T	0.69022	-0.5255	10	0.87932	D	0	.	11.8876	0.52610	0.0:0.9127:0.0:0.0873	.	83	Q16772	GSTA3_HUMAN	R	33;83;33	ENSP00000360007:G33R;ENSP00000211122:G83R;ENSP00000399142:G33R	ENSP00000211122:G83R	G	-	1	0	GSTA3	52875128	1.000000	0.71417	0.319000	0.25293	0.050000	0.14768	5.269000	0.65542	1.092000	0.41356	0.655000	0.94253	GGG		0.448	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1			50	147	0	0	0	0	50	147				
SNAP91	9892	broad.mit.edu	37	6	84311158	84311158	+	Splice_Site	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:84311158C>G	ENST00000439399.2	-	16	1473		c.e16-1		SNAP91_ENST00000520302.1_Splice_Site|SNAP91_ENST00000521485.1_Splice_Site|SNAP91_ENST00000428679.2_Splice_Site|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000521743.1_Splice_Site|SNAP91_ENST00000369694.2_Splice_Site|SNAP91_ENST00000195649.6_Splice_Site	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa						clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCCAAAGAATCTATATTTCAC	0.413																																						uc011dze.1		NA																	0				ovary(1)	1						c.e15-1		synaptosomal-associated protein, 91kDa homolog							70.0	70.0	70.0					6																	84311158		1912	4117	6029	SO:0001630	splice_region_variant	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84311158C>G	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1157-1G>C	6.37:g.84311158C>G						SNAP91_uc011dzd.1_Splice_Site|SNAP91_uc003pkb.2_Splice_Site_p.D349_splice|SNAP91_uc003pkc.2_Splice_Site_p.D384_splice|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Splice_Site_p.D384_splice	p.D386_splice	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	15	1474	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)						A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Splice_Site	SNP	ENST00000439399.2	37	c.1157_splice	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458194	0.43634	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743;ENST00000447888;ENST00000369691	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5633	0.95382	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SNAP91	84367877	1.000000	0.71417	0.996000	0.52242	0.535000	0.34838	4.918000	0.63376	2.630000	0.89119	0.563000	0.77884	.		0.413	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1		Intron	5	40	0	0	0	0	5	40				
CNR1	1268	broad.mit.edu	37	6	88854153	88854153	+	Missense_Mutation	SNP	C	C	A	rs140051374		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:88854153C>A	ENST00000537554.1	-	2	4403	c.841G>T	c.(841-843)Ggg>Tgg	p.G281W	CNR1_ENST00000549716.1_Missense_Mutation_p.G220W|CNR1_ENST00000468898.1_Missense_Mutation_p.G248W|CNR1_ENST00000369501.2_Missense_Mutation_p.G281W|CNR1_ENST00000535130.1_Missense_Mutation_p.G281W|CNR1_ENST00000549890.1_Missense_Mutation_p.G281W|CNR1_ENST00000369499.2_Missense_Mutation_p.G281W|CNR1_ENST00000428600.2_Missense_Mutation_p.G281W|CNR1_ENST00000362094.5_3'UTR	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	281					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CTGGTGACCCCGATCCAGAAC	0.532																																						uc011dzq.1		NA																	0				skin(2)	2						c.(841-843)GGG>TGG		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						80.0	70.0	73.0					6																	88854153		2203	4300	6503	SO:0001583	missense	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854153C>A	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.841G>T	6.37:g.88854153C>A	ENSP00000441046:p.Gly281Trp					CNR1_uc010kbz.2_Missense_Mutation_p.G281W|CNR1_uc011dzr.1_Missense_Mutation_p.G281W|CNR1_uc011dzs.1_Missense_Mutation_p.G281W|CNR1_uc003pmq.3_Missense_Mutation_p.G281W|CNR1_uc011dzt.1_Missense_Mutation_p.G281W|CNR1_uc010kca.2_Missense_Mutation_p.G248W	p.G281W	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4404	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	281			Helical; Name=5; (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.841G>T	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907489	0.52333	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	6.05	6.05	0.98169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56156	0.1966	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.99	T	0.54556	-0.8276	10	0.66056	D	0.02	.	20.6086	0.99469	0.0:1.0:0.0:0.0	.	248;281	P21554-3;P21554	.;CNR1_HUMAN	W	281;281;281;281;281;248;281;220	ENSP00000358513:G281W;ENSP00000442689:G281W;ENSP00000441046:G281W;ENSP00000358511:G281W;ENSP00000446819:G281W;ENSP00000420188:G248W;ENSP00000412192:G281W;ENSP00000449549:G220W	ENSP00000358511:G281W	G	-	1	0	CNR1	88910872	1.000000	0.71417	0.995000	0.50966	0.630000	0.37929	4.899000	0.63245	2.880000	0.98712	0.655000	0.94253	GGG		0.532	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			4	74	1	0	0.00909568	0.00929024	4	74				
MDN1	23195	broad.mit.edu	37	6	90402813	90402813	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:90402813C>T	ENST00000369393.3	-	63	10051	c.9936G>A	c.(9934-9936)aaG>aaA	p.K3312K	MDN1_ENST00000428876.1_Silent_p.K3312K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3312					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGCCTGTTTCTTCAACAGGT	0.512																																						uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(9934-9936)AAG>AAA		MDN1, midasin homolog							58.0	55.0	56.0					6																	90402813		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90402813C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.9936G>A	6.37:g.90402813C>T							p.K3312K	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	63	10052	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	3312					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.9936G>A	CCDS5024.1																																																																																				0.512	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			14	35	0	0	0	0	14	35				
BACH2	60468	broad.mit.edu	37	6	90648025	90648025	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:90648025C>A	ENST00000257749.4	-	8	2588	c.1881G>T	c.(1879-1881)agG>agT	p.R627S	BACH2_ENST00000537989.1_Missense_Mutation_p.R627S|BACH2_ENST00000343122.3_Missense_Mutation_p.R627S	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	627						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGAAATCGTTCCTTGGAAGAT	0.423																																						uc011eab.1		NA																	0				ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(1879-1881)AGG>AGT		BTB and CNC homology 1, basic leucine zipper							92.0	88.0	89.0					6																	90648025		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90648025C>A	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1881G>T	6.37:g.90648025C>A	ENSP00000257749:p.Arg627Ser					BACH2_uc003pnw.2_Missense_Mutation_p.R627S	p.R627S	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	8	2690	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	627					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.1881G>T	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575748	0.45902	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	D;D;D	0.91894	-2.93;-2.93;-2.93	4.68	3.79	0.43588	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.79986	0.4541	L	0.34521	1.04	0.46774	D	0.999192	B	0.12630	0.006	B	0.09377	0.004	T	0.78580	-0.2149	10	0.45353	T	0.12	-2.1465	9.1067	0.36703	0.0:0.7745:0.1456:0.0799	.	627	Q9BYV9	BACH2_HUMAN	S	627	ENSP00000257749:R627S;ENSP00000437473:R627S;ENSP00000345642:R627S	ENSP00000257749:R627S	R	-	3	2	BACH2	90704746	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.061000	0.49963	2.437000	0.82529	0.563000	0.77884	AGG		0.423	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		18	43	1	0	3.52e-12	3.79e-12	18	43				
ARMC2	84071	broad.mit.edu	37	6	109285456	109285456	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:109285456C>T	ENST00000392644.4	+	16	2394	c.2226C>T	c.(2224-2226)ctC>ctT	p.L742L	ARMC2_ENST00000481850.1_3'UTR|ARMC2_ENST00000368972.3_Silent_p.L577L	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	742										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		GTGTTCTCCTCAATCTCACTG	0.473																																						uc003pss.3		NA																	0					0						c.(2224-2226)CTC>CTT		armadillo repeat containing 2							173.0	136.0	149.0					6																	109285456		2203	4300	6503	SO:0001819	synonymous_variant	84071						binding	g.chr6:109285456C>T	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.2226C>T	6.37:g.109285456C>T						ARMC2_uc011eao.1_Silent_p.L577L	p.L742L	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	16	2400	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	742			ARM 11.		A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Silent	SNP	ENST00000392644.4	37	c.2226C>T	CCDS5069.2																																																																																				0.473	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		9	25	0	0	0	0	9	25				
ZBTB24	9841	broad.mit.edu	37	6	109788881	109788881	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:109788881G>A	ENST00000230122.3	-	6	1512	c.1345C>T	c.(1345-1347)Ctt>Ttt	p.L449F	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	449					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGGGTCTGAAGAGAACTCTTT	0.373																																						uc003ptl.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1345-1347)CTT>TTT		zinc finger and BTB domain containing 24 isoform							106.0	104.0	105.0					6																	109788881		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109788881G>A	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1345C>T	6.37:g.109788881G>A	ENSP00000230122:p.Leu449Phe					MICAL1_uc011eaq.1_5'Flank|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.L393F|ZBTB24_uc010kdt.1_RNA	p.L449F	NM_014797	NP_055612	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	6	1513	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	449			C2H2-type 6.		Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.1345C>T	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598800	0.87055	.	.	ENSG00000112365	ENST00000230122	T	0.52057	0.68	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	M	0.63843	1.955	0.41851	D	0.990177	D	0.89917	1.0	D	0.91635	0.999	T	0.63686	-0.6581	10	0.62326	D	0.03	-17.221	19.8557	0.96758	0.0:0.0:1.0:0.0	.	449	O43167	ZBT24_HUMAN	F	449	ENSP00000230122:L449F	ENSP00000230122:L449F	L	-	1	0	ZBTB24	109895574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.363000	0.73082	2.706000	0.92434	0.650000	0.86243	CTT		0.373	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		4	23	0	0	0	0	4	23				
RSPH4A	345895	broad.mit.edu	37	6	116938309	116938309	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:116938309G>A	ENST00000229554.5	+	1	660	c.523G>A	c.(523-525)Gag>Aag	p.E175K	RSPH4A_ENST00000368580.4_Missense_Mutation_p.E175K|RSPH4A_ENST00000368581.4_Missense_Mutation_p.E175K	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	175					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TAAACAGAAAGAGCTGAGATT	0.512									Kartagener syndrome																													uc003pxe.2		NA																	0					0						c.(523-525)GAG>AAG		radial spoke head 4 homolog A isoform 1							129.0	132.0	131.0					6																	116938309		2203	4300	6503	SO:0001583	missense	345895	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116938309G>A		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.523G>A	6.37:g.116938309G>A	ENSP00000229554:p.Glu175Lys					RSPH4A_uc010kee.2_Missense_Mutation_p.E175K	p.E175K	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN			1	668	+			175					B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	c.523G>A	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876346	0.33162	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000368580	T;T;T	0.67171	-0.25;1.39;1.3	5.53	4.63	0.57726	.	0.758248	0.12587	N	0.455888	T	0.47377	0.1442	L	0.29908	0.895	0.21697	N	0.999589	P;B	0.40731	0.728;0.421	P;B	0.46076	0.503;0.11	T	0.33828	-0.9853	10	0.33141	T	0.24	-2.9155	12.4822	0.55850	0.0:0.1668:0.8332:0.0	.	175;175	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	K	175	ENSP00000357570:E175K;ENSP00000229554:E175K;ENSP00000357569:E175K	ENSP00000229554:E175K	E	+	1	0	RSPH4A	117045002	0.956000	0.32656	0.989000	0.46669	0.286000	0.27126	2.060000	0.41394	2.882000	0.98803	0.655000	0.94253	GAG		0.512	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		33	116	0	0	0	0	33	116				
HIVEP2	3097	broad.mit.edu	37	6	143091557	143091557	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:143091557C>T	ENST00000367604.1	-	4	4958	c.4319G>A	c.(4318-4320)cGa>cAa	p.R1440Q	HIVEP2_ENST00000367603.2_Missense_Mutation_p.R1440Q|HIVEP2_ENST00000012134.2_Missense_Mutation_p.R1440Q			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1440					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(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGAAAGCATTCGCTTGCTACC	0.517																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(4318-4320)CGA>CAA		human immunodeficiency virus type I enhancer							113.0	114.0	113.0					6																	143091557		1978	4166	6144	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143091557C>T	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.4319G>A	6.37:g.143091557C>T	ENSP00000356576:p.Arg1440Gln						p.R1440Q	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	5062	-			1440					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.4319G>A	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824041	0.90873	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.23950	1.88;1.88;1.88	5.81	5.81	0.92471	.	0.053081	0.85682	D	0.000000	T	0.48874	0.1524	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.44667	-0.9313	10	0.52906	T	0.07	-16.4349	20.0826	0.97783	0.0:1.0:0.0:0.0	.	1440	P31629	ZEP2_HUMAN	Q	1440	ENSP00000356576:R1440Q;ENSP00000356575:R1440Q;ENSP00000012134:R1440Q	ENSP00000012134:R1440Q	R	-	2	0	HIVEP2	143133250	1.000000	0.71417	0.971000	0.41717	0.978000	0.69477	7.818000	0.86416	2.746000	0.94184	0.655000	0.94253	CGA		0.517	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			23	57	0	0	0	0	23	57				
IGF2R	3482	broad.mit.edu	37	6	160484469	160484469	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:160484469C>G	ENST00000356956.1	+	27	3841	c.3693C>G	c.(3691-3693)gaC>gaG	p.D1231E		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1231					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AGGTGAAAGACCCAAGGCATG	0.493																																						uc003qta.2		NA																	0				ovary(3)	3						c.(3691-3693)GAC>GAG		insulin-like growth factor 2 receptor precursor							142.0	131.0	134.0					6																	160484469		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160484469C>G	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3693C>G	6.37:g.160484469C>G	ENSP00000349437:p.Asp1231Glu						p.D1231E	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	27	3841	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1231			8.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.3693C>G	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523351	0.64747	.	.	ENSG00000197081	ENST00000356956	T	0.03553	3.89	5.19	1.84	0.25277	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.09247	0.0228	M	0.89287	3.02	0.54753	D	0.999987	D	0.89917	1.0	D	0.87578	0.998	T	0.06285	-1.0835	10	0.33141	T	0.24	-9.6382	7.4162	0.27047	0.0:0.5383:0.0:0.4617	.	1231	P11717	MPRI_HUMAN	E	1231	ENSP00000349437:D1231E	ENSP00000349437:D1231E	D	+	3	2	IGF2R	160404459	1.000000	0.71417	0.979000	0.43373	0.860000	0.49131	1.334000	0.33827	0.647000	0.30713	0.557000	0.71058	GAC		0.493	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		13	74	0	0	0	0	13	74				
PLG	5340	broad.mit.edu	37	6	161134112	161134112	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:161134112G>C	ENST00000308192.9	+	5	565	c.502G>C	c.(502-504)Gat>Cat	p.D168H	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	168	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTATACTACTGATCCAGAAAA	0.478																																						uc003qtm.3		NA																	0				skin(3)|ovary(1)	4						c.(502-504)GAT>CAT		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						147.0	144.0	145.0					6																	161134112		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161134112G>C	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.502G>C	6.37:g.161134112G>C	ENSP00000308938:p.Asp168His						p.D168H	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	5	565	+			168			Kringle 1.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.502G>C	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220415	0.39201	.	.	ENSG00000122194	ENST00000308192	T	0.65916	-0.18	5.11	1.56	0.23342	Kringle (4);Kringle-like fold (1);	0.173838	0.26567	U	0.023652	T	0.71719	0.3373	M	0.87038	2.855	0.58432	D	0.999999	D	0.61697	0.99	D	0.72625	0.978	T	0.74987	-0.3476	10	0.87932	D	0	.	10.0454	0.42184	0.2678:0.0:0.7322:0.0	.	168	P00747	PLMN_HUMAN	H	168	ENSP00000308938:D168H	ENSP00000308938:D168H	D	+	1	0	PLG	161054102	1.000000	0.71417	0.020000	0.16555	0.026000	0.11368	2.908000	0.48750	0.154000	0.19237	0.650000	0.86243	GAT		0.478	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		24	143	0	0	0	0	24	143				
SDK1	221935	broad.mit.edu	37	7	4213926	4213926	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:4213926G>T	ENST00000404826.2	+	33	5012	c.4873G>T	c.(4873-4875)Gcc>Tcc	p.A1625S	SDK1_ENST00000389531.3_Missense_Mutation_p.A1625S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1625	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGAGTATGAAGCCGGGTCAGG	0.552																																						uc003smx.2		NA																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(4873-4875)GCC>TCC		sidekick 1 precursor							205.0	198.0	200.0					7																	4213926		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4213926G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4873G>T	7.37:g.4213926G>T	ENSP00000385899:p.Ala1625Ser					SDK1_uc010kso.2_Missense_Mutation_p.A901S|SDK1_uc003smy.2_Missense_Mutation_p.A112S	p.A1625S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	33	5012	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1625			Fibronectin type-III 10.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.4873G>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	1.181	-0.638173	0.03557	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.55052	0.54;0.54	4.91	2.02	0.26589	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.406614	0.23398	N	0.048603	T	0.19886	0.0478	N	0.01686	-0.76	0.18873	N	0.999988	B;B;B	0.16802	0.004;0.005;0.019	B;B;B	0.23150	0.015;0.026;0.044	T	0.29671	-1.0004	10	0.06757	T	0.87	.	7.7629	0.28963	0.3909:0.0:0.6091:0.0	.	1625;112;1625	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	S	1625	ENSP00000385899:A1625S;ENSP00000374182:A1625S	ENSP00000374182:A1625S	A	+	1	0	SDK1	4180452	0.118000	0.22208	0.628000	0.29241	0.405000	0.30901	0.670000	0.25157	1.027000	0.39758	0.462000	0.41574	GCC		0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		42	256	1	0	1.39e-30	1.52e-30	42	256				
RSPH10B	222967	broad.mit.edu	37	7	5967846	5967846	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:5967846C>T	ENST00000405415.1	-	19	2799	c.2413G>A	c.(2413-2415)Gat>Aat	p.D805N	RSPH10B_ENST00000404406.1_Missense_Mutation_p.D805N|RSPH10B_ENST00000337579.3_Missense_Mutation_p.D805N|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000441023.2_Missense_Mutation_p.D805N|RSPH10B_ENST00000535104.1_5'UTR			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	805										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		AGTTCGTCATCTTCCATCTTC	0.522																																						uc003sph.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2413-2415)GAT>AAT		radial spoke head 10 homolog B							128.0	106.0	114.0					7																	5967846		2201	4293	6494	SO:0001583	missense	728194							g.chr7:5967846C>T		CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.2413G>A	7.37:g.5967846C>T	ENSP00000385443:p.Asp805Asn					RSPH10B2_uc003spg.1_Silent_p.K606K|RSPH10B2_uc010ktd.1_Missense_Mutation_p.D805N|RSPH10B2_uc011jwk.1_3'UTR	p.D805N	NM_173565	NP_775836	B2RC85	R10B2_HUMAN			20	2684	-			805			Potential.		A6NMW7|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000405415.1	37	c.2413G>A	CCDS34598.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.822|1.822	-0.471960|-0.471960	0.04445|0.04445	.|.	.|.	ENSG00000155026|ENSG00000155026	ENST00000405415;ENST00000404406;ENST00000337579;ENST00000441023|ENST00000354951	T;T;T;T|.	0.54279|.	0.58;0.58;0.58;0.58|.	4.79|4.79	-7.47|-7.47	0.01365|0.01365	.|.	1.709990|.	0.03669|.	N|.	0.243741|.	T|T	0.20901|0.20901	0.0503|0.0503	N|N	0.01576|0.01576	-0.805|-0.805	0.21020|0.21020	N|N	0.999807|0.999807	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.34551|0.34551	-0.9824|-0.9824	10|6	0.07175|0.87932	T|D	0.84|0	.|.	18.8598|18.8598	0.92267|0.92267	0.0:0.8258:0.0:0.1742|0.0:0.8258:0.0:0.1742	.|.	805|.	P0C881|.	R10B1_HUMAN|.	N|K	805|618	ENSP00000385443:D805N;ENSP00000384097:D805N;ENSP00000338556:D805N;ENSP00000400988:D805N|.	ENSP00000338556:D805N|ENSP00000347037:R618K	D|R	-|-	1|2	0|0	RSPH10B|RSPH10B	5934372|5934372	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-0.657000|-0.657000	0.05335|0.05335	-1.335000|-1.335000	0.02241|0.02241	-0.356000|-0.356000	0.07607|0.07607	GAT|AGA		0.522	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325465.2	NM_173565		46	253	0	0	0	0	46	253				
DGKB	1607	broad.mit.edu	37	7	14613864	14613864	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:14613864G>A	ENST00000403951.2	-	20	2165	c.1746C>T	c.(1744-1746)atC>atT	p.I582I	DGKB_ENST00000407950.1_Silent_p.I574I|DGKB_ENST00000402815.1_Silent_p.I581I|DGKB_ENST00000258767.5_Silent_p.I582I|DGKB_ENST00000399322.3_Silent_p.I582I|DGKB_ENST00000406247.3_Silent_p.I582I|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Silent_p.I563I			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	582					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)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						AATTATTGATGATACTGTAAG	0.358																																						uc003ssz.2		NA																	0				lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(1744-1746)ATC>ATT		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						230.0	212.0	217.0					7																	14613864		1879	4108	5987	SO:0001819	synonymous_variant	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14613864G>A	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1746C>T	7.37:g.14613864G>A						DGKB_uc011jxt.1_Silent_p.I563I|DGKB_uc003sta.2_Silent_p.I582I|DGKB_uc011jxu.1_Silent_p.I581I	p.I582I	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			19	1933	-			582					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	ENST00000403951.2	37	c.1746C>T	CCDS47547.1																																																																																				0.358	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		4	160	0	0	0	0	4	160				
TWIST1	7291	broad.mit.edu	37	7	19156446	19156446	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:19156446C>A	ENST00000242261.5	-	1	849	c.499G>T	c.(499-501)Gag>Tag	p.E167*	AC003986.6_ENST00000419944.1_RNA	NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	167	Sufficient for transactivation activity. {ECO:0000250}.				aortic valve morphogenesis (GO:0003180)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in heart valve development (GO:2000793)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cranial suture morphogenesis (GO:0060363)|embryonic camera-type eye formation (GO:0060900)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cushion morphogenesis (GO:0003203)|eyelid development in camera-type eye (GO:0061029)|in utero embryonic development (GO:0001701)|mitral valve morphogenesis (GO:0003183)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell motility (GO:2000147)|positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation (GO:2000802)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of bone mineralization (GO:0030500)|rhythmic process (GO:0048511)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription factor binding (GO:0008134)			lung(2)|upper_aerodigestive_tract(1)	3						GAGTCCAGCTCGTCGCTCTGG	0.617																																						uc003sum.2		NA																	0					0						c.(499-501)GAG>TAG		twist							92.0	76.0	81.0					7																	19156446		2203	4300	6503	SO:0001587	stop_gained	7291	Saethre-Chotzen_syndrome			aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr7:19156446C>A	U80998	CCDS5367.1	7p21	2014-02-07	2013-10-17	2003-03-28	ENSG00000122691	ENSG00000122691		"""Basic helix-loop-helix proteins"""	12428	protein-coding gene	gene with protein product	"""Saethre-Chotzen syndrome"""	601622	"""blepharophimosis, epicanthus inversus and ptosis 3"", ""acrocephalosyndactyly 3"", ""twist homolog 1 (Drosophila)"", ""twist basic helix-loop-helix transcription factor 1"", ""craniosynostosis"""	ACS3, BPES3, TWIST, CRS		8995765, 11474656, 17343269	Standard	XR_428085		Approved	SCS, H-twist, BPES2, bHLHa38, CRS1	uc003sum.3	Q15672	OTTHUMG00000090821	ENST00000242261.5:c.499G>T	7.37:g.19156446C>A	ENSP00000242261:p.Glu167*						p.E167*	NM_000474	NP_000465	Q15672	TWST1_HUMAN			1	850	-			167			Sufficient for transactivation activity (By similarity).		A4D128|Q92487|Q99804	Nonsense_Mutation	SNP	ENST00000242261.5	37	c.499G>T	CCDS5367.1	.	.	.	.	.	.	.	.	.	.	c	29.8	5.036596	0.93630	.	.	ENSG00000122691	ENST00000242261	.	.	.	4.77	4.77	0.60923	.	0.000000	0.48767	D	0.000164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-16.7111	17.3993	0.87455	0.0:1.0:0.0:0.0	.	.	.	.	X	167	.	ENSP00000242261:E167X	E	-	1	0	TWIST1	19122971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.690000	0.84178	2.194000	0.70268	0.455000	0.32223	GAG		0.617	TWIST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207625.1	NM_000474		9	18	1	0	1.59e-06	1.68e-06	9	18				
ABCB5	340273	broad.mit.edu	37	7	20739704	20739704	+	Silent	SNP	G	G	T	rs148327292	byFrequency	TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:20739704G>T	ENST00000404938.2	+	19	2935	c.2283G>T	c.(2281-2283)ggG>ggT	p.G761G	ABCB5_ENST00000258738.6_Silent_p.G316G	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	761	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCAGAGCAGGGGAAATTTTAA	0.284																																						uc003suw.3		NA																	0				skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(946-948)GGG>GGT		ATP-binding cassette, sub-family B, member 5							88.0	91.0	90.0					7																	20739704		2203	4298	6501	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20739704G>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2283G>T	7.37:g.20739704G>T						ABCB5_uc010kuh.2_Silent_p.G761G	p.G316G	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			10	1494	+			316			Extracellular (Potential).|ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.948G>T	CCDS55090.1																																																																																				0.284	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		12	39	1	0	0.00244969	0.00251893	12	39				
DNAH11	8701	broad.mit.edu	37	7	21621571	21621571	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:21621571G>C	ENST00000409508.3	+	9	1673	c.1642G>C	c.(1642-1644)Gac>Cac	p.D548H	DNAH11_ENST00000328843.6_Missense_Mutation_p.D548H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	548	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTGGAATTTGACAGAAGGCT	0.333									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(1642-1644)GAC>CAC		dynein, axonemal, heavy chain 11							108.0	102.0	104.0					7																	21621571		1808	4077	5885	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21621571G>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1642G>C	7.37:g.21621571G>C	ENSP00000475939:p.Asp548His						p.D548H	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			9	1673	+			548			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.1642G>C		.	.	.	.	.	.	.	.	.	.	g	21.2	4.116026	0.77323	.	.	ENSG00000105877	ENST00000328843	T	0.58358	0.34	5.96	5.08	0.68730	Dynein heavy chain, domain-1 (1);	0.497453	0.21436	N	0.074572	T	0.75547	0.3864	M	0.88570	2.965	0.58432	D	0.999994	D	0.76494	0.999	D	0.69824	0.966	T	0.79210	-0.1897	10	0.51188	T	0.08	.	14.0293	0.64606	0.0736:0.0:0.9264:0.0	.	548	Q96DT5	DYH11_HUMAN	H	548	ENSP00000330671:D548H	ENSP00000330671:D548H	D	+	1	0	DNAH11	21588096	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.751000	0.55165	1.526000	0.49068	0.586000	0.80456	GAC		0.333	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		3	92	0	0	0	0	3	92				
DNAH11	8701	broad.mit.edu	37	7	21639530	21639530	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:21639530G>A	ENST00000409508.3	+	15	2824	c.2793G>A	c.(2791-2793)ctG>ctA	p.L931L	DNAH11_ENST00000328843.6_Silent_p.L931L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	931	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTTCTTTCTGAAGAATACAG	0.403									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(2791-2793)CTG>CTA		dynein, axonemal, heavy chain 11							82.0	77.0	79.0					7																	21639530		1835	4084	5919	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21639530G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2793G>A	7.37:g.21639530G>A							p.L931L	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			15	2824	+			931			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.2793G>A																																																																																					0.403	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		13	16	0	0	0	0	13	16				
NT5C3A	51251	broad.mit.edu	37	7	33060909	33060909	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:33060909C>G	ENST00000242210.7	-	5	506	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	NT5C3A_ENST00000610140.1_Missense_Mutation_p.E139Q|NT5C3A_ENST00000405342.1_Missense_Mutation_p.E105Q|NT5C3A_ENST00000409467.1_Missense_Mutation_p.E93Q|NT5C3A_ENST00000396152.2_Missense_Mutation_p.E105Q|NT5C3A_ENST00000409787.1_Missense_Mutation_p.E105Q|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000381626.2_Missense_Mutation_p.E93Q	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	144				E -> Q (in Ref. 11; AA sequence). {ECO:0000305}.	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)										GGGTACTTCTCTTCTACAGTA	0.313																																						uc003tdk.2		NA																	0				ovary(1)	1						c.(430-432)GAG>CAG		5'-nucleotidase, cytosolic III isoform 1							106.0	108.0	107.0					7																	33060909		2203	4293	6496	SO:0001583	missense	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.chr7:33060909C>G	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.430G>C	7.37:g.33060909C>G	ENSP00000242210:p.Glu144Gln					AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Missense_Mutation_p.E105Q|NT5C3_uc003tdj.2_Missense_Mutation_p.E105Q	p.E144Q	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		5	507	-			144	E -> Q (in Ref. 11; AA sequence).				A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	ENST00000242210.7	37	c.430G>C	CCDS34616.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842559	0.51057	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467;ENST00000409787	D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	5.68	1.6	0.23607	HAD-like domain (1);	0.147364	0.64402	N	0.000012	D	0.88966	0.6581	M	0.90483	3.12	0.80722	D	1	B;B	0.29232	0.168;0.238	B;B	0.21917	0.037;0.021	D	0.86246	0.1646	10	0.66056	D	0.02	.	17.8295	0.88677	0.0:0.5315:0.4685:0.0	.	144;105	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	Q	93;105;144;105;93;105	ENSP00000371039:E93Q;ENSP00000379456:E105Q;ENSP00000242210:E144Q;ENSP00000385261:E105Q;ENSP00000387166:E93Q;ENSP00000387205:E105Q	ENSP00000242210:E144Q	E	-	1	0	NT5C3	33027434	1.000000	0.71417	0.980000	0.43619	0.971000	0.66376	4.056000	0.57448	0.013000	0.14918	-0.165000	0.13383	GAG		0.313	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489		19	68	0	0	0	0	19	68				
NPC1L1	29881	broad.mit.edu	37	7	44578910	44578910	+	Silent	SNP	C	C	T	rs201987651	byFrequency	TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:44578910C>T	ENST00000289547.4	-	2	1141	c.1086G>A	c.(1084-1086)ccG>ccA	p.P362P	NPC1L1_ENST00000546276.1_Silent_p.P362P|NPC1L1_ENST00000423141.1_Silent_p.P362P|NPC1L1_ENST00000381160.3_Silent_p.P362P	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	362					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGGCCACCACCGGGATGACAG	0.622													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17938	0.001		0.0	False		,,,				2504	0.0					uc003tlb.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1084-1086)CCG>CCA		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)	C	,	1,4405	2.1+/-5.4	0,1,2202	84.0	87.0	86.0		1086,1086	-4.2	0.0	7		86	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NPC1L1	NM_001101648.1,NM_013389.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	362/1333,362/1360	44578910	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44578910C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1086G>A	7.37:g.44578910C>T						NPC1L1_uc003tlc.2_Silent_p.P362P|NPC1L1_uc011kbw.1_Silent_p.P362P|NPC1L1_uc003tld.2_Silent_p.P362P	p.P362P	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			2	1142	-			362			Helical; Name=2; (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.1086G>A	CCDS5491.1																																																																																				0.622	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		34	101	0	0	0	0	34	101				
POM121L12	285877	broad.mit.edu	37	7	53103789	53103789	+	Missense_Mutation	SNP	C	C	T	rs201288573	byFrequency	TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:53103789C>T	ENST00000408890.4	+	1	441	c.425C>T	c.(424-426)gCg>gTg	p.A142V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	142								p.A142V(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ATCGGGATCGCGCCCCCTGAG	0.721													C|||	3	0.000599042	0.0023	0.0	5008	,	,		11583	0.0		0.0	False		,,,				2504	0.0					uc003tpz.2		NA																	1	Substitution - Missense(1)		skin(1)		0						c.(424-426)GCG>GTG		POM121 membrane glycoprotein-like 12		C	VAL/ALA	9,3895		0,9,1943	21.0	25.0	24.0		425	1.6	0.0	7		24	0,8204		0,0,4102	yes	missense	POM121L12	NM_182595.3	64	0,9,6045	TT,TC,CC		0.0,0.2305,0.0743	possibly-damaging	142/297	53103789	9,12099	1952	4102	6054	SO:0001583	missense	285877							g.chr7:53103789C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.425C>T	7.37:g.53103789C>T	ENSP00000386133:p.Ala142Val						p.A142V	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	441	+			142					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.425C>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575627	0.45902	0.002305	0.0	ENSG00000221900	ENST00000408890	T	0.49432	0.78	1.63	1.63	0.23807	.	.	.	.	.	T	0.47116	0.1428	L	0.34521	1.04	0.09310	N	1	D	0.63880	0.993	P	0.56751	0.805	T	0.25641	-1.0126	9	0.59425	D	0.04	.	6.727	0.23363	0.0:1.0:0.0:0.0	.	142	Q8N7R1	P1L12_HUMAN	V	142	ENSP00000386133:A142V	ENSP00000386133:A142V	A	+	2	0	POM121L12	53071283	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.010000	0.12743	1.251000	0.43983	0.462000	0.41574	GCG		0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		13	30	0	0	0	0	13	30				
EGFR	1956	broad.mit.edu	37	7	55224337	55224337	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:55224337C>A	ENST00000275493.2	+	9	1295	c.1118C>A	c.(1117-1119)cCg>cAg	p.P373Q	EGFR_ENST00000455089.1_Missense_Mutation_p.P328Q|EGFR_ENST00000454757.2_Missense_Mutation_p.P320Q|EGFR_ENST00000420316.2_Missense_Mutation_p.P373Q|EGFR_ENST00000342916.3_Missense_Mutation_p.P373Q|EGFR_ENST00000442591.1_Missense_Mutation_p.P373Q|EGFR_ENST00000344576.2_Missense_Mutation_p.P373Q	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	373					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CACATCCTGCCGGTGGCATTT	0.403		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1117-1119)CCG>CAG		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						80.0	83.0	82.0					7																	55224337		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55224337C>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1118C>A	7.37:g.55224337C>A	ENSP00000275493:p.Pro373Gln	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.P373Q|EGFR_uc003tqi.2_Missense_Mutation_p.P373Q|EGFR_uc003tqj.2_Missense_Mutation_p.P373Q|EGFR_uc010kzg.1_Missense_Mutation_p.P328Q|EGFR_uc011kco.1_Missense_Mutation_p.P320Q|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	p.P373Q	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		9	1364	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		373			Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1118C>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086766	0.36855	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.95	5.95	0.96441	EGF receptor, L domain (1);	0.210787	0.51477	D	0.000084	T	0.53061	0.1773	N	0.26042	0.785	0.37746	D	0.925788	P;D;D;D;P	0.65815	0.743;0.995;0.959;0.983;0.948	P;D;B;P;P	0.68483	0.497;0.958;0.404;0.672;0.544	T	0.53690	-0.8403	10	0.45353	T	0.12	.	18.9492	0.92635	0.0:1.0:0.0:0.0	.	328;373;373;373;373	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	Q	328;373;243;373;373;373;373;320;167	ENSP00000415559:P328Q;ENSP00000342376:P373Q;ENSP00000345973:P373Q;ENSP00000413843:P373Q;ENSP00000275493:P373Q;ENSP00000410031:P373Q;ENSP00000395243:P320Q	ENSP00000275493:P373Q	P	+	2	0	EGFR	55191831	0.559000	0.26562	0.977000	0.42913	0.776000	0.43924	1.333000	0.33816	2.825000	0.97269	0.655000	0.94253	CCG		0.403	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		13	57	1	0	1.36e-06	1.44e-06	13	57				
SUMF2	25870	broad.mit.edu	37	7	56142396	56142396	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:56142396G>A	ENST00000413756.1	+	5	525	c.502G>A	c.(502-504)Gag>Aag	p.E168K	SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.E172K|SUMF2_ENST00000342190.6_Missense_Mutation_p.E187K|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000434526.2_Missense_Mutation_p.E187K|SUMF2_ENST00000275607.9_Missense_Mutation_p.E80K			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	168					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACGGAGGAAGAGTGGGAGTT	0.567											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003trv.2		NA																	0				ovary(1)|skin(1)	2						c.(559-561)GAG>AAG		sulfatase modifying factor 2 isoform e							86.0	88.0	87.0					7																	56142396		2203	4300	6503	SO:0001583	missense	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56142396G>A	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.502G>A	7.37:g.56142396G>A	ENSP00000406445:p.Glu168Lys		OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_Intron|SUMF2_uc011kcw.1_Missense_Mutation_p.E187K|SUMF2_uc011kcx.1_Intron|SUMF2_uc003trt.2_Missense_Mutation_p.E80K|SUMF2_uc011kcy.1_Missense_Mutation_p.E172K|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_Intron|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron	p.E187K	NM_001130069	NP_001123541	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	590	+	Breast(14;0.214)		168					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Missense_Mutation	SNP	ENST00000413756.1	37	c.559G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.833250	0.97003	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000275607;ENST00000413952;ENST00000342190;ENST00000413756;ENST00000451338	T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.53	5.53	0.82687	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.000000	0.85682	D	0.000000	D	0.90937	0.7151	H	0.98487	4.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.982	D	0.93986	0.7262	10	0.87932	D	0	-0.7941	18.8414	0.92186	0.0:0.0:1.0:0.0	.	172;168;187	A8MXB9;Q8NBJ7;F8WA42	.;SUMF2_HUMAN;.	K	172;187;80;190;187;168;185	ENSP00000378824:E172K;ENSP00000400922:E187K;ENSP00000275607:E80K;ENSP00000414434:E190K;ENSP00000341938:E187K;ENSP00000406445:E168K;ENSP00000410796:E185K	ENSP00000275607:E80K	E	+	1	0	SUMF2	56109890	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.603000	0.98315	2.777000	0.95525	0.591000	0.81541	GAG		0.567	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411		7	112	0	0	0	0	7	112				
LIMK1	3984	broad.mit.edu	37	7	73520530	73520530	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:73520530C>T	ENST00000336180.2	+	7	889	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	LIMK1_ENST00000538333.3_Missense_Mutation_p.P246S|LIMK1_ENST00000418310.1_Missense_Mutation_p.P310S	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	280					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	GGCTTATACTCCCAGCGGGGA	0.657																																						uc003uaa.1		NA																	0				stomach(2)|ovary(1)	3						c.(838-840)CCC>TCC		LIM domain kinase 1							87.0	104.0	98.0					7																	73520530		2203	4300	6503	SO:0001583	missense	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73520530C>T	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.838C>T	7.37:g.73520530C>T	ENSP00000336740:p.Pro280Ser					RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.P246S|LIMK1_uc003uac.1_Missense_Mutation_p.P72S	p.P280S	NM_002314	NP_002305	P53667	LIMK1_HUMAN			7	1003	+		Lung NSC(55;0.137)	280					B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	c.838C>T	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	C	7.577	0.668015	0.14710	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	T;T;T	0.74737	-0.85;-0.84;-0.87	4.84	3.96	0.45880	.	0.110627	0.64402	D	0.000006	T	0.57770	0.2076	L	0.45581	1.43	0.46725	D	0.999176	B;B;B	0.32829	0.386;0.059;0.256	B;B;B	0.28553	0.091;0.013;0.063	T	0.53774	-0.8391	10	0.02654	T	1	-33.0905	7.696	0.28596	0.0:0.808:0.0:0.192	.	175;246;280	Q59FA3;B7Z6I8;P53667	.;.;LIMK1_HUMAN	S	310;280;280;246	ENSP00000409717:P310S;ENSP00000336740:P280S;ENSP00000444452:P246S	ENSP00000336740:P280S	P	+	1	0	LIMK1	73158466	0.991000	0.36638	0.636000	0.29352	0.035000	0.12851	3.045000	0.49838	1.056000	0.40484	0.555000	0.69702	CCC		0.657	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		36	176	0	0	0	0	36	176				
LIMK1	3984	broad.mit.edu	37	7	73521420	73521420	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:73521420C>G	ENST00000336180.2	+	8	1013	c.962C>G	c.(961-963)tCt>tGt	p.S321C	LIMK1_ENST00000538333.3_Missense_Mutation_p.S287C|LIMK1_ENST00000418310.1_Missense_Mutation_p.S351C	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	321					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	CTGGGTCGCTCTGAGTCCCTC	0.697																																						uc003uaa.1		NA																	0				stomach(2)|ovary(1)	3						c.(961-963)TCT>TGT		LIM domain kinase 1							31.0	30.0	30.0					7																	73521420		2202	4299	6501	SO:0001583	missense	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73521420C>G	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.962C>G	7.37:g.73521420C>G	ENSP00000336740:p.Ser321Cys					RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.S287C|LIMK1_uc003uac.1_Missense_Mutation_p.S113C	p.S321C	NM_002314	NP_002305	P53667	LIMK1_HUMAN			8	1127	+		Lung NSC(55;0.137)	321					B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	c.962C>G	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915659	0.52546	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	T;T;T	0.77098	-1.05;-1.04;-1.07	5.19	5.19	0.71726	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84329	0.5448	M	0.75615	2.305	0.80722	D	1	D;D;D	0.62365	0.991;0.981;0.96	P;P;P	0.53954	0.707;0.738;0.67	D	0.86787	0.1983	10	0.87932	D	0	-17.2488	16.2751	0.82640	0.0:1.0:0.0:0.0	.	216;287;321	Q59FA3;B7Z6I8;P53667	.;.;LIMK1_HUMAN	C	351;321;321;287	ENSP00000409717:S351C;ENSP00000336740:S321C;ENSP00000444452:S287C	ENSP00000336740:S321C	S	+	2	0	LIMK1	73159356	1.000000	0.71417	0.992000	0.48379	0.926000	0.56050	7.426000	0.80270	2.439000	0.82584	0.650000	0.86243	TCT		0.697	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		3	18	0	0	0	0	3	18				
CACNA2D1	781	broad.mit.edu	37	7	81662153	81662153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:81662153C>T	ENST00000356253.5	-	12	1358	c.1103G>A	c.(1102-1104)aGa>aAa	p.R368K	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.R368K|MIR1255B1_ENST00000439234.1_RNA|CACNA2D1_ENST00000464354.1_5'UTR			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	368	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTCCTGGGCTCTCTCTTCTCC	0.279																																						uc003uhr.1		NA																	0				ovary(5)|pancreas(1)	6						c.(1102-1104)AGA>AAA		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						79.0	80.0	80.0					7																	81662153		2203	4299	6502	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81662153C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1103G>A	7.37:g.81662153C>T	ENSP00000348589:p.Arg368Lys						p.R368K	NM_000722	NP_000713	P54289	CA2D1_HUMAN			12	1359	-			368			Extracellular (Potential).|VWFA.		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.1103G>A		.	.	.	.	.	.	.	.	.	.	C	13.16	2.153779	0.38021	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.13420	2.59;2.59	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.09949	0.0244	N	0.25426	0.745	0.80722	D	1	B	0.16166	0.016	B	0.17098	0.017	T	0.21415	-1.0246	10	0.25106	T	0.35	-26.8132	10.1928	0.43037	0.0:0.8532:0.0:0.1468	.	368	P54289-2	.	K	368	ENSP00000349320:R368K;ENSP00000348589:R368K	ENSP00000284088:R368K	R	-	2	0	CACNA2D1	81500089	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.827000	0.39102	2.673000	0.90976	0.585000	0.79938	AGA		0.279	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				13	24	0	0	0	0	13	24				
STEAP4	79689	broad.mit.edu	37	7	87913538	87913538	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:87913538G>A	ENST00000380079.4	-	2	148	c.47C>T	c.(46-48)tCa>tTa	p.S16L	AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.S16L|STEAP4_ENST00000414498.1_Missense_Mutation_p.S16L|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	16					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TTGCTTTTCTGAAGAATTCAT	0.353																																						uc003ujs.2		NA																	0					0						c.(46-48)TCA>TTA		tumor necrosis factor, alpha-induced protein 9							53.0	52.0	52.0					7																	87913538		1816	4077	5893	SO:0001583	missense	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87913538G>A	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.47C>T	7.37:g.87913538G>A	ENSP00000369419:p.Ser16Leu					STEAP4_uc010lek.2_Missense_Mutation_p.S16L|STEAP4_uc003ujt.2_Missense_Mutation_p.S16L	p.S16L	NM_024636	NP_078912	Q687X5	STEA4_HUMAN			2	152	-	Esophageal squamous(14;0.00802)		16					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	c.47C>T	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	G	7.069	0.568018	0.13560	.	.	ENSG00000127954	ENST00000380079;ENST00000301959;ENST00000414498	T;T;T	0.11930	3.27;2.73;2.93	6.07	4.19	0.49359	NAD(P)-binding domain (1);	0.814843	0.11724	N	0.535637	T	0.09686	0.0238	L	0.27053	0.805	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.08055	0.003;0.002;0.002	T	0.22487	-1.0215	10	0.33940	T	0.23	-1.6463	6.6085	0.22739	0.1464:0.0:0.7074:0.1461	.	16;16;16	Q687X5-2;C9JS50;Q687X5	.;.;STEA4_HUMAN	L	16	ENSP00000369419:S16L;ENSP00000305545:S16L;ENSP00000394399:S16L	ENSP00000305545:S16L	S	-	2	0	STEAP4	87751474	0.220000	0.23631	0.983000	0.44433	0.208000	0.24298	1.182000	0.32029	1.584000	0.49913	0.655000	0.94253	TCA		0.353	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		10	34	0	0	0	0	10	34				
NPTX2	4885	broad.mit.edu	37	7	98256620	98256620	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:98256620C>G	ENST00000265634.3	+	4	1197	c.1032C>G	c.(1030-1032)atC>atG	p.I344M		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	344	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GGCACCCCATCAAGCCCGGGG	0.662																																						uc003upl.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(1030-1032)ATC>ATG		neuronal pentraxin II precursor							63.0	53.0	56.0					7																	98256620		2203	4300	6503	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98256620C>G		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1032C>G	7.37:g.98256620C>G	ENSP00000265634:p.Ile344Met						p.I344M	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1209	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		344			Pentaxin.		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.1032C>G	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677296	0.68042	.	.	ENSG00000106236	ENST00000265634	T	0.08634	3.07	5.39	3.52	0.40303	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.33614	0.0869	M	0.93594	3.435	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.19063	-1.0317	10	0.87932	D	0	-2.161	7.425	0.27094	0.0:0.6862:0.0:0.3138	.	344	P47972	NPTX2_HUMAN	M	344	ENSP00000265634:I344M	ENSP00000265634:I344M	I	+	3	3	NPTX2	98094556	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.760000	0.38430	1.374000	0.46228	0.655000	0.94253	ATC		0.662	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		16	40	0	0	0	0	16	40				
TRRAP	8295	broad.mit.edu	37	7	98545957	98545957	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:98545957G>C	ENST00000359863.4	+	33	4850	c.4641G>C	c.(4639-4641)ctG>ctC	p.L1547L	TRRAP_ENST00000355540.3_Silent_p.L1529L|TRRAP_ENST00000446306.3_Silent_p.L1528L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1547					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGGCGATGCTGATCGAGGTAA	0.512																																						uc003upp.2		NA																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(4639-4641)CTG>CTC		transformation/transcription domain-associated							86.0	76.0	79.0					7																	98545957		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98545957G>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4641G>C	7.37:g.98545957G>C						TRRAP_uc011kis.1_Silent_p.L1529L|TRRAP_uc003upr.2_Silent_p.L1246L	p.L1547L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		33	4850	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1547					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.4641G>C	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	2.079	-0.411296	0.04799	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.74	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3823	0.21542	0.2011:0.0:0.6682:0.1307	.	.	.	.	S	1269	.	.	X	+	2	2	TRRAP	98383893	1.000000	0.71417	0.998000	0.56505	0.239000	0.25481	0.749000	0.26320	0.859000	0.35456	0.561000	0.74099	TGA		0.512	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		13	50	0	0	0	0	13	50				
MCM7	4176	broad.mit.edu	37	7	99696309	99696309	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:99696309G>A	ENST00000303887.5	-	6	1257	c.612C>T	c.(610-612)atC>atT	p.I204I	AP4M1_ENST00000359593.4_5'Flank|MCM7_ENST00000354230.3_Silent_p.I28I|AP4M1_ENST00000421755.1_5'Flank|AP4M1_ENST00000429084.1_5'Flank|MCM7_ENST00000343023.6_Silent_p.I204I	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	204					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTGGGCACATGATCAGAGGCA	0.517																																						uc003usw.1		NA																	0					0						c.(610-612)ATC>ATT		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						85.0	90.0	88.0					7																	99696309		2203	4300	6503	SO:0001819	synonymous_variant	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99696309G>A		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.612C>T	7.37:g.99696309G>A						MCM7_uc003usv.1_Silent_p.I28I|MCM7_uc003usx.1_Silent_p.I28I|AP4M1_uc011kjg.1_5'Flank|AP4M1_uc010lgl.1_5'Flank|AP4M1_uc003utb.3_5'Flank|AP4M1_uc003utc.3_5'Flank|AP4M1_uc010lgm.2_5'Flank|AP4M1_uc003utd.2_5'Flank	p.I204I	NM_005916	NP_005907	P33993	MCM7_HUMAN			6	1122	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		204					A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Silent	SNP	ENST00000303887.5	37	c.612C>T	CCDS5683.1																																																																																				0.517	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			25	88	0	0	0	0	25	88				
TAF6	6878	broad.mit.edu	37	7	99710524	99710524	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:99710524C>T	ENST00000344095.4	-	6	996	c.471G>A	c.(469-471)caG>caA	p.Q157Q	TAF6_ENST00000418432.2_Silent_p.Q81Q|TAF6_ENST00000453269.2_Silent_p.Q157Q|TAF6_ENST00000472509.1_Silent_p.Q214Q|TAF6_ENST00000437822.2_Silent_p.Q194Q|TAF6_ENST00000452041.1_Silent_p.Q157Q|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000497233.1_5'Flank	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	157					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q157Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTCAGCCTTCTGTTGCTCTT	0.602																																						uc003uti.2		NA																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(469-471)CAG>CAA		TBP-associated factor 6 isoform alpha							155.0	159.0	158.0					7																	99710524		2203	4300	6503	SO:0001819	synonymous_variant	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99710524C>T		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.471G>A	7.37:g.99710524C>T						TAF6_uc003utg.2_Silent_p.Q79Q|TAF6_uc003uth.2_Silent_p.Q214Q|TAF6_uc003utk.2_Silent_p.Q157Q|TAF6_uc011kji.1_Silent_p.Q194Q|TAF6_uc003utj.2_Silent_p.Q147Q|TAF6_uc003utl.2_Silent_p.Q157Q|TAF6_uc003utm.2_Silent_p.Q157Q|TAF6_uc003utn.1_RNA	p.Q157Q	NM_139315	NP_647476	P49848	TAF6_HUMAN			6	552	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		157					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Silent	SNP	ENST00000344095.4	37	c.471G>A	CCDS5686.1																																																																																				0.602	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		77	187	0	0	0	0	77	187				
FBXL13	222235	broad.mit.edu	37	7	102553560	102553560	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:102553560G>C	ENST00000313221.4	-	11	1407	c.981C>G	c.(979-981)atC>atG	p.I327M	FBXL13_ENST00000393772.2_Missense_Mutation_p.I327M|LRRC17_ENST00000339431.4_5'UTR|FBXL13_ENST00000455112.2_Missense_Mutation_p.I327M|FBXL13_ENST00000379305.3_Missense_Mutation_p.I327M|FBXL13_ENST00000456695.1_Missense_Mutation_p.I327M|FBXL13_ENST00000436908.1_Missense_Mutation_p.I327M|FBXL13_ENST00000379308.3_Missense_Mutation_p.I327M|FBXL13_ENST00000379306.3_Missense_Mutation_p.I327M|LRRC17_ENST00000249377.4_5'UTR	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	327										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GGTCCAGATAGATGAGCTTGT	0.488																																						uc003vaq.2		NA																	0					0						c.(979-981)ATC>ATG		F-box and leucine-rich repeat protein 13 isoform							151.0	133.0	139.0					7																	102553560		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102553560G>C	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.981C>G	7.37:g.102553560G>C	ENSP00000321927:p.Ile327Met					FBXL13_uc010liq.1_Missense_Mutation_p.I142M|FBXL13_uc010lir.1_Missense_Mutation_p.I327M|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.I327M|LRRC17_uc003vat.2_5'UTR|LRRC17_uc003vau.2_5'UTR	p.I327M	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			11	1408	-			327			LRR 4.		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.981C>G	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922183	0.73213	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.02369	4.32;4.32;4.32;4.32;4.32;4.32;4.32;4.32	5.43	4.55	0.56014	.	0.130730	0.48286	D	0.000192	T	0.09774	0.0240	L	0.45051	1.395	0.80722	D	1	D;D;D;D	0.76494	0.997;0.998;0.999;0.997	D;D;D;D	0.74348	0.946;0.983;0.983;0.981	T	0.08452	-1.0721	10	0.49607	T	0.09	.	14.0495	0.64727	0.072:0.0:0.928:0.0	.	327;327;327;327	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	M	327	ENSP00000377367:I327M;ENSP00000368610:I327M;ENSP00000368608:I327M;ENSP00000368607:I327M;ENSP00000388608:I327M;ENSP00000321927:I327M;ENSP00000409716:I327M;ENSP00000391550:I327M	ENSP00000321927:I327M	I	-	3	3	FBXL13	102340796	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.046000	0.64226	1.520000	0.48965	0.655000	0.94253	ATC		0.488	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		5	22	0	0	0	0	5	22				
FSCN3	29999	broad.mit.edu	37	7	127236417	127236417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:127236417C>T	ENST00000265825.5	+	3	1096	c.877C>T	c.(877-879)Cga>Tga	p.R293*	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_Nonsense_Mutation_p.R159*	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	293						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCGCTTAAACCGAATGTCCTT	0.537																																						uc003vmd.1		NA																	0				ovary(1)	1						c.(877-879)CGA>TGA		fascin 3							273.0	234.0	247.0					7																	127236417		2203	4300	6503	SO:0001587	stop_gained	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127236417C>T		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.877C>T	7.37:g.127236417C>T	ENSP00000265825:p.Arg293*					FSCN3_uc011koh.1_Nonsense_Mutation_p.R159*|FSCN3_uc010llc.1_Nonsense_Mutation_p.R293*	p.R293*	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN			3	1096	+			293					A4D0Z2|A6NLL7|B2RA62|B4DU68	Nonsense_Mutation	SNP	ENST00000265825.5	37	c.877C>T	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797598	0.70567	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	.	.	.	5.55	3.68	0.42216	.	0.572948	0.16850	N	0.196976	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-47.5664	7.6779	0.28497	0.0:0.7982:0.0:0.2018	.	.	.	.	X	293;159	.	ENSP00000265825:R293X	R	+	1	2	FSCN3	127023653	0.006000	0.16342	0.004000	0.12327	0.266000	0.26442	1.638000	0.37165	0.756000	0.33013	0.655000	0.94253	CGA		0.537	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		44	86	0	0	0	0	44	86				
TMEM140	55281	broad.mit.edu	37	7	134849728	134849728	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:134849728G>C	ENST00000275767.3	+	2	758	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	179						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)	5						TGAGAGGGCTGAGAGCAAGCT	0.557																																						uc003vsi.2		NA																	0				large_intestine(1)	1						c.(535-537)GAG>CAG		transmembrane protein 140							46.0	46.0	46.0					7																	134849728		2203	4300	6503	SO:0001583	missense	55281					integral to membrane		g.chr7:134849728G>C	AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.535G>C	7.37:g.134849728G>C	ENSP00000275767:p.Glu179Gln					C7orf49_uc003vsh.2_Intron	p.E179Q	NM_018295	NP_060765	Q9NV12	TM140_HUMAN			2	816	+			179			Cytoplasmic (Potential).		A4D1P9|Q8WUC3	Missense_Mutation	SNP	ENST00000275767.3	37	c.535G>C	CCDS5837.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346626	0.24426	.	.	ENSG00000146859	ENST00000275767;ENST00000456488	T	0.19938	2.11	4.94	-3.63	0.04529	.	1.314310	0.05270	N	0.517307	T	0.09335	0.0230	N	0.08118	0	0.09310	N	1	B	0.22346	0.068	B	0.19391	0.025	T	0.31138	-0.9954	10	0.39692	T	0.17	-0.1144	4.0259	0.09687	0.3343:0.0:0.3774:0.2884	.	179	Q9NV12	TM140_HUMAN	Q	179;142	ENSP00000275767:E179Q	ENSP00000275767:E179Q	E	+	1	0	TMEM140	134500268	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.116000	0.03286	-0.481000	0.06792	-1.252000	0.01501	GAG		0.557	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2	NM_018295		14	30	0	0	0	0	14	30				
KIAA1549	57670	broad.mit.edu	37	7	138603406	138603406	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:138603406G>A	ENST00000422774.1	-	2	1014	c.966C>T	c.(964-966)taC>taT	p.Y322Y	KIAA1549_ENST00000242365.4_Silent_p.Y272Y|KIAA1549_ENST00000440172.1_Silent_p.Y322Y			Q9HCM3	K1549_HUMAN	KIAA1549	322						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCACATCAGTGTATCTGTCTG	0.542			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1		NA		Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	0				central_nervous_system(229)|pancreas(1)	230						c.(964-966)TAC>TAT		hypothetical protein LOC57670 isoform 1							122.0	130.0	128.0					7																	138603406		2077	4209	6286	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138603406G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.966C>T	7.37:g.138603406G>A						KIAA1549_uc003vuk.3_Silent_p.Y272Y|KIAA1549_uc011kqj.1_Silent_p.Y322Y	p.Y322Y	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			2	1015	-			322					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.966C>T	CCDS56513.1																																																																																				0.542	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			36	48	0	0	0	0	36	48				
PDGFRL	5157	broad.mit.edu	37	8	17486079	17486079	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:17486079C>T	ENST00000541323.1	+	5	1034	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	PDGFRL_ENST00000251630.6_Missense_Mutation_p.R197W|PDGFRL_ENST00000398074.3_Missense_Mutation_p.R197W	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	197					G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)	extracellular region (GO:0005576)	platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		GGTTCCTTGTCGGGTGACCGT	0.532																																						uc003wxr.2		NA																	0					0						c.(589-591)CGG>TGG		platelet-derived growth factor receptor-like							116.0	109.0	111.0					8																	17486079		2203	4300	6503	SO:0001583	missense	5157					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity	g.chr8:17486079C>T	D37965	CCDS6003.1	8p22-p21.3	2013-01-29			ENSG00000104213	ENSG00000104213		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8805	protein-coding gene	gene with protein product		604584					Standard	NM_006207		Approved	PRLTS	uc003wxr.3	Q15198	OTTHUMG00000130818	ENST00000541323.1:c.589C>T	8.37:g.17486079C>T	ENSP00000444211:p.Arg197Trp						p.R197W	NM_006207	NP_006198	Q15198	PGFRL_HUMAN		Colorectal(111;0.0752)	4	650	+			197					A8K085|Q6FH04	Missense_Mutation	SNP	ENST00000541323.1	37	c.589C>T	CCDS6003.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211085	0.79240	.	.	ENSG00000104213	ENST00000251630;ENST00000541323;ENST00000398074	T;T;T	0.26518	1.73;1.73;1.73	5.44	3.48	0.39840	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.49949	0.1587	M	0.78801	2.425	0.58432	D	0.999999	D	0.89917	1.0	D	0.74348	0.983	T	0.57057	-0.7876	10	0.72032	D	0.01	-8.2875	13.2253	0.59911	0.4094:0.5905:0.0:0.0	.	197	Q15198	PGFRL_HUMAN	W	197	ENSP00000251630:R197W;ENSP00000444211:R197W;ENSP00000381149:R197W	ENSP00000251630:R197W	R	+	1	2	PDGFRL	17530359	0.996000	0.38824	1.000000	0.80357	0.957000	0.61999	2.325000	0.43840	1.411000	0.46957	0.655000	0.94253	CGG		0.532	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253366.3	NM_006207		34	89	0	0	0	0	34	89				
PIWIL2	55124	broad.mit.edu	37	8	22210625	22210625	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:22210625C>T	ENST00000454009.2	+	21	3066	c.2557C>T	c.(2557-2559)Cag>Tag	p.Q853*	PIWIL2_ENST00000521356.1_Nonsense_Mutation_p.Q853*|PIWIL2_ENST00000356766.6_Nonsense_Mutation_p.Q853*	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	853	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GTTTGTAGTTCAGAAGAAAAT	0.413																																						uc003xbn.2		NA																	0				skin(1)	1						c.(2557-2559)CAG>TAG		piwi-like 2							167.0	169.0	168.0					8																	22210625		2203	4300	6503	SO:0001587	stop_gained	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22210625C>T	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2557C>T	8.37:g.22210625C>T	ENSP00000406956:p.Gln853*					PIWIL2_uc011kzf.1_Nonsense_Mutation_p.Q853*|PIWIL2_uc010ltv.2_Nonsense_Mutation_p.Q853*|PIWIL2_uc003xbo.2_Nonsense_Mutation_p.Q7*	p.Q853*	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	21	2705	+			853			Piwi.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Nonsense_Mutation	SNP	ENST00000454009.2	37	c.2557C>T	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	C	42	9.178031	0.99091	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-29.5187	18.123	0.89578	0.0:1.0:0.0:0.0	.	.	.	.	X	853	.	ENSP00000349208:Q853X	Q	+	1	0	PIWIL2	22266570	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.556000	0.82233	2.575000	0.86900	0.555000	0.69702	CAG		0.413	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			33	68	0	0	0	0	33	68				
BIN3	55909	broad.mit.edu	37	8	22494439	22494439	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:22494439G>A	ENST00000276416.6	-	3	162	c.94C>T	c.(94-96)Cag>Tag	p.Q32*	BIN3_ENST00000519513.1_Intron|BIN3_ENST00000520292.1_Nonsense_Mutation_p.Q32*|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000399977.4_Silent_p.F4F	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	32	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ACTCACTGCTGAAGTTTTCCA	0.547																																						uc003xcl.2		NA																	0					0						c.(94-96)CAG>TAG		bridging integrator 3							92.0	96.0	95.0					8																	22494439		1948	4118	6066	SO:0001587	stop_gained	55909				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity	g.chr8:22494439G>A		CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.94C>T	8.37:g.22494439G>A	ENSP00000276416:p.Gln32*					BIN3_uc003xck.2_Silent_p.F4F|BIN3_uc010ltw.2_Intron	p.Q32*	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	3	191	-		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)	32			BAR.|Potential.		Q9BVG2|Q9NVY9	Nonsense_Mutation	SNP	ENST00000276416.6	37	c.94C>T	CCDS47825.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817500	0.90790	.	.	ENSG00000147439	ENST00000276416;ENST00000520292	.	.	.	5.94	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	13.092	0.59171	0.0776:0.0:0.9224:0.0	.	.	.	.	X	32	.	ENSP00000276416:Q32X	Q	-	1	0	BIN3	22550384	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.381000	0.90152	1.527000	0.49086	0.561000	0.74099	CAG		0.547	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375895.1			10	44	0	0	0	0	10	44				
TNFRSF10B	8795	broad.mit.edu	37	8	22886091	22886091	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:22886091G>T	ENST00000276431.4	-	5	785	c.501C>A	c.(499-501)gtC>gtA	p.V167V	TNFRSF10B_ENST00000542226.1_Silent_p.V16V|TNFRSF10B_ENST00000347739.3_Silent_p.V167V|TNFRSF10B_ENST00000519910.1_5'UTR	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	167					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TACAATCACCGACCTTGACCA	0.562																																					GBM(94;1064 1342 1839 21060 42553)	uc003xcu.2		NA																	0					0						c.(499-501)GTC>GTA		tumor necrosis factor receptor superfamily,							137.0	121.0	126.0					8																	22886091		2203	4300	6503	SO:0001819	synonymous_variant	8795				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding	g.chr8:22886091G>T	AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.501C>A	8.37:g.22886091G>T						TNFRSF10B_uc003xcs.1_5'Flank|TNFRSF10B_uc003xct.2_Silent_p.V167V|TNFRSF10B_uc011kzq.1_Silent_p.V16V|TNFRSF10B_uc003xcv.2_Silent_p.V65V	p.V167V	NM_003842	NP_003833	O14763	TR10B_HUMAN		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)	5	794	-		Prostate(55;0.0421)|Breast(100;0.067)	167			Extracellular (Potential).|TNFR-Cys 3.		O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Silent	SNP	ENST00000276431.4	37	c.501C>A	CCDS6035.1																																																																																				0.562	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187		32	96	1	0	9.78e-24	1.07e-23	32	96				
UNC5D	137970	broad.mit.edu	37	8	35616848	35616848	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:35616848C>G	ENST00000404895.2	+	14	2502	c.2174C>G	c.(2173-2175)tCa>tGa	p.S725*	UNC5D_ENST00000416672.1_Nonsense_Mutation_p.S730*|UNC5D_ENST00000287272.2_Nonsense_Mutation_p.S656*|UNC5D_ENST00000453357.2_Nonsense_Mutation_p.S720*|UNC5D_ENST00000420357.1_Nonsense_Mutation_p.S658*|UNC5D_ENST00000449677.1_Nonsense_Mutation_p.S301*	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	725					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GAAGTGGTTTCAGATGAAAGG	0.378																																						uc003xjr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(2173-2175)TCA>TGA		unc-5 homolog D precursor							115.0	114.0	114.0					8																	35616848		2203	4300	6503	SO:0001587	stop_gained	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35616848C>G	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2174C>G	8.37:g.35616848C>G	ENSP00000385143:p.Ser725*					UNC5D_uc003xjs.1_Nonsense_Mutation_p.S720*|UNC5D_uc003xju.1_Nonsense_Mutation_p.S301*	p.S725*	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	14	2502	+			725			Cytoplasmic (Potential).		Q8WYP7	Nonsense_Mutation	SNP	ENST00000404895.2	37	c.2174C>G	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	36	5.849970	0.97023	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	.	.	.	5.44	5.44	0.79542	.	0.242279	0.43260	D	0.000590	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-9.4489	14.5261	0.67890	0.0:0.9274:0.0:0.0726	.	.	.	.	X	725;658;656;730;720;301	.	ENSP00000287272:S656X	S	+	2	0	UNC5D	35736390	0.910000	0.30920	0.997000	0.53966	0.903000	0.53119	1.885000	0.39678	2.540000	0.85666	0.563000	0.77884	TCA		0.378	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			22	68	0	0	0	0	22	68				
WHSC1L1	54904	broad.mit.edu	37	8	38162181	38162181	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:38162181G>A	ENST00000317025.8	-	14	3052	c.2535C>T	c.(2533-2535)ctC>ctT	p.L845L	WHSC1L1_ENST00000433384.2_Silent_p.L845L|WHSC1L1_ENST00000527502.1_Silent_p.L845L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	845					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TACTACAGATGAGAATGTAGG	0.438			T	NUP98	AML																																	uc003xli.2		NA		Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				breast(1)	1						c.(2533-2535)CTC>CTT		WHSC1L1 protein isoform long							133.0	128.0	130.0					8																	38162181		1916	4134	6050	SO:0001819	synonymous_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38162181G>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2535C>T	8.37:g.38162181G>A						WHSC1L1_uc011lbm.1_Silent_p.L845L|WHSC1L1_uc010lwe.2_Silent_p.L845L	p.L845L	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		14	3053	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	845					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	ENST00000317025.8	37	c.2535C>T	CCDS43729.1																																																																																				0.438	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		17	94	0	0	0	0	17	94				
THAP1	55145	broad.mit.edu	37	8	42693174	42693174	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:42693174G>A	ENST00000254250.3	-	3	803	c.573C>T	c.(571-573)gaC>gaT	p.D191D	THAP1_ENST00000532093.1_5'Flank|THAP1_ENST00000345117.2_3'UTR	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	191					cell cycle (GO:0007049)|endothelial cell proliferation (GO:0001935)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CTGATACGTCGTCTTTCTCTT	0.388																																						uc003xpk.2		NA																	0					0						c.(571-573)GAC>GAT		THAP domain containing, apoptosis associated							115.0	114.0	115.0					8																	42693174		2203	4300	6503	SO:0001819	synonymous_variant	55145				cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding	g.chr8:42693174G>A	BC021721	CCDS6136.1, CCDS6137.1	8p11.1	2013-01-25			ENSG00000131931	ENSG00000131931		"""THAP (C2CH-type zinc finger) domain containing"""	20856	protein-coding gene	gene with protein product		609520	"""dystonia 6, torsion (autosomal dominant)"""	DYT6		12575992, 12717420, 19182804	Standard	NM_018105		Approved	FLJ10477, 4833431A01Rik	uc003xpk.3	Q9NVV9	OTTHUMG00000165276	ENST00000254250.3:c.573C>T	8.37:g.42693174G>A						THAP1_uc003xpl.2_3'UTR	p.D191D	NM_018105	NP_060575	Q9NVV9	THAP1_HUMAN	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)		3	810	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	191					A6NCB6|D3DSY5|H9KV49|Q53FQ1|Q6IA99	Silent	SNP	ENST00000254250.3	37	c.573C>T	CCDS6136.1																																																																																				0.388	THAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383161.1	NM_018105		24	87	0	0	0	0	24	87				
HGSNAT	138050	broad.mit.edu	37	8	43048965	43048965	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:43048965G>A	ENST00000458501.2	+	14	1527	c.1527G>A	c.(1525-1527)gtG>gtA	p.V509V	HGSNAT_ENST00000297798.7_Silent_p.V213V|HGSNAT_ENST00000379644.4_Silent_p.V481V|HGSNAT_ENST00000521576.1_Silent_p.V198V			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	509			V -> L (rare polymorphism; no loss of enzymatic activity). {ECO:0000269|PubMed:19479962}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ACTCCATCGTGATGGCCTTTT	0.403																																						uc003xpx.3		NA																	0					0						c.(1441-1443)GTG>GTA		heparan-alpha-glucosaminide N-acetyltransferase							156.0	156.0	156.0					8																	43048965		1907	4129	6036	SO:0001819	synonymous_variant	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43048965G>A		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1527G>A	8.37:g.43048965G>A							p.V481V	NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		14	1491	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	509		V -> L (does not have any clinical significance; no loss of enzymatic activity).	Helical; (Potential).		B4E2V0	Silent	SNP	ENST00000458501.2	37	c.1443G>A		.	.	.	.	.	.	.	.	.	.	G	9.608	1.130516	0.21041	.	.	ENSG00000165102	ENST00000524016	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	T	0.71796	0.3382	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71031	-0.4710	4	.	.	.	-6.9403	16.0959	0.81123	0.0:0.0:1.0:0.0	.	.	.	.	N	183	.	.	D	+	1	0	HGSNAT	43168122	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.422000	0.44696	2.391000	0.81399	0.650000	0.86243	GAT		0.403	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		24	62	0	0	0	0	24	62				
KIAA1429	25962	broad.mit.edu	37	8	95508622	95508622	+	Silent	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:95508622T>C	ENST00000297591.5	-	18	4392	c.4317A>G	c.(4315-4317)aaA>aaG	p.K1439K	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1439					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K1439fs*18(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTAGAAGCTGTTTTAACTCTG	0.393																																						uc003ygo.1		NA																	1	Deletion - Frameshift(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(4315-4317)AAA>AAG		hypothetical protein LOC25962 isoform 1							135.0	119.0	124.0					8																	95508622		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95508622T>C	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4317A>G	8.37:g.95508622T>C						KIAA1429_uc010maz.1_RNA	p.K1439K	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		18	4330	-	Breast(36;3.29e-05)		1439					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.4317A>G	CCDS34923.1																																																																																				0.393	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		17	35	0	0	0	0	17	35				
TP53INP1	94241	broad.mit.edu	37	8	95942725	95942725	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:95942725C>T	ENST00000342697.4	-	4	1112	c.705G>A	c.(703-705)ccG>ccA	p.P235P	TP53INP1_ENST00000448464.2_3'UTR|TP53INP1_ENST00000378776.4_Silent_p.P180P|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	235					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					TGTACTGACGCGGGCAGGGCT	0.438																																						uc003yhg.2		NA																	0					0						c.(703-705)CCG>CCA		tumor protein p53 inducible nuclear protein 1							141.0	146.0	144.0					8																	95942725		2203	4300	6503	SO:0001819	synonymous_variant	94241				apoptosis	PML body		g.chr8:95942725C>T	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.705G>A	8.37:g.95942725C>T						C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_3'UTR	p.P235P	NM_033285	NP_150601	Q96A56	T53I1_HUMAN			4	1089	-	Breast(36;8.75e-07)		235					B2RCE5|Q969R9	Silent	SNP	ENST00000342697.4	37	c.705G>A	CCDS6265.1																																																																																				0.438	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			53	115	0	0	0	0	53	115				
TSPYL5	85453	broad.mit.edu	37	8	98289207	98289207	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:98289207C>G	ENST00000322128.3	-	1	969	c.866G>C	c.(865-867)aGa>aCa	p.R289T		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	289					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GTAGCCCAATCTGGCAAGGCC	0.473																																						uc003yhy.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(865-867)AGA>ACA		TSPY-like 5							80.0	84.0	82.0					8																	98289207		2203	4300	6503	SO:0001583	missense	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98289207C>G	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.866G>C	8.37:g.98289207C>G	ENSP00000322802:p.Arg289Thr						p.R289T	NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN			1	970	-	Breast(36;2.56e-06)		289					B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	37	c.866G>C	CCDS34927.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965867	0.53507	.	.	ENSG00000180543	ENST00000322128	T	0.25414	1.8	4.4	4.4	0.53042	.	0.000000	0.35677	N	0.003047	T	0.45498	0.1345	M	0.63843	1.955	0.20563	N	0.999888	D	0.62365	0.991	D	0.69654	0.965	T	0.22591	-1.0212	10	0.87932	D	0	-13.339	12.7896	0.57526	0.0:1.0:0.0:0.0	.	289	Q86VY4	TSYL5_HUMAN	T	289	ENSP00000322802:R289T	ENSP00000322802:R289T	R	-	2	0	TSPYL5	98358383	0.513000	0.26194	0.206000	0.23566	0.978000	0.69477	1.407000	0.34657	2.739000	0.93911	0.563000	0.77884	AGA		0.473	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		27	69	0	0	0	0	27	69				
OSR2	116039	broad.mit.edu	37	8	99963753	99963753	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:99963753C>G	ENST00000297565.4	+	4	1259	c.763C>G	c.(763-765)Cca>Gca	p.P255A	OSR2_ENST00000457907.2_Missense_Mutation_p.P376A|OSR2_ENST00000435298.2_Intron|OSR2_ENST00000522510.1_Missense_Mutation_p.P255A	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	255					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			ACAGGAATCTCCACACAAATG	0.428																																						uc003yir.2		NA																	0				central_nervous_system(1)	1						c.(763-765)CCA>GCA		odd-skipped related 2 isoform a							82.0	68.0	73.0					8																	99963753		692	1591	2283	SO:0001583	missense	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99963753C>G	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.763C>G	8.37:g.99963753C>G	ENSP00000297565:p.Pro255Ala					OSR2_uc003yiq.2_Intron|OSR2_uc011lgx.1_Missense_Mutation_p.P376A	p.P255A	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		4	1298	+	Breast(36;4.14e-07)		255					A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Missense_Mutation	SNP	ENST00000297565.4	37	c.763C>G	CCDS47901.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102740	0.76983	.	.	ENSG00000164920	ENST00000297565;ENST00000522510;ENST00000457907	T;T;T	0.20200	2.09;2.09;2.09	5.65	5.65	0.86999	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.911550	0.09223	N	0.831622	T	0.49660	0.1570	M	0.67517	2.055	0.58432	D	0.999999	D;D	0.69078	0.997;0.995	D;P	0.69654	0.965;0.883	T	0.19063	-1.0317	9	.	.	.	-1.3375	19.9142	0.97043	0.0:1.0:0.0:0.0	.	376;255	B4E3B7;Q8N2R0	.;OSR2_HUMAN	A	255;255;376	ENSP00000297565:P255A;ENSP00000430780:P255A;ENSP00000414657:P376A	.	P	+	1	0	OSR2	100032929	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.510000	0.81708	2.941000	0.99782	0.655000	0.94253	CCA		0.428	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		3	7	0	0	0	0	3	7				
VPS13B	157680	broad.mit.edu	37	8	100866028	100866028	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:100866028G>A	ENST00000358544.2	+	56	10597	c.10486G>A	c.(10486-10488)Gaa>Aaa	p.E3496K	VPS13B_ENST00000357162.2_Missense_Mutation_p.E3471K|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3496					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGAGTTGGAAGAATACAAGGA	0.383																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(10486-10488)GAA>AAA		vacuolar protein sorting 13B isoform 5							103.0	104.0	104.0					8																	100866028		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100866028G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10486G>A	8.37:g.100866028G>A	ENSP00000351346:p.Glu3496Lys					VPS13B_uc003yiw.2_Missense_Mutation_p.E3471K	p.E3496K	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		56	10597	+	Breast(36;3.73e-07)		3496					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.10486G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	9.188	1.025214	0.19433	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.68765	-0.35;-0.35	5.67	4.8	0.61643	.	0.547535	0.18801	N	0.130793	T	0.52677	0.1749	L	0.39898	1.24	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.42327	-0.9458	10	0.07030	T	0.85	.	11.2019	0.48747	0.1585:0.0:0.8415:0.0	.	3471;3496	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	K	3471;3496	ENSP00000349685:E3471K;ENSP00000351346:E3496K	ENSP00000349685:E3471K	E	+	1	0	VPS13B	100935204	1.000000	0.71417	0.967000	0.41034	0.723000	0.41478	4.537000	0.60643	1.394000	0.46624	0.650000	0.86243	GAA		0.383	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		23	63	0	0	0	0	23	63				
TBC1D31	93594	broad.mit.edu	37	8	124109599	124109599	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:124109599G>C	ENST00000287380.1	+	6	839	c.749G>C	c.(748-750)aGa>aCa	p.R250T	TBC1D31_ENST00000378080.2_Missense_Mutation_p.R145T|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R145T|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R250T|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R250T|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R145T	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	250						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										CAGCTCTTTAGAATTATCCAG	0.408																																						uc003ypp.1		NA																	0				skin(1)	1						c.(748-750)AGA>ACA		WD repeat domain 67 isoform 1							120.0	107.0	112.0					8																	124109599		2203	4300	6503	SO:0001583	missense	93594					centrosome	Rab GTPase activator activity	g.chr8:124109599G>C	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.749G>C	8.37:g.124109599G>C	ENSP00000287380:p.Arg250Thr					WDR67_uc011lig.1_Missense_Mutation_p.R250T|WDR67_uc011lih.1_Missense_Mutation_p.R140T|WDR67_uc003ypq.1_RNA|WDR67_uc003ypo.1_Missense_Mutation_p.R250T|WDR67_uc003ypr.2_RNA	p.R250T	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		6	839	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		250			WD 4.		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.749G>C	CCDS6338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.143901|4.143901	0.77888|0.77888	.|.	.|.	ENSG00000156787|ENSG00000156787	ENST00000521914|ENST00000287380;ENST00000309336;ENST00000543408;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080;ENST00000522276	.|T;T;T;T;T;T;T	.|0.71103	.|-0.22;1.56;1.56;1.53;1.53;1.53;-0.54	5.73|5.73	5.73|5.73	0.89815|0.89815	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74535|0.74535	0.3729|0.3729	L|L	0.61036|0.61036	1.89|1.89	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;B	.|0.32620	.|0.264;0.378;0.265	.|B;B;B	.|0.38803	.|0.108;0.282;0.155	T|T	0.74127|0.74127	-0.3765|-0.3765	5|10	.|0.56958	.|D	.|0.05	-22.6535|-22.6535	19.8949|19.8949	0.96954|0.96954	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|250;250;250	.|B7ZL19;Q96DN5;Q3KRB0	.|.;WDR67_HUMAN;.	Q|T	54|250;250;129;250;145;145;145;240	.|ENSP00000287380:R250T;ENSP00000308358:R250T;ENSP00000312701:R250T;ENSP00000429334:R145T;ENSP00000430628:R145T;ENSP00000367320:R145T;ENSP00000428891:R240T	.|ENSP00000287380:R250T	E|R	+|+	1|2	0|0	WDR67|WDR67	124178780|124178780	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.944000|0.944000	0.59088|0.59088	7.355000|7.355000	0.79434|0.79434	2.712000|2.712000	0.92718|0.92718	0.484000|0.484000	0.47621|0.47621	GAA|AGA		0.408	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		13	50	0	0	0	0	13	50				
TBC1D31	93594	broad.mit.edu	37	8	124138784	124138784	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:124138784G>C	ENST00000287380.1	+	13	1831	c.1741G>C	c.(1741-1743)Gaa>Caa	p.E581Q	TBC1D31_ENST00000378080.2_Missense_Mutation_p.E476Q|TBC1D31_ENST00000309336.3_Missense_Mutation_p.E581Q|TBC1D31_ENST00000521676.1_Missense_Mutation_p.E458Q|TBC1D31_ENST00000518805.1_Missense_Mutation_p.E214Q|TBC1D31_ENST00000522420.1_Missense_Mutation_p.E476Q|TBC1D31_ENST00000327098.5_Missense_Mutation_p.E581Q	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	581	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TGTGTTCTCAGAAGTGCTGAC	0.368																																						uc003ypp.1		NA																	0				skin(1)	1						c.(1741-1743)GAA>CAA		WD repeat domain 67 isoform 1							120.0	113.0	115.0					8																	124138784		2203	4300	6503	SO:0001583	missense	93594					centrosome	Rab GTPase activator activity	g.chr8:124138784G>C	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1741G>C	8.37:g.124138784G>C	ENSP00000287380:p.Glu581Gln					WDR67_uc011lig.1_Missense_Mutation_p.E581Q|WDR67_uc011lih.1_Missense_Mutation_p.E471Q|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.E294Q|WDR67_uc003ypt.1_Missense_Mutation_p.E38Q|WDR67_uc003ypu.1_Missense_Mutation_p.E38Q	p.E581Q	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		13	1831	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		581			Rab-GAP TBC.		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.1741G>C	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043372	0.75732	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080;ENST00000518805	T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.92	5.92	0.95590	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	M	0.87900	2.915	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.60561	-0.7239	10	0.87932	D	0	-30.484	20.3213	0.98679	0.0:0.0:1.0:0.0	.	581;581;476;581	B7ZL19;Q96DN5-2;E7ERK7;Q96DN5	.;.;.;WDR67_HUMAN	Q	581;581;581;476;458;476;214	ENSP00000287380:E581Q;ENSP00000308358:E581Q;ENSP00000312701:E581Q;ENSP00000429334:E476Q;ENSP00000430628:E458Q;ENSP00000367320:E476Q;ENSP00000429494:E214Q	ENSP00000287380:E581Q	E	+	1	0	WDR67	124207965	1.000000	0.71417	0.999000	0.59377	0.399000	0.30720	9.229000	0.95273	2.810000	0.96702	0.650000	0.86243	GAA		0.368	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		14	28	0	0	0	0	14	28				
FAM91A1	157769	broad.mit.edu	37	8	124810476	124810476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:124810476C>T	ENST00000334705.7	+	16	1804	c.1558C>T	c.(1558-1560)Cag>Tag	p.Q520*	FAM91A1_ENST00000521166.1_Nonsense_Mutation_p.Q520*	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	520										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CTGCACCCCTCAGGTAAAGAC	0.453																																						uc003yqv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1558-1560)CAG>TAG		hypothetical protein LOC157769							50.0	50.0	50.0					8																	124810476		1920	4123	6043	SO:0001587	stop_gained	157769							g.chr8:124810476C>T	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.1558C>T	8.37:g.124810476C>T	ENSP00000335082:p.Gln520*					FAM91A1_uc011lik.1_Nonsense_Mutation_p.Q520*|FAM91A1_uc011lil.1_Nonsense_Mutation_p.Q278*	p.Q520*	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		16	1619	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		520					B6YY23|Q658T5|Q8TE89	Nonsense_Mutation	SNP	ENST00000334705.7	37	c.1558C>T	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	C	40	8.172853	0.98688	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	.	.	.	5.57	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	16.889	0.86082	0.0:0.8718:0.1282:0.0	.	.	.	.	X	520	.	ENSP00000335082:Q520X	Q	+	1	0	FAM91A1	124879657	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.711000	0.84669	1.477000	0.48234	0.544000	0.68410	CAG		0.453	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		17	52	0	0	0	0	17	52				
ZNF572	137209	broad.mit.edu	37	8	125989717	125989717	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:125989717C>T	ENST00000319286.5	+	3	1361	c.1207C>T	c.(1207-1209)Cag>Tag	p.Q403*		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CATTAGACATCAGAGAACACA	0.423										HNSCC(60;0.17)																												uc003yrr.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1207-1209)CAG>TAG		zinc finger protein 572							84.0	81.0	82.0					8																	125989717		2203	4300	6503	SO:0001587	stop_gained	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125989717C>T	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1207C>T	8.37:g.125989717C>T	ENSP00000319305:p.Gln403*	HNSCC(60;0.17)					p.Q403*	NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	1362	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		403			C2H2-type 9.		A1L4F1|Q8N1Q0	Nonsense_Mutation	SNP	ENST00000319286.5	37	c.1207C>T	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	C	34	5.307516	0.95629	.	.	ENSG00000180938	ENST00000319286	.	.	.	5.17	5.17	0.71159	.	0.000000	0.46758	D	0.000272	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-10.982	16.2176	0.82239	0.0:1.0:0.0:0.0	.	.	.	.	X	403	.	ENSP00000319305:Q403X	Q	+	1	0	ZNF572	126058898	0.915000	0.31059	1.000000	0.80357	0.731000	0.41821	0.796000	0.26986	2.692000	0.91855	0.655000	0.94253	CAG		0.423	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		10	56	0	0	0	0	10	56				
FAM135B	51059	broad.mit.edu	37	8	139164359	139164359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:139164359C>T	ENST00000395297.1	-	13	2529	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	787								p.D787Y(2)|p.D787N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGCTTGGTGTCCGCATCTTCA	0.522										HNSCC(54;0.14)																												uc003yuy.2		NA																	4	Substitution - Missense(4)		breast(2)|kidney(2)	ovary(7)|skin(2)	9						c.(2359-2361)GAC>AAC		hypothetical protein LOC51059							48.0	48.0	48.0					8																	139164359		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164359C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2359G>A	8.37:g.139164359C>T	ENSP00000378710:p.Asp787Asn	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.D688N|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.D349N|FAM135B_uc003yvb.2_Missense_Mutation_p.D349N	p.D787N	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2530	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		787					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2359G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620096	0.46736	.	.	ENSG00000147724	ENST00000395297	T	0.15372	2.43	5.43	5.43	0.79202	.	0.751873	0.13391	N	0.391387	T	0.27524	0.0676	L	0.34521	1.04	0.09310	N	1	D;D;P	0.57257	0.979;0.979;0.455	P;P;B	0.56563	0.801;0.714;0.193	T	0.12192	-1.0557	10	0.38643	T	0.18	-7.1553	16.4153	0.83731	0.0:1.0:0.0:0.0	.	787;787;787	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	N	787	ENSP00000378710:D787N	ENSP00000276737:D787N	D	-	1	0	FAM135B	139233541	0.031000	0.19500	0.005000	0.12908	0.001000	0.01503	2.627000	0.46469	2.557000	0.86248	0.655000	0.94253	GAC		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		8	55	0	0	0	0	8	55				
FAM135B	51059	broad.mit.edu	37	8	139164976	139164976	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:139164976G>C	ENST00000395297.1	-	13	1912	c.1742C>G	c.(1741-1743)tCt>tGt	p.S581C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	581										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTTATCTCTAGAGCTCCTACT	0.478										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(1741-1743)TCT>TGT		hypothetical protein LOC51059							147.0	140.0	142.0					8																	139164976		1901	4120	6021	SO:0001583	missense	51059							g.chr8:139164976G>C	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1742C>G	8.37:g.139164976G>C	ENSP00000378710:p.Ser581Cys	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.S482C|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.S143C|FAM135B_uc003yvb.2_Missense_Mutation_p.S143C	p.S581C	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1913	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		581					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1742C>G	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	7.078	0.569633	0.13560	.	.	ENSG00000147724	ENST00000395297	T	0.14266	2.52	5.45	2.44	0.29823	.	0.932777	0.09198	N	0.835023	T	0.15392	0.0371	M	0.62723	1.935	0.09310	N	1	B;B;B	0.17667	0.023;0.023;0.001	B;B;B	0.18871	0.023;0.01;0.002	T	0.32745	-0.9895	10	0.32370	T	0.25	0.0292	7.1459	0.25583	0.1646:0.2722:0.5632:0.0	.	581;581;581	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	C	581	ENSP00000378710:S581C	ENSP00000276737:S581C	S	-	2	0	FAM135B	139234158	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.534000	0.23098	0.267000	0.21916	0.655000	0.94253	TCT		0.478	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		34	95	0	0	0	0	34	95				
CYP11B1	1584	broad.mit.edu	37	8	143961152	143961152	+	Silent	SNP	C	C	G	rs147788769		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:143961152C>G	ENST00000292427.4	-	1	110	c.78G>C	c.(76-78)acG>acC	p.T26T	CYP11B1_ENST00000377675.3_Silent_p.T26T|CYP11B1_ENST00000517471.1_Silent_p.T26T	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	26					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GGGCGGCTCTCGTGCCCAGTG	0.652									Familial Hyperaldosteronism type I																													uc003yxi.2		NA																	0				ovary(3)	3						c.(76-78)ACG>ACC		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						79.0	78.0	79.0					8																	143961152		2203	4300	6503	SO:0001819	synonymous_variant	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143961152C>G	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.78G>C	8.37:g.143961152C>G						CYP11B1_uc003yxj.2_Silent_p.T26T|CYP11B1_uc010mey.2_Silent_p.T26T	p.T26T	NM_000497	NP_000488	P15538	C11B1_HUMAN			1	85	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		26					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	c.78G>C	CCDS6392.1																																																																																				0.652	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			20	77	0	0	0	0	20	77				
EPPK1	83481	broad.mit.edu	37	8	144943311	144943311	+	Missense_Mutation	SNP	C	C	T	rs376905444		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:144943311C>T	ENST00000525985.1	-	2	4182	c.4111G>A	c.(4111-4113)Ggg>Agg	p.G1371R				P58107	EPIPL_HUMAN	epiplakin 1	1371						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGTGCACCCCGTGGACAGGG	0.637																																						uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(4111-4113)GGG>AGG		epiplakin 1		C	ARG/GLY	1,4085		0,1,2042	14.0	17.0	16.0		4111	0.7	0.1	8		16	0,8388		0,0,4194	no	missense	EPPK1	NM_031308.1	125	0,1,6236	TT,TC,CC		0.0,0.0245,0.0080	benign	1371/2420	144943311	1,12473	2043	4194	6237	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144943311C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4111G>A	8.37:g.144943311C>T	ENSP00000436337:p.Gly1371Arg						p.G1371R	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	4124	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1371			Plectin 24.		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.4111G>A		.	.	.	.	.	.	.	.	.	.	C	11.46	1.644159	0.29246	2.45E-4	0.0	ENSG00000227184	ENST00000525985	T	0.79141	-1.24	4.66	0.718	0.18202	.	.	.	.	.	T	0.66177	0.2763	L	0.52011	1.625	0.19575	N	0.999965	B	0.22211	0.066	B	0.20184	0.028	T	0.49031	-0.8981	9	0.20519	T	0.43	.	5.0332	0.14421	0.0:0.3467:0.2385:0.4149	.	1371	E9PPU0	.	R	1371	ENSP00000436337:G1371R	ENSP00000436337:G1371R	G	-	1	0	EPPK1	145015299	0.002000	0.14202	0.080000	0.20451	0.716000	0.41182	0.756000	0.26419	-0.041000	0.13558	-0.140000	0.14226	GGG		0.637	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		8	31	0	0	0	0	8	31				
PLEC	5339	broad.mit.edu	37	8	144991749	144991749	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:144991749C>T	ENST00000322810.4	-	32	12820	c.12651G>A	c.(12649-12651)ctG>ctA	p.L4217L	PLEC_ENST00000354589.3_Silent_p.L4080L|PLEC_ENST00000345136.3_Silent_p.L4080L|PLEC_ENST00000436759.2_Silent_p.L4107L|PLEC_ENST00000527096.1_Silent_p.L4103L|PLEC_ENST00000398774.2_Silent_p.L4048L|PLEC_ENST00000357649.2_Silent_p.L4084L|PLEC_ENST00000354958.2_Silent_p.L4058L|PLEC_ENST00000356346.3_Silent_p.L4066L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4217	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGGGGTCGGTCAGGATCTCGT	0.617																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(12649-12651)CTG>CTA		plectin isoform 1							63.0	68.0	66.0					8																	144991749		2079	4211	6290	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144991749C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12651G>A	8.37:g.144991749C>T						PLEC_uc003zab.1_Silent_p.L4080L|PLEC_uc003zac.1_Silent_p.L4084L|PLEC_uc003zad.2_Silent_p.L4080L|PLEC_uc003zae.1_Silent_p.L4048L|PLEC_uc003zag.1_Silent_p.L4058L|PLEC_uc003zah.2_Silent_p.L4066L|PLEC_uc003zaj.2_Silent_p.L4107L	p.L4217L	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	12821	-			4217			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.12651G>A	CCDS43772.1																																																																																				0.617	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		12	45	0	0	0	0	12	45				
PLEC	5339	broad.mit.edu	37	8	144998102	144998102	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:144998102C>G	ENST00000322810.4	-	31	6575	c.6406G>C	c.(6406-6408)Gag>Cag	p.E2136Q	PLEC_ENST00000354589.3_Missense_Mutation_p.E1999Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E1999Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2026Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E2022Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E1967Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2003Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E1977Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E1985Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2136	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGTGCGGCCTCCTCCTCGGCC	0.746																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(6406-6408)GAG>CAG		plectin isoform 1							6.0	8.0	8.0					8																	144998102		1867	3931	5798	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144998102C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6406G>C	8.37:g.144998102C>G	ENSP00000323856:p.Glu2136Gln					PLEC_uc003zab.1_Missense_Mutation_p.E1999Q|PLEC_uc003zac.1_Missense_Mutation_p.E2003Q|PLEC_uc003zad.2_Missense_Mutation_p.E1999Q|PLEC_uc003zae.1_Missense_Mutation_p.E1967Q|PLEC_uc003zag.1_Missense_Mutation_p.E1977Q|PLEC_uc003zah.2_Missense_Mutation_p.E1985Q|PLEC_uc003zaj.2_Missense_Mutation_p.E2026Q	p.E2136Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	6576	-			2136			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.6406G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	8.373	0.835699	0.16820	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.83250	-1.54;-1.54;-1.64;-1.57;-1.67;-1.55;-1.6;-1.7;-1.6	3.79	2.91	0.33838	.	0.167321	0.36628	U	0.002491	T	0.77585	0.4152	M	0.65498	2.005	0.39665	D	0.970667	P;P;P;B;P;P;P;P	0.35908	0.527;0.527;0.527;0.392;0.527;0.527;0.527;0.527	B;B;B;B;B;B;B;B	0.30316	0.114;0.114;0.114;0.053;0.114;0.114;0.114;0.114	T	0.76002	-0.3118	10	0.36615	T	0.2	.	11.2657	0.49110	0.0:0.9067:0.0:0.0933	.	2026;1985;1977;2136;1967;1999;2003;1999	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	1999;2003;1999;1967;2136;1977;1985;2026;2022	ENSP00000344848:E1999Q;ENSP00000350277:E2003Q;ENSP00000346602:E1999Q;ENSP00000381756:E1967Q;ENSP00000323856:E2136Q;ENSP00000347044:E1977Q;ENSP00000348702:E1985Q;ENSP00000388180:E2026Q;ENSP00000434583:E2022Q	ENSP00000323856:E2136Q	E	-	1	0	PLEC	145070090	1.000000	0.71417	0.897000	0.35233	0.048000	0.14542	4.479000	0.60236	0.938000	0.37419	0.448000	0.29417	GAG		0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	21	0	0	0	0	3	21				
PLEC	5339	broad.mit.edu	37	8	145007122	145007122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:145007122G>A	ENST00000322810.4	-	14	2156	c.1987C>T	c.(1987-1989)Cag>Tag	p.Q663*	PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q526*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q526*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q553*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q549*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q494*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q530*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q504*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q512*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	663	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCAGGTCCTGCAGGTAGCGC	0.697																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(1987-1989)CAG>TAG		plectin isoform 1							22.0	26.0	25.0					8																	145007122		2042	4197	6239	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145007122G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1987C>T	8.37:g.145007122G>A	ENSP00000323856:p.Gln663*					PLEC_uc003zab.1_Nonsense_Mutation_p.Q526*|PLEC_uc003zac.1_Nonsense_Mutation_p.Q530*|PLEC_uc003zad.2_Nonsense_Mutation_p.Q526*|PLEC_uc003zae.1_Nonsense_Mutation_p.Q494*|PLEC_uc003zag.1_Nonsense_Mutation_p.Q504*|PLEC_uc003zah.2_Nonsense_Mutation_p.Q512*|PLEC_uc003zaj.2_Nonsense_Mutation_p.Q553*	p.Q663*	NM_201380	NP_958782	Q15149	PLEC_HUMAN			14	2157	-			663			Spectrin 1.|Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.1987C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	38	6.941774	0.97952	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	.	.	.	5.12	5.12	0.69794	.	0.297161	0.26463	U	0.024237	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	17.3215	0.87238	0.0:0.0:1.0:0.0	.	.	.	.	X	526;530;526;494;663;504;512;553;549;570	.	ENSP00000323856:Q663X	Q	-	1	0	PLEC	145079110	1.000000	0.71417	1.000000	0.80357	0.326000	0.28443	6.855000	0.75445	2.390000	0.81377	0.643000	0.83706	CAG		0.697	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		6	29	0	0	0	0	6	29				
ARHGAP39	80728	broad.mit.edu	37	8	145771162	145771162	+	Missense_Mutation	SNP	C	C	G	rs149131924		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:145771162C>G	ENST00000276826.5	-	5	2193	c.1992G>C	c.(1990-1992)gaG>gaC	p.E664D	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E664D|ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E664D			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	664					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCCGGCTGCTCTCGAACTGGG	0.677																																						uc003zdt.1		NA																	0					0						c.(1990-1992)GAG>GAC		KIAA1688 protein		C	ASP/GLU	1,4401		0,1,2200	18.0	17.0	17.0		1992	4.3	1.0	8	dbSNP_134	17	0,8588		0,0,4294	no	missense	ARHGAP39	NM_025251.1	45	0,1,6494	GG,GC,CC		0.0,0.0227,0.0077	possibly-damaging	664/1115	145771162	1,12989	2201	4294	6495	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145771162C>G		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1992G>C	8.37:g.145771162C>G	ENSP00000276826:p.Glu664Asp					ARHGAP39_uc011llk.1_Missense_Mutation_p.E664D|ARHGAP39_uc003zds.1_Missense_Mutation_p.E664D	p.E664D	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			7	2547	-			664					B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.1992G>C		.	.	.	.	.	.	.	.	.	.	C	13.76	2.332366	0.41297	2.27E-4	0.0	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.70045	-0.45;-0.21;-0.45	5.17	4.29	0.51040	.	0.499991	0.20918	N	0.083328	T	0.59500	0.2198	L	0.39020	1.185	0.28173	N	0.928491	P;P	0.48294	0.769;0.908	B;P	0.45913	0.197;0.497	T	0.53380	-0.8447	10	0.31617	T	0.26	-3.3523	11.4471	0.50129	0.0:0.9115:0.0:0.0885	.	664;664	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	D	664	ENSP00000276826:E664D;ENSP00000366522:E664D;ENSP00000445075:E664D	ENSP00000276826:E664D	E	-	3	2	ARHGAP39	145741970	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.510000	0.45468	1.186000	0.42985	-0.142000	0.14014	GAG		0.677	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			6	20	0	0	0	0	6	20				
FOXD4	2298	broad.mit.edu	37	9	117879	117879	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:117879C>G	ENST00000382500.2	-	1	538	c.241G>C	c.(241-243)Gag>Cag	p.E81Q		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	81					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GTGCCAAACTCTGAGGGGTCG	0.711																																						uc003zfz.2		NA																	0				skin(1)	1						c.(241-243)GAG>CAG		forkhead box D4							37.0	62.0	53.0					9																	117879		2194	4292	6486	SO:0001583	missense	2298				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.chr9:117879C>G	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.241G>C	9.37:g.117879C>G	ENSP00000371940:p.Glu81Gln						p.E81Q	NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	539	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	81					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	c.241G>C	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	10.16	1.273321	0.23221	.	.	ENSG00000170122	ENST00000382500	D	0.94862	-3.54	2.31	0.122	0.14702	.	.	.	.	.	D	0.86851	0.6032	N	0.24115	0.695	0.09310	N	1	B	0.18863	0.031	B	0.14023	0.01	T	0.73310	-0.4023	9	0.23891	T	0.37	.	5.9707	0.19351	0.3671:0.4525:0.1804:0.0	.	81	Q12950	FOXD4_HUMAN	Q	81	ENSP00000371940:E81Q	ENSP00000371940:E81Q	E	-	1	0	FOXD4	107879	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.935000	0.03950	-0.109000	0.12044	0.291000	0.19559	GAG		0.711	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		14	246	0	0	0	0	14	246				
PTPRD	5789	broad.mit.edu	37	9	8524994	8524994	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:8524994T>C	ENST00000381196.4	-	15	1153	c.610A>G	c.(610-612)Aaa>Gaa	p.K204E	PTPRD_ENST00000356435.5_Missense_Mutation_p.K204E|PTPRD_ENST00000355233.5_Missense_Mutation_p.K204E|PTPRD_ENST00000486161.1_Missense_Mutation_p.K204E|PTPRD_ENST00000397617.3_Missense_Mutation_p.K198E|PTPRD_ENST00000537002.1_Missense_Mutation_p.K201E|PTPRD_ENST00000358503.5_Missense_Mutation_p.K195E|PTPRD_ENST00000397611.3_Missense_Mutation_p.K201E|PTPRD_ENST00000360074.4_Missense_Mutation_p.K195E|PTPRD_ENST00000397606.3_Missense_Mutation_p.K198E|PTPRD_ENST00000540109.1_Missense_Mutation_p.K204E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	204	Ig-like C2-type 2.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACTCATATTTTCCTTGGTCA	0.458										TSP Lung(15;0.13)																												uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(610-612)AAA>GAA		protein tyrosine phosphatase, receptor type, D							167.0	168.0	168.0					9																	8524994		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8524994T>C	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.610A>G	9.37:g.8524994T>C	ENSP00000370593:p.Lys204Glu	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.K204E|PTPRD_uc003zkq.2_Missense_Mutation_p.K204E|PTPRD_uc003zkr.2_Missense_Mutation_p.K198E|PTPRD_uc003zks.2_Missense_Mutation_p.K198E|PTPRD_uc003zkl.2_Missense_Mutation_p.K204E|PTPRD_uc003zkm.2_Missense_Mutation_p.K195E|PTPRD_uc003zkn.2_Missense_Mutation_p.K204E|PTPRD_uc003zko.2_Missense_Mutation_p.K201E	p.K204E	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	17	1321	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	204			Extracellular (Potential).|Ig-like C2-type 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.610A>G	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	T	17.18	3.324706	0.60634	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.86	5.86	0.93980	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72867	0.3514	L	0.28649	0.875	0.80722	D	1	D;D;D;D;D;D;B;D;D	0.89917	0.999;0.999;0.995;1.0;0.997;0.999;0.0;0.997;0.997	D;D;P;D;P;D;B;P;D	0.77557	0.99;0.99;0.903;0.99;0.856;0.987;0.0;0.864;0.99	T	0.71477	-0.4581	9	.	.	.	.	16.2404	0.82405	0.0:0.0:0.0:1.0	.	198;198;204;204;201;201;195;204;204	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	E	204;204;195;195;204;198;201;201;204;204;204;198	ENSP00000370593:K204E;ENSP00000348812:K204E;ENSP00000353187:K195E;ENSP00000351293:K195E;ENSP00000347373:K204E;ENSP00000380741:K198E;ENSP00000380735:K201E;ENSP00000440515:K201E;ENSP00000438164:K204E;ENSP00000417093:K204E;ENSP00000380731:K198E	.	K	-	1	0	PTPRD	8514994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.988000	0.88194	2.225000	0.72522	0.533000	0.62120	AAA		0.458	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			49	135	0	0	0	0	49	135				
TOPORS	10210	broad.mit.edu	37	9	32542604	32542604	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:32542604C>T	ENST00000360538.2	-	3	2035	c.1919G>A	c.(1918-1920)aGa>aAa	p.R640K	TOPORS_ENST00000379858.1_Missense_Mutation_p.R575K	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	640	Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TTTGTCTCTTCTCCCTCTAGG	0.423																																						uc003zrb.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1918-1920)AGA>AAA		topoisomerase I binding, arginine/serine-rich							389.0	365.0	373.0					9																	32542604		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32542604C>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1919G>A	9.37:g.32542604C>T	ENSP00000353735:p.Arg640Lys					TOPORS_uc003zrc.2_Missense_Mutation_p.R573K	p.R640K	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2086	-			640			Arg-rich.|Interaction with TOP1.|Interaction with SUMO1.|Interaction with p53/TP53.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.1919G>A	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.414040	0.25465	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.14144	2.54;2.53	6.16	5.26	0.73747	.	0.000000	0.56097	D	0.000035	T	0.08179	0.0204	N	0.14661	0.345	0.27646	N	0.94755	B	0.17852	0.024	B	0.17433	0.018	T	0.23013	-1.0200	10	0.23302	T	0.38	-19.5515	10.6896	0.45862	0.0:0.8639:0.0:0.1361	.	640	Q9NS56	TOPRS_HUMAN	K	640;575	ENSP00000353735:R640K;ENSP00000369187:R575K	ENSP00000353735:R640K	R	-	2	0	TOPORS	32532604	1.000000	0.71417	0.992000	0.48379	0.846000	0.48090	1.237000	0.32695	2.937000	0.99478	0.650000	0.86243	AGA		0.423	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		80	236	0	0	0	0	80	236				
PRSS3	5646	broad.mit.edu	37	9	33796723	33796723	+	Silent	SNP	G	G	A	rs372921409		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:33796723G>A	ENST00000361005.5	+	2	294	c.294G>A	c.(292-294)ctG>ctA	p.L98L	PRSS3_ENST00000342836.4_Silent_p.L55L|PRSS3_ENST00000379405.3_Silent_p.L41L|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Silent_p.L34L	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	98	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			AGGTGTCCCTGAATTCTGGCT	0.547																																						uc003ztj.3		NA																	0					0						c.(292-294)CTG>CTA		mesotrypsin isoform 1 preproprotein		G	,,,	0,4406		0,0,2203	142.0	146.0	145.0		165,102,123,294	3.2	1.0	9		145	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRSS3	NM_001197097.2,NM_001197098.1,NM_002771.3,NM_007343.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	55/262,34/241,41/248,98/305	33796723	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5646				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	g.chr9:33796723G>A		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.294G>A	9.37:g.33796723G>A						uc003ztk.1_Intron|PRSS3_uc003zti.3_Silent_p.L55L|PRSS3_uc003ztl.3_Silent_p.L41L	p.L98L	NM_007343	NP_031369	P35030	TRY3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)		2	294	+			98			Peptidase S1.		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	ENST00000361005.5	37	c.294G>A	CCDS47958.1																																																																																				0.547	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		7	178	0	0	0	0	7	178				
SPATA31A6	389730	broad.mit.edu	37	9	43627818	43627818	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:43627818G>A	ENST00000332857.6	-	4	897	c.869C>T	c.(868-870)tCg>tTg	p.S290L	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	290					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AAAGGCGCACGAGGTTCTGGC	0.552																																						uc011lrb.1		NA																	0					0						c.(868-870)TCG>TTG		hypothetical protein LOC389730							2.0	2.0	2.0					9																	43627818		482	1253	1735	SO:0001583	missense	389730					integral to membrane		g.chr9:43627818G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.869C>T	9.37:g.43627818G>A	ENSP00000329825:p.Ser290Leu						p.S290L	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	898	-			290						Missense_Mutation	SNP	ENST00000332857.6	37	c.869C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	0.311	-0.967798	0.02232	.	.	ENSG00000185775	ENST00000332857	T	0.04194	3.68	1.85	-3.05	0.05396	.	1.482540	0.04341	N	0.354043	T	0.01765	0.0056	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43925	-0.9361	10	0.40728	T	0.16	0.6186	3.331	0.07084	0.3649:0.2964:0.3387:0.0	.	290	Q5VVP1	F75A6_HUMAN	L	290	ENSP00000329825:S290L	ENSP00000329825:S290L	S	-	2	0	FAM75A6	43567814	0.000000	0.05858	0.004000	0.12327	0.015000	0.08874	-1.305000	0.02738	-0.745000	0.04772	-0.566000	0.04163	TCG		0.552	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		83	82	0	0	0	0	83	82				
PRUNE2	158471	broad.mit.edu	37	9	79244121	79244121	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:79244121C>T	ENST00000376718.3	-	16	9259	c.9136G>A	c.(9136-9138)Gag>Aag	p.E3046K	PRUNE2_ENST00000223609.6_Missense_Mutation_p.E311K|PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000428286.1_Missense_Mutation_p.E2688K|PRUNE2_ENST00000443509.2_Missense_Mutation_p.E295K	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	3046	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATGATGCTCTCTGGAATGTGG	0.388																																						uc010mpk.2		NA																	0					0						c.(9136-9138)GAG>AAG		prune homolog 2							90.0	80.0	83.0					9																	79244121		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79244121C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.9136G>A	9.37:g.79244121C>T	ENSP00000365908:p.Glu3046Lys					PRUNE2_uc011lsk.1_Missense_Mutation_p.E295K|PRUNE2_uc011lsl.1_Missense_Mutation_p.E310K|PRUNE2_uc011lsm.1_Missense_Mutation_p.E311K|PRUNE2_uc004akj.3_Missense_Mutation_p.E500K	p.E3046K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			16	9260	-			3046			CRAL-TRIO.		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.9136G>A	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.697795|4.697795	0.88830|0.88830	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376717;ENST00000376718;ENST00000428286;ENST00000441554;ENST00000443509;ENST00000424866;ENST00000223609;ENST00000422033|ENST00000426088	T;T;T;T;T;T|.	0.57107|.	0.78;0.75;0.74;0.8;0.42;0.79|.	5.53|5.53	5.53|5.53	0.82687|0.82687	Cellular retinaldehyde-binding/triple function, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76485|0.76485	0.3994|0.3994	M|M	0.69823|0.69823	2.125|2.125	0.53688|0.53688	D|D	0.99997|0.99997	P;P;P;D|.	0.76494|.	0.776;0.57;0.549;0.999|.	P;B;B;D|.	0.70487|.	0.677;0.444;0.272;0.969|.	T|T	0.74380|0.74380	-0.3684|-0.3684	10|5	0.37606|.	T|.	0.19|.	-23.5164|-23.5164	19.8407|19.8407	0.96681|0.96681	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	311;310;295;3046|.	B4DSQ3;Q8WUY3-5;B4DJW7;Q8WUY3|.	.;.;.;PRUN2_HUMAN|.	K|K	311;3046;2688;267;295;219;311;3049|2370	ENSP00000365907:E311K;ENSP00000365908:E3046K;ENSP00000397425:E2688K;ENSP00000393843:E295K;ENSP00000393657:E219K;ENSP00000223609:E311K|.	ENSP00000223609:E311K|.	E|R	-|-	1|2	0|0	PRUNE2|PRUNE2	78433941|78433941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.958000|2.958000	0.49145|0.49145	2.763000|2.763000	0.94921|0.94921	0.563000|0.563000	0.77884|0.77884	GAG|AGA		0.388	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		4	14	0	0	0	0	4	14				
UBQLN1	29979	broad.mit.edu	37	9	86276731	86276731	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:86276731C>T	ENST00000376395.4	-	11	2264	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	UBQLN1_ENST00000257468.7_Missense_Mutation_p.E553K	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	581	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						AGTAACCTTTCAATAGCTGCA	0.383																																					Melanoma(186;1284 2073 12755 14558 18426)	uc004amv.2		NA																	0					0						c.(1741-1743)GAA>AAA		ubiquilin 1 isoform 1							154.0	140.0	145.0					9																	86276731		2203	4300	6503	SO:0001583	missense	29979				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	g.chr9:86276731C>T	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.1741G>A	9.37:g.86276731C>T	ENSP00000365576:p.Glu581Lys					UBQLN1_uc004amw.2_Missense_Mutation_p.E553K	p.E581K	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN			11	2315	-			581			UBA.		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	c.1741G>A	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764405	0.69878	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	T;T	0.27104	1.69;1.69	5.29	4.4	0.53042	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.000000	0.64402	D	0.000001	T	0.53626	0.1808	M	0.83118	2.625	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.76071	0.969;0.987	T	0.61446	-0.7061	10	0.66056	D	0.02	.	14.4492	0.67372	0.0:0.929:0.0:0.071	.	553;581	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	K	581;553	ENSP00000365576:E581K;ENSP00000257468:E553K	ENSP00000257468:E553K	E	-	1	0	UBQLN1	85466551	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.463000	0.80869	1.377000	0.46286	0.650000	0.86243	GAA		0.383	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		24	69	0	0	0	0	24	69				
KIF27	55582	broad.mit.edu	37	9	86518439	86518439	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:86518439G>C	ENST00000297814.2	-	4	1137	c.994C>G	c.(994-996)Ctc>Gtc	p.L332V	KIF27_ENST00000334204.2_Missense_Mutation_p.L332V|KIF27_ENST00000413982.1_Missense_Mutation_p.L332V	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	332	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GCATATTTGAGAGAATTTAAG	0.433																																						uc004ana.2		NA																	0				lung(4)|skin(1)	5						c.(994-996)CTC>GTC		kinesin family member 27							91.0	92.0	92.0					9																	86518439		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86518439G>C	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.994C>G	9.37:g.86518439G>C	ENSP00000297814:p.Leu332Val					KIF27_uc010mpw.2_Missense_Mutation_p.L332V|KIF27_uc010mpx.2_Missense_Mutation_p.L332V	p.L332V	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN			4	1138	-			332					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.994C>G	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885848	0.72410	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	D;D;D	0.85861	-2.04;-2.04;-2.04	5.56	5.56	0.83823	Kinesin, motor domain (3);	0.000000	0.50627	D	0.000101	D	0.94056	0.8095	H	0.96301	3.8	0.43628	D	0.996018	D;D;D	0.76494	0.996;0.999;0.97	P;P;P	0.60473	0.764;0.875;0.686	D	0.95523	0.8596	10	0.87932	D	0	.	15.1809	0.72956	0.0:0.0:0.8585:0.1415	.	332;332;332	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	V	332	ENSP00000297814:L332V;ENSP00000401688:L332V;ENSP00000333928:L332V	ENSP00000297814:L332V	L	-	1	0	KIF27	85708259	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.733000	0.74796	2.629000	0.89072	0.655000	0.94253	CTC		0.433	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		22	80	0	0	0	0	22	80				
BICD2	23299	broad.mit.edu	37	9	95481630	95481630	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:95481630C>G	ENST00000375512.3	-	5	1364	c.1297G>C	c.(1297-1299)Gag>Cag	p.E433Q	BICD2_ENST00000356884.6_Missense_Mutation_p.E433Q	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	433					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCCAAGATCTCAGGCCCGTTG	0.637																																						uc004aso.1		NA																	0				skin(1)	1						c.(1297-1299)GAG>CAG		bicaudal D homolog 2 isoform 2							133.0	106.0	115.0					9																	95481630		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95481630C>G	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1297G>C	9.37:g.95481630C>G	ENSP00000364662:p.Glu433Gln					BICD2_uc004asp.1_Missense_Mutation_p.E433Q	p.E433Q	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN			5	1354	-			433			Potential.		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1297G>C	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210557	0.79240	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.56103	0.48;0.48	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.72309	0.3444	M	0.75777	2.31	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.72839	-0.4171	10	0.46703	T	0.11	-34.2257	16.6104	0.84881	0.0:1.0:0.0:0.0	.	433;433	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	Q	433	ENSP00000349351:E433Q;ENSP00000364662:E433Q	ENSP00000349351:E433Q	E	-	1	0	BICD2	94521451	1.000000	0.71417	0.979000	0.43373	0.821000	0.46438	7.714000	0.84703	2.605000	0.88082	0.561000	0.74099	GAG		0.637	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		6	56	0	0	0	0	6	56				
CCDC180	100499483	broad.mit.edu	37	9	100056386	100056386	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:100056386G>A	ENST00000357054.1	+	13	1179	c.244G>A	c.(244-246)Gac>Aac	p.D82N	RP11-23J9.5_ENST00000375204.2_RNA|CCDC180_ENST00000375202.2_5'UTR|CCDC180_ENST00000411667.2_5'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375205.2_Missense_Mutation_p.D122N|CCDC180_ENST00000395220.1_Missense_Mutation_p.D82N			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	82						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGAGGGAGCAGACATGGGTAA	0.607																																						uc011lut.1		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(244-246)GAC>AAC		hypothetical protein LOC57653							72.0	65.0	67.0					9																	100056386		2203	4300	6503	SO:0001583	missense	57653							g.chr9:100056386G>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.244G>A	9.37:g.100056386G>A	ENSP00000349562:p.Asp82Asn					KIAA1529_uc011lur.1_RNA|KIAA1529_uc004axe.1_Missense_Mutation_p.D82N|KIAA1529_uc011lus.1_Intron|KIAA1529_uc010msm.1_RNA	p.D82N	NM_020893	NP_065944					11	1017	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.244G>A		.	.	.	.	.	.	.	.	.	.	G	26.7	4.766457	0.90020	.	.	ENSG00000197816	ENST00000375205;ENST00000357054;ENST00000395220	D;D;D	0.90844	-2.74;-2.74;-2.74	5.64	5.64	0.86602	.	.	.	.	.	D	0.95392	0.8504	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	D	0.95484	0.8563	8	0.87932	D	0	.	17.579	0.87960	0.0:0.0:1.0:0.0	.	82;82	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	N	122;82;82	ENSP00000364351:D122N;ENSP00000349562:D82N;ENSP00000378646:D82N	ENSP00000349562:D82N	D	+	1	0	C9orf174	99096207	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.097000	0.89539	2.832000	0.97577	0.655000	0.94253	GAC		0.607	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		21	50	0	0	0	0	21	50				
SVEP1	79987	broad.mit.edu	37	9	113169862	113169862	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:113169862G>A	ENST00000401783.2	-	38	8354	c.8018C>T	c.(8017-8019)tCa>tTa	p.S2673L	SVEP1_ENST00000374469.1_Missense_Mutation_p.S2650L|SVEP1_ENST00000297826.5_Missense_Mutation_p.S599L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2673	Sushi 21. {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						CAGAAAGTTTGATGAATGTGT	0.443																																						uc010mtz.2		NA																	0				ovary(7)	7						c.(8017-8019)TCA>TTA		polydom							185.0	182.0	183.0					9																	113169862		1890	4122	6012	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113169862G>A	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.8018C>T	9.37:g.113169862G>A	ENSP00000384917:p.Ser2673Leu					SVEP1_uc010mty.2_Missense_Mutation_p.S599L	p.S2673L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			38	8355	-			2673			Sushi 21.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.8018C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	8.054	0.766733	0.15983	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.65178	-0.14;-0.14;-0.14	5.55	5.55	0.83447	Complement control module (2);Sushi/SCR/CCP (3);	0.612003	0.17849	N	0.159938	T	0.62648	0.2445	L	0.58302	1.8	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.56992	-0.7887	10	0.40728	T	0.16	.	19.4902	0.95047	0.0:0.0:1.0:0.0	.	2673	Q4LDE5	SVEP1_HUMAN	L	2673;2650;599;345	ENSP00000384917:S2673L;ENSP00000363593:S2650L;ENSP00000297826:S599L	ENSP00000297826:S599L	S	-	2	0	SVEP1	112209683	0.844000	0.29557	0.008000	0.14137	0.112000	0.19704	5.036000	0.64164	2.610000	0.88304	0.585000	0.79938	TCA		0.443	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				55	167	0	0	0	0	55	167				
WDR31	114987	broad.mit.edu	37	9	116083793	116083793	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:116083793G>A	ENST00000374193.4	-	8	882	c.636C>T	c.(634-636)ctC>ctT	p.L212L	WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Silent_p.L211L|WDR31_ENST00000374195.3_Silent_p.L87L	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	212										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						AAGCCCACCTGAGGGTTTTAT	0.478																																						uc004bhe.2		NA																	0					0						c.(634-636)CTC>CTT		WD repeat domain 31 isoform 1							112.0	114.0	113.0					9																	116083793		2203	4300	6503	SO:0001819	synonymous_variant	114987							g.chr9:116083793G>A	BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"""WD repeat domain containing"""	21421	protein-coding gene	gene with protein product	"""similar to spermatid WD-repeat protein"""						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.636C>T	9.37:g.116083793G>A						WDR31_uc004bhc.2_Silent_p.L211L|WDR31_uc004bhd.2_Silent_p.L87L|WDR31_uc004bhf.2_RNA	p.L212L	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN			8	888	-			212			WD 4.		Q5W0T9|Q96EG8	Silent	SNP	ENST00000374193.4	37	c.636C>T	CCDS35110.1																																																																																				0.478	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	NM_145241		13	26	0	0	0	0	13	26				
HDHD3	81932	broad.mit.edu	37	9	116136231	116136231	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:116136231G>C	ENST00000238379.5	-	2	1301	c.404C>G	c.(403-405)tCc>tGc	p.S135C	HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Missense_Mutation_p.S135C	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	135						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			large_intestine(2)|liver(1)	3						GTCAAAGTTGGAGATCACTGC	0.622																																						uc004bhi.1		NA																	0					0						c.(403-405)TCC>TGC		haloacid dehalogenase-like hydrolase domain							136.0	142.0	140.0					9																	116136231		2203	4300	6503	SO:0001583	missense	81932						phosphoglycolate phosphatase activity|protein binding	g.chr9:116136231G>C	AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 158"""	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.404C>G	9.37:g.116136231G>C	ENSP00000238379:p.Ser135Cys					HDHD3_uc004bhj.2_Missense_Mutation_p.S135C|HDHD3_uc004bhk.2_Missense_Mutation_p.S135C	p.S135C	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN			2	1188	-			135					B2RD47	Missense_Mutation	SNP	ENST00000238379.5	37	c.404C>G	CCDS6793.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172422	0.78452	.	.	ENSG00000119431	ENST00000238379;ENST00000374180	T;T	0.58940	0.3;0.3	5.86	5.86	0.93980	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.84156	0.5410	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88150	0.2850	10	0.87932	D	0	-23.5924	19.1654	0.93555	0.0:0.0:1.0:0.0	.	135	Q9BSH5	HDHD3_HUMAN	C	135	ENSP00000238379:S135C;ENSP00000363295:S135C	ENSP00000238379:S135C	S	-	2	0	HDHD3	115176052	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	8.758000	0.91663	2.778000	0.95560	0.655000	0.94253	TCC		0.622	HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053731.1	NM_031219		43	137	0	0	0	0	43	137				
OR1L3	26735	broad.mit.edu	37	9	125438072	125438072	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:125438072C>T	ENST00000304820.2	+	1	758	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TCTAAGAATTCTCATCGCTGT	0.468																																						uc011lzb.1		NA																	0				skin(1)	1						c.(664-666)CTC>TTC		olfactory receptor, family 1, subfamily L,							117.0	110.0	112.0					9																	125438072		2203	4300	6503	SO:0001583	missense	26735				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125438072C>T		CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"""GPCR / Class A : Olfactory receptors"""	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.664C>T	9.37:g.125438072C>T	ENSP00000302863:p.Leu222Phe						p.L222F	NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN			1	664	+			222			Cytoplasmic (Potential).		B2RNF4|Q6IFN1	Missense_Mutation	SNP	ENST00000304820.2	37	c.664C>T	CCDS35128.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.535244	0.00145	.	.	ENSG00000171481	ENST00000304820	T	0.00123	8.7	4.49	-0.975	0.10289	GPCR, rhodopsin-like superfamily (1);	0.269718	0.20323	U	0.094589	T	0.00109	0.0003	L	0.38953	1.18	0.09310	N	1	B	0.24368	0.102	B	0.33339	0.162	T	0.31888	-0.9927	10	0.16896	T	0.51	-5.4183	0.1952	0.00139	0.2544:0.2881:0.1919:0.2656	.	222	Q8NH93	OR1L3_HUMAN	F	222	ENSP00000302863:L222F	ENSP00000302863:L222F	L	+	1	0	OR1L3	124477893	0.000000	0.05858	0.043000	0.18650	0.014000	0.08584	-1.713000	0.01883	0.002000	0.14630	0.650000	0.86243	CTC		0.468	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053950.1			23	72	0	0	0	0	23	72				
GAPVD1	26130	broad.mit.edu	37	9	128086134	128086134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:128086134C>T	ENST00000495955.1	+	11	2080	c.1790C>T	c.(1789-1791)tCa>tTa	p.S597L	GAPVD1_ENST00000470056.1_Missense_Mutation_p.S597L|GAPVD1_ENST00000394104.2_Missense_Mutation_p.S597L|GAPVD1_ENST00000394083.2_Missense_Mutation_p.S576L|GAPVD1_ENST00000297933.6_Missense_Mutation_p.S597L|GAPVD1_ENST00000394105.2_Missense_Mutation_p.S597L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.S576L|GAPVD1_ENST00000265956.4_Missense_Mutation_p.S597L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	597					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GAGTCTGTGTCAGAACTTGGA	0.428																																						uc010mwx.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1789-1791)TCA>TTA		GTPase activating protein and VPS9 domains 1							120.0	101.0	107.0					9																	128086134		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128086134C>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.1790C>T	9.37:g.128086134C>T	ENSP00000419063:p.Ser597Leu					GAPVD1_uc011lzs.1_Missense_Mutation_p.S597L|GAPVD1_uc004bpp.2_Missense_Mutation_p.S597L|GAPVD1_uc004bpq.2_Missense_Mutation_p.S597L|GAPVD1_uc004bpr.2_Missense_Mutation_p.S576L|GAPVD1_uc004bps.2_Missense_Mutation_p.S597L|GAPVD1_uc010mwy.1_Missense_Mutation_p.S456L	p.S597L	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN			11	2116	+			597					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.1790C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.8|29.8	5.040938|5.040938	0.93685|0.93685	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000431329|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.|T;T;T;T;T;T;T;T;T	.|0.15017	.|2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.31918	.|0.0812	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.63046	.|0.981;0.967;0.981;0.981;0.981;0.992	.|D;D;D;D;D;D	.|0.71656	.|0.962;0.916;0.943;0.943;0.943;0.974	.|T	.|0.07347	.|-1.0777	.|10	.|0.87932	.|D	.|0	.|.	16.9822|16.9822	0.86331|0.86331	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|597;597;597;576;597;597	.|Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	.|.;GAPD1_HUMAN;.;.;.;.	X|L	460|597;597;597;597;576;597;597;597;576	.|ENSP00000419767:S597L;ENSP00000377665:S597L;ENSP00000377664:S597L;ENSP00000265956:S597L;ENSP00000377645:S576L;ENSP00000419063:S597L;ENSP00000418747:S597L;ENSP00000297933:S597L;ENSP00000309582:S576L	.|ENSP00000265956:S597L	Q|S	+|+	1|2	0|0	GAPVD1|GAPVD1	127125955|127125955	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.990000|0.990000	0.78478|0.78478	7.412000|7.412000	0.80091|0.80091	2.270000|2.270000	0.75569|0.75569	0.484000|0.484000	0.47621|0.47621	CAG|TCA		0.428	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			11	53	0	0	0	0	11	53				
FUBP3	8939	broad.mit.edu	37	9	133507625	133507625	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:133507625C>A	ENST00000319725.9	+	16	1545	c.1470C>A	c.(1468-1470)agC>agA	p.S490R		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	490					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GCTGGGGCAGCACCTACCAGG	0.622																																						uc004bzr.1		NA																	0				ovary(1)	1						c.(1468-1470)AGC>AGA		far upstream element (FUSE) binding protein 3							46.0	50.0	48.0					9																	133507625		2040	4184	6224	SO:0001583	missense	8939				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding	g.chr9:133507625C>A	U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.1470C>A	9.37:g.133507625C>A	ENSP00000318177:p.Ser490Arg					FUBP3_uc004bzs.1_Missense_Mutation_p.S403R	p.S490R	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000279)	16	1578	+			490					A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	ENST00000319725.9	37	c.1470C>A	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475529	0.43942	.	.	ENSG00000107164	ENST00000319725	T	0.44482	0.92	4.54	3.62	0.41486	.	0.180730	0.48767	D	0.000180	T	0.25754	0.0627	L	0.27053	0.805	0.80722	D	1	B;B	0.18166	0.026;0.026	B;B	0.12837	0.008;0.008	T	0.06807	-1.0806	10	0.22109	T	0.4	-8.393	8.144	0.31100	0.0:0.8234:0.0:0.1766	.	490;490	A3KFK8;Q96I24	.;FUBP3_HUMAN	R	490	ENSP00000318177:S490R	ENSP00000318177:S490R	S	+	3	2	FUBP3	132497446	0.990000	0.36364	1.000000	0.80357	0.997000	0.91878	0.238000	0.18004	2.229000	0.72834	0.561000	0.74099	AGC		0.622	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1			12	32	1	0	4.38e-07	4.65e-07	12	32				
RALGDS	5900	broad.mit.edu	37	9	135982483	135982483	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:135982483C>T	ENST00000372050.3	-	7	1423	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	RALGDS_ENST00000372062.3_Missense_Mutation_p.E439K|RALGDS_ENST00000393157.3_Missense_Mutation_p.E467K|RALGDS_ENST00000372047.3_Missense_Mutation_p.E456K|RALGDS_ENST00000393160.3_Missense_Mutation_p.E413K|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.E539K	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	468	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CTGGCCACCTCGATCCAGTGC	0.622			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	uc004cco.2		NA		Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		PMBL|Hodgkin Lymphona|		0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1402-1404)GAG>AAG		ral guanine nucleotide dissociation stimulator							69.0	65.0	66.0					9																	135982483		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135982483C>T	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1402G>A	9.37:g.135982483C>T	ENSP00000361120:p.Glu468Lys					RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.E456K|RALGDS_uc004ccr.2_Missense_Mutation_p.E467K|RALGDS_uc011mcv.1_Missense_Mutation_p.E439K|RALGDS_uc004ccs.2_Missense_Mutation_p.E413K|RALGDS_uc011mcw.1_Missense_Mutation_p.E539K|RALGDS_uc004ccv.1_Missense_Mutation_p.E237K|RALGDS_uc004ccu.1_Missense_Mutation_p.E237K	p.E468K	NM_006266	NP_006257	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	7	1422	-			468			Ras-GEF.		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.1402G>A	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.421109	0.62622	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72	5.39	4.48	0.54585	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.284912	0.33895	N	0.004448	T	0.24353	0.0590	N	0.12422	0.21	0.48236	D	0.999616	D;P;D;D;B;D;D;P	0.67145	0.996;0.513;0.969;0.979;0.126;0.974;0.995;0.642	P;B;P;P;B;P;P;B	0.54499	0.658;0.112;0.56;0.701;0.022;0.593;0.754;0.169	T	0.04537	-1.0944	10	0.22706	T	0.39	.	15.2894	0.73854	0.0:0.8595:0.1405:0.0	.	539;439;468;456;413;467;456;468	F5H6M6;E7ER93;Q12967-2;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;.;GNDS_HUMAN	K	468;456;413;467;539;439	ENSP00000361120:E468K;ENSP00000361117:E456K;ENSP00000376867:E413K;ENSP00000376864:E467K;ENSP00000437518:E539K;ENSP00000361132:E439K	ENSP00000361117:E456K	E	-	1	0	RALGDS	134972304	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.840000	0.62817	1.252000	0.44001	0.655000	0.94253	GAG		0.622	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		12	57	0	0	0	0	12	57				
RALGDS	5900	broad.mit.edu	37	9	135985044	135985044	+	Missense_Mutation	SNP	C	C	T	rs367807822		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:135985044C>T	ENST00000372050.3	-	4	574	c.553G>A	c.(553-555)Gag>Aag	p.E185K	RALGDS_ENST00000372062.3_Missense_Mutation_p.E156K|RALGDS_ENST00000393157.3_Missense_Mutation_p.E184K|RALGDS_ENST00000372047.3_Missense_Mutation_p.E173K|RALGDS_ENST00000393160.3_Missense_Mutation_p.E130K|RALGDS_ENST00000469972.1_5'Flank|RALGDS_ENST00000542690.1_Missense_Mutation_p.E256K	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	185	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CCACCATCCTCGTCGGAATAG	0.557			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	uc004cco.2		NA		Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		PMBL|Hodgkin Lymphona|		0				large_intestine(1)|lung(1)|ovary(1)	3						c.(553-555)GAG>AAG		ral guanine nucleotide dissociation stimulator		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	161.0	134.0	143.0		553,388	1.7	0.0	9		143	0,8600		0,0,4300	no	missense,missense	RALGDS	NM_006266.2,NM_001042368.1	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	185/915,130/860	135985044	1,13005	2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135985044C>T	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.553G>A	9.37:g.135985044C>T	ENSP00000361120:p.Glu185Lys					RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.E173K|RALGDS_uc004ccr.2_Missense_Mutation_p.E184K|RALGDS_uc011mcv.1_Missense_Mutation_p.E156K|RALGDS_uc004ccs.2_Missense_Mutation_p.E130K|RALGDS_uc011mcw.1_Missense_Mutation_p.E256K|RALGDS_uc004ccv.1_5'Flank|RALGDS_uc004ccu.1_5'Flank	p.E185K	NM_006266	NP_006257	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	4	573	-			185			N-terminal Ras-GEF.		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.553G>A	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695990	0.30052	2.27E-4	0.0	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.50548	0.8;0.74;0.8;0.8;0.8;0.74	4.86	1.71	0.24356	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	1.255340	0.05414	N	0.542966	T	0.58090	0.2098	M	0.64260	1.97	0.09310	N	1	D;B;B;B;B;B	0.58970	0.984;0.448;0.448;0.448;0.448;0.448	P;B;B;B;B;B	0.55087	0.768;0.146;0.146;0.146;0.146;0.146	T	0.38265	-0.9669	10	0.59425	D	0.04	.	6.7014	0.23227	0.0:0.5594:0.3381:0.1025	.	256;156;130;184;173;185	F5H6M6;E7ER93;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;GNDS_HUMAN	K	185;173;130;184;256;156	ENSP00000361120:E185K;ENSP00000361117:E173K;ENSP00000376867:E130K;ENSP00000376864:E184K;ENSP00000437518:E256K;ENSP00000361132:E156K	ENSP00000361117:E173K	E	-	1	0	RALGDS	134974865	0.559000	0.26562	0.001000	0.08648	0.411000	0.31082	0.732000	0.26072	0.228000	0.21019	0.563000	0.77884	GAG		0.557	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		18	61	0	0	0	0	18	61				
SARDH	1757	broad.mit.edu	37	9	136596561	136596561	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:136596561C>G	ENST00000371872.4	-	4	813	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	SARDH_ENST00000422262.2_Missense_Mutation_p.E18Q|SARDH_ENST00000298628.5_Missense_Mutation_p.E186Q|SARDH_ENST00000439388.1_Missense_Mutation_p.E186Q|SARDH_ENST00000371867.1_Missense_Mutation_p.E97Q	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	186					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTCTTGGTCTCTGCCGGGCTC	0.627																																						uc004cep.3		NA																	0					0						c.(556-558)GAG>CAG		sarcosine dehydrogenase precursor							131.0	120.0	123.0					9																	136596561		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136596561C>G		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.556G>C	9.37:g.136596561C>G	ENSP00000360938:p.Glu186Gln					SARDH_uc004ceo.2_Missense_Mutation_p.E186Q|SARDH_uc011mdn.1_Missense_Mutation_p.E186Q|SARDH_uc011mdo.1_Missense_Mutation_p.E18Q	p.E186Q	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	4	690	-			186					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.556G>C	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495405	0.64186	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86	4.97	4.97	0.65823	FAD dependent oxidoreductase (1);	0.106561	0.64402	D	0.000006	D	0.87672	0.6236	M	0.67700	2.07	0.42862	D	0.994114	P	0.37083	0.581	P	0.47941	0.562	D	0.86433	0.1762	10	0.33940	T	0.23	-41.4989	13.9523	0.64126	0.0:0.726:0.274:0.0	.	186	Q9UL12	SARDH_HUMAN	Q	186;186;18;186;186;186;97;164;186	ENSP00000360938:E186Q;ENSP00000403084:E186Q;ENSP00000415537:E18Q;ENSP00000360933:E97Q;ENSP00000298628:E186Q	ENSP00000298628:E186Q	E	-	1	0	SARDH	135586382	0.996000	0.38824	0.929000	0.37066	0.740000	0.42216	3.281000	0.51685	2.280000	0.76307	0.563000	0.77884	GAG		0.627	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			7	71	0	0	0	0	7	71				
PMPCA	23203	broad.mit.edu	37	9	139309033	139309033	+	Missense_Mutation	SNP	G	G	C	rs543713243	byFrequency	TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139309033G>C	ENST00000371717.3	+	5	475	c.466G>C	c.(466-468)Gat>Cat	p.D156H	PMPCA_ENST00000371720.1_Intron|PMPCA_ENST00000399219.3_Intron	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	156					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGTGTCTGCTGATAGCAAAGG	0.572																																						uc004chl.2		NA																	0					0						c.(466-468)GAT>CAT		peptidase (mitochondrial processing) alpha							169.0	152.0	158.0					9																	139309033		2203	4300	6503	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139309033G>C	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.466G>C	9.37:g.139309033G>C	ENSP00000360782:p.Asp156His					PMPCA_uc011mdy.1_Missense_Mutation_p.D156H|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_Missense_Mutation_p.D56H|PMPCA_uc011mdz.1_Intron|PMPCA_uc004chm.1_5'Flank	p.D156H	NM_015160	NP_055975	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	5	471	+		Myeloproliferative disorder(178;0.0821)	156					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.466G>C	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145305	0.57044	.	.	ENSG00000165688	ENST00000371717	T	0.42131	0.98	5.53	5.53	0.82687	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.097405	0.64402	D	0.000001	T	0.39064	0.1064	L	0.47190	1.495	0.80722	D	1	B;B;B	0.26318	0.146;0.097;0.097	B;B;B	0.27715	0.06;0.082;0.082	T	0.17048	-1.0382	10	0.15499	T	0.54	.	18.4525	0.90709	0.0:0.0:1.0:0.0	.	156;156;156	B4DRK5;Q5SXM9;Q10713	.;.;MPPA_HUMAN	H	156	ENSP00000360782:D156H	ENSP00000360782:D156H	D	+	1	0	PMPCA	138428854	1.000000	0.71417	0.952000	0.39060	0.992000	0.81027	9.425000	0.97467	2.578000	0.87016	0.650000	0.86243	GAT		0.572	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		6	94	0	0	0	0	6	94				
MAMDC4	158056	broad.mit.edu	37	9	139749723	139749723	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139749723G>A	ENST00000317446.2	+	11	1265	c.1215G>A	c.(1213-1215)caG>caA	p.Q405Q	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Silent_p.Q405Q	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TGGCCGGGCAGACAGGCCCGG	0.672																																						uc004cjs.2		NA																	0				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7						c.(1213-1215)CAG>CAA		apical early endosomal glycoprotein precursor							25.0	34.0	31.0					9																	139749723		2192	4299	6491	SO:0001819	synonymous_variant	158056				protein transport	integral to membrane		g.chr9:139749723G>A	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.1215G>A	9.37:g.139749723G>A						MAMDC4_uc011mej.1_Intron	p.Q405Q	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	11	1265	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	405			MAM 2.|Extracellular (Potential).			Silent	SNP	ENST00000317446.2	37	c.1215G>A	CCDS7010.1	.	.	.	.	.	.	.	.	.	.	.	1.678	-0.507170	0.04231	.	.	ENSG00000177943	ENST00000413647	.	.	.	4.76	-2.69	0.06022	.	.	.	.	.	T	0.30885	0.0779	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.36817	-0.9732	4	.	.	.	-5.5474	8.5621	0.33516	0.1567:0.4806:0.3626:0.0	.	.	.	.	N	387	.	.	D	+	1	0	MAMDC4	138869544	0.000000	0.05858	0.012000	0.15200	0.318000	0.28184	-0.244000	0.08903	-0.189000	0.10482	0.561000	0.74099	GAC		0.672	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		21	22	0	0	0	0	21	22				
ABCA2	20	broad.mit.edu	37	9	139909920	139909920	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139909920C>T	ENST00000371605.3	-	23	3787	c.3640G>A	c.(3640-3642)Gac>Aac	p.D1214N	ABCA2_ENST00000341511.6_Missense_Mutation_p.D1215N|ABCA2_ENST00000265662.5_Missense_Mutation_p.D1215N|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1214	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGTACCCGTCGCCATAGGTG	0.662																																						uc011mem.1		NA																	0					0						c.(3640-3642)GAC>AAC		ATP-binding cassette, sub-family A, member 2							22.0	24.0	23.0					9																	139909920		2156	4278	6434	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139909920C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.3640G>A	9.37:g.139909920C>T	ENSP00000360666:p.Asp1214Asn					ABCA2_uc011mel.1_Missense_Mutation_p.D1215N|ABCA2_uc004ckl.1_Missense_Mutation_p.D1145N|ABCA2_uc004ckm.1_Missense_Mutation_p.D1245N|ABCA2_uc004ckn.1_RNA	p.D1214N	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	23	3788	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1214			ABC transporter 1.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.3640G>A		.	.	.	.	.	.	.	.	.	.	C	13.21	2.168383	0.38315	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	T;T;T	0.62639	0.01;0.01;0.01	3.94	3.94	0.45596	ABC transporter-like (1);	0.000000	0.85682	U	0.000000	T	0.61652	0.2364	N	0.20881	0.62	0.51482	D	0.99992	D;P	0.76494	0.999;0.809	P;B	0.57009	0.811;0.09	T	0.63514	-0.6620	10	0.38643	T	0.18	.	15.7362	0.77846	0.0:1.0:0.0:0.0	.	1214;1245	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	N	1215;1214;1245;1215	ENSP00000265662:D1215N;ENSP00000360666:D1214N;ENSP00000344155:D1215N	ENSP00000265662:D1215N	D	-	1	0	ABCA2	139029741	0.999000	0.42202	0.189000	0.23252	0.502000	0.33828	4.580000	0.60942	2.034000	0.60081	0.313000	0.20887	GAC		0.662	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		3	10	0	0	0	0	3	10				
ABCA2	20	broad.mit.edu	37	9	139910481	139910481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139910481C>T	ENST00000371605.3	-	21	3394	c.3247G>A	c.(3247-3249)Gaa>Aaa	p.E1083K	ABCA2_ENST00000341511.6_Missense_Mutation_p.E1084K|ABCA2_ENST00000265662.5_Missense_Mutation_p.E1084K|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1083	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAGAGGTGTTCCTCCACCGTG	0.622																																						uc011mem.1		NA																	0					0						c.(3247-3249)GAA>AAA		ATP-binding cassette, sub-family A, member 2							69.0	71.0	70.0					9																	139910481		2054	4189	6243	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139910481C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.3247G>A	9.37:g.139910481C>T	ENSP00000360666:p.Glu1083Lys					ABCA2_uc011mel.1_Missense_Mutation_p.E1084K|ABCA2_uc004ckl.1_Missense_Mutation_p.E1014K|ABCA2_uc004ckm.1_Missense_Mutation_p.E1114K|ABCA2_uc004ckn.1_RNA	p.E1083K	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	21	3395	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1083			ABC transporter 1.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.3247G>A		.	.	.	.	.	.	.	.	.	.	C	22.1	4.248791	0.80024	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.99881	-7.47;-7.47;-7.47	4.2	4.2	0.49525	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	U	0.000000	D	0.99896	0.9950	M	0.90759	3.145	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.81914	0.983;0.995	D	0.95845	0.8869	10	0.87932	D	0	.	16.5127	0.84290	0.0:1.0:0.0:0.0	.	1083;1114	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	K	1084;1083;1114;1084	ENSP00000265662:E1084K;ENSP00000360666:E1083K;ENSP00000344155:E1084K	ENSP00000265662:E1084K	E	-	1	0	ABCA2	139030302	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	7.617000	0.83032	1.880000	0.54463	0.313000	0.20887	GAA		0.622	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		23	35	0	0	0	0	23	35				
ABCA2	20	broad.mit.edu	37	9	139910547	139910547	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139910547C>T	ENST00000371605.3	-	21	3328	c.3181G>A	c.(3181-3183)Gag>Aag	p.E1061K	ABCA2_ENST00000341511.6_Missense_Mutation_p.E1062K|ABCA2_ENST00000265662.5_Missense_Mutation_p.E1062K|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1061	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTGCGGATCTCATCCATCTCC	0.612																																						uc011mem.1		NA																	0					0						c.(3181-3183)GAG>AAG		ATP-binding cassette, sub-family A, member 2							96.0	102.0	100.0					9																	139910547		2141	4246	6387	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139910547C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.3181G>A	9.37:g.139910547C>T	ENSP00000360666:p.Glu1061Lys					ABCA2_uc011mel.1_Missense_Mutation_p.E1062K|ABCA2_uc004ckl.1_Missense_Mutation_p.E992K|ABCA2_uc004ckm.1_Missense_Mutation_p.E1092K|ABCA2_uc004ckn.1_RNA	p.E1061K	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	21	3329	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1061			ABC transporter 1.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.3181G>A		.	.	.	.	.	.	.	.	.	.	c	11.43	1.637902	0.29157	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.93659	-3.26;-3.26;-3.26	4.19	4.19	0.49359	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.132327	0.50627	U	0.000102	D	0.85336	0.5673	N	0.16790	0.44	0.37623	D	0.921368	B;B	0.14012	0.008;0.009	B;B	0.16289	0.015;0.01	T	0.81143	-0.1067	10	0.13470	T	0.59	.	12.1162	0.53866	0.0:0.9119:0.0:0.0881	.	1061;1092	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	K	1062;1061;1092;1062	ENSP00000265662:E1062K;ENSP00000360666:E1061K;ENSP00000344155:E1062K	ENSP00000265662:E1062K	E	-	1	0	ABCA2	139030368	0.995000	0.38212	0.993000	0.49108	0.678000	0.39670	1.653000	0.37323	1.876000	0.54355	0.306000	0.20318	GAG		0.612	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		31	63	0	0	0	0	31	63				
ABCA2	20	broad.mit.edu	37	9	139913234	139913234	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139913234C>T	ENST00000371605.3	-	12	1900	c.1753G>A	c.(1753-1755)Gag>Aag	p.E585K	ABCA2_ENST00000341511.6_Missense_Mutation_p.E586K|ABCA2_ENST00000265662.5_Missense_Mutation_p.E586K|ABCA2_ENST00000492260.1_5'UTR			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	585					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ATGCTCTCCTCGTCGTGGAAG	0.652																																						uc011mem.1		NA																	0					0						c.(1753-1755)GAG>AAG		ATP-binding cassette, sub-family A, member 2							59.0	65.0	63.0					9																	139913234		2045	4180	6225	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139913234C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1753G>A	9.37:g.139913234C>T	ENSP00000360666:p.Glu585Lys					ABCA2_uc011mel.1_Missense_Mutation_p.E586K|ABCA2_uc004ckl.1_Missense_Mutation_p.E516K|ABCA2_uc004ckm.1_Missense_Mutation_p.E616K|ABCA2_uc004ckn.1_5'Flank|ABCA2_uc004cko.1_Missense_Mutation_p.E362K	p.E585K	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	12	1901	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	585					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.1753G>A		.	.	.	.	.	.	.	.	.	.	c	34	5.304442	0.95601	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.89617	-2.54;-2.54;-2.54	4.31	4.31	0.51392	.	0.414029	0.22945	U	0.053740	D	0.93789	0.8014	M	0.69823	2.125	0.58432	D	0.999999	D;D	0.89917	1.0;0.98	D;P	0.75484	0.986;0.696	D	0.94697	0.7879	10	0.87932	D	0	.	16.7672	0.85527	0.0:1.0:0.0:0.0	.	585;616	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	K	586;585;616;586	ENSP00000265662:E586K;ENSP00000360666:E585K;ENSP00000344155:E586K	ENSP00000265662:E586K	E	-	1	0	ABCA2	139033055	1.000000	0.71417	0.876000	0.34364	0.554000	0.35429	7.415000	0.80131	1.941000	0.56285	0.486000	0.48141	GAG		0.652	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		17	51	0	0	0	0	17	51				
BMX	660	broad.mit.edu	37	X	15560113	15560113	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:15560113G>T	ENST00000357607.2	+	15	1591	c.1403G>T	c.(1402-1404)aGc>aTc	p.S468I	BMX_ENST00000342014.6_Missense_Mutation_p.S468I|BMX_ENST00000348343.6_Missense_Mutation_p.S468I			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	468	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AGGAAACTCAGCCATCCCAAG	0.373																																						uc004cww.2		NA																	0				lung(3)|ovary(2)	5						c.(1402-1404)AGC>ATC		BMX non-receptor tyrosine kinase							109.0	103.0	105.0					X																	15560113		2203	4299	6502	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15560113G>T	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1403G>T	X.37:g.15560113G>T	ENSP00000350224:p.Ser468Ile					BMX_uc004cwx.3_Missense_Mutation_p.S468I|BMX_uc004cwy.3_Missense_Mutation_p.S468I	p.S468I	NM_203281	NP_975010	P51813	BMX_HUMAN			15	1591	+	Hepatocellular(33;0.183)		468			Protein kinase.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.1403G>T	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489767	0.44249	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.89875	-2.58;-2.58;-2.58	4.84	-1.42	0.08913	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.257299	0.33875	N	0.004475	D	0.82637	0.5080	L	0.52206	1.635	0.09310	N	1	P	0.46706	0.883	B	0.41946	0.371	T	0.76170	-0.3057	10	0.87932	D	0	.	7.056	0.25099	0.5773:0.1246:0.2982:0.0	.	468	P51813	BMX_HUMAN	I	468	ENSP00000350224:S468I;ENSP00000308774:S468I;ENSP00000340082:S468I	ENSP00000340082:S468I	S	+	2	0	BMX	15470034	0.003000	0.15002	0.941000	0.38009	0.890000	0.51754	0.404000	0.20999	-0.353000	0.08224	-0.197000	0.12766	AGC		0.373	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		35	46	1	0	2.49e-23	2.72e-23	35	46				
DMD	1756	broad.mit.edu	37	X	32398771	32398771	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:32398771C>A	ENST00000357033.4	-	34	4907	c.4701G>T	c.(4699-4701)gaG>gaT	p.E1567D	DMD_ENST00000378677.2_Missense_Mutation_p.E1563D	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1567	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAAGCATTTCTCCAACTGTT	0.338																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(4699-4701)GAG>GAT		dystrophin Dp427m isoform							115.0	103.0	107.0					X																	32398771		2201	4300	6501	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32398771C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4701G>T	X.37:g.32398771C>A	ENSP00000354923:p.Glu1567Asp					DMD_uc004dcw.2_Missense_Mutation_p.E223D|DMD_uc004dcx.2_Missense_Mutation_p.E226D|DMD_uc004dcz.2_Missense_Mutation_p.E1444D|DMD_uc004dcy.1_Missense_Mutation_p.E1563D|DMD_uc004ddb.1_Missense_Mutation_p.E1559D|DMD_uc010ngo.1_Intron	p.E1567D	NM_004006	NP_003997	P11532	DMD_HUMAN			34	4945	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1567			Spectrin 10.|Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4701G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	c	18.55	3.649323	0.67358	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.39406	1.08;1.08	5.36	2.41	0.29592	.	0.000000	0.33732	U	0.004604	T	0.57917	0.2086	M	0.72479	2.2	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.997;0.993;0.993	D;D;D;D;D	0.80764	0.99;0.994;0.978;0.967;0.967	T	0.54689	-0.8256	10	0.72032	D	0.01	.	7.6939	0.28583	0.0:0.6187:0.0:0.3813	.	1559;1567;1563;226;223	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	D	1559;226;223;1563;1567;1567;1444	ENSP00000367948:E1563D;ENSP00000354923:E1567D	ENSP00000354923:E1567D	E	-	3	2	DMD	32308692	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	1.771000	0.38542	0.055000	0.16094	0.534000	0.68092	GAG		0.338	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		23	17	1	0	1.28e-07	1.36e-07	23	17				
USP9X	8239	broad.mit.edu	37	X	41000592	41000592	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:41000592G>A	ENST00000324545.8	+	9	1702	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	USP9X_ENST00000378308.2_Missense_Mutation_p.E357K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	357					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGCACTGAATGAAGTTAATAA	0.348																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NA																	0				lung(3)|breast(2)|ovary(1)	6						c.(1069-1071)GAA>AAA		ubiquitin specific protease 9, X-linked isoform							84.0	76.0	79.0					X																	41000592		2152	4276	6428	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41000592G>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1069G>A	X.37:g.41000592G>A	ENSP00000316357:p.Glu357Lys					USP9X_uc004dfc.2_Missense_Mutation_p.E357K	p.E357K	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			9	1702	+			357					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.1069G>A	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925699	0.92319	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.66099	-0.19;-0.19	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82792	-0.0282	10	0.59425	D	0.04	.	18.992	0.92796	0.0:0.0:1.0:0.0	.	357;357	Q93008-1;Q93008	.;USP9X_HUMAN	K	357	ENSP00000367558:E357K;ENSP00000316357:E357K	ENSP00000316357:E357K	E	+	1	0	USP9X	40885536	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.476000	0.97823	2.433000	0.82419	0.600000	0.82982	GAA		0.348	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		10	5	0	0	0	0	10	5				
SLC9A7	84679	broad.mit.edu	37	X	46472745	46472745	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:46472745C>G	ENST00000328306.4	-	16	1930	c.1905G>C	c.(1903-1905)ctG>ctC	p.L635L	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	635					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GGGGACTGGTCAGACATCGAG	0.512																																					Pancreas(118;454 1696 1930 13865 39976)	uc004dgu.1		NA																	0				ovary(2)	2						c.(1903-1905)CTG>CTC		solute carrier family 9, member 7							114.0	91.0	99.0					X																	46472745		2203	4300	6503	SO:0001819	synonymous_variant	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46472745C>G	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1905G>C	X.37:g.46472745C>G							p.L635L	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN			16	1913	-			635					O75827|Q5JXP9	Silent	SNP	ENST00000328306.4	37	c.1905G>C	CCDS14269.1																																																																																				0.512	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		19	27	0	0	0	0	19	27				
CFP	5199	broad.mit.edu	37	X	47485839	47485839	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:47485839G>A	ENST00000396992.3	-	7	1140	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	CFP_ENST00000377005.2_Silent_p.I340I|CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Silent_p.I340I	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	340	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GCTGGCCCGGGATTTCTTGAC	0.617																																						uc004dig.3		NA																	0				breast(2)|lung(1)	3						c.(1018-1020)ATC>ATT		complement factor properdin precursor							53.0	44.0	47.0					X																	47485839		2203	4300	6503	SO:0001819	synonymous_variant	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47485839G>A	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.1020C>T	X.37:g.47485839G>A						CFP_uc004dih.2_Silent_p.I340I|CFP_uc004dii.1_Silent_p.I276I|CFP_uc010nhu.2_Silent_p.I340I	p.I340I	NM_001145252	NP_001138724	P27918	PROP_HUMAN			7	1146	-			340			TSP type-1 5.		O15134|O15135|O15136|O75826	Silent	SNP	ENST00000396992.3	37	c.1020C>T	CCDS14282.1																																																																																				0.617	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		15	10	0	0	0	0	15	10				
CACNA1F	778	broad.mit.edu	37	X	49076130	49076130	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:49076130C>T	ENST00000376265.2	-	20	2600	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	CACNA1F_ENST00000323022.5_Missense_Mutation_p.E836K|CACNA1F_ENST00000480889.1_5'Flank|CACNA1F_ENST00000376251.1_Missense_Mutation_p.E782K	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	847					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGCTGCCCTCAGGGATGGGT	0.607																																						uc004dnb.2		NA																	0				breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(2539-2541)GAG>AAG		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						172.0	117.0	135.0					X																	49076130		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49076130C>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2539G>A	X.37:g.49076130C>T	ENSP00000365441:p.Glu847Lys					CACNA1F_uc010nip.2_Missense_Mutation_p.E836K	p.E847K	NM_005183	NP_005174	O60840	CAC1F_HUMAN			20	2601	-			847			Cytoplasmic (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.2539G>A	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	20.3	3.972145	0.74246	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96554	-4.05;-3.95;-3.95	4.89	4.89	0.63831	.	0.191979	0.45867	D	0.000334	D	0.95674	0.8593	L	0.59967	1.855	0.54753	D	0.999987	P;B	0.49559	0.925;0.449	P;B	0.47162	0.54;0.082	D	0.95340	0.8437	10	0.44086	T	0.13	.	15.9288	0.79644	0.0:1.0:0.0:0.0	.	836;847	F5CIQ9;O60840	.;CAC1F_HUMAN	K	782;836;847	ENSP00000365427:E782K;ENSP00000321618:E836K;ENSP00000365441:E847K	ENSP00000321618:E836K	E	-	1	0	CACNA1F	48963074	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.792000	0.85828	2.007000	0.58848	0.500000	0.49745	GAG		0.607	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		3	3	0	0	0	0	3	3				
AKAP4	8852	broad.mit.edu	37	X	49958507	49958507	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:49958507A>G	ENST00000376056.2	-	5	980	c.830T>C	c.(829-831)aTg>aCg	p.M277T	AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.M286T|AKAP4_ENST00000376064.3_Missense_Mutation_p.M277T|AKAP4_ENST00000481402.1_5'UTR					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					AGTGCCACGCATTTCTGCAGC	0.498																																						uc004dow.1		NA																	0				kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8						c.(856-858)ATG>ACG		A-kinase anchor protein 4 isoform 1							65.0	59.0	61.0					X																	49958507		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49958507A>G	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.830T>C	X.37:g.49958507A>G	ENSP00000365224:p.Met277Thr					AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.M108T|AKAP4_uc004dou.1_Missense_Mutation_p.M277T	p.M286T	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN			5	981	-	Ovarian(276;0.236)		286						Missense_Mutation	SNP	ENST00000376056.2	37	c.857T>C	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.892480	0.00522	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.06768	3.26;3.26;3.26	4.9	3.71	0.42584	A-kinase anchor 110kDa, C-terminal (1);	0.222985	0.31450	N	0.007639	T	0.07908	0.0198	L	0.46157	1.445	0.80722	D	1	B	0.28820	0.224	B	0.28011	0.085	T	0.29397	-1.0013	9	.	.	.	-4.17	7.9437	0.29974	0.7942:0.2058:0.0:0.0	.	286	Q5JQC9	AKAP4_HUMAN	T	277;286;277	ENSP00000365224:M277T;ENSP00000351327:M286T;ENSP00000365232:M277T	.	M	-	2	0	AKAP4	49845247	0.999000	0.42202	0.985000	0.45067	0.033000	0.12548	2.713000	0.47194	0.528000	0.28580	0.242000	0.17961	ATG		0.498	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		15	21	0	0	0	0	15	21				
HUWE1	10075	broad.mit.edu	37	X	53602642	53602642	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:53602642C>G	ENST00000342160.3	-	44	6448	c.5991G>C	c.(5989-5991)caG>caC	p.Q1997H	HUWE1_ENST00000262854.6_Missense_Mutation_p.Q1997H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1997					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGTCACTGCTCTGACGCGTAA	0.448																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(5989-5991)CAG>CAC		HECT, UBA and WWE domain containing 1							120.0	93.0	102.0					X																	53602642		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53602642C>G	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.5991G>C	X.37:g.53602642C>G	ENSP00000340648:p.Gln1997His					HUWE1_uc004dsn.2_Missense_Mutation_p.Q821H	p.Q1997H	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			45	6393	-			1997					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.5991G>C	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.53|15.53	2.861297|2.861297	0.51482|0.51482	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.38240	.|1.15;1.15	5.43|5.43	1.55|1.55	0.23275|0.23275	.|.	.|0.584822	.|0.17014	.|N	.|0.190367	T|T	0.34832|0.34832	0.0911|0.0911	N|N	0.24115|0.24115	0.695|0.695	0.45129|0.45129	D|D	0.998147|0.998147	.|D;D	.|0.59767	.|0.976;0.986	.|P;P	.|0.59703	.|0.731;0.862	T|T	0.08911|0.08911	-1.0699|-1.0699	5|10	.|0.45353	.|T	.|0.12	.|.	5.966|5.966	0.19325|0.19325	0.1327:0.6329:0.0:0.2344|0.1327:0.6329:0.0:0.2344	.|.	.|1997;1997	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	Q|H	1031|1997	.|ENSP00000340648:Q1997H;ENSP00000262854:Q1997H	.|ENSP00000262854:Q1997H	E|Q	-|-	1|3	0|2	HUWE1|HUWE1	53619367|53619367	0.941000|0.941000	0.31946|0.31946	0.953000|0.953000	0.39169|0.39169	0.992000|0.992000	0.81027|0.81027	0.100000|0.100000	0.15231|0.15231	0.128000|0.128000	0.18479|0.18479	0.600000|0.600000	0.82982|0.82982	GAG|CAG		0.448	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		6	7	0	0	0	0	6	7				
PIN4	5303	broad.mit.edu	37	X	71401627	71401627	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:71401627G>A	ENST00000373669.2	+	1	99	c.67G>A	c.(67-69)Gct>Act	p.A23T	PIN4_ENST00000218432.5_Missense_Mutation_p.A23T|PIN4_ENST00000423432.2_Missense_Mutation_p.A23T	NM_006223.3	NP_006214.2	Q9Y237	PIN4_HUMAN	protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)	0	Necessary for association with the pre- rRNP complexes.|Necessary for nuclear localization and DNA-binding.				protein folding (GO:0006457)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome (GO:0030684)|spindle (GO:0005819)	bent DNA binding (GO:0003681)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(2)	3	Renal(35;0.156)					TCAACAACAAGCTTCCAAGAT	0.547																																						uc004eam.2		NA																	0					0						c.(67-69)GCT>ACT		protein (peptidyl-prolyl cis/trans isomerase)							58.0	51.0	54.0					X																	71401627		2203	4300	6503	SO:0001583	missense	5303				protein folding|rRNA processing	cytoplasm|mitochondrial matrix|mitochondrial matrix|nucleolus|nucleolus|preribosome|spindle|spindle	bent DNA binding|DNA binding|double-stranded DNA binding|peptidyl-prolyl cis-trans isomerase activity	g.chrX:71401627G>A	AB009690	CCDS14417.1, CCDS55447.1	Xq13.1	2008-02-05	2006-01-12		ENSG00000102309	ENSG00000102309			8992	protein-coding gene	gene with protein product		300252	"""protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)"""			16522211, 17875217	Standard	NM_006223		Approved	PAR14, PAR17, EPVH	uc004eam.3	Q9Y237	OTTHUMG00000021811	ENST00000373669.2:c.67G>A	X.37:g.71401627G>A	ENSP00000362773:p.Ala23Thr					PIN4_uc004eao.1_Missense_Mutation_p.A23T	p.A23T	NM_006223	NP_006214	Q9Y237	PIN4_HUMAN			1	102	+	Renal(35;0.156)		Error:Variant_position_missing_in_Q9Y237_after_alignment					A8E0G6|B3KXM0|F5H1P5|Q0D2H3|Q3MHV0|Q52M21|Q5HYW6|Q6IRW4	Missense_Mutation	SNP	ENST00000373669.2	37	c.67G>A	CCDS14417.1	.	.	.	.	.	.	.	.	.	.	g	11.26	1.586590	0.28268	.	.	ENSG00000102309	ENST00000218432;ENST00000423432;ENST00000373669;ENST00000496835	.	.	.	4.92	-2.7	0.06004	.	1.419940	0.04520	N	0.384528	T	0.15435	0.0372	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.09930	-1.0652	9	0.26408	T	0.33	2.8787	1.0784	0.01638	0.3728:0.27:0.2178:0.1393	.	23;23	F5H1P5;Q9Y237-2	.;.	T	23;23;23;5	.	ENSP00000218432:A23T	A	+	1	0	PIN4	71318352	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.178000	0.09782	-0.624000	0.05611	0.502000	0.49764	GCT		0.547	PIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057175.2	NM_006223		5	11	0	0	0	0	5	11				
UPRT	139596	broad.mit.edu	37	X	74519710	74519710	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:74519710C>A	ENST00000373383.4	+	5	870	c.703C>A	c.(703-705)Ctt>Att	p.L235I	UPRT_ENST00000530743.1_Missense_Mutation_p.L99I|UPRT_ENST00000373379.1_Missense_Mutation_p.L235I	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	235					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						GAGAAAAGTCCTTCTGATGTA	0.413																																						uc004ecb.1		NA																	0					0						c.(703-705)CTT>ATT		uracil phosphoribosyltransferase (FUR1) homolog							141.0	128.0	132.0					X																	74519710		2203	4300	6503	SO:0001583	missense	139596				nucleoside metabolic process	cytoplasm|nucleus		g.chrX:74519710C>A	BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.703C>A	X.37:g.74519710C>A	ENSP00000362481:p.Leu235Ile					UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.L235I|UPRT_uc004ece.1_Missense_Mutation_p.L99I	p.L235I	NM_145052	NP_659489	Q96BW1	UPP_HUMAN			5	832	+			235					Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Missense_Mutation	SNP	ENST00000373383.4	37	c.703C>A	CCDS14429.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951118	0.73787	.	.	ENSG00000094841	ENST00000373383;ENST00000373379;ENST00000530743	D;D;D	0.92495	-3.05;-3.05;-3.05	5.79	4.92	0.64577	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.94095	0.8107	M	0.67700	2.07	0.80722	D	1	D;D	0.60160	0.987;0.987	D;D	0.64042	0.921;0.921	D	0.92053	0.5650	10	0.22109	T	0.4	-3.9346	13.2927	0.60280	0.0:0.9208:0.0:0.0792	.	235;235	A8KAF9;Q96BW1	.;UPP_HUMAN	I	235;235;99	ENSP00000362481:L235I;ENSP00000362477:L235I;ENSP00000434037:L99I	ENSP00000362477:L235I	L	+	1	0	UPRT	74436435	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.781000	0.68964	2.430000	0.82344	0.544000	0.68410	CTT		0.413	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1	NM_145052		37	23	1	0	5.04e-16	5.48e-16	37	23				
TAF7L	54457	broad.mit.edu	37	X	100532640	100532640	+	Missense_Mutation	SNP	C	C	G	rs376330895		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:100532640C>G	ENST00000372907.3	-	9	914	c.903G>C	c.(901-903)ttG>ttC	p.L301F	TAF7L_ENST00000324762.6_Missense_Mutation_p.L215F|TAF7L_ENST00000356784.1_Missense_Mutation_p.L215F|TAF7L_ENST00000372905.2_Missense_Mutation_p.L215F	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	301					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CCGAGGATATCAAAAATCCTG	0.468																																					Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.2		NA																	0				breast(1)	1						c.(901-903)TTG>TTC		TATA box binding protein-associated factor, RNA							187.0	174.0	179.0					X																	100532640		2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100532640C>G	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.903G>C	X.37:g.100532640C>G	ENSP00000361998:p.Leu301Phe					TAF7L_uc004eha.2_Missense_Mutation_p.L215F|TAF7L_uc004ehc.1_Missense_Mutation_p.L215F	p.L301F	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN			9	915	-			301					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.903G>C	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	c	9.006	0.981329	0.18812	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.22743	3.59;1.94;1.94;3.02	4.47	-1.82	0.07857	.	2.160390	0.02170	N	0.059561	T	0.10165	0.0249	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.04013	0.001;0.001	T	0.26430	-1.0103	10	0.56958	D	0.05	9.7613	1.4056	0.02279	0.1273:0.3506:0.2478:0.2742	.	301;215	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	F	301;215;215;215	ENSP00000361998:L301F;ENSP00000361996:L215F;ENSP00000320283:L215F;ENSP00000349235:L215F	ENSP00000320283:L215F	L	-	3	2	TAF7L	100419296	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.112000	0.10791	-0.212000	0.10109	0.597000	0.82753	TTG		0.468	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			20	97	0	0	0	0	20	97				
SLC6A14	11254	broad.mit.edu	37	X	115585606	115585606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:115585606C>T	ENST00000371900.4	+	10	1490	c.1402C>T	c.(1402-1404)Cag>Tag	p.Q468*		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	468					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CTGTGTGACTCAGGTATACTA	0.358																																						uc004eqi.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1402-1404)CAG>TAG		solute carrier family 6 (amino acid	L-Proline(DB00172)						171.0	127.0	142.0					X																	115585606		2203	4300	6503	SO:0001587	stop_gained	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115585606C>T	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1402C>T	X.37:g.115585606C>T	ENSP00000360967:p.Gln468*						p.Q468*	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN			10	1506	+			468			Helical; Name=9; (Potential).		Q5H942	Nonsense_Mutation	SNP	ENST00000371900.4	37	c.1402C>T	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	C	38	6.706424	0.97776	.	.	ENSG00000087916	ENST00000371900	.	.	.	5.59	5.59	0.84812	.	0.118143	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	15.8337	0.78782	0.0:1.0:0.0:0.0	.	.	.	.	X	468	.	ENSP00000360967:Q468X	Q	+	1	0	SLC6A14	115499634	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	2.116000	0.41930	2.337000	0.79520	0.538000	0.68166	CAG		0.358	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			17	21	0	0	0	0	17	21				
MCTS1	28985	broad.mit.edu	37	X	119738100	119738100	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:119738100G>C	ENST00000371317.5	+	1	266	c.9G>C	c.(7-9)aaG>aaC	p.K3N	MCTS1_ENST00000371315.3_5'Flank	NM_014060.2	NP_054779.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	3					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|ribosome disassembly (GO:0032790)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						TCATGTTCAAGAAGTAAGGAC	0.582																																						uc004esx.2		NA																	0					0						c.(7-9)AAG>AAC		malignant T cell amplified sequence 1 isoform 1							56.0	48.0	51.0					X																	119738100		2203	4300	6503	SO:0001583	missense	28985				cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding	g.chrX:119738100G>C	AB034206	CCDS14601.1, CCDS48160.1	Xq24	2008-05-14			ENSG00000232119	ENSG00000232119			23357	protein-coding gene	gene with protein product		300587				9766643	Standard	NM_014060		Approved	MCT-1	uc011mub.2	Q9ULC4	OTTHUMG00000022303	ENST00000371317.5:c.9G>C	X.37:g.119738100G>C	ENSP00000360367:p.Lys3Asn					MCTS1_uc011mub.1_5'Flank	p.K3N	NM_014060	NP_054779	Q9ULC4	MCTS1_HUMAN			1	357	+			3					B4DGY2|Q502X6	Missense_Mutation	SNP	ENST00000371317.5	37	c.9G>C	CCDS14601.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565932	0.45694	.	.	ENSG00000232119	ENST00000371317	T	0.52754	0.65	5.19	4.33	0.51752	.	.	.	.	.	T	0.53932	0.1827	M	0.82923	2.615	0.80722	D	1	P	0.35527	0.507	B	0.41764	0.366	T	0.54970	-0.8213	8	.	.	.	.	8.6689	0.34138	0.1046:0.0:0.8954:0.0	.	3	Q9ULC4	MCTS1_HUMAN	N	3	ENSP00000360367:K3N	.	K	+	3	2	MCTS1	119622128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.939000	0.56591	1.309000	0.44985	0.596000	0.82720	AAG		0.582	MCTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058110.1	NM_014060		8	24	0	0	0	0	8	24				
THOC2	57187	broad.mit.edu	37	X	122866817	122866817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:122866817G>A	ENST00000245838.8	-	1	87	c.56C>T	c.(55-57)tCa>tTa	p.S19L	THOC2_ENST00000355725.4_Missense_Mutation_p.S19L	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	19					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GCCTCTCCCTGATTTCTCCCA	0.632											OREG0003978|OREG0003979	type=REGULATORY REGION|Gene=BC041435|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=THOC2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc004etu.2		NA																	0				ovary(3)	3						c.(55-57)TCA>TTA		THO complex 2							95.0	92.0	93.0					X																	122866817		1978	4134	6112	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122866817G>A	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.56C>T	X.37:g.122866817G>A	ENSP00000245838:p.Ser19Leu		OREG0003979|OREG0003978	type=REGULATORY REGION|Gene=THOC2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=BC041435|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1522	THOC2_uc011mui.1_5'UTR	p.S19L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			1	88	-			19					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.56C>T	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389301	0.82902	.	.	ENSG00000125676	ENST00000245838;ENST00000355725	.	.	.	4.74	3.79	0.43588	.	.	.	.	.	T	0.41511	0.1162	L	0.49640	1.575	0.45777	D	0.998666	P	0.41748	0.761	B	0.35550	0.205	T	0.30794	-0.9966	8	0.27082	T	0.32	-1.3239	10.9025	0.47059	0.1129:0.0:0.8871:0.0	.	19	Q8NI27	THOC2_HUMAN	L	19	.	ENSP00000245838:S19L	S	-	2	0	THOC2	122694498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.499000	0.45372	2.191000	0.70037	0.544000	0.68410	TCA		0.632	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			7	37	0	0	0	0	7	37				
MAGEA6	4105	broad.mit.edu	37	X	151870254	151870254	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:151870254G>C	ENST00000329342.5	+	3	1169	c.944G>C	c.(943-945)tGa>tCa	p.*315S		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	0										breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAAGAGTGAGTCTGAGCA	0.577																																						uc004ffq.1		NA																	0					0						c.(943-945)TGA>TCA		melanoma antigen family A, 6							88.0	89.0	89.0					X																	151870254		2202	4298	6500	SO:0001578	stop_lost	4105						protein binding	g.chrX:151870254G>C		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.944G>C	X.37:g.151870254G>C	ENSP00000329199:p.*315Serext*2					MAGEA6_uc004ffr.1_Nonstop_Mutation_p.*315S|MAGEA2_uc010nto.2_Intron	p.*315S	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	1138	+	Acute lymphoblastic leukemia(192;6.56e-05)		315					A8IF93|Q6NW44	Nonstop_Mutation	SNP	ENST00000329342.5	37	c.944G>C	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	g	0.047	-1.263540	0.01445	.	.	ENSG00000197172	ENST00000329342	.	.	.	0.879	-0.863	0.10669	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.3336	0.07093	0.4659:0.0:0.5341:0.0	.	.	.	.	S	315	.	.	X	+	2	2	MAGEA6	151620910	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.565000	0.05929	-0.350000	0.08262	0.181000	0.17075	TGA		0.577	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		29	60	0	0	0	0	29	60				
G6PD	2539	broad.mit.edu	37	X	153760233	153760233	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:153760233C>A	ENST00000393564.2	-	13	1642	c.1530G>T	c.(1528-1530)gtG>gtT	p.V510V	G6PD_ENST00000369620.2_Silent_p.V556V|G6PD_ENST00000393562.2_Silent_p.V540V	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	510					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					TGTGGGGGTTCACCCACTTGT	0.677																																						uc004fly.1		NA																	0				ovary(4)	4						c.(1528-1530)GTG>GTT		glucose-6-phosphate dehydrogenase isoform b							61.0	40.0	47.0					X																	153760233		2203	4299	6502	SO:0001819	synonymous_variant	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153760233C>A	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.1530G>T	X.37:g.153760233C>A						G6PD_uc004flx.1_Silent_p.V540V	p.V510V	NM_001042351	NP_001035810	P11413	G6PD_HUMAN			13	1643	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)		510					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Silent	SNP	ENST00000393564.2	37	c.1530G>T	CCDS44023.1																																																																																				0.677	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		7	9	1	0	8.13e-05	8.47e-05	7	9				
OR4A47	403253	broad.mit.edu	37	11	48510865	48510866	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:48510865_48510866insT	ENST00000446524.1	+	1	597_598	c.521_522insT	c.(520-525)cattttfs	p.HF174fs		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	174						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(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GTCATTGATCATTTTTTCTGTG	0.465																																						uc010rhx.1		NA																	0				ovary(1)|skin(1)	2						c.(520-522)CATfs		olfactory receptor, family 4, subfamily A,																																				SO:0001589	frameshift_variant	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510865_48510866insT	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.527dupT	11.37:g.48510871_48510871dupT	ENSP00000412752:p.His174fs						p.H174fs	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			1	521_522	+			174			Extracellular (Potential).			Frame_Shift_Ins	INS	ENST00000446524.1	37	c.521_522insT	CCDS31490.1																																																																																				0.465	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		11	172	NA	NA	NA	NA	11	172	---	---	---	---
ZNF750	79755	broad.mit.edu	37	17	80790179	80790179	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:80790179delT	ENST00000269394.3	-	2	985	c.152delA	c.(151-153)aacfs	p.N51fs	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	51					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGTAATCGAGTTTTTACAAAG	0.433																																						uc002kga.2		NA																	0				central_nervous_system(1)	1						c.(151-153)AACfs		zinc finger protein 750							116.0	107.0	110.0					17																	80790179		2203	4300	6503	SO:0001589	frameshift_variant	79755					intracellular	zinc ion binding	g.chr17:80790179delT	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.152delA	17.37:g.80790179delT	ENSP00000269394:p.Asn51fs					TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.N51fs	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	463	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	51					Q9H899	Frame_Shift_Del	DEL	ENST00000269394.3	37	c.152delA	CCDS11819.1																																																																																				0.433	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		46	50	NA	NA	NA	NA	46	50	---	---	---	---
STK11	6794	broad.mit.edu	37	19	1221270	1221270	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:1221270delG	ENST00000326873.7	+	6	1966	c.793delG	c.(793-795)gagfs	p.E265fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGTTGTTTGAGAACATCGG	0.597		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												uc002lrl.1		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		23	Whole gene deletion(20)|Unknown(2)|Deletion - Frameshift(1)	p.0?(19)|p.?(2)|p.Y246fs*3(1)	cervix(14)|lung(5)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266						c.(793-795)GAGfs		serine/threonine protein kinase 11							61.0	64.0	63.0					19																	1221270		1983	4133	6116	SO:0001589	frameshift_variant	6794	Peutz-Jeghers_syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1221270delG	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.793delG	19.37:g.1221270delG	ENSP00000324856:p.Glu265fs	TSP Lung(3;<1E-08)					p.E265fs	NM_000455	NP_000446	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1908	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	265			Protein kinase.		B2RBX7|E7EW76	Frame_Shift_Del	DEL	ENST00000326873.7	37	c.793delG	CCDS45896.1																																																																																				0.597	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		5	8	NA	NA	NA	NA	5	8	---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71508386	71508409	+	In_Frame_Del	DEL	ACTACTGTTGCCCCACTGGGTCCC	ACTACTGTTGCCCCACTGGGTCCC	-	rs111931241		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:71508386_71508409delACTACTGTTGCCCCACTGGGTCCC	ENST00000396073.3	+	9	1524_1547	c.1243_1266delACTACTGTTGCCCCACTGGGTCCC	c.(1243-1266)actactgttgccccactgggtcccdel	p.TTVAPLGP415del	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	415					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCCTGTAGGAACTACTGTTGCCCCACTGGGTCCCAAACCTGGCC	0.451																																						uc011caw.1		NA																	0				ovary(3)	3	GRCh37	CI033730	ENAM	I		c.(1243-1266)ACTACTGTTGCCCCACTGGGTCCCdel		enamelin precursor																																				SO:0001651	inframe_deletion	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508386_71508409delACTACTGTTGCCCCACTGGGTCCC	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1243_1266delACTACTGTTGCCCCACTGGGTCCC	4.37:g.71508386_71508409delACTACTGTTGCCCCACTGGGTCCC	ENSP00000379383:p.Thr415_Pro422del						p.TTVAPLGP415del	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1524_1547	+			415_422					Q17RI5|Q9H3D1	In_Frame_Del	DEL	ENST00000396073.3	37	c.1243_1266delACTACTGTTGCCCCACTGGGTCCC	CCDS3544.2																																																																																				0.451	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		9	94	NA	NA	NA	NA	9	94	---	---	---	---
SLC39A7	7922	broad.mit.edu	37	6	33169037	33169037	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:33169037delG	ENST00000374677.3	+	1	388	c.15delG	c.(13-15)ctgfs	p.L5fs	RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000374685.4_5'Flank|RXRB_ENST00000413614.2_5'Flank|SLC39A7_ENST00000374675.3_Frame_Shift_Del_p.L5fs|RXRB_ENST00000544186.1_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	5					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)	p.A7fs*10(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CCAGAGGCCTGGGGGCCCCCC	0.637																																						uc003odf.2		NA																	1	Deletion - Frameshift(1)		large_intestine(1)	large_intestine(1)	1						c.(13-15)CTGfs		solute carrier family 39, member 7							63.0	74.0	70.0					6																	33169037		1912	4116	6028	SO:0001589	frameshift_variant	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33169037delG	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.15delG	6.37:g.33169037delG	ENSP00000363809:p.Leu5fs					RXRB_uc003odb.2_5'Flank|RXRB_uc003odc.2_5'Flank|RXRB_uc003odd.2_5'Flank|RXRB_uc011dqr.1_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc003ode.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.2_Frame_Shift_Del_p.L5fs|SLC39A7_uc011dqv.1_5'UTR|SLC39A7_uc003odh.2_5'Flank	p.L5fs	NM_001077516	NP_001070984	Q92504	S39A7_HUMAN			2	132	+			5					B0UXF6|Q5STP8|Q9UIQ0	Frame_Shift_Del	DEL	ENST00000374677.3	37	c.15delG	CCDS43453.1																																																																																				0.637	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		8	156	NA	NA	NA	NA	8	156	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34839418	34839419	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:34839418_34839419insT	ENST00000192788.5	+	19	4210_4211	c.4039_4040insT	c.(4039-4041)atgfs	p.M1347fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.M1347fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1347							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CACTCTGGCCATGGAACATGTT	0.525																																						uc003oju.3		NA																	0				ovary(3)	3						c.(4039-4041)ATGfs		ICBP90 binding protein 1																																				SO:0001589	frameshift_variant	54887							g.chr6:34839418_34839419insT	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.4040dupT	6.37:g.34839419_34839419dupT	ENSP00000192788:p.Met1347fs					UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	p.M1347fs	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			19	4273_4274	+			1347					Q9NXE0	Frame_Shift_Ins	INS	ENST00000192788.5	37	c.4039_4040insT	CCDS43455.1																																																																																				0.525	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		21	38	NA	NA	NA	NA	21	38	---	---	---	---
ZNF107	51427	broad.mit.edu	37	7	64168926	64168927	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:64168926_64168927insA	ENST00000395391.1	+	4	3619_3620	c.2244_2245insA	c.(2245-2247)aaafs	p.K749fs	ZNF107_ENST00000344930.3_Frame_Shift_Ins_p.K749fs|ZNF107_ENST00000423627.1_Frame_Shift_Ins_p.K749fs			Q9UII5	ZN107_HUMAN	zinc finger protein 107	749					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)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AGAAACCCTACAAATGTGGAGA	0.361																																						uc003ttd.2		NA																	0				ovary(1)	1						c.(2242-2247)TACAAAfs		zinc finger protein 107																																				SO:0001589	frameshift_variant	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64168926_64168927insA	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.2247dupA	7.37:g.64168929_64168929dupA	ENSP00000378789:p.Lys749fs					ZNF107_uc003tte.2_Frame_Shift_Ins_p.Y748fs	p.Y748fs	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	3030_3031	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	748_749			C2H2-type 25; atypical.			Frame_Shift_Ins	INS	ENST00000395391.1	37	c.2244_2245insA	CCDS5527.1																																																																																				0.361	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		13	19	NA	NA	NA	NA	13	19	---	---	---	---
