#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KIF1B	23095	broad.mit.edu	37	1	10386311	10386311	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr1:10386311G>A	ENST00000377086.1	+	27	3020	c.2818G>A	c.(2818-2820)Gtg>Atg	p.V940M	KIF1B_ENST00000263934.6_Missense_Mutation_p.V894M|KIF1B_ENST00000377081.1_Missense_Mutation_p.V940M			O60333	KIF1B_HUMAN	kinesin family member 1B	940					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.V894M(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGAGGCATTCGTGGATGACGC	0.557																																						uc001aqx.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(2818-2820)GTG>ATG		kinesin family member 1B isoform b							142.0	127.0	132.0					1																	10386311		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10386311G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2818G>A	1.37:g.10386311G>A	ENSP00000366290:p.Val940Met					KIF1B_uc001aqw.3_Missense_Mutation_p.V894M|KIF1B_uc001aqy.2_Missense_Mutation_p.V914M|KIF1B_uc001aqz.2_Missense_Mutation_p.V940M|KIF1B_uc001ara.2_Missense_Mutation_p.V900M|KIF1B_uc001arb.2_Missense_Mutation_p.V926M	p.V940M	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	27	3020	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	940					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.2818G>A		.	.	.	.	.	.	.	.	.	.	G	15.15	2.746980	0.49257	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.72505	-0.59;-0.66;-0.66	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.69869	0.3159	N	0.04508	-0.205	0.80722	D	1	D;D;D;D;D;D	0.76494	0.977;0.99;0.975;0.99;0.998;0.999	B;P;B;P;D;D	0.76071	0.339;0.469;0.284;0.572;0.971;0.987	T	0.74228	-0.3733	10	0.33141	T	0.24	.	19.6199	0.95651	0.0:0.0:1.0:0.0	.	926;900;940;914;940;894	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	M	940;894;940;940	ENSP00000263934:V894M;ENSP00000366290:V940M;ENSP00000366284:V940M	ENSP00000263934:V894M	V	+	1	0	KIF1B	10308898	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.540000	0.82074	2.633000	0.89246	0.650000	0.86243	GTG		PASS	0.557	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			11	149	11	149	---	---	---	---
GLIS1	148979	broad.mit.edu	37	1	54060199	54060199	+	Missense_Mutation	SNP	G	G	A	rs201535528		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr1:54060199G>A	ENST00000312233.2	-	3	943	c.377C>T	c.(376-378)tCg>tTg	p.S126L		NM_147193.2	NP_671726.2			GLIS family zinc finger 1									p.S126L(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GCTGTCCGTCGATGCAGGGCC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16130	0.0		0.001	False		,,,				2504	0.0					uc001cvr.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(376-378)TCG>TTG		GLIS family zinc finger 1							23.0	28.0	26.0					1																	54060199		2199	4295	6494	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:54060199G>A	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.377C>T	1.37:g.54060199G>A	ENSP00000309653:p.Ser126Leu						p.S126L	NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN			3	944	-			126						Missense_Mutation	SNP	ENST00000312233.2	37	c.377C>T	CCDS582.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.851	0.526260	0.13066	.	.	ENSG00000174332	ENST00000312233	T	0.13778	2.56	4.8	2.71	0.32032	.	1.045680	0.07550	N	0.915317	T	0.10078	0.0247	N	0.24115	0.695	0.09310	N	1	B	0.24426	0.103	B	0.14578	0.011	T	0.24977	-1.0145	10	0.39692	T	0.17	.	8.8685	0.35300	0.0:0.1411:0.5822:0.2767	.	126	Q8NBF1	GLIS1_HUMAN	L	126	ENSP00000309653:S126L	ENSP00000309653:S126L	S	-	2	0	GLIS1	53832787	0.734000	0.28142	0.017000	0.16124	0.001000	0.01503	3.678000	0.54627	1.307000	0.44944	0.563000	0.77884	TCG		PASS	0.632	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		8	93	8	93	---	---	---	---
DOCK7	85440	broad.mit.edu	37	1	62923246	62923246	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr1:62923246G>C	ENST00000340370.5	-	48	6267	c.6250C>G	c.(6250-6252)Cag>Gag	p.Q2084E	DOCK7_ENST00000251157.5_Missense_Mutation_p.Q2104E	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	2115	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.Q2084E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTGTATAACTGAGGGATCTTT	0.413																																						uc001daq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(6310-6312)CAG>GAG		dedicator of cytokinesis 7							170.0	158.0	162.0					1																	62923246		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62923246G>C		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.6250C>G	1.37:g.62923246G>C	ENSP00000340742:p.Gln2084Glu					DOCK7_uc001dan.2_Missense_Mutation_p.Q1967E|DOCK7_uc001dao.2_Missense_Mutation_p.Q1965E|DOCK7_uc001dap.2_Missense_Mutation_p.Q2084E|DOCK7_uc001dam.2_Missense_Mutation_p.Q1286E|DOCK7_uc010oov.1_Missense_Mutation_p.Q845E	p.Q2104E	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			48	6344	-			2115					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.6310C>G	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.09|14.09	2.431815|2.431815	0.43122|0.43122	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441|ENST00000454575	T;T|.	0.13196|.	2.61;2.62|.	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.51500|.	0.1678|.	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	P;P;D;P;B;B|.	0.63880|.	0.904;0.528;0.993;0.907;0.027;0.024|.	P;B;D;P;B;B|.	0.77557|.	0.682;0.313;0.99;0.831;0.023;0.029|.	T|.	0.43458|.	-0.9390|.	10|.	0.09590|.	T|.	0.72|.	.|.	20.4777|20.4777	0.99188|0.99188	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2115;2104;2084;2073;2075;2106|.	Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6|.	DOCK7_HUMAN;.;.;.;.;.|.	E|X	2115;2104;2084;845|1277	ENSP00000251157:Q2104E;ENSP00000340742:Q2084E|.	ENSP00000251157:Q2104E|.	Q|S	-|-	1|2	0|0	DOCK7|DOCK7	62695834|62695834	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.760000|9.760000	0.98935|0.98935	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	CAG|TCA		PASS	0.413	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		15	143	15	143	---	---	---	---
PKN2	5586	broad.mit.edu	37	1	89279257	89279257	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr1:89279257G>C	ENST00000370521.3	+	16	2479	c.2120G>C	c.(2119-2121)aGa>aCa	p.R707T	PKN2_ENST00000370513.5_Missense_Mutation_p.R659T|PKN2_ENST00000370505.3_Missense_Mutation_p.R550T|PKN2_ENST00000544045.1_Missense_Mutation_p.R381T	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	707	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.R707T(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TGTGAAAAAAGAATTTTTGAA	0.279																																						uc001dmn.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|skin(1)	3						c.(2119-2121)AGA>ACA		protein kinase N2							91.0	84.0	86.0					1																	89279257		1802	4074	5876	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89279257G>C	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2120G>C	1.37:g.89279257G>C	ENSP00000359552:p.Arg707Thr					PKN2_uc010osp.1_Missense_Mutation_p.R691T|PKN2_uc010osq.1_Missense_Mutation_p.R550T|PKN2_uc009wcv.2_Missense_Mutation_p.R659T|PKN2_uc010osr.1_Missense_Mutation_p.R372T	p.R707T	NM_006256	NP_006247	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	16	2462	+		Lung NSC(277;0.123)	707			Protein kinase.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.2120G>C	CCDS714.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460537	0.84317	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	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	0.42294	U	0.000721	T	0.63721	0.2535	N	0.17800	0.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.70274	-0.4917	10	0.87932	D	0	.	19.5309	0.95228	0.0:0.0:1.0:0.0	.	691;659;707	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	T	707;550;659;381	ENSP00000359552:R707T;ENSP00000359536:R550T;ENSP00000359544:R659T;ENSP00000439643:R381T	ENSP00000359536:R550T	R	+	2	0	PKN2	89051845	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.363000	0.97131	2.636000	0.89361	0.650000	0.86243	AGA		PASS	0.279	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		13	155	13	155	---	---	---	---
CTTNBP2NL	55917	broad.mit.edu	37	1	112998820	112998820	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr1:112998820G>C	ENST00000271277.6	+	6	931	c.706G>C	c.(706-708)Gag>Cag	p.E236Q		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	236					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)	p.E236Q(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCCCAGGTAGAGAAGCAGTT	0.483																																						uc001ebx.2																			2	Substitution - Missense(2)		NS(1)|lung(1)	central_nervous_system(2)|ovary(1)	3						c.(706-708)GAG>CAG		CTTNBP2 N-terminal like							78.0	88.0	85.0					1																	112998820		2203	4300	6503	SO:0001583	missense	55917					actin cytoskeleton	protein binding	g.chr1:112998820G>C	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.706G>C	1.37:g.112998820G>C	ENSP00000271277:p.Glu236Gln					CTTNBP2NL_uc001ebz.2_5'Flank	p.E236Q	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	934	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	236			Potential.		B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	c.706G>C	CCDS845.1	.	.	.	.	.	.	.	.	.	.	G	34	5.411510	0.96072	.	.	ENSG00000143079	ENST00000271277;ENST00000441739	T;T	0.64991	-0.13;0.48	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.79034	0.4378	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76124	-0.3074	10	0.40728	T	0.16	-28.6887	20.239	0.98366	0.0:0.0:1.0:0.0	.	236	Q9P2B4	CT2NL_HUMAN	Q	236	ENSP00000271277:E236Q;ENSP00000390976:E236Q	ENSP00000271277:E236Q	E	+	1	0	CTTNBP2NL	112800343	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.230000	0.95299	2.884000	0.98904	0.655000	0.94253	GAG		PASS	0.483	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		9	81	9	81	---	---	---	---
LRIG2	9860	broad.mit.edu	37	1	113655227	113655227	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr1:113655227A>C	ENST00000361127.5	+	14	2123	c.1925A>C	c.(1924-1926)gAc>gCc	p.D642A	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	642	Ig-like C2-type 2.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D642A(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GGTGGTACTGACTTTCCTGCG	0.493																																						uc001edf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1924-1926)GAC>GCC		leucine-rich repeats and immunoglobulin-like							144.0	130.0	134.0					1																	113655227		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113655227A>C	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1925A>C	1.37:g.113655227A>C	ENSP00000355396:p.Asp642Ala					LRIG2_uc009wgn.1_Missense_Mutation_p.D539A	p.D642A	NM_014813	NP_055628	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	14	2123	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	642			Ig-like C2-type 2.|Extracellular (Potential).		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.1925A>C	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.784185	0.90282	.	.	ENSG00000198799	ENST00000361127	T	0.76448	-1.02	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80964	0.4725	L	0.47716	1.5	0.58432	D	0.999991	D	0.71674	0.998	D	0.73708	0.981	D	0.83456	0.0051	10	0.62326	D	0.03	.	15.5171	0.75833	1.0:0.0:0.0:0.0	.	642	O94898	LRIG2_HUMAN	A	642	ENSP00000355396:D642A	ENSP00000355396:D642A	D	+	2	0	LRIG2	113456750	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.339000	0.96797	2.070000	0.61991	0.482000	0.46254	GAC		PASS	0.493	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		15	130	15	130	---	---	---	---
MCL1	4170	broad.mit.edu	37	1	150551640	150551640	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr1:150551640C>T	ENST00000369026.2	-	1	426	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_Missense_Mutation_p.E123K	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	123	PEST-like.				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)	p.E123K(1)		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)			AGCTCCTCTTCGGGCGACATG	0.687																																						uc001euz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)GAA>AAA		myeloid cell leukemia sequence 1 isoform 1							16.0	20.0	18.0					1																	150551640		2150	4219	6369	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.chr1:150551640C>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.367G>A	1.37:g.150551640C>T	ENSP00000358022:p.Glu123Lys					MCL1_uc010pch.1_Missense_Mutation_p.E13K|MCL1_uc001eva.2_Missense_Mutation_p.E123K	p.E123K	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	497	-	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)		123			PEST-like.		B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Missense_Mutation	SNP	ENST00000369026.2	37	c.367G>A	CCDS957.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993961	0.74703	.	.	ENSG00000143384	ENST00000369026;ENST00000307940;ENST00000439749	T;T	0.03860	3.78;3.78	5.08	5.08	0.68730	.	1.446210	0.04227	N	0.334594	T	0.06645	0.0170	L	0.36672	1.1	0.30746	N	0.745611	D;D	0.76494	0.999;0.995	P;P	0.61201	0.885;0.761	T	0.16748	-1.0392	10	0.62326	D	0.03	-15.3723	9.3921	0.38378	0.0:0.9062:0.0:0.0938	.	123;123	Q07820-2;Q07820	.;MCL1_HUMAN	K	123;123;52	ENSP00000358022:E123K;ENSP00000309973:E123K	ENSP00000309973:E123K	E	-	1	0	MCL1	148818264	0.991000	0.36638	0.805000	0.32314	0.011000	0.07611	2.091000	0.41691	2.636000	0.89361	0.655000	0.94253	GAA		PASS	0.687	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960		7	52	7	52	---	---	---	---
THBS3	7059	broad.mit.edu	37	1	155172145	155172145	+	Silent	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr1:155172145G>A	ENST00000368378.3	-	9	1025	c.1005C>T	c.(1003-1005)acC>acT	p.T335T	THBS3_ENST00000457183.2_Silent_p.T215T|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000541576.1_5'Flank|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	335	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.T335T(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGCCGGGCATGGTGTTGATGC	0.617																																						uc001fix.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(2)	5						c.(1003-1005)ACC>ACT		thrombospondin 3 precursor							89.0	86.0	87.0					1																	155172145		2203	4300	6503	SO:0001819	synonymous_variant	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155172145G>A	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1005C>T	1.37:g.155172145G>A						RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Silent_p.T326T|THBS3_uc001fiz.2_Silent_p.T335T|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Silent_p.T215T|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_RNA	p.T335T	NM_007112	NP_009043	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		9	1028	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		335			EGF-like 2; calcium-binding (Potential).		B1AVR8|B4DQ20|Q8WV34	Silent	SNP	ENST00000368378.3	37	c.1005C>T	CCDS1099.1																																																																																				PASS	0.617	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		19	117	19	117	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158604375	158604375	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr1:158604375C>A	ENST00000368147.4	-	39	5703	c.5523G>T	c.(5521-5523)ttG>ttT	p.L1841F		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1841					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.L1841F(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCGGACAGCCAAAGCATTCT	0.398																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5521-5523)TTG>TTT		spectrin, alpha, erythrocytic 1							197.0	182.0	187.0					1																	158604375		1954	4144	6098	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158604375C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5523G>T	1.37:g.158604375C>A	ENSP00000357129:p.Leu1841Phe						p.L1841F	NM_003126	NP_003117	P02549	SPTA1_HUMAN			39	5722	-	all_hematologic(112;0.0378)		1841			Spectrin 18.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5523G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886856	0.33348	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52983	0.64;0.64	5.64	2.57	0.30868	.	1.620550	0.04248	N	0.338205	T	0.28433	0.0703	M	0.80508	2.5	0.27282	N	0.95809	P	0.40553	0.721	B	0.40165	0.321	T	0.16897	-1.0387	10	0.24483	T	0.36	.	1.9994	0.03463	0.1721:0.5104:0.1478:0.1697	.	1841	P02549	SPTA1_HUMAN	F	1841	ENSP00000357130:L1841F;ENSP00000357129:L1841F	ENSP00000357129:L1841F	L	-	3	2	SPTA1	156870999	1.000000	0.71417	0.142000	0.22268	0.774000	0.43823	0.996000	0.29719	0.937000	0.37394	0.650000	0.86243	TTG		PASS	0.398	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		32	186	32	186	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167088693	167088693	+	Silent	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr1:167088693G>A	ENST00000361200.2	+	5	811	c.645G>A	c.(643-645)ctG>ctA	p.L215L	DUSP27_ENST00000271385.5_Silent_p.L215L|DUSP27_ENST00000443333.1_Silent_p.L215L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	215	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L215L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGGCGCTGCTGACTTACAGAG	0.527																																						uc001geb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(643-645)CTG>CTA		dual specificity phosphatase 27							76.0	64.0	68.0					1																	167088693		2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167088693G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.645G>A	1.37:g.167088693G>A							p.L215L	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			4	645	+			215			Tyrosine-protein phosphatase.		A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.645G>A	CCDS30932.1																																																																																				PASS	0.527	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		10	45	10	45	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183515449	183515449	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr1:183515449C>T	ENST00000347615.2	+	17	2838	c.2719C>T	c.(2719-2721)Cct>Tct	p.P907S	SMG7_ENST00000507469.1_Missense_Mutation_p.P861S|SMG7_ENST00000456731.2_Missense_Mutation_p.P819S|SMG7_ENST00000515829.2_Missense_Mutation_p.P861S|SMG7_ENST00000508461.1_Missense_Mutation_p.P865S|SMG7_ENST00000367537.3_Missense_Mutation_p.P890S	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	907					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.P907S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AGAGCAGGATCCTGTACCCAG	0.473																																						uc001gqg.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(2719-2721)CCT>TCT		SMG-7 homolog isoform 1							87.0	93.0	91.0					1																	183515449		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515449C>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2719C>T	1.37:g.183515449C>T	ENSP00000340766:p.Pro907Ser					SMG7_uc010pob.1_Missense_Mutation_p.P890S|SMG7_uc001gqf.2_Missense_Mutation_p.P861S|SMG7_uc001gqh.2_Missense_Mutation_p.P861S|SMG7_uc001gqi.2_Missense_Mutation_p.P819S|SMG7_uc010poc.1_Missense_Mutation_p.P865S	p.P907S	NM_173156	NP_775179	Q92540	SMG7_HUMAN			17	2841	+			907					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.2719C>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224743	0.39300	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.72	4.78	0.61160	.	0.517441	0.20028	N	0.100769	T	0.31136	0.0787	N	0.19112	0.55	0.35652	D	0.811836	B;B;B;B;B;B	0.20887	0.049;0.02;0.001;0.0;0.001;0.043	B;B;B;B;B;B	0.19946	0.024;0.016;0.002;0.004;0.002;0.027	T	0.27297	-1.0078	10	0.35671	T	0.21	-12.1399	16.447	0.83937	0.0:0.7594:0.2406:0.0	.	865;890;819;861;907;861	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	S	819;890;865;907;861;861	ENSP00000407629:P819S;ENSP00000356507:P890S;ENSP00000426915:P865S;ENSP00000340766:P907S;ENSP00000425133:P861S;ENSP00000421358:P861S	ENSP00000340766:P907S	P	+	1	0	SMG7	181782072	0.508000	0.26154	0.997000	0.53966	0.937000	0.57800	1.103000	0.31062	2.691000	0.91804	0.655000	0.94253	CCT		PASS	0.473	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		11	72	11	72	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190129961	190129961	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr1:190129961T>C	ENST00000367462.3	-	7	1252	c.1021A>G	c.(1021-1023)Ata>Gta	p.I341V	BRINP3_ENST00000534846.1_Missense_Mutation_p.I239V	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	341					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.I341V(1)									AAATGCATTATAGTAGATGTG	0.318																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1021-1023)ATA>GTA		family with sequence similarity 5, member C							107.0	117.0	114.0					1																	190129961		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190129961T>C	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1021A>G	1.37:g.190129961T>C	ENSP00000356432:p.Ile341Val					FAM5C_uc010pot.1_Missense_Mutation_p.I239V	p.I341V	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			7	1253	-	Prostate(682;0.198)		341					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1021A>G	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	8.964	0.971259	0.18736	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.18960	2.45;2.18	5.75	0.686	0.18015	.	0.225063	0.41097	N	0.000941	T	0.12135	0.0295	L	0.29908	0.895	0.27114	N	0.962308	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.16630	-1.0396	10	0.36615	T	0.2	.	5.4799	0.16717	0.0:0.2249:0.1361:0.639	.	239;341	B7Z260;Q76B58	.;FAM5C_HUMAN	V	341;239	ENSP00000356432:I341V;ENSP00000438022:I239V	ENSP00000356432:I341V	I	-	1	0	FAM5C	188396584	1.000000	0.71417	0.002000	0.10522	0.996000	0.88848	1.584000	0.36589	-0.121000	0.11787	0.467000	0.42956	ATA		PASS	0.318	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		46	166	46	166	---	---	---	---
KDM5B	10765	broad.mit.edu	37	1	202718206	202718206	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr1:202718206G>A	ENST00000367265.3	-	14	3047	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F	KDM5B_ENST00000367264.2_Missense_Mutation_p.S664F	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	628					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)	p.S628F(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTCATCGTGGGAAAACACACA	0.413																																						uc001gyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|urinary_tract(1)	5						c.(1882-1884)TCC>TTC		jumonji, AT rich interactive domain 1B							123.0	105.0	111.0					1																	202718206		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.chr1:202718206G>A	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.1883C>T	1.37:g.202718206G>A	ENSP00000356234:p.Ser628Phe					KDM5B_uc009xag.2_Missense_Mutation_p.S664F|KDM5B_uc001gyg.1_Missense_Mutation_p.S470F	p.S628F	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			14	1999	-			628					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.1883C>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136258	0.94517	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.73047	-0.71;-0.71;-0.71	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.87216	0.6122	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.88407	0.3019	10	0.87932	D	0	-19.4504	20.089	0.97809	0.0:0.0:1.0:0.0	.	664;628	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	F	628;470;664;470	ENSP00000356234:S628F;ENSP00000356233:S664F;ENSP00000235790:S470F	ENSP00000235790:S470F	S	-	2	0	KDM5B	200984829	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.793000	0.99091	2.752000	0.94435	0.557000	0.71058	TCC		PASS	0.413	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		8	99	8	99	---	---	---	---
IRF6	3664	broad.mit.edu	37	1	209965712	209965712	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr1:209965712G>T	ENST00000367021.3	-	6	741	c.569C>A	c.(568-570)gCa>gAa	p.A190E	IRF6_ENST00000542854.1_Missense_Mutation_p.A95E	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	190					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A190E(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GGGCCACACTGCCTCCGGGCT	0.552										HNSCC(57;0.16)																												uc001hhq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(568-570)GCA>GAA		interferon regulatory factor 6							86.0	76.0	79.0					1																	209965712		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209965712G>T	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.569C>A	1.37:g.209965712G>T	ENSP00000355988:p.Ala190Glu	HNSCC(57;0.16)				IRF6_uc010psm.1_Missense_Mutation_p.A95E|IRF6_uc009xct.1_Missense_Mutation_p.A190E	p.A190E	NM_006147	NP_006138	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	6	832	-			190					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.569C>A	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606129	0.28623	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	D;D;D	0.97480	-4.33;-3.85;-4.4	5.82	5.82	0.92795	.	0.748479	0.13775	N	0.363641	D	0.92616	0.7654	N	0.14661	0.345	0.37867	D	0.929931	B	0.12630	0.006	B	0.14023	0.01	D	0.88529	0.3101	9	.	.	.	.	14.8937	0.70627	0.0:0.0:0.8567:0.1433	.	190	O14896	IRF6_HUMAN	E	190;95;190	ENSP00000355988:A190E;ENSP00000440532:A95E;ENSP00000403855:A190E	.	A	-	2	0	IRF6	208032335	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.296000	0.59055	2.756000	0.94617	0.563000	0.77884	GCA		PASS	0.552	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		3	92	3	92	---	---	---	---
RPS6KC1	26750	broad.mit.edu	37	1	213414815	213414815	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr1:213414815G>T	ENST00000366960.3	+	11	2146	c.1996G>T	c.(1996-1998)Gac>Tac	p.D666Y	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.D369Y|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D454Y|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D654Y	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	666					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.D666Y(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GGGCTCAGATGACTCAGTGCC	0.403																																						uc010ptr.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|breast(1)	8						c.(1996-1998)GAC>TAC		ribosomal protein S6 kinase, 52kDa, polypeptide							90.0	89.0	90.0					1																	213414815		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213414815G>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1996G>T	1.37:g.213414815G>T	ENSP00000355927:p.Asp666Tyr					RPS6KC1_uc001hkd.2_Missense_Mutation_p.D654Y|RPS6KC1_uc010pts.1_Missense_Mutation_p.D454Y|RPS6KC1_uc010ptt.1_Missense_Mutation_p.D454Y|RPS6KC1_uc010ptu.1_Missense_Mutation_p.D485Y|RPS6KC1_uc010ptv.1_Missense_Mutation_p.D201Y|RPS6KC1_uc001hke.2_Missense_Mutation_p.D485Y	p.D666Y	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2155	+			666					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.1996G>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464757	0.63513	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.55588	0.97;1.04;1.04;0.51	5.19	5.19	0.71726	.	0.054567	0.85682	D	0.000000	T	0.73110	0.3545	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.99;0.994	T	0.76438	-0.2959	10	0.87932	D	0	-12.1485	18.7447	0.91788	0.0:0.0:1.0:0.0	.	454;666;654	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	Y	454;666;654;369	ENSP00000442306:D454Y;ENSP00000355927:D666Y;ENSP00000355926:D654Y;ENSP00000439282:D369Y	ENSP00000355926:D654Y	D	+	1	0	RPS6KC1	211481438	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	8.882000	0.92420	2.416000	0.81992	0.557000	0.71058	GAC		PASS	0.403	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		25	116	25	116	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216040459	216040459	+	Missense_Mutation	SNP	G	G	C	rs377191191		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr1:216040459G>C	ENST00000307340.3	-	44	9121	c.8735C>G	c.(8734-8736)cCg>cGg	p.P2912R	USH2A_ENST00000366943.2_Missense_Mutation_p.P2912R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2912	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.P2912R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCTCGGCTCGGTGTAAAACC	0.423										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(8734-8736)CCG>CGG		usherin isoform B							115.0	99.0	105.0					1																	216040459		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216040459G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8735C>G	1.37:g.216040459G>C	ENSP00000305941:p.Pro2912Arg	HNSCC(13;0.011)					p.P2912R	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	44	9122	-			2912			Extracellular (Potential).|Fibronectin type-III 15.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8735C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804092	0.50315	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55588	0.51;0.51	5.72	4.81	0.61882	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.171137	0.28016	N	0.016929	T	0.53142	0.1778	L	0.40543	1.245	0.09310	N	1	P	0.48834	0.916	P	0.51453	0.67	T	0.49588	-0.8924	10	0.66056	D	0.02	.	10.7384	0.46139	0.1456:0.0:0.8544:0.0	.	2912	O75445	USH2A_HUMAN	R	2912	ENSP00000305941:P2912R;ENSP00000355910:P2912R	ENSP00000305941:P2912R	P	-	2	0	USH2A	214107082	0.381000	0.25140	0.010000	0.14722	0.311000	0.27955	3.569000	0.53827	1.418000	0.47098	0.557000	0.71058	CCG		PASS	0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		4	86	4	86	---	---	---	---
WNT3A	89780	broad.mit.edu	37	1	228210542	228210542	+	Silent	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr1:228210542C>T	ENST00000284523.1	+	2	324	c.246C>T	c.(244-246)cgC>cgT	p.R82R	WNT3A_ENST00000366753.2_Silent_p.R82R	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	82					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)	p.R82R(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				ACCAGTTCCGCGGCCGCCGGT	0.642																																						uc001hrq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(244-246)CGC>CGT		wingless-type MMTV integration site family,							44.0	45.0	45.0					1																	228210542		2203	4300	6503	SO:0001819	synonymous_variant	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228210542C>T	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.246C>T	1.37:g.228210542C>T						WNT3A_uc001hrp.1_Silent_p.R82R	p.R82R	NM_033131	NP_149122	P56704	WNT3A_HUMAN			2	324	+		Prostate(94;0.0405)	82					Q3SY79|Q3SY80|Q969P2	Silent	SNP	ENST00000284523.1	37	c.246C>T	CCDS1564.1																																																																																				PASS	0.642	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		7	48	7	48	---	---	---	---
ZNF669	79862	broad.mit.edu	37	1	247264358	247264358	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr1:247264358C>A	ENST00000343381.6	-	4	885	c.713G>T	c.(712-714)aGa>aTa	p.R238I	ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.R152I|ZNF669_ENST00000366501.1_3'UTR|ZNF669_ENST00000366500.1_3'UTR	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R238I(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CATGTGTCTTCTAACACCTGG	0.368																																						uc001ice.2																			1	Substitution - Missense(1)		lung(1)		0						c.(712-714)AGA>ATA		zinc finger protein 669 isoform 1							125.0	119.0	121.0					1																	247264358		2203	4300	6503	SO:0001583	missense	79862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247264358C>A		CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"""Zinc fingers, C2H2-type"", ""-"""	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.713G>T	1.37:g.247264358C>A	ENSP00000342818:p.Arg238Ile					ZNF669_uc001icf.2_Missense_Mutation_p.R152I	p.R238I	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		4	886	-	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		238			C2H2-type 2.		B3KP94|Q5VT39|Q9H9Q6	Missense_Mutation	SNP	ENST00000343381.6	37	c.713G>T	CCDS31088.1	.	.	.	.	.	.	.	.	.	.	C	4.235	0.042566	0.08196	.	.	ENSG00000188295	ENST00000535105;ENST00000448299;ENST00000343381	T;T	0.22134	1.97;1.97	0.719	-1.44	0.08856	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15609	0.0376	L	0.42008	1.315	0.09310	N	0.999999	P;P	0.44946	0.454;0.846	B;B	0.44224	0.133;0.444	T	0.13469	-1.0508	9	0.21014	T	0.42	.	3.3157	0.07032	0.0:0.2251:0.3493:0.4255	.	152;238	B3KP94;Q96BR6	.;ZN669_HUMAN	I	152;152;238	ENSP00000404370:R152I;ENSP00000342818:R238I	ENSP00000342818:R238I	R	-	2	0	ZNF669	245330981	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.178000	0.09782	-1.714000	0.01390	-1.436000	0.01078	AGA		PASS	0.368	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098394.4	NM_024804		20	209	20	209	---	---	---	---
OR14C36	127066	broad.mit.edu	37	1	248512354	248512354	+	Missense_Mutation	SNP	C	C	A	rs145207343		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr1:248512354C>A	ENST00000317861.1	+	1	278	c.278C>A	c.(277-279)gCg>gAg	p.A93E		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A93E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ATTTCTAAGGCGGGATGTGTA	0.473																																						uc010pzl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(277-279)GCG>GAG		olfactory receptor, family 14, subfamily C,							105.0	91.0	96.0					1																	248512354		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512354C>A	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.278C>A	1.37:g.248512354C>A	ENSP00000324534:p.Ala93Glu						p.A93E	NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN			1	278	+			93			Extracellular (Potential).		Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.278C>A	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404928	0.62288	.	.	ENSG00000177174	ENST00000317861	T	0.03212	4.01	3.9	-1.11	0.09840	GPCR, rhodopsin-like superfamily (1);	1.156850	0.06760	N	0.781614	T	0.04272	0.0118	L	0.38692	1.165	0.09310	N	1	D	0.54047	0.964	P	0.52672	0.706	T	0.28996	-1.0026	10	0.02654	T	1	.	2.7427	0.05258	0.1175:0.4615:0.2007:0.2202	.	93	Q8NHC7	O14CZ_HUMAN	E	93	ENSP00000324534:A93E	ENSP00000324534:A93E	A	+	2	0	OR14C36	246578977	0.000000	0.05858	0.000000	0.03702	0.766000	0.43426	-1.313000	0.02718	0.184000	0.20083	0.395000	0.25975	GCG		PASS	0.473	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		3	96	3	96	---	---	---	---
OR14I1	401994	broad.mit.edu	37	1	248845350	248845350	+	Missense_Mutation	SNP	G	G	C	rs541897296		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr1:248845350G>C	ENST00000342623.3	-	1	279	c.256C>G	c.(256-258)Cgc>Ggc	p.R86G		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R86G(1)|p.R86C(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GAGCTTCTGCGAGTCAGGGAG	0.468																																						uc001ieu.1																			2	Substitution - Missense(2)		lung(1)|breast(1)		0						c.(256-258)CGC>GGC		olfactory receptor, family 14, subfamily I,							114.0	98.0	104.0					1																	248845350		2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845350G>C		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.256C>G	1.37:g.248845350G>C	ENSP00000339726:p.Arg86Gly						p.R86G	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			1	256	-			86			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000342623.3	37	c.256C>G	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	6.270	0.417925	0.11870	.	.	ENSG00000189181	ENST00000342623	T	0.01335	5.0	3.48	-4.04	0.04010	GPCR, rhodopsin-like superfamily (1);	0.655790	0.13134	N	0.411204	T	0.00524	0.0017	N	0.01446	-0.86	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44050	-0.9353	10	0.06757	T	0.87	.	7.3776	0.26837	0.0:0.3907:0.2126:0.3967	.	86	A6ND48	O14I1_HUMAN	G	86	ENSP00000339726:R86G	ENSP00000339726:R86G	R	-	1	0	OR14I1	246911973	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.367000	0.07553	-0.602000	0.05775	-0.267000	0.10333	CGC		PASS	0.468	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		10	34	10	34	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1906860	1906860	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr2:1906860T>C	ENST00000399161.2	-	14	2771	c.2024A>G	c.(2023-2025)tAt>tGt	p.Y675C	MYT1L_ENST00000428368.2_Missense_Mutation_p.Y673C	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	675					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Y675C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCATCATCATATCCTTTGGG	0.438																																						uc002qxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(2023-2025)TAT>TGT		myelin transcription factor 1-like							156.0	148.0	151.0					2																	1906860		1988	4152	6140	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1906860T>C	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2024A>G	2.37:g.1906860T>C	ENSP00000382114:p.Tyr675Cys					MYT1L_uc002qxd.2_Missense_Mutation_p.Y673C|MYT1L_uc010ewl.1_Intron	p.Y675C	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	14	2851	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	675					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.2024A>G		.	.	.	.	.	.	.	.	.	.	T	18.14	3.558338	0.65538	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.53640	0.61;0.61	5.45	3.03	0.35002	Myelin transcription factor 1 (1);	0.163852	0.56097	D	0.000029	T	0.55561	0.1928	L	0.57536	1.79	0.58432	D	0.999992	D;D	0.67145	0.996;0.993	P;P	0.59761	0.863;0.724	T	0.53995	-0.8359	10	0.72032	D	0.01	-5.4261	7.3283	0.26567	0.129:0.0702:0.0:0.8008	.	675;673	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	C	675;621;673	ENSP00000382114:Y675C;ENSP00000396103:Y673C	ENSP00000295067:Y621C	Y	-	2	0	MYT1L	1885867	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.122000	0.50446	0.363000	0.24346	0.459000	0.35465	TAT		PASS	0.438	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		8	119	8	119	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8871135	8871135	+	Silent	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr2:8871135G>A	ENST00000256707.3	-	30	5212	c.5031C>T	c.(5029-5031)aaC>aaT	p.N1677N	KIDINS220_ENST00000427284.1_Silent_p.N1658N|KIDINS220_ENST00000418530.1_Silent_p.N1578N|KIDINS220_ENST00000473731.1_Silent_p.N1658N	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1677					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.N1677N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGGGAGTTCGGTTCAGGTTGT	0.488																																						uc002qzc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(5029-5031)AAC>AAT		kinase D-interacting substrate of 220 kDa							103.0	96.0	98.0					2																	8871135		1943	4154	6097	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8871135G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.5031C>T	2.37:g.8871135G>A						KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Silent_p.N1578N|KIDINS220_uc002qzb.2_Silent_p.N531N	p.N1677N	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			30	5213	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1677			Cytoplasmic (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.5031C>T	CCDS42650.1																																																																																				PASS	0.488	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		8	102	8	102	---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20462982	20462982	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr2:20462982C>G	ENST00000361078.2	-	13	2219	c.2197G>C	c.(2197-2199)Gag>Cag	p.E733Q	PUM2_ENST00000338086.5_Missense_Mutation_p.E733Q|PUM2_ENST00000319801.5_Missense_Mutation_p.E654Q|PUM2_ENST00000536417.1_Missense_Mutation_p.E677Q|PUM2_ENST00000403432.1_Missense_Mutation_p.E733Q			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	733	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.E733Q(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGAAAACTCAACTATATGT	0.368																																						uc002rds.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2197-2199)GAG>CAG		pumilio homolog 2							61.0	63.0	62.0					2																	20462982		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20462982C>G	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2197G>C	2.37:g.20462982C>G	ENSP00000354370:p.Glu733Gln					PUM2_uc002rdq.1_Missense_Mutation_p.E110Q|PUM2_uc002rdt.1_Missense_Mutation_p.E733Q|PUM2_uc002rdr.2_Missense_Mutation_p.E593Q|PUM2_uc010yjy.1_Missense_Mutation_p.E654Q|PUM2_uc002rdu.1_Missense_Mutation_p.E733Q|PUM2_uc010yjz.1_Missense_Mutation_p.E672Q	p.E733Q	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN			13	2220	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		733			Pumilio 1.|PUM-HD.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.2197G>C		.	.	.	.	.	.	.	.	.	.	C	31	5.085131	0.94100	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	M	0.88377	2.95	0.80722	D	1	D;D;D;D	0.89917	0.996;0.995;0.997;1.0	D;D;D;D	0.85130	0.941;0.937;0.952;0.997	T	0.58769	-0.7578	10	0.72032	D	0.01	-8.5213	19.8505	0.96738	0.0:1.0:0.0:0.0	.	677;654;733;733	B4E2B6;B7ZL34;Q8TB72-3;Q8TB72	.;.;.;PUM2_HUMAN	Q	733;733;654;545;733;677	ENSP00000338173:E733Q;ENSP00000354370:E733Q;ENSP00000326746:E654Q;ENSP00000409905:E545Q;ENSP00000385992:E733Q;ENSP00000440093:E677Q	ENSP00000326746:E654Q	E	-	1	0	PUM2	20326463	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.688000	0.91661	0.655000	0.94253	GAG		PASS	0.368	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		8	73	8	73	---	---	---	---
ZNF513	130557	broad.mit.edu	37	2	27602971	27602971	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr2:27602971C>G	ENST00000323703.6	-	2	398	c.200G>C	c.(199-201)aGa>aCa	p.R67T	ZNF513_ENST00000407879.1_Missense_Mutation_p.R5T|ZNF513_ENST00000491924.1_5'Flank	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	67	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.R67T(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCGAGTCTCTCTCGAAGCC	0.552																																						uc002rkk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(199-201)AGA>ACA		zinc finger protein 513							136.0	137.0	137.0					2																	27602971		2203	4300	6503	SO:0001583	missense	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27602971C>G	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.200G>C	2.37:g.27602971C>G	ENSP00000318373:p.Arg67Thr					ZNF513_uc002rkj.2_Missense_Mutation_p.R5T	p.R67T	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN			2	400	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		67			Gly-rich.		A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	c.200G>C	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947025	0.53186	.	.	ENSG00000163795	ENST00000323703;ENST00000407879;ENST00000436006	T;T;T	0.60548	3.19;3.24;0.18	4.29	4.29	0.51040	.	0.000000	0.51477	D	0.000087	T	0.36799	0.0980	N	0.14661	0.345	0.31460	N	0.669625	B	0.26081	0.141	B	0.17722	0.019	T	0.37549	-0.9701	10	0.23302	T	0.38	-6.0242	12.1265	0.53920	0.0:1.0:0.0:0.0	.	67	Q8N8E2	ZN513_HUMAN	T	67;5;5	ENSP00000318373:R67T;ENSP00000384874:R5T;ENSP00000394226:R5T	ENSP00000318373:R67T	R	-	2	0	ZNF513	27456475	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.806000	0.55583	2.233000	0.73108	0.555000	0.69702	AGA		PASS	0.552	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		21	429	21	429	---	---	---	---
LRPPRC	10128	broad.mit.edu	37	2	44153051	44153051	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr2:44153051C>T	ENST00000260665.7	-	26	2843	c.2786G>A	c.(2785-2787)aGa>aAa	p.R929K		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	929					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.R929K(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCAACACATCTGTCACAAAA	0.408																																						uc002rtr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2785-2787)AGA>AAA		leucine-rich PPR motif-containing protein							118.0	109.0	112.0					2																	44153051		2203	4300	6503	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44153051C>T	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2786G>A	2.37:g.44153051C>T	ENSP00000260665:p.Arg929Lys					LRPPRC_uc010yob.1_Missense_Mutation_p.R829K	p.R929K	NM_133259	NP_573566	P42704	LPPRC_HUMAN			26	2844	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	929					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.2786G>A	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	C	0.661	-0.805813	0.02819	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.12774	2.65	5.59	1.82	0.25136	Tetratricopeptide-like helical (1);	0.337134	0.35436	N	0.003219	T	0.07007	0.0178	N	0.19112	0.55	0.18873	N	0.999987	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.004	T	0.43589	-0.9382	10	0.02654	T	1	-11.0724	11.2824	0.49203	0.0:0.61:0.0:0.39	.	829;929	F5H4J6;P42704	.;LPPRC_HUMAN	K	829;929	ENSP00000260665:R929K	ENSP00000260665:R929K	R	-	2	0	LRPPRC	44006555	0.422000	0.25473	0.005000	0.12908	0.150000	0.21749	0.044000	0.13992	-0.060000	0.13132	-1.936000	0.00505	AGA		PASS	0.408	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		63	105	63	105	---	---	---	---
SLC3A1	6519	broad.mit.edu	37	2	44547771	44547771	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr2:44547771C>T	ENST00000260649.6	+	10	2127	c.2051C>T	c.(2050-2052)tCg>tTg	p.S684L	SLC3A1_ENST00000409380.1_Missense_Mutation_p.S406L|SLC3A1_ENST00000409740.3_Missense_Mutation_p.S315L|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409957.1_3'UTR	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	684					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)	p.S684L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CTGTATACCTCGTGTTAGGCA	0.413																																						uc002ruc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2050-2052)TCG>TTG		solute carrier family 3, member 1	L-Cystine(DB00138)						63.0	53.0	56.0					2																	44547771		2202	4299	6501	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44547771C>T		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.2051C>T	2.37:g.44547771C>T	ENSP00000260649:p.Ser684Leu					PREPL_uc002ruf.2_3'UTR|PREPL_uc002rug.2_3'UTR|PREPL_uc002ruh.2_3'UTR|PREPL_uc010fax.2_3'UTR|PREPL_uc002rui.3_3'UTR|PREPL_uc002ruj.1_3'UTR|PREPL_uc002ruk.1_3'UTR|SLC3A1_uc002rud.3_Missense_Mutation_p.S406L|SLC3A1_uc002rue.3_Missense_Mutation_p.S304L	p.S684L	NM_000341	NP_000332	Q07837	SLC31_HUMAN			10	2129	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	684			Extracellular (Potential).		A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.2051C>T	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	C	5.218	0.225647	0.09916	.	.	ENSG00000138079	ENST00000260649;ENST00000540334;ENST00000409380;ENST00000409740	D;D;D	0.99070	-5.39;-4.81;-4.47	5.99	-2.82	0.05787	.	0.860160	0.10651	N	0.649848	D	0.94036	0.8089	N	0.11818	0.18	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	D	0.89744	0.3935	10	0.12766	T	0.61	0.2662	6.6022	0.22707	0.1203:0.5423:0.0922:0.2453	.	684	Q07837	SLC31_HUMAN	L	684;620;406;315	ENSP00000260649:S684L;ENSP00000386709:S406L;ENSP00000386677:S315L	ENSP00000260649:S684L	S	+	2	0	SLC3A1	44401275	0.001000	0.12720	0.077000	0.20336	0.433000	0.31745	0.168000	0.16622	-0.368000	0.08040	-0.302000	0.09304	TCG		PASS	0.413	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		7	112	7	112	---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54147333	54147333	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr2:54147333G>A	ENST00000404125.1	-	19	2472	c.2417C>T	c.(2416-2418)tCt>tTt	p.S806F	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	806					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)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.S692F(1)|p.S806F(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AACCAACCTAGACATTTCAAG	0.353																																						uc002rxp.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(2416-2418)TCT>TTT		proteasome (prosome, macropain) activator							135.0	158.0	150.0					2																	54147333		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54147333G>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2417C>T	2.37:g.54147333G>A	ENSP00000384211:p.Ser806Phe					PSME4_uc010yop.1_Missense_Mutation_p.S692F|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.S181F|PSME4_uc010fbv.1_Intron	p.S806F	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		19	2473	-			806					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.2417C>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383718	0.82792	.	.	ENSG00000068878	ENST00000404125	T	0.24538	1.85	5.44	5.44	0.79542	.	0.109676	0.64402	D	0.000004	T	0.46054	0.1373	M	0.74258	2.255	0.80722	D	1	D;D	0.64830	0.994;0.96	P;P	0.59595	0.86;0.681	T	0.37150	-0.9718	10	0.09338	T	0.73	.	19.2451	0.93899	0.0:0.0:1.0:0.0	.	181;806	Q14997-2;Q14997	.;PSME4_HUMAN	F	806	ENSP00000384211:S806F	ENSP00000384211:S806F	S	-	2	0	PSME4	54000837	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.538000	0.73852	2.542000	0.85734	0.650000	0.86243	TCT		PASS	0.353	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		96	364	96	364	---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54147371	54147371	+	Silent	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr2:54147371G>C	ENST00000404125.1	-	19	2434	c.2379C>G	c.(2377-2379)gtC>gtG	p.V793V	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	793					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)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.V793V(1)|p.V679V(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCTGGAGTTTGACGAGCTCAG	0.403																																						uc002rxp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(2377-2379)GTC>GTG		proteasome (prosome, macropain) activator							153.0	171.0	165.0					2																	54147371		2203	4300	6503	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54147371G>C	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2379C>G	2.37:g.54147371G>C						PSME4_uc010yop.1_Silent_p.V679V|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.V168V|PSME4_uc010fbv.1_Intron	p.V793V	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		19	2435	-			793					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.2379C>G	CCDS33197.2																																																																																				PASS	0.403	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		91	357	91	357	---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54147429	54147429	+	Missense_Mutation	SNP	G	G	A	rs377459628		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr2:54147429G>A	ENST00000404125.1	-	19	2376	c.2321C>T	c.(2320-2322)tCa>tTa	p.S774L	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	774					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)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.S660L(1)|p.S774L(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CACTTCTTCTGAAGAAGGAAC	0.453																																						uc002rxp.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(2320-2322)TCA>TTA		proteasome (prosome, macropain) activator		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	121.0	128.0	126.0		2321	1.2	0.1	2		126	0,8600		0,0,4300	no	missense	PSME4	NM_014614.2	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	774/1844	54147429	1,13005	2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54147429G>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2321C>T	2.37:g.54147429G>A	ENSP00000384211:p.Ser774Leu					PSME4_uc010yop.1_Missense_Mutation_p.S660L|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.S149L|PSME4_uc010fbv.1_Intron	p.S774L	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		19	2377	-			774					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.2321C>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332650	0.24167	2.27E-4	0.0	ENSG00000068878	ENST00000404125	T	0.23552	1.9	5.72	1.17	0.20885	.	0.842730	0.10917	N	0.619887	T	0.13756	0.0333	N	0.04959	-0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.26608	-1.0098	10	0.39692	T	0.17	.	12.9326	0.58294	0.06:0.0:0.6407:0.2993	.	149;774	Q14997-2;Q14997	.;PSME4_HUMAN	L	774	ENSP00000384211:S774L	ENSP00000384211:S774L	S	-	2	0	PSME4	54000933	0.982000	0.34865	0.108000	0.21378	0.902000	0.53008	3.728000	0.54991	0.044000	0.15775	-0.813000	0.03139	TCA		PASS	0.453	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		76	209	76	209	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61463362	61463362	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr2:61463362C>A	ENST00000398571.2	-	55	6928	c.6852G>T	c.(6850-6852)tgG>tgT	p.W2284C		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2284					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.W2284C(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TACACAATTGCCACATAAATC	0.269																																						uc002sbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(6850-6852)TGG>TGT		ubiquitin specific protease 34							39.0	36.0	37.0					2																	61463362		1798	4034	5832	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61463362C>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.6852G>T	2.37:g.61463362C>A	ENSP00000381577:p.Trp2284Cys					USP34_uc002sbf.2_Missense_Mutation_p.W434C	p.W2284C	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		55	6874	-			2284					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.6852G>T	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.265249|4.265249	0.80358|0.80358	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000411912|ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	.|T;T	.|0.03951	.|3.87;3.75	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.09730|0.09730	0.0239|0.0239	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|B	.|0.17465	.|0.022	.|B	.|0.20767	.|0.031	T|T	0.06215|0.06215	-1.0839|-1.0839	5|10	.|0.72032	.|D	.|0.01	.|.	19.8751|19.8751	0.96867|0.96867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2284	.|Q70CQ2	.|UBP34_HUMAN	S|C	44|2132;2132;2284;562	.|ENSP00000381577:W2284C;ENSP00000410559:W562C	.|ENSP00000263989:W2132C	A|W	-|-	1|3	0|0	USP34|USP34	61316866|61316866	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.695000|2.695000	0.91970|0.91970	0.655000|0.655000	0.94253|0.94253	GCA|TGG		PASS	0.269	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			18	118	18	118	---	---	---	---
C2orf78	388960	broad.mit.edu	37	2	74043451	74043451	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr2:74043451G>C	ENST00000409561.1	+	3	2222	c.2101G>C	c.(2101-2103)Gag>Cag	p.E701Q		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	701								p.E701Q(1)|p.E671Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGCTGAAAAAGAGTGTACATC	0.493																																						uc002sjr.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2101-2103)GAG>CAG		hypothetical protein LOC388960							108.0	110.0	109.0					2																	74043451		1991	4161	6152	SO:0001583	missense	388960							g.chr2:74043451G>C	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2101G>C	2.37:g.74043451G>C	ENSP00000387124:p.Glu701Gln						p.E701Q	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			3	2222	+			701						Missense_Mutation	SNP	ENST00000409561.1	37	c.2101G>C	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	G	2.752	-0.259763	0.05791	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.53857	0.6	4.71	-2.52	0.06346	.	0.883066	0.09536	N	0.788843	T	0.39145	0.1067	L	0.37561	1.115	0.09310	N	1	B	0.27351	0.176	B	0.24541	0.054	T	0.25502	-1.0130	10	0.27785	T	0.31	-2.9906	12.4109	0.55466	0.0:0.6388:0.2308:0.1304	.	701	A6NCI8	CB078_HUMAN	Q	701;671	ENSP00000387124:E701Q	ENSP00000340692:E671Q	E	+	1	0	C2orf78	73896959	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	0.038000	0.13862	-0.237000	0.09739	-0.257000	0.10917	GAG		PASS	0.493	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		12	93	12	93	---	---	---	---
RNF149	284996	broad.mit.edu	37	2	101924926	101924926	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr2:101924926A>G	ENST00000295317.3	-	1	232	c.125T>C	c.(124-126)gTa>gCa	p.V42A	MIR5696_ENST00000578474.1_RNA	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	42					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V42A(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						CTCGATGTTTACCACGGCCGA	0.711																																					Colon(25;331 612 6521 7355 31028)	uc002taz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(124-126)GTA>GCA		ring finger protein 149 precursor							24.0	30.0	28.0					2																	101924926		2194	4295	6489	SO:0001583	missense	284996					integral to membrane	ligase activity|zinc ion binding	g.chr2:101924926A>G	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.125T>C	2.37:g.101924926A>G	ENSP00000295317:p.Val42Ala					RNF149_uc002tax.1_RNA	p.V42A	NM_173647	NP_775918	Q8NC42	RN149_HUMAN			1	227	-			42					Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	c.125T>C	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.571338	0.86542	.	.	ENSG00000163162	ENST00000295317	T	0.14144	2.53	4.07	4.07	0.47477	.	0.000000	0.47455	U	0.000224	T	0.33904	0.0879	M	0.67625	2.065	0.58432	D	0.999992	D	0.76494	0.999	D	0.76071	0.987	T	0.10405	-1.0631	10	0.87932	D	0	.	12.7051	0.57056	1.0:0.0:0.0:0.0	.	42	Q8NC42	RN149_HUMAN	A	42	ENSP00000295317:V42A	ENSP00000295317:V42A	V	-	2	0	RNF149	101291358	1.000000	0.71417	0.540000	0.28089	0.612000	0.37316	7.808000	0.86044	1.470000	0.48102	0.254000	0.18369	GTA		PASS	0.711	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		12	69	12	69	---	---	---	---
IL37	27178	broad.mit.edu	37	2	113676149	113676149	+	Silent	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr2:113676149G>A	ENST00000263326.3	+	5	462	c.420G>A	c.(418-420)ctG>ctA	p.L140L	IL37_ENST00000311328.2_Silent_p.L114L|IL37_ENST00000352179.3_Silent_p.L119L|IL37_ENST00000353225.3_Silent_p.L100L|IL37_ENST00000349806.3_Silent_p.L79L	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	140					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)	p.L140L(1)|p.L114L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						AGGAGAAACTGATGAAGCTGG	0.527																																						uc002tij.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(418-420)CTG>CTA		interleukin 1 family, member 7 isoform 1							47.0	52.0	50.0					2																	113676149		2203	4300	6503	SO:0001819	synonymous_variant	27178				immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding	g.chr2:113676149G>A	AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"""Interleukins and interleukin receptors"""	15563	protein-coding gene	gene with protein product	"""interleukin 1, zeta"", ""interleukin-1 homolog 4"", ""interleukin-1-related protein"""	605510	"""interleukin 1 family, member 7 (zeta)"""	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.420G>A	2.37:g.113676149G>A						IL1F7_uc002tik.2_Silent_p.L119L|IL1F7_uc002til.2_Silent_p.L100L|IL1F7_uc002tim.2_Silent_p.L79L|IL1F7_uc002tin.2_Silent_p.L114L	p.L140L	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN			5	462	+			140					B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Silent	SNP	ENST00000263326.3	37	c.420G>A	CCDS2103.1																																																																																				PASS	0.527	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254126.1	NM_014439		7	111	7	111	---	---	---	---
CLASP1	23332	broad.mit.edu	37	2	122106203	122106203	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr2:122106203G>A	ENST00000263710.4	-	38	4687	c.4298C>T	c.(4297-4299)aCg>aTg	p.T1433M	CLASP1_ENST00000545861.1_Missense_Mutation_p.T1140M|CLASP1_ENST00000541859.1_Missense_Mutation_p.T1150M|CLASP1_ENST00000455322.2_Missense_Mutation_p.T1389M|CLASP1_ENST00000541377.1_Missense_Mutation_p.T1372M|CLASP1_ENST00000409078.3_Missense_Mutation_p.T1366M|CLASP1_ENST00000397587.3_Missense_Mutation_p.T1373M	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1433	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				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)	p.T1433M(1)		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)					GTAGTCGGCCGTCTGGATGAT	0.577																																						uc002tnc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(4297-4299)ACG>ATG		CLIP-associating protein 1 isoform 1							88.0	104.0	99.0					2																	122106203		2176	4278	6454	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.chr2:122106203G>A	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.4298C>T	2.37:g.122106203G>A	ENSP00000263710:p.Thr1433Met					CLASP1_uc010yyv.1_Missense_Mutation_p.T479M|CLASP1_uc002tmz.2_Missense_Mutation_p.T518M|CLASP1_uc002tna.2_Missense_Mutation_p.T479M|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.T1374M|CLASP1_uc010yza.1_Missense_Mutation_p.T1366M|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tmy.2_Missense_Mutation_p.T269M	p.T1433M	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN			37	4688	-	Renal(3;0.0496)		1433			Localization to kinetochores.|Interaction with PHLDB2 and RSN.|Interaction with CLIP2 (By similarity).		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.4298C>T		.	.	.	.	.	.	.	.	.	.	G	26.9	4.783358	0.90282	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	4.72	4.72	0.59763	Armadillo-like helical (1);Armadillo-type fold (1);	0.096092	0.64402	D	0.000001	T	0.80879	0.4708	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.95;0.999;0.967	D	0.83652	0.0156	10	0.87932	D	0	-3.1149	17.6528	0.88169	0.0:0.0:1.0:0.0	.	1366;1373;1433	E7EUA5;F5GWS0;Q7Z460	.;.;CLAP1_HUMAN	M	1433;1389;1373;1372;1150;1366;1140	ENSP00000263710:T1433M;ENSP00000389372:T1389M;ENSP00000380717:T1373M;ENSP00000441625:T1372M;ENSP00000441770:T1150M;ENSP00000386442:T1366M;ENSP00000438620:T1140M	ENSP00000263710:T1433M	T	-	2	0	CLASP1	121822673	1.000000	0.71417	0.973000	0.42090	0.991000	0.79684	9.496000	0.97967	2.166000	0.68216	0.462000	0.41574	ACG		PASS	0.577	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		5	38	5	38	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138414670	138414670	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr2:138414670C>A	ENST00000409968.1	+	24	4493	c.4315C>A	c.(4315-4317)Ctt>Att	p.L1439I	THSD7B_ENST00000413152.2_Missense_Mutation_p.L1411I|THSD7B_ENST00000543459.1_Silent_p.V273V|THSD7B_ENST00000272643.3_Missense_Mutation_p.L1442I			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1441						integral component of membrane (GO:0016021)		p.L1442I(1)|p.L1411I(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAAAGCAAGTCTTTGGAACAA	0.398																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(4228-4230)CTT>ATT		thrombospondin, type I, domain containing 7B							122.0	120.0	121.0					2																	138414670		1945	4151	6096	SO:0001583	missense	80731							g.chr2:138414670C>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4315C>A	2.37:g.138414670C>A	ENSP00000387145:p.Leu1439Ile					THSD7B_uc010zbj.1_RNA	p.L1410I	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	23	4228	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.4228C>A		.	.	.	.	.	.	.	.	.	.	C	16.52	3.145147	0.57044	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.23348	2.43;2.3;1.91	6.13	6.13	0.99165	.	0.176553	0.51477	D	0.000088	T	0.33702	0.0872	L	0.44542	1.39	0.80722	D	1	P	0.52316	0.952	P	0.50791	0.65	T	0.00411	-1.1756	10	0.38643	T	0.18	.	16.2435	0.82429	0.0:0.8682:0.1318:0.0	.	1411	C9JKN6	.	I	1439;1442;1411	ENSP00000387145:L1439I;ENSP00000272643:L1442I;ENSP00000413841:L1411I	ENSP00000272643:L1442I	L	+	1	0	THSD7B	138131140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.854000	0.55949	2.937000	0.99478	0.650000	0.86243	CTT		PASS	0.398	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		8	90	8	90	---	---	---	---
RBM43	375287	broad.mit.edu	37	2	152107863	152107863	+	Missense_Mutation	SNP	G	G	A	rs559120361		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr2:152107863G>A	ENST00000331426.5	-	4	782	c.631C>T	c.(631-633)Cct>Tct	p.P211S		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	211							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.P211S(1)		endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		GCAGTCTCAGGTACTAAGGTC	0.393																																						uc002txh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(631-633)CCT>TCT		RNA binding motif protein 43							129.0	126.0	127.0					2																	152107863		2203	4300	6503	SO:0001583	missense	375287						nucleotide binding|RNA binding	g.chr2:152107863G>A	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.631C>T	2.37:g.152107863G>A	ENSP00000331211:p.Pro211Ser						p.P211S	NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	4	779	-			211					B2RMT5	Missense_Mutation	SNP	ENST00000331426.5	37	c.631C>T	CCDS2191.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841831	0.51057	.	.	ENSG00000184898	ENST00000331426	T	0.45668	0.89	5.38	3.56	0.40772	.	0.342170	0.26286	N	0.025246	T	0.24005	0.0581	L	0.32530	0.975	0.20926	N	0.99983	P	0.43287	0.802	B	0.32928	0.155	T	0.09840	-1.0656	10	0.19590	T	0.45	-5.0595	8.9614	0.35849	0.079:0.148:0.7729:0.0	.	211	Q6ZSC3	RBM43_HUMAN	S	211	ENSP00000331211:P211S	ENSP00000331211:P211S	P	-	1	0	RBM43	151816109	0.010000	0.17322	0.029000	0.17559	0.120000	0.20174	1.223000	0.32527	0.807000	0.34208	0.655000	0.94253	CCT		PASS	0.393	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557		13	156	13	156	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179425453	179425453	+	Missense_Mutation	SNP	G	G	C	rs202040332	byFrequency	TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr2:179425453G>C	ENST00000591111.1	-	276	80707	c.80483C>G	c.(80482-80484)tCt>tGt	p.S26828C	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S28469C|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S25901C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S19529C|TTN_ENST00000460472.2_Missense_Mutation_p.S19404C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S19596C|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26828	Fibronectin type-III 95. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S19529C(1)|p.S25901C(1)|p.S19404C(1)|p.S25899C(1)|p.S19596C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGGAAAGAGAGCATTTCTC	0.483													G|||	5	0.000998403	0.0	0.0	5008	,	,		22303	0.003		0.001	False		,,,				2504	0.001					uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(77701-77703)TCT>TGT		titin isoform N2-A		G	CYS/SER,CYS/SER,CYS/SER,CYS/SER	0,3884		0,0,1942	56.0	55.0	55.0		58211,77702,58586,58787	6.0	1.0	2		55	1,8299		0,1,4149	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	112,112,112,112	0,1,6091	CC,CG,GG		0.012,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging	19404/26927,25901/33424,19529/27052,19596/27119	179425453	1,12183	1942	4150	6092	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425453G>C	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.80483C>G	2.37:g.179425453G>C	ENSP00000465570:p.Ser26828Cys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S19596C|TTN_uc010zfi.1_Missense_Mutation_p.S19529C|TTN_uc010zfj.1_Missense_Mutation_p.S19404C	p.S25901C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	77926	-			26828					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.77702C>G		.	.	.	.	.	.	.	.	.	.	G	12.35	1.912920	0.33815	0.0	1.2E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.97	5.97	0.96955	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65312	0.2679	L	0.35341	1.055	0.32198	N	0.57814	D;D;D;D	0.69078	0.997;0.997;0.997;0.994	D;D;D;P	0.63113	0.911;0.911;0.911;0.873	T	0.70766	-0.4783	9	0.87932	D	0	.	15.0644	0.71983	0.0:0.0:0.8251:0.1749	.	19404;19529;19596;26828	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	25901;19404;19596;19529;19402	ENSP00000343764:S25901C;ENSP00000434586:S19404C;ENSP00000340554:S19596C;ENSP00000352154:S19529C	ENSP00000340554:S19596C	S	-	2	0	TTN	179133699	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.395000	0.59678	2.836000	0.97738	0.655000	0.94253	TCT		PASS	0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	57	17	57	---	---	---	---
GMPPA	29926	broad.mit.edu	37	2	220371039	220371039	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr2:220371039G>T	ENST00000358215.3	+	12	1426	c.1057G>T	c.(1057-1059)Gtg>Ttg	p.V353L	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.V353L|GMPPA_ENST00000313597.5_Missense_Mutation_p.V353L|GMPPA_ENST00000373917.3_Missense_Mutation_p.V406L|GMPPA_ENST00000341142.3_Missense_Mutation_p.V353L	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	353					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)	p.V353L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CTGGGCCCGCGTGGAGGGTAC	0.622																																						uc002vlr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1057-1059)GTG>TTG		GDP-mannose pyrophosphorylase A							71.0	71.0	71.0					2																	220371039		2203	4300	6503	SO:0001583	missense	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220371039G>T	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.1057G>T	2.37:g.220371039G>T	ENSP00000350949:p.Val353Leu					GMPPA_uc002vls.2_Missense_Mutation_p.V353L|GMPPA_uc002vlt.2_Missense_Mutation_p.V406L|GMPPA_uc002vlu.2_Missense_Mutation_p.V406L|GMPPA_uc002vlv.2_Missense_Mutation_p.V353L|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.V353L	p.V353L	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	12	1125	+		Renal(207;0.0183)	353					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.1057G>T	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	G	35	5.502184	0.96371	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000341142	T;T;T;T;T	0.25414	1.8;1.88;1.8;1.8;1.8	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.41581	0.1165	L	0.41906	1.305	0.80722	D	1	D;D	0.69078	0.997;0.997	D;P	0.70487	0.969;0.882	T	0.20107	-1.0285	10	0.39692	T	0.17	-40.2794	16.8215	0.85747	0.0:0.0:1.0:0.0	.	406;353	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	L	353;406;353;353;353	ENSP00000315925:V353L;ENSP00000363027:V406L;ENSP00000350949:V353L;ENSP00000363016:V353L;ENSP00000340760:V353L	ENSP00000315925:V353L	V	+	1	0	GMPPA	220079283	1.000000	0.71417	0.953000	0.39169	0.971000	0.66376	9.690000	0.98676	2.039000	0.60335	0.557000	0.71058	GTG		PASS	0.622	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		35	108	35	108	---	---	---	---
CHPF	79586	broad.mit.edu	37	2	220404238	220404238	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr2:220404238C>T	ENST00000243776.6	-	4	2443	c.2195G>A	c.(2194-2196)cGg>cAg	p.R732Q	CHPF_ENST00000535926.1_Missense_Mutation_p.R570Q	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	732					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.R732Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CGTCTGGGCCCGGTAGCGCTG	0.667																																						uc002vmc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2194-2196)CGG>CAG		chondroitin polymerizing factor							43.0	41.0	42.0					2																	220404238		2203	4299	6502	SO:0001583	missense	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220404238C>T	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.2195G>A	2.37:g.220404238C>T	ENSP00000243776:p.Arg732Gln					CHPF_uc010zlh.1_Missense_Mutation_p.R570Q	p.R732Q	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	2422	-		Renal(207;0.0183)	732			Lumenal (Potential).		B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	c.2195G>A	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497929	0.44455	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.15834	2.39;2.39	4.57	4.57	0.56435	.	0.276622	0.32106	N	0.006565	T	0.18383	0.0441	L	0.53249	1.67	0.34668	D	0.723389	P	0.35208	0.49	B	0.31946	0.138	T	0.21724	-1.0237	10	0.23891	T	0.37	-33.9496	17.9229	0.88973	0.0:1.0:0.0:0.0	.	732	Q8IZ52	CHSS2_HUMAN	Q	732;570	ENSP00000243776:R732Q;ENSP00000445571:R570Q	ENSP00000243776:R732Q	R	-	2	0	CHPF	220112482	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	2.970000	0.49240	2.544000	0.85801	0.561000	0.74099	CGG		PASS	0.667	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		4	58	4	58	---	---	---	---
ANKMY1	51281	broad.mit.edu	37	2	241468504	241468504	+	Silent	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr2:241468504G>A	ENST00000272972.3	-	4	850	c.636C>T	c.(634-636)atC>atT	p.I212I	ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000401804.1_Silent_p.I301I|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000391987.1_Silent_p.I212I|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000462004.1_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	212							metal ion binding (GO:0046872)	p.I212I(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGGTCTCATTGATTATGAACC	0.507																																						uc002vyz.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(634-636)ATC>ATT		ankyrin repeat and MYND domain containing 1							158.0	159.0	159.0					2																	241468504		2203	4300	6503	SO:0001819	synonymous_variant	51281						zinc ion binding	g.chr2:241468504G>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.636C>T	2.37:g.241468504G>A						ANKMY1_uc002vza.1_Intron|ANKMY1_uc010fzd.1_Silent_p.I301I|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Intron	p.I212I	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	4	865	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	212					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	c.636C>T	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	G	0.093	-1.164081	0.01673	.	.	ENSG00000144504	ENST00000443318	.	.	.	4.26	-8.52	0.00920	.	.	.	.	.	.	.	.	.	.	.	0.23930	N	0.99643	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.2328	10.1331	0.42691	0.0:0.299:0.5418:0.1591	.	.	.	.	X	157	.	.	Q	-	1	0	ANKMY1	241117177	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	-0.974000	0.03794	-2.231000	0.00718	-1.014000	0.02459	CAA		PASS	0.507	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		18	189	18	189	---	---	---	---
PDCD6IP	10015	broad.mit.edu	37	3	33906918	33906918	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr3:33906918C>T	ENST00000307296.3	+	17	2805	c.2428C>T	c.(2428-2430)Cct>Tct	p.P810S	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.P815S			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	810	Interaction with EIAV p9.|Pro-rich.|Self-association.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.P810S(1)		central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCCAGGATATCCTGGGTAAGG	0.547																																						uc003cfx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2428-2430)CCT>TCT		programmed cell death 6 interacting protein							52.0	43.0	46.0					3																	33906918		2203	4300	6503	SO:0001583	missense	10015				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	g.chr3:33906918C>T	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.2428C>T	3.37:g.33906918C>T	ENSP00000307387:p.Pro810Ser					PDCD6IP_uc003cfy.2_Missense_Mutation_p.P815S|PDCD6IP_uc011axw.1_Missense_Mutation_p.P591S	p.P810S	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN			17	2583	+			810			Pro-rich.|Interaction with EIAV p9.|Self-association.		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	c.2428C>T	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699383	0.88830	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.13657	2.57;2.57	5.71	4.83	0.62350	.	0.052302	0.85682	D	0.000000	T	0.19366	0.0465	M	0.78456	2.415	0.80722	D	1	B;B;B	0.17038	0.02;0.02;0.011	B;B;B	0.15870	0.014;0.014;0.014	T	0.02805	-1.1108	10	0.23302	T	0.38	-9.4056	14.9671	0.71201	0.0:0.9303:0.0:0.0697	.	591;815;810	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	S	810;815	ENSP00000307387:P810S;ENSP00000411825:P815S	ENSP00000307387:P810S	P	+	1	0	PDCD6IP	33881922	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.929000	0.56514	2.680000	0.91292	0.655000	0.94253	CCT		PASS	0.547	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			14	57	14	57	---	---	---	---
PLXNB1	5364	broad.mit.edu	37	3	48453313	48453313	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr3:48453313C>T	ENST00000358536.4	-	28	5475	c.5206G>A	c.(5206-5208)Gac>Aac	p.D1736N	PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000448774.2_Missense_Mutation_p.D347N|PLXNB1_ENST00000456774.1_Missense_Mutation_p.D1553N|PLXNB1_ENST00000358459.4_Missense_Mutation_p.D1553N|PLXNB1_ENST00000296440.6_Missense_Mutation_p.D1736N	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1736					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.D1736N(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGCGGTTGTCGTTCAAGGTG	0.582																																						uc003csw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(5206-5208)GAC>AAC		plexin B1 precursor							238.0	177.0	197.0					3																	48453313		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48453313C>T	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.5206G>A	3.37:g.48453313C>T	ENSP00000351338:p.Asp1736Asn					PLXNB1_uc003cst.2_Missense_Mutation_p.D186N|PLXNB1_uc003csu.2_Missense_Mutation_p.D1553N|PLXNB1_uc003csx.2_Missense_Mutation_p.D1736N	p.D1736N	NM_002673	NP_002664	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	28	5476	-			1736			Cytoplasmic (Potential).		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.5206G>A	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038971	0.93630	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	4.3	4.3	0.51218	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.050058	0.85682	D	0.000000	T	0.42291	0.1196	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.91635	0.999;0.867	T	0.50996	-0.8761	10	0.72032	D	0.01	.	15.9456	0.79789	0.0:1.0:0.0:0.0	.	1736;1553	O43157;O43157-2	PLXB1_HUMAN;.	N	1736;1553;1736;347;1553	ENSP00000296440:D1736N;ENSP00000351242:D1553N;ENSP00000351338:D1736N;ENSP00000389320:D347N;ENSP00000414199:D1553N	ENSP00000296440:D1736N	D	-	1	0	PLXNB1	48428317	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	7.597000	0.82733	2.217000	0.71921	0.561000	0.74099	GAC		PASS	0.582	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		16	135	16	135	---	---	---	---
C3orf62	375341	broad.mit.edu	37	3	49314135	49314135	+	Silent	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr3:49314135C>T	ENST00000343010.3	-	1	1207	c.171G>A	c.(169-171)tcG>tcA	p.S57S	MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	57								p.S57S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCACGGGCAGCGAGAAGGAGA	0.592																																						uc003cwn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(169-171)TCG>TCA		hypothetical protein LOC375341							52.0	55.0	54.0					3																	49314135		2203	4300	6503	SO:0001819	synonymous_variant	375341							g.chr3:49314135C>T	AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.171G>A	3.37:g.49314135C>T						C3orf62_uc003cwm.2_5'Flank	p.S57S	NM_198562	NP_940964	Q6ZUJ4	CC062_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	374	-			57					Q6P7E9|Q7Z3X6	Silent	SNP	ENST00000343010.3	37	c.171G>A	CCDS2792.1																																																																																				PASS	0.592	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1	NM_198562		7	84	7	84	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96945212	96945212	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr3:96945212G>A	ENST00000389672.5	+	4	1257	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	EPHA6_ENST00000470610.2_Missense_Mutation_p.E407K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	313	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.E313K(2)|p.E407K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTGTCAGTGTGAAAAGGGTTA	0.398																																						uc010how.1																			3	Substitution - Missense(3)		lung(3)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(1219-1221)GAA>AAA		EPH receptor A6 isoform a							162.0	155.0	157.0					3																	96945212		1842	4088	5930	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96945212G>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1219G>A	3.37:g.96945212G>A	ENSP00000374323:p.Glu407Lys					EPHA6_uc003drp.1_Missense_Mutation_p.E407K	p.E407K	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			4	1262	+			312			Extracellular (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.1219G>A	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	G	31	5.058516	0.93846	.	.	ENSG00000080224	ENST00000470610;ENST00000389672	D;D	0.97256	-4.31;-4.31	5.54	5.54	0.83059	.	.	.	.	.	D	0.95708	0.8604	M	0.75447	2.3	0.80722	D	1	P;P	0.50156	0.932;0.932	B;B	0.33960	0.173;0.173	D	0.96091	0.9061	9	0.56958	D	0.05	.	19.4868	0.95032	0.0:0.0:1.0:0.0	.	407;407	B3KS12;E7EU71	.;.	K	407	ENSP00000420598:E407K;ENSP00000374323:E407K	ENSP00000374323:E407K	E	+	1	0	EPHA6	98427902	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.912000	0.87465	2.607000	0.88179	0.460000	0.39030	GAA		PASS	0.398	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		19	259	19	259	---	---	---	---
OR5K3	403277	broad.mit.edu	37	3	98110363	98110363	+	Missense_Mutation	SNP	C	C	G	rs140041184	byFrequency	TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr3:98110363C>G	ENST00000383695.1	+	1	854	c.854C>G	c.(853-855)cCt>cGt	p.P285R	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P285R(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TTATTAAATCCTTTTATTTAT	0.294																																						uc011bgw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(853-855)CCT>CGT		olfactory receptor, family 5, subfamily K,							32.0	33.0	33.0					3																	98110363		2189	4292	6481	SO:0001583	missense	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98110363C>G		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.854C>G	3.37:g.98110363C>G	ENSP00000373194:p.Pro285Arg						p.P285R	NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN			1	854	+			285			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000383695.1	37	c.854C>G	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286243	0.59867	.	.	ENSG00000206536	ENST00000383695	T	0.64085	-0.08	4.88	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37304	N	0.002157	T	0.77935	0.4205	M	0.73319	2.225	0.36161	D	0.848128	D	0.89917	1.0	D	0.76575	0.988	D	0.84347	0.0530	10	0.87932	D	0	-43.6888	15.885	0.79241	0.0:1.0:0.0:0.0	.	285	A6NET4	OR5K3_HUMAN	R	285	ENSP00000373194:P285R	ENSP00000373194:P285R	P	+	2	0	OR5K3	99593053	0.974000	0.33945	0.998000	0.56505	0.990000	0.78478	3.457000	0.53007	2.376000	0.81061	0.603000	0.83216	CCT		PASS	0.294	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			18	80	18	80	---	---	---	---
CPOX	1371	broad.mit.edu	37	3	98311835	98311835	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr3:98311835C>T	ENST00000264193.2	-	1	732	c.514G>A	c.(514-516)Ggg>Agg	p.G172R		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	172					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)	p.G172R(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TTGGCGCCCCCGTCTACCTGT	0.637																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	uc003dsx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(514-516)GGG>AGG		coproporphyrinogen oxidase precursor							23.0	27.0	25.0					3																	98311835		2203	4300	6503	SO:0001583	missense	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98311835C>T	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"""coproporphyria"""	612732	"""coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"""	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.514G>A	3.37:g.98311835C>T	ENSP00000264193:p.Gly172Arg					CPOX_uc011bgz.1_Missense_Mutation_p.G172R	p.G172R	NM_000097	NP_000088	P36551	HEM6_HUMAN			1	607	-			172					A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Missense_Mutation	SNP	ENST00000264193.2	37	c.514G>A	CCDS2932.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854510	0.51376	.	.	ENSG00000080819	ENST00000264193	D	0.93859	-3.3	4.67	3.72	0.42706	.	0.223966	0.46758	D	0.000271	D	0.90154	0.6923	M	0.78344	2.41	0.51482	D	0.999921	P;B	0.42518	0.782;0.095	B;B	0.27887	0.084;0.011	D	0.90715	0.4630	10	0.48119	T	0.1	-20.8506	12.3287	0.55026	0.0:0.7809:0.2191:0.0	.	172;172	B4DSD5;P36551	.;HEM6_HUMAN	R	172	ENSP00000264193:G172R	ENSP00000264193:G172R	G	-	1	0	CPOX	99794525	1.000000	0.71417	0.909000	0.35828	0.735000	0.41995	3.206000	0.51098	2.293000	0.77203	0.650000	0.86243	GGG		PASS	0.637	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097		3	34	3	34	---	---	---	---
ALCAM	214	broad.mit.edu	37	3	105260527	105260527	+	Silent	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr3:105260527G>A	ENST00000306107.5	+	8	1409	c.909G>A	c.(907-909)gtG>gtA	p.V303V	ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Silent_p.V303V|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000486979.2_Silent_p.V252V	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	303	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)	p.V303V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGACGGATGTGAGGCGCAATG	0.418																																						uc003dvx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(907-909)GTG>GTA		activated leukocyte cell adhesion molecule							167.0	134.0	145.0					3																	105260527		2203	4300	6503	SO:0001819	synonymous_variant	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105260527G>A	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.909G>A	3.37:g.105260527G>A						ALCAM_uc003dvw.1_Silent_p.V303V|ALCAM_uc003dvy.2_Silent_p.V303V|ALCAM_uc011bhh.1_Silent_p.V252V|ALCAM_uc010hpp.2_Intron|ALCAM_uc003dvz.2_5'Flank	p.V303V	NM_001627	NP_001618	Q13740	CD166_HUMAN			8	1449	+			303			Extracellular (Potential).|Ig-like C2-type 1.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Silent	SNP	ENST00000306107.5	37	c.909G>A	CCDS33810.1																																																																																				PASS	0.418	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		22	77	22	77	---	---	---	---
RETNLB	84666	broad.mit.edu	37	3	108475982	108475982	+	Silent	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr3:108475982C>T	ENST00000295755.6	-	1	249	c.51G>A	c.(49-51)ctG>ctA	p.L17L	RETNLB_ENST00000482939.1_5'Flank	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	17					cell proliferation (GO:0008283)	extracellular region (GO:0005576)		p.L17L(1)		endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CCGGGTTGATCAGCTGGAGAA	0.522																																						uc003dxh.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(49-51)CTG>CTA		resistin like beta precursor							72.0	64.0	67.0					3																	108475982		2203	4300	6503	SO:0001819	synonymous_variant	84666				cell proliferation	extracellular region	hormone activity	g.chr3:108475982C>T	AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.51G>A	3.37:g.108475982C>T							p.L17L	NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN			1	149	-			17					Q14D27	Silent	SNP	ENST00000295755.6	37	c.51G>A	CCDS2953.1																																																																																				PASS	0.522	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355093.1			19	63	19	63	---	---	---	---
PHLDB2	90102	broad.mit.edu	37	3	111632271	111632271	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr3:111632271A>G	ENST00000431670.2	+	3	1852	c.1441A>G	c.(1441-1443)Aag>Gag	p.K481E	PHLDB2_ENST00000477695.1_Missense_Mutation_p.K481E|PHLDB2_ENST00000412622.1_Missense_Mutation_p.K481E|PHLDB2_ENST00000393925.3_Missense_Mutation_p.K481E|PHLDB2_ENST00000393923.3_Missense_Mutation_p.K508E|PHLDB2_ENST00000481953.1_Missense_Mutation_p.K481E|PHLDB2_ENST00000495180.1_Missense_Mutation_p.K67E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	481						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.K481E(2)|p.K508E(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAAAATCAACAAGGAGCTTGA	0.517																																						uc010hqa.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|skin(2)	6						c.(1441-1443)AAG>GAG		pleckstrin homology-like domain, family B,							111.0	108.0	109.0					3																	111632271		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111632271A>G		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1441A>G	3.37:g.111632271A>G	ENSP00000405405:p.Lys481Glu					PHLDB2_uc003dyc.2_Missense_Mutation_p.K508E|PHLDB2_uc003dyd.2_Missense_Mutation_p.K481E|PHLDB2_uc003dyg.2_Missense_Mutation_p.K481E|PHLDB2_uc003dyh.2_Missense_Mutation_p.K481E|PHLDB2_uc003dyi.2_Missense_Mutation_p.K67E|PHLDB2_uc003dyf.3_Missense_Mutation_p.K481E	p.K481E	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			3	1852	+			481					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.1441A>G	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.845006	0.91197	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000477695;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.37752	1.18;1.25;1.2;1.2;1.25;1.2;1.64	5.78	5.78	0.91487	.	0.051628	0.85682	D	0.000000	T	0.44095	0.1277	L	0.27053	0.805	0.50813	D	0.999895	D;D;D;D;D	0.89917	0.997;0.985;1.0;0.986;0.995	D;B;D;P;P	0.85130	0.98;0.437;0.997;0.64;0.741	T	0.22765	-1.0207	10	0.15066	T	0.55	.	13.6245	0.62157	1.0:0.0:0.0:0.0	.	67;481;481;481;508	E9PGF6;Q86SQ0;G5E9V3;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.;.	E	508;508;481;481;481;481;481;481;67	ENSP00000377500:K508E;ENSP00000405405:K481E;ENSP00000405292:K481E;ENSP00000418296:K481E;ENSP00000377502:K481E;ENSP00000418319:K481E;ENSP00000420303:K67E	ENSP00000352764:K508E	K	+	1	0	PHLDB2	113114961	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.318000	0.59190	2.206000	0.71126	0.533000	0.62120	AAG		PASS	0.517	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		32	159	32	159	---	---	---	---
ABHD10	55347	broad.mit.edu	37	3	111710348	111710348	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr3:111710348C>G	ENST00000273359.3	+	5	728	c.701C>G	c.(700-702)cCa>cGa	p.P234R	ABHD10_ENST00000494817.1_3'UTR|ABHD10_ENST00000534857.1_Missense_Mutation_p.P77R	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	234					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.P234R(1)		large_intestine(2)|lung(7)|skin(1)	10						TTACATAGCCCAATTCCTGTG	0.438																																						uc003dyk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(700-702)CCA>CGA		abhydrolase domain containing 10 precursor							196.0	175.0	182.0					3																	111710348		2203	4300	6503	SO:0001583	missense	55347					mitochondrion	serine-type peptidase activity	g.chr3:111710348C>G	AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"""Abhydrolase domain containing"""	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.701C>G	3.37:g.111710348C>G	ENSP00000273359:p.Pro234Arg					ABHD10_uc011bhq.1_Missense_Mutation_p.P77R	p.P234R	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN			5	782	+			234					B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Missense_Mutation	SNP	ENST00000273359.3	37	c.701C>G	CCDS2963.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787933	0.70337	.	.	ENSG00000144827	ENST00000534857;ENST00000273359	T;T	0.42900	0.96;0.96	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	M	0.81802	2.56	0.80722	D	1	D	0.58970	0.984	P	0.56216	0.794	T	0.56056	-0.8042	10	0.16420	T	0.52	-5.6199	18.5912	0.91214	0.0:1.0:0.0:0.0	.	234	Q9NUJ1	ABHDA_HUMAN	R	77;234	ENSP00000442932:P77R;ENSP00000273359:P234R	ENSP00000273359:P234R	P	+	2	0	ABHD10	113193038	1.000000	0.71417	0.918000	0.36340	0.674000	0.39518	7.423000	0.80229	2.771000	0.95319	0.591000	0.81541	CCA		PASS	0.438	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394		52	218	52	218	---	---	---	---
GCSAM	257144	broad.mit.edu	37	3	111849292	111849292	+	Splice_Site	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr3:111849292C>T	ENST00000308910.4	-	2	282	c.98G>A	c.(97-99)aGa>aAa	p.R33K	C3orf52_ENST00000467942.2_3'UTR|GCSAM_ENST00000484193.1_Splice_Site_p.R35K|RP11-757F18.5_ENST00000563632.1_RNA	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	33					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)	p.R33K(1)									TTGCTCTCACCTGGATGTTCT	0.498																																						uc003dys.1																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)AGA>AAA		germinal center expressed transcript 2 isoform							248.0	249.0	249.0					3																	111849292		2203	4300	6503	SO:0001630	splice_region_variant	257144					mitochondrion		g.chr3:111849292C>T	BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"""human germinal center-associated lymphoma"""	607792	"""germinal center expressed transcript 2"""	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.98+1G>A	3.37:g.111849292C>T						C3orf52_uc011bht.1_3'UTR|C3orf52_uc003dyr.1_RNA|GCET2_uc003dyt.1_5'UTR	p.R33K	NM_152785	NP_689998	Q8N6F7	GCET2_HUMAN			2	248	-			33					C9JD17|C9JUG6	Missense_Mutation	SNP	ENST00000308910.4	37	c.98G>A	CCDS2964.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297562	0.60086	.	.	ENSG00000174500	ENST00000308910;ENST00000484193;ENST00000460387;ENST00000488580;ENST00000487901	.	.	.	4.07	3.17	0.36434	.	0.567442	0.14886	N	0.292672	T	0.23572	0.0570	N	0.24115	0.695	0.19300	N	0.999973	P	0.45474	0.859	B	0.40782	0.34	T	0.04678	-1.0934	8	.	.	.	-7.8967	9.1187	0.36773	0.2174:0.7826:0.0:0.0	.	33	Q8N6F7	GCET2_HUMAN	K	33;35;33;16;16	.	.	R	-	2	0	GCET2	113331982	0.378000	0.25114	0.972000	0.41901	0.053000	0.15095	0.859000	0.27858	1.275000	0.44379	0.555000	0.69702	AGA;AGA;AGG;AGA;AGA		PASS	0.498	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353967.2	NM_152785	Missense_Mutation	24	311	24	311	---	---	---	---
ESYT3	83850	broad.mit.edu	37	3	138174129	138174129	+	Silent	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr3:138174129C>T	ENST00000389567.4	+	3	649	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	ESYT3_ENST00000289135.4_Silent_p.L155L	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	155	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.L155L(1)		breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GAGCATCCACCTGAGGACCTT	0.522																																						uc003esk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(463-465)CTG>TTG		family with sequence similarity 62 (C2 domain							135.0	133.0	133.0					3																	138174129		2203	4300	6503	SO:0001819	synonymous_variant	83850					integral to membrane|plasma membrane		g.chr3:138174129C>T	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.463C>T	3.37:g.138174129C>T						ESYT3_uc010hug.2_RNA	p.L155L	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN			3	689	+			155					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Silent	SNP	ENST00000389567.4	37	c.463C>T	CCDS3101.2																																																																																				PASS	0.522	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		20	105	20	105	---	---	---	---
RNF7	9616	broad.mit.edu	37	3	141464056	141464056	+	Silent	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr3:141464056G>A	ENST00000273480.3	+	3	417	c.279G>A	c.(277-279)gtG>gtA	p.V93V	RNF7_ENST00000393000.3_Silent_p.*91*|RNF7_ENST00000480908.1_Silent_p.V77V	NM_014245.4|NM_183237.2	NP_055060.1|NP_899060.1	Q9UBF6	RBX2_HUMAN	ring finger protein 7	93					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of apoptotic process (GO:0043066)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|response to redox state (GO:0051775)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|NEDD8 ligase activity (GO:0019788)|zinc ion binding (GO:0008270)	p.V93V(1)		kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						CCCTGTGGGTGAAACAGAACA	0.453																																						uc003eud.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(277-279)GTG>GTA		ring finger protein 7 isoform 1							74.0	60.0	65.0					3																	141464056		2203	4300	6503	SO:0001819	synonymous_variant	9616				anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state	cytoplasm|nucleus	copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding	g.chr3:141464056G>A	AF092878	CCDS3118.1, CCDS43158.1, CCDS56283.1	3q22-q24	2008-07-18			ENSG00000114125	ENSG00000114125		"""RING-type (C3HC4) zinc fingers"""	10070	protein-coding gene	gene with protein product	"""sensitive to apoptosis, zinc RING finger protein SAG, regulator of cullins 2"""	603863				10082581, 10230407	Standard	NM_014245		Approved	SAG, ROC2, CKBBP1	uc003eud.3	Q9UBF6	OTTHUMG00000141305	ENST00000273480.3:c.279G>A	3.37:g.141464056G>A						RNF7_uc003euc.2_Silent_p.*91*|RNF7_uc003eue.2_RNA	p.V93V	NM_014245	NP_055060	Q9UBF6	RBX2_HUMAN			3	412	+			93			RING-type.		A8K1H9|A8MTB5|C9JYL3|D3DNF7|D3DNF8|Q9BXN8|Q9Y5M7	Silent	SNP	ENST00000273480.3	37	c.279G>A	CCDS3118.1																																																																																				PASS	0.453	RNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280602.1	NM_014245		11	115	11	115	---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180378361	180378361	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr3:180378361G>C	ENST00000442201.2	-	4	632	c.513C>G	c.(511-513)atC>atG	p.I171M	CCDC39_ENST00000273654.4_Missense_Mutation_p.I255M	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	171					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.I255M(1)|p.I171M(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTCTCACCCTGATTTTATTAT	0.373																																						uc010hxe.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(511-513)ATC>ATG		coiled-coil domain containing 39							106.0	100.0	102.0					3																	180378361		1842	4087	5929	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180378361G>C	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.513C>G	3.37:g.180378361G>C	ENSP00000405708:p.Ile171Met					CCDC39_uc003fkn.2_RNA	p.I171M	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		4	628	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		171			Potential.		B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.513C>G	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874181	0.51695	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.22336	1.96;1.96	5.6	-6.42	0.01932	.	0.047235	0.85682	D	0.000000	T	0.36248	0.0960	M	0.81341	2.54	0.34821	D	0.738727	D	0.69078	0.997	D	0.71184	0.972	T	0.49872	-0.8893	10	0.72032	D	0.01	-14.5964	8.4505	0.32869	0.4884:0.0:0.3904:0.1212	.	171	Q9UFE4	CCD39_HUMAN	M	255;171	ENSP00000273654:I255M;ENSP00000405708:I171M	ENSP00000273654:I255M	I	-	3	3	CCDC39	181861055	0.810000	0.29049	0.964000	0.40570	0.703000	0.40648	-0.114000	0.10757	-0.717000	0.04955	-2.430000	0.00215	ATC		PASS	0.373	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		5	21	5	21	---	---	---	---
LEPREL1	55214	broad.mit.edu	37	3	189692409	189692409	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr3:189692409G>A	ENST00000319332.5	-	9	1587	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	LEPREL1_ENST00000427335.2_Missense_Mutation_p.R283W	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	464					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)	p.R464W(1)		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)	AGGAGAACCCGCTGAGTCCCG	0.567																																						uc011bsk.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(1390-1392)CGG>TGG		leprecan-like 1 isoform a	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						80.0	65.0	70.0					3																	189692409		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.chr3:189692409G>A		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.1390C>T	3.37:g.189692409G>A	ENSP00000316881:p.Arg464Trp					LEPREL1_uc003fsg.2_Missense_Mutation_p.R283W	p.R464W	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	9	1778	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		464					B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	ENST00000319332.5	37	c.1390C>T	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593468	0.86953	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.78481	-1.18;-1.18	5.81	4.93	0.64822	Prolyl 4-hydroxylase, alpha subunit (1);	0.059424	0.64402	D	0.000002	D	0.88768	0.6526	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89892	0.4038	9	.	.	.	-19.1796	13.1195	0.59318	0.0:0.0:0.7085:0.2915	.	464	Q8IVL5	P3H2_HUMAN	W	464;283	ENSP00000316881:R464W;ENSP00000408947:R283W	.	R	-	1	2	LEPREL1	191175103	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.440000	0.52886	1.433000	0.47394	-0.181000	0.13052	CGG		PASS	0.567	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		8	76	8	76	---	---	---	---
GPR78	27201	broad.mit.edu	37	4	8583059	8583059	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr4:8583059G>A	ENST00000382487.4	+	1	767	c.350G>A	c.(349-351)cGc>cAc	p.R117H	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	117					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R117H(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TACGCCGGACGCCTGCGACCG	0.697																																						uc003glk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)	6						c.(349-351)CGC>CAC		G protein-coupled receptor 78							8.0	10.0	9.0					4																	8583059		2174	4249	6423	SO:0001583	missense	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8583059G>A	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.350G>A	4.37:g.8583059G>A	ENSP00000371927:p.Arg117His					CPZ_uc003gll.2_RNA	p.R117H	NM_080819	NP_543009	Q96P69	GPR78_HUMAN			1	769	+			117			Cytoplasmic (Potential).		Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	c.350G>A	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138884	0.37728	.	.	ENSG00000155269	ENST00000382487	T	0.73152	-0.72	2.09	-1.24	0.09435	GPCR, rhodopsin-like superfamily (1);	0.076101	0.50627	U	0.000118	T	0.61961	0.2389	L	0.27053	0.805	0.27104	N	0.962545	D	0.69078	0.997	P	0.61070	0.883	T	0.54801	-0.8239	10	0.40728	T	0.16	.	1.9409	0.03346	0.5406:0.0:0.1946:0.2648	.	117	Q96P69	GPR78_HUMAN	H	117	ENSP00000371927:R117H	ENSP00000371927:R117H	R	+	2	0	GPR78	8633959	0.002000	0.14202	0.001000	0.08648	0.013000	0.08279	-0.301000	0.08232	-0.180000	0.10637	-0.823000	0.03104	CGC		PASS	0.697	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			6	16	6	16	---	---	---	---
GPR78	27201	broad.mit.edu	37	4	8584304	8584304	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr4:8584304G>C	ENST00000382487.4	+	2	1132	c.715G>C	c.(715-717)Gcc>Ccc	p.A239P	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	239					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A239P(1)|p.A239T(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCGCCACCGCGCCACCAGGAA	0.622																																						uc003glk.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)	central_nervous_system(4)|ovary(2)	6						c.(715-717)GCC>CCC		G protein-coupled receptor 78							129.0	108.0	115.0					4																	8584304		2203	4300	6503	SO:0001583	missense	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8584304G>C	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.715G>C	4.37:g.8584304G>C	ENSP00000371927:p.Ala239Pro					CPZ_uc003gll.2_RNA	p.A239P	NM_080819	NP_543009	Q96P69	GPR78_HUMAN			2	1134	+			239			Cytoplasmic (Potential).		Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	c.715G>C	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593458	0.66219	.	.	ENSG00000155269	ENST00000382487	T	0.41065	1.01	2.33	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000002	T	0.56262	0.1973	L	0.56199	1.76	0.49798	D	0.999828	D	0.89917	1.0	D	0.87578	0.998	T	0.59968	-0.7354	10	0.87932	D	0	.	11.6225	0.51126	0.0:0.0:1.0:0.0	.	239	Q96P69	GPR78_HUMAN	P	239	ENSP00000371927:A239P	ENSP00000371927:A239P	A	+	1	0	GPR78	8635204	1.000000	0.71417	0.002000	0.10522	0.006000	0.05464	7.291000	0.78721	1.118000	0.41863	0.563000	0.77884	GCC		PASS	0.622	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			18	92	18	92	---	---	---	---
UGT2A3	79799	broad.mit.edu	37	4	69811154	69811154	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr4:69811154C>A	ENST00000251566.4	-	2	764	c.734G>T	c.(733-735)tGt>tTt	p.C245F	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	245					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.C245F(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACAGTCTCACATAATGTAGT	0.328																																						uc003hef.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(733-735)TGT>TTT		UDP glucuronosyltransferase 2 family,							83.0	80.0	81.0					4																	69811154		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69811154C>A		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.734G>T	4.37:g.69811154C>A	ENSP00000251566:p.Cys245Phe					UGT2A3_uc010ihp.1_RNA	p.C245F	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			2	765	-			245			Extracellular (Potential).		Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.734G>T	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	5.758	0.324240	0.10900	.	.	ENSG00000135220	ENST00000251566	T	0.60171	0.21	3.23	-6.47	0.01902	.	0.000000	0.85682	D	0.000000	T	0.31796	0.0808	N	0.21324	0.655	0.32241	N	0.572779	B	0.27625	0.183	B	0.35312	0.2	T	0.42865	-0.9426	10	0.12103	T	0.63	.	4.3319	0.11067	0.2294:0.2418:0.4435:0.0853	.	245	Q6UWM9	UD2A3_HUMAN	F	245	ENSP00000251566:C245F	ENSP00000251566:C245F	C	-	2	0	UGT2A3	69845743	0.555000	0.26530	0.029000	0.17559	0.848000	0.48234	-0.071000	0.11505	-2.071000	0.00880	0.484000	0.47621	TGT		PASS	0.328	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		17	94	17	94	---	---	---	---
GRSF1	2926	broad.mit.edu	37	4	71698953	71698953	+	Silent	SNP	A	A	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr4:71698953A>G	ENST00000254799.6	-	3	669	c.552T>C	c.(550-552)ttT>ttC	p.F184F	GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000439371.1_Silent_p.F22F|GRSF1_ENST00000545193.1_Silent_p.F66F|GRSF1_ENST00000502323.1_Silent_p.F22F	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	184	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.F184F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			TGTTTAGGAGAAAATGTATTC	0.403																																						uc010iia.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(550-552)TTT>TTC		G-rich RNA sequence binding factor 1 isoform 1							121.0	115.0	117.0					4																	71698953		2076	4227	6303	SO:0001819	synonymous_variant	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71698953A>G	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.552T>C	4.37:g.71698953A>G						GRSF1_uc011caz.1_Silent_p.F66F|GRSF1_uc003hfs.2_Silent_p.F22F	p.F184F	NM_002092	NP_002083	Q12849	GRSF1_HUMAN	Lung(101;0.235)		3	635	-		all_hematologic(202;0.21)	184			RRM 1.		B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Silent	SNP	ENST00000254799.6	37	c.552T>C	CCDS47069.1	.	.	.	.	.	.	.	.	.	.	A	1.514	-0.548827	0.04024	.	.	ENSG00000132463	ENST00000514161	T	0.08984	3.03	5.11	1.5	0.22942	.	0.118551	0.64402	D	0.000006	T	0.17195	0.0413	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00668	-1.1618	7	0.87932	D	0	-6.7804	9.7563	0.40504	0.2724:0.0:0.7276:0.0	.	.	.	.	S	121	ENSP00000421789:F121S	ENSP00000421789:F121S	F	-	2	0	GRSF1	71917817	1.000000	0.71417	0.998000	0.56505	0.007000	0.05969	1.411000	0.34702	0.136000	0.18733	-0.132000	0.14878	TTC		PASS	0.403	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		7	91	7	91	---	---	---	---
HERC3	8916	broad.mit.edu	37	4	89571022	89571022	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr4:89571022C>G	ENST00000402738.1	+	4	497	c.258C>G	c.(256-258)atC>atG	p.I86M	HERC3_ENST00000264345.3_Missense_Mutation_p.I86M|HERC3_ENST00000407637.1_Missense_Mutation_p.I86M	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	86					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I86M(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		ATCAGCATATCATTCATGTGG	0.498																																						uc003hrw.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|prostate(1)|skin(1)	4						c.(256-258)ATC>ATG		hect domain and RLD 3							111.0	106.0	107.0					4																	89571022		2203	4300	6503	SO:0001583	missense	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89571022C>G	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.258C>G	4.37:g.89571022C>G	ENSP00000385684:p.Ile86Met					HERC3_uc003hrv.2_Missense_Mutation_p.I86M|HERC3_uc011cdn.1_Translation_Start_Site	p.I86M	NM_014606	NP_055421	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	4	424	+			86			RCC1 2.		A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	c.258C>G	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890123	0.52014	.	.	ENSG00000138641	ENST00000402738;ENST00000431413;ENST00000422770;ENST00000407637;ENST00000426683;ENST00000452979;ENST00000264345	D;D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	5.33	-7.29	0.01451	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.91081	0.7193	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.89673	0.3885	9	.	.	.	.	10.1504	0.42788	0.2487:0.587:0.0:0.1643	.	86;86	Q15034;Q8IXX3	HERC3_HUMAN;.	M	86	ENSP00000385684:I86M;ENSP00000405863:I86M;ENSP00000410029:I86M;ENSP00000384005:I86M;ENSP00000389991:I86M;ENSP00000406210:I86M;ENSP00000264345:I86M	.	I	+	3	3	HERC3	89790045	0.000000	0.05858	0.733000	0.30861	0.971000	0.66376	-1.189000	0.03061	-1.018000	0.03363	-0.140000	0.14226	ATC		PASS	0.498	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		5	112	5	112	---	---	---	---
ADH5	128	broad.mit.edu	37	4	99993574	99993574	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr4:99993574C>G	ENST00000296412.8	-	9	1169	c.1119G>C	c.(1117-1119)aaG>aaC	p.K373N		NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide									p.K373N(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		TGAATTAAATCTTTACAACAG	0.398																																						uc003hui.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1117-1119)AAG>AAC		class III alcohol dehydrogenase, chi subunit	NADH(DB00157)						67.0	62.0	64.0					4																	99993574		1871	4114	5985	SO:0001583	missense	128				ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding	g.chr4:99993574C>G	M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.1119G>C	4.37:g.99993574C>G	ENSP00000296412:p.Lys373Asn					ADH5_uc003huj.2_3'UTR	p.K373N	NM_000671	NP_000662	P11766	ADHX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	9	1199	-			373						Missense_Mutation	SNP	ENST00000296412.8	37	c.1119G>C	CCDS47111.1	.	.	.	.	.	.	.	.	.	.	C	7.670	0.686767	0.14973	.	.	ENSG00000197894	ENST00000296412	T	0.01981	4.52	3.73	2.89	0.33648	GroES-like (1);	0.191158	0.44097	D	0.000497	T	0.01592	0.0051	N	0.16266	0.395	0.42626	D	0.993366	B	0.02656	0.0	B	0.04013	0.001	T	0.55205	-0.8177	9	.	.	.	-11.4378	9.0518	0.36380	0.0:0.8926:0.0:0.1073	.	373	P11766	ADHX_HUMAN	N	373	ENSP00000296412:K373N	.	K	-	3	2	ADH5	100212597	0.052000	0.20516	0.790000	0.31976	0.378000	0.30076	0.142000	0.16096	1.154000	0.42482	0.650000	0.86243	AAG		PASS	0.398	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	NM_000671		5	74	5	74	---	---	---	---
UGT8	7368	broad.mit.edu	37	4	115589240	115589240	+	Splice_Site	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr4:115589240G>A	ENST00000310836.6	+	5	1564		c.e5-1		UGT8_ENST00000394511.3_Splice_Site	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8						axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)	p.?(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TCTTTCTTCAGGGCATTCAAA	0.358																																						uc003ibs.2																			1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e5-1		UDP-galactose-ceramide galactosyltransferase 8							98.0	90.0	93.0					4																	115589240		2203	4300	6503	SO:0001630	splice_region_variant	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115589240G>A	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.1043-1G>A	4.37:g.115589240G>A						UGT8_uc003ibt.2_Splice_Site_p.G348_splice|UGT8_uc011cge.1_Splice_Site	p.G348_splice	NM_001128174	NP_001121646	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	5	1565	+		Ovarian(17;0.156)						B3KXU7|O00196	Splice_Site	SNP	ENST00000310836.6	37	c.1043_splice	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803206	0.70682	.	.	ENSG00000174607	ENST00000310836;ENST00000394511	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4158	0.90570	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UGT8	115808689	1.000000	0.71417	0.994000	0.49952	0.672000	0.39443	9.860000	0.99555	2.634000	0.89283	0.655000	0.94253	.		PASS	0.358	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360	Intron	21	122	21	122	---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125599867	125599867	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr4:125599867G>A	ENST00000504087.1	-	3	1743	c.706C>T	c.(706-708)Cga>Tga	p.R236*	ANKRD50_ENST00000515641.1_Nonsense_Mutation_p.R57*	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	236								p.R236*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTCTGCTTTCGGGCAGAACAG	0.408																																						uc003ifg.3																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(706-708)CGA>TGA		ankyrin repeat domain 50							143.0	141.0	142.0					4																	125599867		2203	4300	6503	SO:0001587	stop_gained	57182							g.chr4:125599867G>A	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.706C>T	4.37:g.125599867G>A	ENSP00000425658:p.Arg236*					ANKRD50_uc011cgo.1_Nonsense_Mutation_p.R57*|ANKRD50_uc010inw.2_Nonsense_Mutation_p.R236*	p.R236*	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			2	972	-			236					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Nonsense_Mutation	SNP	ENST00000504087.1	37	c.706C>T	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	47	13.203231	0.99727	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	.	.	.	5.81	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0697	0.80914	0.0:0.0:0.8648:0.1352	.	.	.	.	X	236;57	.	ENSP00000425658:R236X	R	-	1	2	ANKRD50	125819317	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	6.973000	0.76116	1.429000	0.47314	0.585000	0.79938	CGA		PASS	0.408	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		6	227	6	227	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37001175	37001175	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr5:37001175C>T	ENST00000282516.8	+	14	4158	c.3659C>T	c.(3658-3660)gCg>gTg	p.A1220V	NIPBL_ENST00000448238.2_Missense_Mutation_p.A1220V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1220					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.A1220V(4)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GATTTTACTGCGTTTGGTAAA	0.333																																						uc003jkl.3																			4	Substitution - Missense(4)		large_intestine(2)|lung(2)	ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(3658-3660)GCG>GTG		delangin isoform A							65.0	71.0	69.0					5																	37001175		2201	4293	6494	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37001175C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3659C>T	5.37:g.37001175C>T	ENSP00000282516:p.Ala1220Val					NIPBL_uc003jkk.3_Missense_Mutation_p.A1220V	p.A1220V	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		14	4158	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1220					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.3659C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098459	0.56183	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93659	-3.26;-3.26	5.65	5.65	0.86999	.	0.055752	0.64402	D	0.000001	D	0.90508	0.7026	L	0.47716	1.5	0.44834	D	0.997846	B;B	0.19706	0.023;0.038	B;B	0.15870	0.004;0.014	D	0.86324	0.1694	10	0.32370	T	0.25	.	16.0229	0.80512	0.0:0.8657:0.1343:0.0	.	1220;1220	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	V	1220	ENSP00000282516:A1220V;ENSP00000406266:A1220V	ENSP00000282516:A1220V	A	+	2	0	NIPBL	37036932	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.364000	0.59479	2.646000	0.89796	0.655000	0.94253	GCG		PASS	0.333	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		9	180	9	180	---	---	---	---
SLC38A9	153129	broad.mit.edu	37	5	54968400	54968400	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr5:54968400G>T	ENST00000396865.2	-	4	828	c.237C>A	c.(235-237)gaC>gaA	p.D79E	SLC38A9_ENST00000512595.1_Missense_Mutation_p.D52E|SLC38A9_ENST00000318672.3_Missense_Mutation_p.D79E|SLC38A9_ENST00000515629.1_Missense_Mutation_p.D16E|SLC38A9_ENST00000539768.1_Missense_Mutation_p.D79E|SLC38A9_ENST00000416547.2_Intron	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	79					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.D79E(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				CCAGTGCCTTGTCTGCAGGAG	0.428																																						uc003jqf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(235-237)GAC>GAA		solute carrier family 38, member 9							133.0	126.0	128.0					5																	54968400		2203	4300	6503	SO:0001583	missense	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54968400G>T		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.237C>A	5.37:g.54968400G>T	ENSP00000380074:p.Asp79Glu					SLC38A9_uc003jqd.2_Missense_Mutation_p.D16E|SLC38A9_uc010ivx.2_Missense_Mutation_p.D52E|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Intron	p.D79E	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN			4	438	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	79					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Missense_Mutation	SNP	ENST00000396865.2	37	c.237C>A	CCDS3968.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396716	0.83120	.	.	ENSG00000177058	ENST00000396865;ENST00000318672;ENST00000539768;ENST00000515629;ENST00000512595;ENST00000511233;ENST00000512208;ENST00000503817;ENST00000503891;ENST00000502247;ENST00000513993	T;T;T;T;T;T;T	0.50277	1.79;1.79;0.75;1.84;1.39;1.31;0.83	5.53	5.53	0.82687	.	0.045414	0.85682	D	0.000000	T	0.43411	0.1246	L	0.34521	1.04	0.80722	D	1	B;P	0.51791	0.085;0.948	B;P	0.45343	0.02;0.477	T	0.15723	-1.0427	10	0.17369	T	0.5	-3.664	19.4543	0.94882	0.0:0.0:1.0:0.0	.	52;79	B3KXV1;Q8NBW4	.;S38A9_HUMAN	E	79;79;79;16;52;79;16;16;79;16;79	ENSP00000380074:D79E;ENSP00000316596:D79E;ENSP00000437771:D79E;ENSP00000420934:D16E;ENSP00000427335:D52E;ENSP00000423219:D79E;ENSP00000426413:D16E	ENSP00000316596:D79E	D	-	3	2	SLC38A9	55004157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.119000	0.64679	2.598000	0.87819	0.650000	0.86243	GAC		PASS	0.428	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		4	192	4	192	---	---	---	---
PRR16	51334	broad.mit.edu	37	5	120022385	120022385	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr5:120022385C>A	ENST00000407149.2	+	2	1105	c.896C>A	c.(895-897)tCa>tAa	p.S299*	PRR16_ENST00000446965.1_Nonsense_Mutation_p.S229*|PRR16_ENST00000505123.1_Nonsense_Mutation_p.S229*|PRR16_ENST00000379551.2_Nonsense_Mutation_p.S276*			Q569H4	LARGN_HUMAN	proline rich 16	299					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.S276*(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TTGAGGAAGTCAACCACTACA	0.393																																						uc003ksq.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(895-897)TCA>TAA		proline rich 16							57.0	58.0	58.0					5																	120022385		2203	4298	6501	SO:0001587	stop_gained	51334							g.chr5:120022385C>A	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.896C>A	5.37:g.120022385C>A	ENSP00000385118:p.Ser299*					PRR16_uc003ksp.2_Nonsense_Mutation_p.S276*|PRR16_uc003ksr.2_Nonsense_Mutation_p.S229*	p.S299*	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	2	1059	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	299					D3DSZ0|Q8IXY1|Q9NYI5	Nonsense_Mutation	SNP	ENST00000407149.2	37	c.896C>A		.	.	.	.	.	.	.	.	.	.	C	36	5.739961	0.96873	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	.	.	.	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.45946	D	0.998777	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.4604	17.8269	0.88668	0.0:1.0:0.0:0.0	.	.	.	.	X	299;276;229;229	.	.	S	+	2	0	PRR16	120050284	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	7.453000	0.80700	2.496000	0.84212	0.655000	0.94253	TCA		PASS	0.393	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		4	59	4	59	---	---	---	---
PRRC1	133619	broad.mit.edu	37	5	126883605	126883605	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr5:126883605G>C	ENST00000296666.8	+	8	1308	c.1120G>C	c.(1120-1122)Gta>Cta	p.V374L	PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000442138.2_Missense_Mutation_p.V374L|PRRC1_ENST00000512635.2_Missense_Mutation_p.V374L	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	374						Golgi apparatus (GO:0005794)		p.V374L(1)		endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		TTTGGAATTTGTACAGCAGGT	0.368																																						uc003kuk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1120-1122)GTA>CTA		proline-rich coiled-coil 1							162.0	153.0	156.0					5																	126883605		2203	4300	6503	SO:0001583	missense	133619					Golgi apparatus		g.chr5:126883605G>C	AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.1120G>C	5.37:g.126883605G>C	ENSP00000296666:p.Val374Leu					PRRC1_uc003kuj.3_Missense_Mutation_p.V374L	p.V374L	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)	8	1300	+		Prostate(80;0.165)	374					Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Missense_Mutation	SNP	ENST00000296666.8	37	c.1120G>C	CCDS4143.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444488	0.63178	.	.	ENSG00000164244	ENST00000296666;ENST00000442138;ENST00000330542;ENST00000512635;ENST00000512535	.	.	.	5.27	5.27	0.74061	.	0.062767	0.64402	D	0.000005	T	0.73528	0.3598	M	0.63843	1.955	0.53688	D	0.999979	P;D	0.57899	0.528;0.981	B;P	0.56474	0.148;0.799	T	0.75988	-0.3123	9	0.72032	D	0.01	-25.1207	18.0627	0.89382	0.0:0.0:1.0:0.0	.	374;374	Q96M27;Q96M27-5	PRRC1_HUMAN;.	L	374	.	ENSP00000296666:V374L	V	+	1	0	PRRC1	126911504	1.000000	0.71417	0.985000	0.45067	0.990000	0.78478	5.232000	0.65332	2.740000	0.93945	0.650000	0.86243	GTA		PASS	0.368	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3	NM_130809		10	74	10	74	---	---	---	---
PSD2	84249	broad.mit.edu	37	5	139216784	139216784	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr5:139216784C>G	ENST00000274710.3	+	11	1831	c.1626C>G	c.(1624-1626)ttC>ttG	p.F542L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	542	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.F542L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGAAATTCTACGCAGTGC	0.622																																						uc003leu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1624-1626)TTC>TTG		pleckstrin and Sec7 domain containing 2							79.0	82.0	81.0					5																	139216784		2203	4300	6503	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139216784C>G	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1626C>G	5.37:g.139216784C>G	ENSP00000274710:p.Phe542Leu						p.F542L	NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1831	+			542			PH.		D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.1626C>G	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644876	0.67358	.	.	ENSG00000146005	ENST00000274710	T	0.78481	-1.18	5.22	3.43	0.39272	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.61703	1.905	0.58432	D	0.999996	P	0.37370	0.592	P	0.47528	0.549	T	0.76556	-0.2916	10	0.56958	D	0.05	.	5.3377	0.15967	0.0:0.6007:0.0:0.3993	.	542	Q9BQI7	PSD2_HUMAN	L	542	ENSP00000274710:F542L	ENSP00000274710:F542L	F	+	3	2	PSD2	139196968	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	1.114000	0.31196	1.205000	0.43262	-0.439000	0.05793	TTC		PASS	0.622	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		8	133	8	133	---	---	---	---
CYSTM1	84418	broad.mit.edu	37	5	139622978	139622978	+	Silent	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr5:139622978C>G	ENST00000261811.4	+	3	940	c.276C>G	c.(274-276)ctC>ctG	p.L92L	CYSTM1_ENST00000509789.2_3'UTR|PFDN1_ENST00000514611.1_5'Flank	NM_032412.3	NP_115788.1	Q9H1C7	CYTM1_HUMAN	cysteine-rich transmembrane module containing 1	92						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L92L(1)									GCTGCTGTCTCTGGGACATGC	0.582																																						uc003lfd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(274-276)CTC>CTG		hypothetical protein LOC84418							83.0	75.0	78.0					5																	139622978		2203	4300	6503	SO:0001819	synonymous_variant	84418							g.chr5:139622978C>G	AJ245877	CCDS4221.1	5q31.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000120306	ENSG00000120306			30239	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 32"""	C5orf32		19933165	Standard	NM_032412		Approved	ORF1-FL49	uc003lfd.3	Q9H1C7	OTTHUMG00000129243	ENST00000261811.4:c.276C>G	5.37:g.139622978C>G						C5orf32_uc010jfi.2_RNA	p.L92L	NM_032412	NP_115788	Q9H1C7	CE032_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	514	+			92					Q8TBA5	Silent	SNP	ENST00000261811.4	37	c.276C>G	CCDS4221.1																																																																																				PASS	0.582	CYSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251342.2	NM_032412		4	46	4	46	---	---	---	---
CD14	929	broad.mit.edu	37	5	140012007	140012007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr5:140012007C>A	ENST00000302014.6	-	2	1191	c.562G>T	c.(562-564)Gaa>Taa	p.E188*	CD14_ENST00000401743.2_Nonsense_Mutation_p.E188*	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	188					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)	p.E188*(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAACCTGTTCGCAGGAAAAG	0.622																																						uc003lgi.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(562-564)GAA>TAA		CD14 antigen precursor							63.0	61.0	61.0					5																	140012007		2203	4300	6503	SO:0001587	stop_gained	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140012007C>A		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.562G>T	5.37:g.140012007C>A	ENSP00000304236:p.Glu188*					CD14_uc003lgj.1_Nonsense_Mutation_p.E188*	p.E188*	NM_000591	NP_000582	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	916	-			188			LRR 5.		Q53XT5|Q96FR6|Q96L99|Q9UNS3	Nonsense_Mutation	SNP	ENST00000302014.6	37	c.562G>T	CCDS4232.1	.	.	.	.	.	.	.	.	.	.	C	37	6.024796	0.97211	.	.	ENSG00000170458	ENST00000302014;ENST00000401743;ENST00000498971	.	.	.	5.96	3.0	0.34707	.	0.762462	0.11719	N	0.536044	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-4.8711	5.9765	0.19382	0.1318:0.6442:0.1434:0.0806	.	.	.	.	X	188	.	ENSP00000304236:E188X	E	-	1	0	CD14	139992191	0.294000	0.24380	0.870000	0.34147	0.874000	0.50279	0.449000	0.21744	0.824000	0.34613	0.655000	0.94253	GAA		PASS	0.622	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		4	83	4	83	---	---	---	---
CD14	929	broad.mit.edu	37	5	140012199	140012199	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr5:140012199C>G	ENST00000302014.6	-	2	999	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	CD14_ENST00000401743.2_Missense_Mutation_p.E124Q	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	124					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)	p.E124Q(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTAGGTCCTCGAGCGTCAGT	0.632																																						uc003lgi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)GAG>CAG		CD14 antigen precursor							54.0	50.0	52.0					5																	140012199		2202	4299	6501	SO:0001583	missense	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140012199C>G		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.370G>C	5.37:g.140012199C>G	ENSP00000304236:p.Glu124Gln					CD14_uc003lgj.1_Missense_Mutation_p.E124Q	p.E124Q	NM_000591	NP_000582	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	724	-			124			LRR 3.		Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	ENST00000302014.6	37	c.370G>C	CCDS4232.1	.	.	.	.	.	.	.	.	.	.	C	9.267	1.044693	0.19748	.	.	ENSG00000170458	ENST00000302014;ENST00000401743;ENST00000498971	T;T;T	0.29397	2.23;2.23;1.57	5.96	2.12	0.27331	.	0.467437	0.19378	N	0.115725	T	0.18923	0.0454	L	0.38175	1.15	0.09310	N	1	P	0.36909	0.573	B	0.30855	0.121	T	0.09997	-1.0649	10	0.45353	T	0.12	-21.8816	6.6961	0.23199	0.0:0.5551:0.2892:0.1557	.	124	P08571	CD14_HUMAN	Q	124	ENSP00000304236:E124Q;ENSP00000385519:E124Q;ENSP00000426543:E124Q	ENSP00000304236:E124Q	E	-	1	0	CD14	139992383	0.316000	0.24580	0.112000	0.21494	0.131000	0.20780	0.814000	0.27239	0.392000	0.25172	-0.150000	0.13652	GAG		PASS	0.632	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		8	90	8	90	---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140208509	140208509	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr5:140208509C>T	ENST00000529310.1	+	1	947	c.833C>T	c.(832-834)tCa>tTa	p.S278L	PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.S278L|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S278L(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCAATTTCATATTCTTTT	0.388																																						uc003lho.2																			2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(832-834)TCA>TTA		protocadherin alpha 6 isoform 1 precursor							107.0	107.0	107.0					5																	140208509		2203	4300	6503	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140208509C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.833C>T	5.37:g.140208509C>T	ENSP00000433378:p.Ser278Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.S278L|PCDHA6_uc011dab.1_Missense_Mutation_p.S278L	p.S278L	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	860	+			278			Cadherin 3.|Extracellular (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.833C>T	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.470167	0.00169	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.01787	4.64;4.64	3.7	1.88	0.25563	Cadherin (4);Cadherin-like (1);	0.720818	0.10636	U	0.651635	T	0.01765	0.0056	N	0.25992	0.78	0.09310	N	1	B;B;B	0.12013	0.005;0.003;0.001	B;B;B	0.16722	0.01;0.016;0.005	T	0.45041	-0.9288	10	0.36615	T	0.2	.	8.8801	0.35370	0.0:0.7276:0.0:0.2724	.	278;278;278	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	L	278	ENSP00000433378:S278L;ENSP00000434113:S278L	ENSP00000434113:S278L	S	+	2	0	PCDHA6	140188693	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	-1.681000	0.01937	0.887000	0.36136	0.313000	0.20887	TCA		PASS	0.388	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		29	186	29	186	---	---	---	---
PCDHGC3	5098	broad.mit.edu	37	5	140856583	140856583	+	Silent	SNP	A	A	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr5:140856583A>T	ENST00000308177.3	+	1	1004	c.900A>T	c.(898-900)gtA>gtT	p.V300V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	300	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V300V(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGACCTTGTAACCGGGATGC	0.547																																						uc003lkv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(898-900)GTA>GTT		protocadherin gamma subfamily C, 3 isoform 1							71.0	72.0	71.0					5																	140856583		2203	4300	6503	SO:0001819	synonymous_variant	5098				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140856583A>T	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.900A>T	5.37:g.140856583A>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Silent_p.V300V|PCDHGC3_uc003lkw.1_Intron	p.V300V	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1015	+			300			Cadherin 3.|Extracellular (Potential).		O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	c.900A>T	CCDS4261.1																																																																																				PASS	0.547	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		20	164	20	164	---	---	---	---
GLRA1	2741	broad.mit.edu	37	5	151230968	151230968	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr5:151230968G>C	ENST00000455880.2	-	7	1181	c.895C>G	c.(895-897)Cga>Gga	p.R299G	GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Missense_Mutation_p.R216G|GLRA1_ENST00000274576.4_Missense_Mutation_p.R299G			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	299			R -> L (in HKPX1; decreased potency of glycine to activate the channel). {ECO:0000269|PubMed:7981700, ECO:0000269|PubMed:8298642}.|R -> Q (in HKPX1; decreased potency of glycine to activate the channel). {ECO:0000269|PubMed:8298642}.		acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)	p.R299G(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGAGATGCTCGAGAGCCGGAG	0.547																																						uc003lut.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(895-897)CGA>GGA		glycine receptor, alpha 1 isoform 1 precursor	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						95.0	87.0	90.0					5																	151230968		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151230968G>C		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.895C>G	5.37:g.151230968G>C	ENSP00000411593:p.Arg299Gly					GLRA1_uc003lur.2_Missense_Mutation_p.R299G|GLRA1_uc003lus.2_Missense_Mutation_p.R216G	p.R299G	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		7	1182	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	299		R -> L (in STHE; decreased potency of glycine to activate the channel).|R -> Q (in STHE; decreased potency of glycine to activate the channel).			B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.895C>G	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527852	0.44969	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.86627	-2.15;-2.15;-2.15	5.2	3.34	0.38264	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.91774	0.7398	M	0.63208	1.945	0.50171	D	0.999852	D;D;D	0.89917	0.979;1.0;1.0	D;D;D	0.97110	0.93;1.0;0.999	D	0.91746	0.5408	10	0.72032	D	0.01	.	14.1829	0.65586	0.0:0.0:0.7265:0.2735	.	299;216;299	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	G	299;299;216	ENSP00000274576:R299G;ENSP00000411593:R299G;ENSP00000445913:R216G	ENSP00000274576:R299G	R	-	1	2	GLRA1	151211161	1.000000	0.71417	0.997000	0.53966	0.814000	0.46013	1.717000	0.37991	0.634000	0.30469	0.655000	0.94253	CGA		PASS	0.547	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			6	59	6	59	---	---	---	---
GRIA1	2890	broad.mit.edu	37	5	153149833	153149833	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr5:153149833T>A	ENST00000285900.5	+	13	2471	c.2128T>A	c.(2128-2130)Tcc>Acc	p.S710T	GRIA1_ENST00000448073.4_Missense_Mutation_p.S720T|GRIA1_ENST00000518783.1_Missense_Mutation_p.S720T|GRIA1_ENST00000518142.1_Missense_Mutation_p.S630T|GRIA1_ENST00000340592.5_Missense_Mutation_p.S710T|GRIA1_ENST00000521843.2_Missense_Mutation_p.S641T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	710					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|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)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|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)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.S710T(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AGTGAGGAAATCCAAAGGCAA	0.473																																						uc003lva.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(2128-2130)TCC>ACC		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						137.0	120.0	126.0					5																	153149833		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding	g.chr5:153149833T>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2128T>A	5.37:g.153149833T>A	ENSP00000285900:p.Ser710Thr					GRIA1_uc003luy.3_Missense_Mutation_p.S710T|GRIA1_uc003luz.3_Missense_Mutation_p.S615T|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.S630T|GRIA1_uc011dcx.1_Missense_Mutation_p.S641T|GRIA1_uc011dcy.1_Missense_Mutation_p.S720T|GRIA1_uc011dcz.1_Missense_Mutation_p.S720T	p.S710T	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		13	2493	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	710			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2128T>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325156	0.81580	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12	5.41	5.41	0.78517	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	M	0.81179	2.53	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.83275	0.996;0.996;0.983;0.994;0.981	T	0.66337	-0.5949	10	0.35671	T	0.21	.	14.6134	0.68531	0.0:0.0:0.0:1.0	.	720;720;630;710;710	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	T	710;710;630;664;710;643;641;720;720	ENSP00000285900:S710T;ENSP00000427920:S630T;ENSP00000339343:S710T;ENSP00000427864:S643T;ENSP00000442108:S641T;ENSP00000428994:S720T;ENSP00000415569:S720T	ENSP00000285900:S710T	S	+	1	0	GRIA1	153130026	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.015000	0.70791	2.042000	0.60477	0.533000	0.62120	TCC		PASS	0.473	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			15	79	15	79	---	---	---	---
SOX30	11063	broad.mit.edu	37	5	157065554	157065554	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr5:157065554G>A	ENST00000265007.6	-	4	1905	c.1564C>T	c.(1564-1566)Cat>Tat	p.H522Y	SOX30_ENST00000519442.1_Missense_Mutation_p.H217Y|SOX30_ENST00000311371.5_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	522					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.H522Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCAGCTGATGAGTGTCTGTT	0.542																																					Esophageal Squamous(31;525 799 19355 21125 41744)	uc003lxb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1564-1566)CAT>TAT		SRY (sex determining region Y)-box 30 isoform a							90.0	89.0	89.0					5																	157065554		2203	4300	6503	SO:0001583	missense	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157065554G>A	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1564C>T	5.37:g.157065554G>A	ENSP00000265007:p.His522Tyr					SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Missense_Mutation_p.H217Y	p.H522Y	NM_178424	NP_848511	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	1906	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	522					O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	c.1564C>T	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361267	0.24684	.	.	ENSG00000039600	ENST00000265007;ENST00000519442	D;D	0.97772	-4.26;-4.53	5.49	5.49	0.81192	.	0.198244	0.36101	N	0.002788	D	0.93841	0.8030	N	0.19112	0.55	0.29174	N	0.876923	B;B	0.27498	0.09;0.18	B;B	0.21546	0.015;0.035	D	0.90501	0.4474	10	0.72032	D	0.01	.	12.8952	0.58095	0.0773:0.0:0.9227:0.0	.	217;522	B4DXW7;O94993	.;SOX30_HUMAN	Y	522;217	ENSP00000265007:H522Y;ENSP00000427984:H217Y	ENSP00000265007:H522Y	H	-	1	0	SOX30	156998132	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	2.853000	0.48317	2.582000	0.87167	0.650000	0.86243	CAT		PASS	0.542	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		7	86	7	86	---	---	---	---
GABRA6	2559	broad.mit.edu	37	5	161128560	161128560	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr5:161128560A>G	ENST00000274545.5	+	9	1576	c.1143A>G	c.(1141-1143)atA>atG	p.I381M	GABRA6_ENST00000523217.1_Missense_Mutation_p.I371M			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	381					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.I381M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTTTGCCAATAGTTTCATCTT	0.448										TCGA Ovarian(5;0.080)																												uc003lyu.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1141-1143)ATA>ATG		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)																																			SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128560A>G		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1143A>G	5.37:g.161128560A>G	ENSP00000274545:p.Ile381Met	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Missense_Mutation_p.I152M	p.I381M	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1481	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	381			Cytoplasmic (Probable).		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.1143A>G	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	A	11.26	1.586211	0.28268	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.83992	-1.79;-1.79	5.16	1.21	0.21127	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.151460	0.06131	N	0.670581	T	0.70753	0.3260	N	0.08118	0	0.23773	N	0.996884	P	0.39883	0.693	B	0.42282	0.382	T	0.61212	-0.7108	10	0.46703	T	0.11	.	7.9949	0.30263	0.5949:0.3333:0.0718:0.0	.	381	Q16445	GBRA6_HUMAN	M	381;371	ENSP00000274545:I381M;ENSP00000430527:I371M	ENSP00000274545:I381M	I	+	3	3	GABRA6	161061138	0.801000	0.28930	0.873000	0.34254	0.606000	0.37113	0.116000	0.15561	0.028000	0.15324	0.533000	0.62120	ATA		PASS	0.448	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			39	163	39	163	---	---	---	---
ADAMTS2	9509	broad.mit.edu	37	5	178541089	178541089	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr5:178541089G>C	ENST00000251582.7	-	22	3516	c.3415C>G	c.(3415-3417)Ccc>Gcc	p.P1139A		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1139					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P1139A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ACCTCCAGGGGGGTGCTTGGT	0.572																																						uc003mjw.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(3415-3417)CCC>GCC		ADAM metallopeptidase with thrombospondin type 1							175.0	161.0	166.0					5																	178541089		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178541089G>C	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3415C>G	5.37:g.178541089G>C	ENSP00000251582:p.Pro1139Ala					uc003mjv.3_5'Flank	p.P1139A	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	22	3415	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	1139						Missense_Mutation	SNP	ENST00000251582.7	37	c.3415C>G	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	5.897	0.349525	0.11182	.	.	ENSG00000087116	ENST00000251582	T	0.58940	0.3	5.05	4.16	0.48862	.	0.000000	0.51477	D	0.000096	T	0.44201	0.1282	L	0.27053	0.805	0.29796	N	0.832839	B	0.26318	0.146	B	0.24974	0.057	T	0.46275	-0.9203	10	0.49607	T	0.09	.	12.1037	0.53798	0.0:0.0:0.8282:0.1718	.	1139	O95450	ATS2_HUMAN	A	1139	ENSP00000251582:P1139A	ENSP00000251582:P1139A	P	-	1	0	ADAMTS2	178473695	0.628000	0.27138	0.003000	0.11579	0.016000	0.09150	3.484000	0.53201	1.050000	0.40346	0.561000	0.74099	CCC		PASS	0.572	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		31	153	31	153	---	---	---	---
TRIM15	89870	broad.mit.edu	37	6	30131596	30131596	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr6:30131596G>C	ENST00000376694.4	+	1	604	c.135G>C	c.(133-135)caG>caC	p.Q45H	TRIM15_ENST00000376688.1_Missense_Mutation_p.Q45H|TRIM10_ENST00000449742.2_5'Flank|TRIM10_ENST00000376704.3_5'Flank	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	45					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Q45H(1)		large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CGCTCTCCCAGATGGGGGCCC	0.687																																						uc010jrx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(133-135)CAG>CAC		tripartite motif protein 15							45.0	43.0	44.0					6																	30131596		1509	2708	4217	SO:0001583	missense	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30131596G>C	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.135G>C	6.37:g.30131596G>C	ENSP00000365884:p.Gln45His					TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank	p.Q45H	NM_033229	NP_150232	Q9C019	TRI15_HUMAN			1	614	+			45			RING-type.		A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	c.135G>C	CCDS4677.1	.	.	.	.	.	.	.	.	.	.	G	5.156	0.214315	0.09810	.	.	ENSG00000204610	ENST00000376694;ENST00000376688	D;D	0.86497	-2.13;-2.13	5.02	1.16	0.20824	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.678119	0.12204	N	0.489979	T	0.63379	0.2506	L	0.39147	1.195	0.09310	N	0.999998	B	0.11235	0.004	B	0.15052	0.012	T	0.54853	-0.8231	10	0.51188	T	0.08	.	2.867	0.05604	0.1598:0.1419:0.5521:0.1461	.	45	Q9C019	TRI15_HUMAN	H	45	ENSP00000365884:Q45H;ENSP00000365878:Q45H	ENSP00000365878:Q45H	Q	+	3	2	TRIM15	30239575	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	0.000000	0.12993	0.018000	0.15052	-0.515000	0.04445	CAG		PASS	0.687	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		7	64	7	64	---	---	---	---
HLA-DMB	3109	broad.mit.edu	37	6	32905234	32905234	+	Splice_Site	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr6:32905234C>A	ENST00000418107.2	-	3	600		c.e3-1		XXbac-BPG181M17.5_ENST00000429234.1_Splice_Site|AL645941.1_ENST00000390777.1_RNA|HLA-DMB_ENST00000416244.2_Splice_Site	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)	p.?(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GATGGTGGCCCTGCATAGGAG	0.493																																						uc003ocl.1																			2	Unknown(2)		lung(2)		0						c.e3-1		major histocompatibility complex, class II, DM							81.0	81.0	81.0					6																	32905234		2203	4300	6503	SO:0001630	splice_region_variant	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32905234C>A		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.338-1G>T	6.37:g.32905234C>A						HLA-DMB_uc003ocj.1_3'UTR|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_Splice_Site|HLA-DMB_uc010jue.1_Splice_Site|HLA-DMB_uc010juf.1_Splice_Site|HLA-DMB_uc011dql.1_Intron	p.R113_splice	NM_002118	NP_002109	P28068	DMB_HUMAN			3	571	-								O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Splice_Site	SNP	ENST00000418107.2	37	c.338_splice	CCDS4760.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996127	0.35226	.	.	ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993	ENST00000414017;ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5032	0.61469	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XXbac-BPG181M17.5;HLA-DMB	33013212	0.990000	0.36364	0.625000	0.29200	0.634000	0.38068	4.176000	0.58269	2.558000	0.86282	0.544000	0.68410	.		PASS	0.493	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118	Intron	25	143	25	143	---	---	---	---
MAPK13	5603	broad.mit.edu	37	6	36103596	36103596	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr6:36103596G>C	ENST00000211287.4	+	4	637	c.375G>C	c.(373-375)gaG>gaC	p.E125D	MAPK13_ENST00000373759.1_Missense_Mutation_p.E47D|MAPK13_ENST00000490334.1_3'UTR|MAPK13_ENST00000373761.6_Missense_Mutation_p.E125D|MAPK13_ENST00000373766.5_Missense_Mutation_p.E125D	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	125	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.E125D(2)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						TCAGTGAGGAGAAGATCCAGT	0.552																																						uc003ols.2																			2	Substitution - Missense(2)		lung(2)	breast(2)|central_nervous_system(1)	3						c.(373-375)GAG>GAC		mitogen-activated protein kinase 13							196.0	158.0	171.0					6																	36103596		2203	4300	6503	SO:0001583	missense	5603				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding	g.chr6:36103596G>C	Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.375G>C	6.37:g.36103596G>C	ENSP00000211287:p.Glu125Asp					MAPK13_uc003olt.2_RNA	p.E125D	NM_002754	NP_002745	O15264	MK13_HUMAN			4	473	+			125			Protein kinase.		O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	Missense_Mutation	SNP	ENST00000211287.4	37	c.375G>C	CCDS4818.1	.	.	.	.	.	.	.	.	.	.	G	2.437	-0.329577	0.05314	.	.	ENSG00000156711	ENST00000373761;ENST00000211287;ENST00000373770;ENST00000373766;ENST00000373759	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	4.71	-4.29	0.03721	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.646728	0.13932	N	0.352839	T	0.09774	0.0240	N	0.17379	0.485	0.28574	N	0.910456	B	0.02656	0.0	B	0.01281	0.0	T	0.16867	-1.0388	10	0.02654	T	1	-7.4563	0.3531	0.00352	0.231:0.2208:0.2663:0.2819	.	125	O15264	MK13_HUMAN	D	125;125;125;125;47	ENSP00000362866:E125D;ENSP00000211287:E125D;ENSP00000362871:E125D;ENSP00000362864:E47D	ENSP00000211287:E125D	E	+	3	2	MAPK13	36211574	0.857000	0.29778	0.961000	0.40146	0.902000	0.53008	0.035000	0.13797	-0.807000	0.04393	-1.138000	0.01928	GAG		PASS	0.552	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1			23	109	23	109	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38793996	38793996	+	Silent	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr6:38793996G>C	ENST00000359357.3	+	27	3515	c.3261G>C	c.(3259-3261)ctG>ctC	p.L1087L	DNAH8_ENST00000449981.2_Silent_p.L1304L|DNAH8_ENST00000441566.1_Silent_p.L1087L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1087					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)	p.L1087L(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTCGATATCTGAATGAAGAAT	0.323																																						uc003ooe.1																			2	Substitution - coding silent(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(3259-3261)CTG>CTC		dynein, axonemal, heavy polypeptide 8							86.0	82.0	83.0					6																	38793996		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38793996G>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3261G>C	6.37:g.38793996G>C							p.L1087L	NM_001371	NP_001362					27	3861	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.3261G>C																																																																																					PASS	0.323	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		18	77	18	77	---	---	---	---
BEND6	221336	broad.mit.edu	37	6	56857268	56857268	+	Silent	SNP	C	C	T	rs377361378		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr6:56857268C>T	ENST00000370746.3	+	3	482	c.213C>T	c.(211-213)tgC>tgT	p.C71C	BEND6_ENST00000370750.2_Silent_p.C71C|BEND6_ENST00000370748.3_Silent_p.C71C|BEND6_ENST00000370745.1_Silent_p.C71C	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	71					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)	p.C71C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AAGAATTGTGCGCCAAAATAA	0.413																																						uc010kab.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(211-213)TGC>TGT		BEN domain containing 6		C		0,3630		0,0,1815	129.0	133.0	132.0		213	-0.4	0.8	6		132	1,8159		0,1,4079	no	coding-synonymous	BEND6	NM_152731.2		0,1,5894	TT,TC,CC		0.0123,0.0,0.0085		71/280	56857268	1,11789	1815	4080	5895	SO:0001819	synonymous_variant	221336							g.chr6:56857268C>T	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.213C>T	6.37:g.56857268C>T						BEND6_uc003pdg.2_RNA	p.C71C	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN			3	799	+			71			Potential.		Q4G0W8|Q8N662|Q96NS6	Silent	SNP	ENST00000370746.3	37	c.213C>T	CCDS43476.1																																																																																				PASS	0.413	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		11	211	11	211	---	---	---	---
BAI3	577	broad.mit.edu	37	6	70037782	70037782	+	Splice_Site	SNP	G	G	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr6:70037782G>T	ENST00000370598.1	+	22	3856		c.e22+1		BAI3_ENST00000238918.8_Splice_Site	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3						G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.?(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTGATCACTAGTAAGTCCATC	0.393																																						uc003pev.3																			1	Unknown(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.e22+1		brain-specific angiogenesis inhibitor 3							129.0	107.0	115.0					6																	70037782		2203	4300	6503	SO:0001630	splice_region_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70037782G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3035+1G>T	6.37:g.70037782G>T						BAI3_uc010kak.2_Splice_Site_p.Y1012_splice|BAI3_uc011dxx.1_Splice_Site_p.Y218_splice|BAI3_uc003pex.1_Splice_Site_p.Y142_splice	p.Y1012_splice	NM_001704	NP_001695	O60242	BAI3_HUMAN			22	3483	+		all_lung(197;0.212)						B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Splice_Site	SNP	ENST00000370598.1	37	c.3035_splice	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544866	0.86022	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	.	.	.	5.75	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.93	0.70908	0.0688:0.0:0.9312:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BAI3	70094503	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.827000	0.99397	1.437000	0.47472	0.655000	0.94253	.		PASS	0.393	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		Intron	19	82	19	82	---	---	---	---
FAM135A	57579	broad.mit.edu	37	6	71235668	71235668	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr6:71235668A>G	ENST00000418814.2	+	15	3495	c.2881A>G	c.(2881-2883)Aca>Gca	p.T961A	FAM135A_ENST00000361499.3_Missense_Mutation_p.T765A|FAM135A_ENST00000457062.2_Missense_Mutation_p.T748A|FAM135A_ENST00000370479.3_Missense_Mutation_p.T748A|FAM135A_ENST00000505868.1_Missense_Mutation_p.T961A|FAM135A_ENST00000505769.1_Missense_Mutation_p.T541A	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	961								p.T961A(1)|p.T748A(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TAATAACTCTACAGGGACAGC	0.368																																						uc003pfj.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(2881-2883)ACA>GCA		hypothetical protein LOC57579 isoform c							52.0	53.0	52.0					6																	71235668		2203	4298	6501	SO:0001583	missense	57579							g.chr6:71235668A>G	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2881A>G	6.37:g.71235668A>G	ENSP00000410768:p.Thr961Ala					FAM135A_uc003pfi.2_Missense_Mutation_p.T765A|FAM135A_uc003pfh.2_Missense_Mutation_p.T748A|FAM135A_uc003pfl.2_Missense_Mutation_p.T628A|FAM135A_uc003pfn.2_Missense_Mutation_p.T167A|FAM135A_uc003pfo.1_Missense_Mutation_p.T332A|FAM135A_uc010kan.1_5'Flank	p.T961A	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN			13	3014	+			961					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.2881A>G	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	A	5.165	0.216032	0.09810	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.21361	2.33;2.32;2.01;2.32;2.32;2.32	5.96	1.47	0.22746	.	0.989097	0.08244	N	0.975633	T	0.02342	0.0072	N	0.05383	-0.06	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.0;0.001;0.002	T	0.46925	-0.9156	10	0.13853	T	0.58	.	4.1742	0.10345	0.4046:0.0:0.4385:0.1569	.	961;961;765;748	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	A	961;748;541;748;765;961	ENSP00000410768:T961A;ENSP00000359510:T748A;ENSP00000423785:T541A;ENSP00000409201:T748A;ENSP00000354913:T765A;ENSP00000423307:T961A	ENSP00000354913:T765A	T	+	1	0	FAM135A	71292389	0.990000	0.36364	0.017000	0.16124	0.073000	0.16967	1.061000	0.30542	0.357000	0.24183	-0.242000	0.12053	ACA		PASS	0.368	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		21	74	21	74	---	---	---	---
GABRR2	2570	broad.mit.edu	37	6	89967576	89967576	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr6:89967576T>C	ENST00000402938.3	-	9	1344	c.1211A>G	c.(1210-1212)cAa>cGa	p.Q404R	GABRR2_ENST00000602399.1_Missense_Mutation_p.Q429R	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	404					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Q404R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TATTTTGTCTTGCCTTTCTTC	0.517																																						uc003pnb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1285-1287)CAA>CGA		gamma-aminobutyric acid (GABA) receptor, rho 2							137.0	119.0	125.0					6																	89967576		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89967576T>C		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.1211A>G	6.37:g.89967576T>C	ENSP00000386029:p.Gln404Arg					GABRR2_uc011dzx.1_Missense_Mutation_p.Q305R	p.Q429R	NM_002043	NP_002034	P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	9	1294	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	429			Cytoplasmic (Probable).		A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.1286A>G	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	T	4.402	0.074194	0.08485	.	.	ENSG00000111886	ENST00000402938	D	0.82984	-1.67	5.81	3.34	0.38264	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.313914	0.35096	N	0.003444	T	0.70579	0.3240	M	0.72479	2.2	0.41191	D	0.986306	B	0.10296	0.003	B	0.12837	0.008	T	0.64681	-0.6350	9	.	.	.	.	13.6528	0.62320	0.0:0.0:0.3616:0.6384	.	429	P28476	GBRR2_HUMAN	R	429	ENSP00000386029:Q429R	.	Q	-	2	0	GABRR2	90024295	0.918000	0.31147	0.990000	0.47175	0.516000	0.34256	1.170000	0.31883	0.421000	0.25980	0.528000	0.53228	CAA		PASS	0.517	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			7	73	7	73	---	---	---	---
PRDM13	59336	broad.mit.edu	37	6	100061058	100061058	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr6:100061058C>A	ENST00000369215.4	+	4	852	c.547C>A	c.(547-549)Cca>Aca	p.P183T		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	183					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.P183T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		AGGCGCCGTCCCAGCGGCTGA	0.697																																						uc003pqg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(547-549)CCA>ACA		PR domain containing 13							20.0	23.0	22.0					6																	100061058		1911	4106	6017	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100061058C>A	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.547C>A	6.37:g.100061058C>A	ENSP00000358217:p.Pro183Thr						p.P183T	NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	808	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	183					Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.547C>A	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.360291	0.24598	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.05319	3.46;3.46	5.0	3.19	0.36642	.	0.178824	0.27105	N	0.020913	T	0.01661	0.0053	L	0.27053	0.805	0.09310	N	1	B	0.27559	0.181	B	0.21708	0.036	T	0.43972	-0.9358	10	0.24483	T	0.36	-4.5004	14.9095	0.70746	0.0:0.7277:0.2723:0.0	.	183	Q9H4Q3	PRD13_HUMAN	T	183;193	ENSP00000358217:P183T;ENSP00000358216:P193T	ENSP00000358216:P193T	P	+	1	0	PRDM13	100167779	0.000000	0.05858	0.001000	0.08648	0.759000	0.43091	0.412000	0.21131	0.489000	0.27749	0.557000	0.71058	CCA		PASS	0.697	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			15	33	15	33	---	---	---	---
VGLL2	245806	broad.mit.edu	37	6	117586987	117586987	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr6:117586987G>T	ENST00000326274.5	+	1	251	c.61G>T	c.(61-63)Gcc>Tcc	p.A21S	VGLL2_ENST00000352536.3_Missense_Mutation_p.A21S	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	21					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.A21S(1)		central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CTTCGCAGCCGCCTACACCCC	0.582																																						uc003pxn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(61-63)GCC>TCC		vestigial-like 2 isoform 1							106.0	84.0	92.0					6																	117586987		2203	4300	6503	SO:0001583	missense	245806				transcription, DNA-dependent	nucleus		g.chr6:117586987G>T	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"""vestigial like 2 (Drosophila)"""			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.61G>T	6.37:g.117586987G>T	ENSP00000320957:p.Ala21Ser					VGLL2_uc003pxo.2_Missense_Mutation_p.A21S	p.A21S	NM_182645	NP_872586	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	1	251	+			21					Q8WWX1	Missense_Mutation	SNP	ENST00000326274.5	37	c.61G>T	CCDS5115.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655215	0.67472	.	.	ENSG00000170162	ENST00000352536;ENST00000326274	T	0.50548	0.74	5.17	4.29	0.51040	.	0.145914	0.45126	D	0.000383	T	0.15435	0.0372	N	0.17082	0.46	0.44694	D	0.997683	P;P	0.43662	0.732;0.814	B;B	0.34536	0.176;0.185	T	0.03259	-1.1055	10	0.39692	T	0.17	-1.5298	13.5242	0.61584	0.0757:0.0:0.9243:0.0	.	21;21	Q8N8G2-2;Q8N8G2	.;VGLL2_HUMAN	S	21	ENSP00000320957:A21S	ENSP00000320957:A21S	A	+	1	0	VGLL2	117693680	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.808000	0.55598	1.175000	0.42826	0.563000	0.77884	GCC		PASS	0.582	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		4	74	4	74	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129826502	129826502	+	Splice_Site	SNP	T	T	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr6:129826502T>A	ENST00000421865.2	+	61	8752		c.e61+2			NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.?(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTGGTCCAGTAAATATCTGA	0.383																																						uc003qbn.2																			1	Unknown(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.e60+2		laminin alpha 2 subunit isoform a precursor							71.0	73.0	72.0					6																	129826502		2203	4300	6503	SO:0001630	splice_region_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129826502T>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8703+2T>A	6.37:g.129826502T>A						LAMA2_uc003qbo.2_Splice_Site_p.P2897_splice|uc003qbq.2_Intron	p.P2901_splice	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	60	8808	+								Q14736|Q5VUM2|Q93022	Splice_Site	SNP	ENST00000421865.2	37	c.8703_splice	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.590087	0.86851	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0998	0.81163	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA2	129868195	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	7.015000	0.76387	2.199000	0.70637	0.533000	0.62120	.		PASS	0.383	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		Intron	28	97	28	97	---	---	---	---
OPRM1	4988	broad.mit.edu	37	6	154412236	154412236	+	Missense_Mutation	SNP	C	C	T	rs17174822	byFrequency	TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr6:154412236C>T	ENST00000330432.7	+	3	1030	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	OPRM1_ENST00000434900.2_Missense_Mutation_p.R358C|OPRM1_ENST00000522236.1_Missense_Mutation_p.R165C|OPRM1_ENST00000360422.4_Missense_Mutation_p.R265C|OPRM1_ENST00000229768.5_Missense_Mutation_p.R265C|OPRM1_ENST00000428397.2_Missense_Mutation_p.R265C|OPRM1_ENST00000452687.2_Missense_Mutation_p.R265C|OPRM1_ENST00000435918.2_Missense_Mutation_p.R265C|OPRM1_ENST00000337049.4_Missense_Mutation_p.R265C|OPRM1_ENST00000524163.1_Missense_Mutation_p.R265C|OPRM1_ENST00000518759.1_Missense_Mutation_p.R184C|OPRM1_ENST00000414028.2_Missense_Mutation_p.R265C|OPRM1_ENST00000522555.1_Missense_Mutation_p.R165C|OPRM1_ENST00000419506.2_Missense_Mutation_p.R265C|OPRM1_ENST00000520708.1_Missense_Mutation_p.R165C	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	265			R -> C (in dbSNP:rs17174822). {ECO:0000269|Ref.13}.		adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.R265C(2)|p.R358C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CAAGAGTGTCCGCATGCTCTC	0.502													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20559	0.0		0.0	False		,,,				2504	0.0					uc003qpr.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(793-795)CGC>TGC		opioid receptor, mu 1 isoform MOR-1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	20,4360		1,18,2171	168.0	170.0	169.0		793,793,793,793,1072,493,550,793,793,793,793,793,493	6.0	1.0	6	dbSNP_123	169	0,8590		0,0,4295	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	OPRM1	NM_000914.3,NM_001008503.1,NM_001008504.2,NM_001008505.1,NM_001145279.2,NM_001145280.2,NM_001145281.1,NM_001145282.1,NM_001145283.1,NM_001145284.2,NM_001145285.1,NM_001145286.1,NM_001145287.1	180,180,180,180,180,180,180,180,180,180,180,180,180	1,18,6466	TT,TC,CC		0.0,0.4566,0.1542	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	265/401,265/419,265/393,265/447,358/494,165/301,184/320,265/407,265/398,265/404,265/390,265/421,165/301	154412236	20,12950	2190	4295	6485	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412236C>T	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.793C>T	6.37:g.154412236C>T	ENSP00000328264:p.Arg265Cys					OPRM1_uc011efc.1_Missense_Mutation_p.R184C|OPRM1_uc011efd.1_Missense_Mutation_p.R165C|OPRM1_uc011efe.1_Missense_Mutation_p.R358C|OPRM1_uc003qpn.2_Missense_Mutation_p.R265C|OPRM1_uc003qpo.1_Missense_Mutation_p.R265C|OPRM1_uc011eff.1_Missense_Mutation_p.R265C|OPRM1_uc011efg.1_Missense_Mutation_p.R265C|OPRM1_uc011efh.1_Missense_Mutation_p.R265C|OPRM1_uc003qpq.1_Missense_Mutation_p.R265C|OPRM1_uc003qpt.1_Missense_Mutation_p.R265C|OPRM1_uc011efi.1_Missense_Mutation_p.R265C|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.R165C|OPRM1_uc003qpu.2_Missense_Mutation_p.R165C	p.R265C	NM_000914	NP_000905	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	1030	+		Ovarian(120;0.196)	265			Cytoplasmic (Potential).		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.793C>T	CCDS55070.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	27.3	4.819133	0.90873	0.004566	0.0	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.96	5.96	0.96718	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.75554	0.3865	H	0.96720	3.87	0.80722	D	1	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	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.992;1.0;1.0	T	0.82483	-0.0435	10	0.62326	D	0.03	.	20.4192	0.99033	0.0:1.0:0.0:0.0	rs17174822;rs17174822	265;265;265;265;358;184;165;265;265;265;265;265	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	C	358;165;184;265;265;265;265;265;265;265;265;265;265;165;165	ENSP00000394624:R358C;ENSP00000430876:R165C;ENSP00000430260:R184C;ENSP00000328264:R265C;ENSP00000353598:R265C;ENSP00000411903:R265C;ENSP00000410497:R265C;ENSP00000229768:R265C;ENSP00000403549:R265C;ENSP00000430097:R265C;ENSP00000399359:R265C;ENSP00000413752:R265C;ENSP00000338381:R265C;ENSP00000429719:R165C;ENSP00000429373:R165C	ENSP00000229768:R265C	R	+	1	0	OPRM1	154453929	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.831000	0.97527	0.650000	0.86243	CGC		PASS	0.502	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		8	100	8	100	---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160525834	160525834	+	Silent	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr6:160525834C>T	ENST00000356956.1	+	48	7342	c.7194C>T	c.(7192-7194)gcC>gcT	p.A2398A	IGF2R_ENST00000475584.1_Intron	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2398					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)	p.A2398A(1)		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)	CAGTGAAAGCCCTCAGCTCCC	0.572																																						uc003qta.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(7192-7194)GCC>GCT		insulin-like growth factor 2 receptor precursor							108.0	85.0	93.0					6																	160525834		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:160525834C>T	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.7194C>T	6.37:g.160525834C>T							p.A2398A	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	48	7342	+		Breast(66;0.000777)|Ovarian(120;0.0305)	2398			Cytoplasmic (Potential).		Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	c.7194C>T	CCDS5273.1																																																																																				PASS	0.572	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		3	72	3	72	---	---	---	---
PMS2	5395	broad.mit.edu	37	7	6026709	6026709	+	Nonsense_Mutation	SNP	G	G	A	rs587778618		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr7:6026709G>A	ENST00000265849.7	-	11	1792	c.1687C>T	c.(1687-1689)Cga>Tga	p.R563*	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000441476.2_Nonsense_Mutation_p.R457*	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	563					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)	p.R563*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GGCAAAACTCGAAATTTACAT	0.408			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003spl.2			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	Mis|N|F	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		colorectal|endometrial|ovarian|medulloblastoma|glioma			1	Substitution - Nonsense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(1687-1689)CGA>TGA	Direct_reversal_of_damage|MMR	PMS2 postmeiotic segregation increased 2 isoform							121.0	130.0	127.0					7																	6026709		2203	4300	6503	SO:0001587	stop_gained	5395	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6026709G>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1687C>T	7.37:g.6026709G>A	ENSP00000265849:p.Arg563*					PMS2_uc003spj.2_Nonsense_Mutation_p.R457*|PMS2_uc003spk.2_Nonsense_Mutation_p.R428*|PMS2_uc011jwl.1_Nonsense_Mutation_p.R428*|PMS2_uc010ktg.2_Nonsense_Mutation_p.R252*|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Intron	p.R563*	NM_000535	NP_000526	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	11	1774	-		Ovarian(82;0.0694)	563					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Nonsense_Mutation	SNP	ENST00000265849.7	37	c.1687C>T	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	g	27.8	4.862038	0.91433	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476	.	.	.	5.95	-5.02	0.02982	.	17.826000	0.00166	N	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-5.6064	10.3582	0.43977	0.0:0.1217:0.5645:0.3138	.	.	.	.	X	563;516;457	.	ENSP00000265849:R563X	R	-	1	2	PMS2	5993235	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.547000	0.23299	-1.135000	0.02895	-0.276000	0.10085	CGA		PASS	0.408	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		47	336	47	336	---	---	---	---
RSBN1L	222194	broad.mit.edu	37	7	77325886	77325886	+	Missense_Mutation	SNP	C	C	T	rs376749582		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr7:77325886C>T	ENST00000334955.8	+	1	127	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	RSBN1L_ENST00000445288.1_5'Flank|RSBN1L-AS1_ENST00000440088.1_lincRNA	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	34						nucleus (GO:0005634)		p.R34W(1)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACTCTCCTCCCGGGACCCTCC	0.667																																						uc010ldt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(100-102)CGG>TGG		round spermatid basic protein 1-like							41.0	53.0	50.0					7																	77325886		1875	4110	5985	SO:0001583	missense	222194					nucleus		g.chr7:77325886C>T	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.100C>T	7.37:g.77325886C>T	ENSP00000334040:p.Arg34Trp					RSBN1L_uc003ugm.2_5'Flank|uc003ugj.1_RNA	p.R34W	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN			1	144	+			34					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	c.100C>T	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	C	9.263	1.043681	0.19748	.	.	ENSG00000187257	ENST00000334955	.	.	.	4.16	2.23	0.28157	.	0.410430	0.17921	N	0.157506	T	0.32224	0.0822	L	0.27053	0.805	0.40072	D	0.976029	D	0.59767	0.986	B	0.43123	0.409	T	0.12785	-1.0534	9	0.87932	D	0	0.0086	6.1021	0.20053	0.3399:0.4458:0.2143:0.0	.	34	Q6PCB5	RSBNL_HUMAN	W	34	.	ENSP00000334040:R34W	R	+	1	2	RSBN1L	77163822	0.995000	0.38212	0.564000	0.28396	0.032000	0.12392	1.419000	0.34793	0.433000	0.26313	0.467000	0.42956	CGG		PASS	0.667	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		19	68	19	68	---	---	---	---
RSBN1L	222194	broad.mit.edu	37	7	77407731	77407731	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr7:77407731C>T	ENST00000334955.8	+	7	1897	c.1870C>T	c.(1870-1872)Cag>Tag	p.Q624*	RSBN1L_ENST00000445288.1_Nonsense_Mutation_p.Q354*	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	624						nucleus (GO:0005634)		p.Q624*(1)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCAACGAATGCAGTTAGATTT	0.323																																						uc010ldt.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1870-1872)CAG>TAG		round spermatid basic protein 1-like							132.0	117.0	121.0					7																	77407731		1839	4100	5939	SO:0001587	stop_gained	222194					nucleus		g.chr7:77407731C>T	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.1870C>T	7.37:g.77407731C>T	ENSP00000334040:p.Gln624*					RSBN1L_uc003ugm.2_Nonsense_Mutation_p.Q406*	p.Q624*	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN			7	1914	+			624					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Nonsense_Mutation	SNP	ENST00000334955.8	37	c.1870C>T	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287496	0.59976	.	.	ENSG00000187257	ENST00000334955;ENST00000445288;ENST00000445512;ENST00000441514	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-15.4098	20.6721	0.99693	0.0:1.0:0.0:0.0	.	.	.	.	X	624;354;162;130	.	ENSP00000334040:Q624X	Q	+	1	0	RSBN1L	77245667	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.440000	0.80464	2.894000	0.99253	0.591000	0.81541	CAG		PASS	0.323	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		12	154	12	154	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82584106	82584106	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr7:82584106C>T	ENST00000333891.9	-	5	6500	c.6163G>A	c.(6163-6165)Gaa>Aaa	p.E2055K	PCLO_ENST00000423517.2_Missense_Mutation_p.E2055K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E2055K(2)|p.E1986K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTTTCCTTTCTTCTTCTGTA	0.443																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(6163-6165)GAA>AAA		piccolo isoform 1							86.0	81.0	82.0					7																	82584106		1903	4117	6020	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584106C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6163G>A	7.37:g.82584106C>T	ENSP00000334319:p.Glu2055Lys					PCLO_uc003uhv.2_Missense_Mutation_p.E2055K	p.E2055K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	6452	-			1986						Missense_Mutation	SNP	ENST00000333891.9	37	c.6163G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	5.523	0.281365	0.10458	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17854	2.25;2.25	5.64	5.64	0.86602	.	.	.	.	.	T	0.30448	0.0765	L	0.51422	1.61	0.80722	D	1	D;D	0.56521	0.976;0.976	P;P	0.51615	0.675;0.675	T	0.01059	-1.1465	9	0.87932	D	0	.	19.6979	0.96034	0.0:1.0:0.0:0.0	.	2055;2055	Q9Y6V0-5;Q9Y6V0-6	.;.	K	1986;2055;2055	ENSP00000334319:E2055K;ENSP00000388393:E2055K	ENSP00000334319:E2055K	E	-	1	0	PCLO	82422042	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	3.207000	0.51106	2.660000	0.90430	0.561000	0.74099	GAA		PASS	0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		18	77	18	77	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82784553	82784553	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr7:82784553C>A	ENST00000333891.9	-	2	1741	c.1404G>T	c.(1402-1404)aaG>aaT	p.K468N	PCLO_ENST00000423517.2_Missense_Mutation_p.K468N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.K468N(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTGAAGGAGGCTTTGTTGGGC	0.607																																						uc003uhx.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(1402-1404)AAG>AAT		piccolo isoform 1							65.0	69.0	68.0					7																	82784553		1979	4155	6134	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784553C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1404G>T	7.37:g.82784553C>A	ENSP00000334319:p.Lys468Asn					PCLO_uc003uhv.2_Missense_Mutation_p.K468N	p.K468N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	1693	-			419			Gln-rich.|Pro-rich.|10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1404G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	1.152	-0.646256	0.03531	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.19532	2.16;2.14	3.65	-3.62	0.04543	.	.	.	.	.	T	0.33440	0.0863	L	0.49778	1.585	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.63793	0.918;0.918	T	0.31724	-0.9933	9	0.87932	D	0	.	11.6236	0.51132	0.0:0.3991:0.0:0.6009	.	468;468	Q9Y6V0-5;Q9Y6V0-6	.;.	N	468	ENSP00000334319:K468N;ENSP00000388393:K468N	ENSP00000334319:K468N	K	-	3	2	PCLO	82622489	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.805000	0.00362	-1.050000	0.03230	-0.136000	0.14681	AAG		PASS	0.607	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		10	124	10	124	---	---	---	---
CCDC132	55610	broad.mit.edu	37	7	92938172	92938172	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr7:92938172G>C	ENST00000305866.5	+	19	1794	c.1666G>C	c.(1666-1668)Gag>Cag	p.E556Q	CCDC132_ENST00000317751.6_Missense_Mutation_p.E287Q|CCDC132_ENST00000544910.1_Missense_Mutation_p.E526Q|CCDC132_ENST00000535481.1_Missense_Mutation_p.E276Q|CCDC132_ENST00000541136.1_Missense_Mutation_p.E367Q	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	556						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.E556Q(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCCTATCAAGAGTATGACAG	0.403																																						uc003umo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1666-1668)GAG>CAG		coiled-coil domain containing 132 isoform a							140.0	132.0	134.0					7																	92938172		1910	4135	6045	SO:0001583	missense	55610							g.chr7:92938172G>C	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1666G>C	7.37:g.92938172G>C	ENSP00000307666:p.Glu556Gln					CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.E526Q|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.E276Q	p.E556Q	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		19	1794	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		556					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.1666G>C	CCDS43617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.012198|4.012198	0.75046|0.75046	.|.	.|.	ENSG00000004766|ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751|ENST00000458707	T|.	0.47528|.	0.84|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.183620|.	0.47093|.	D|.	0.000257|.	T|T	0.65709|0.65709	0.2717|0.2717	L|L	0.36672|0.36672	1.1|1.1	0.58432|0.58432	D|D	0.999999|0.999999	P;B;B|.	0.35155|.	0.487;0.241;0.319|.	B;B;B|.	0.34931|.	0.146;0.192;0.146|.	T|T	0.60469|0.60469	-0.7257|-0.7257	10|5	0.46703|.	T|.	0.11|.	-9.0961|-9.0961	19.3667|19.3667	0.94466|0.94466	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	276;526;556|.	B4DS55;F5H5U7;Q96JG6|.	.;.;CC132_HUMAN|.	Q|N	556;526;367;276;287|342	ENSP00000325582:E287Q|.	ENSP00000307666:E556Q|.	E|K	+|+	1|3	0|2	CCDC132|CCDC132	92776108|92776108	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	9.758000|9.758000	0.98927|0.98927	2.655000|2.655000	0.90218|0.90218	0.650000|0.650000	0.86243|0.86243	GAG|AAG		PASS	0.403	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		6	101	6	101	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100676942	100676942	+	Silent	SNP	T	T	C	rs71557224		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr7:100676942T>C	ENST00000306151.4	+	3	2309	c.2245T>C	c.(2245-2247)Tta>Cta	p.L749L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	749	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.L749L(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGCACTCCATTAACAAGTAT	0.488																																						uc003uxp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2245-2247)TTA>CTA		mucin 17 precursor							302.0	304.0	303.0					7																	100676942		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676942T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2245T>C	7.37:g.100676942T>C						MUC17_uc010lho.1_RNA	p.L749L	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	2298	+	Lung NSC(181;0.136)|all_lung(186;0.182)		749			Extracellular (Potential).|Ser-rich.|10.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.2245T>C	CCDS34711.1																																																																																				PASS	0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		13	394	13	394	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100678647	100678647	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr7:100678647C>T	ENST00000306151.4	+	3	4014	c.3950C>T	c.(3949-3951)tCa>tTa	p.S1317L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1317	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S1317L(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGTCAGTTCATCTCCTACA	0.488																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(3949-3951)TCA>TTA		mucin 17 precursor							245.0	230.0	235.0					7																	100678647		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678647C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3950C>T	7.37:g.100678647C>T	ENSP00000302716:p.Ser1317Leu					MUC17_uc010lho.1_RNA	p.S1317L	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4003	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1317			Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3950C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	4.239	0.043361	0.08196	.	.	ENSG00000169876	ENST00000306151	T	0.02606	4.23	0.471	0.471	0.16752	.	.	.	.	.	T	0.01661	0.0053	L	0.29908	0.895	0.09310	N	1	P	0.42584	0.784	B	0.28638	0.092	T	0.49184	-0.8966	8	0.16420	T	0.52	.	.	.	.	.	1317	Q685J3	MUC17_HUMAN	L	1317	ENSP00000302716:S1317L	ENSP00000302716:S1317L	S	+	2	0	MUC17	100465367	0.003000	0.15002	0.005000	0.12908	0.020000	0.10135	2.170000	0.42443	0.558000	0.29135	0.134000	0.15878	TCA		PASS	0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		53	305	53	305	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100678759	100678759	+	Silent	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr7:100678759C>T	ENST00000306151.4	+	3	4126	c.4062C>T	c.(4060-4062)atC>atT	p.I1354I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1354	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.I1354I(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTTCTGCAATCAGCATCCTTT	0.468																																						uc003uxp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4060-4062)ATC>ATT		mucin 17 precursor							235.0	232.0	233.0					7																	100678759		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678759C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4062C>T	7.37:g.100678759C>T						MUC17_uc010lho.1_RNA	p.I1354I	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4115	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1354			Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.4062C>T	CCDS34711.1																																																																																				PASS	0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		58	336	58	336	---	---	---	---
ATXN7L1	222255	broad.mit.edu	37	7	105516986	105516986	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr7:105516986G>C	ENST00000419735.3	-	1	64	c.19C>G	c.(19-21)Cga>Gga	p.R7G	ATXN7L1_ENST00000318724.4_Missense_Mutation_p.R7G|ATXN7L1_ENST00000478915.1_5'Flank	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	7								p.R7G(2)		endometrium(1)|large_intestine(4)|lung(5)	10						CACGGGATTCGAGAACGCTCC	0.597																																						uc003vde.2																			2	Substitution - Missense(2)		lung(2)		0						c.(19-21)CGA>GGA		ataxin 7-like 1 isoform 1							74.0	65.0	68.0					7																	105516986		2203	4300	6503	SO:0001583	missense	222255							g.chr7:105516986G>C	AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.19C>G	7.37:g.105516986G>C	ENSP00000410759:p.Arg7Gly					ATXN7L1_uc003vdi.2_Missense_Mutation_p.R7G|CDHR3_uc003vdk.2_5'Flank|uc003vdj.1_5'Flank	p.R7G	NM_020725	NP_065776	Q9ULK2	AT7L1_HUMAN			1	46	-			7					A4D0Q2|B4DTS1|Q8N2T0	Missense_Mutation	SNP	ENST00000419735.3	37	c.19C>G	CCDS47682.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315999	0.81469	.	.	ENSG00000146776	ENST00000419735;ENST00000318724	T	0.17370	2.28	4.68	4.68	0.58851	.	.	.	.	.	T	0.33469	0.0864	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.989	T	0.07177	-1.0786	9	0.54805	T	0.06	.	17.9693	0.89108	0.0:0.0:1.0:0.0	.	7;7	A4D0Q2;Q9ULK2	.;AT7L1_HUMAN	G	7	ENSP00000410759:R7G	ENSP00000326344:R7G	R	-	1	2	ATXN7L1	105304222	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.530000	0.67141	2.294000	0.77228	0.485000	0.47835	CGA		PASS	0.597	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349037.2			3	42	3	42	---	---	---	---
PTN	5764	broad.mit.edu	37	7	136938275	136938275	+	Silent	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr7:136938275C>T	ENST00000348225.2	-	3	652	c.225G>A	c.(223-225)gaG>gaA	p.E75E	PTN_ENST00000393083.2_Silent_p.E75E	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	75				E -> G (in Ref. 9; AAV38498). {ECO:0000305}.	bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)	p.E75E(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TTTGCTTGCACTCAGCTCCAG	0.537																																						uc003vtq.2																			1	Substitution - coding silent(1)	p.E75Q(1)	lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(223-225)GAG>GAA		pleiotrophin							139.0	115.0	123.0					7																	136938275		2203	4300	6503	SO:0001819	synonymous_variant	5764				nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	g.chr7:136938275C>T	M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"""Endogenous ligands"""	9630	protein-coding gene	gene with protein product	"""heparin binding growth factor 8"""	162095	"""neurite growth-promoting factor 1"""	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.225G>A	7.37:g.136938275C>T						PTN_uc010lmx.2_Silent_p.E75E|PTN_uc003vtr.1_Silent_p.E75E	p.E75E	NM_002825	NP_002816	P21246	PTN_HUMAN			3	588	-			75	E -> G (in Ref. 9; AAV38498).				Q5U0B0|Q6ICQ5|Q9UCC6	Silent	SNP	ENST00000348225.2	37	c.225G>A	CCDS5844.1																																																																																				PASS	0.537	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825		13	90	13	90	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147259273	147259273	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr7:147259273G>C	ENST00000361727.3	+	12	2337	c.1821G>C	c.(1819-1821)caG>caC	p.Q607H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	607	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.Q607H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACCTAGGACAGACATCAAATT	0.428										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1819-1821)CAG>CAC		cell recognition molecule Caspr2 precursor							114.0	108.0	110.0					7																	147259273		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147259273G>C	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1821G>C	7.37:g.147259273G>C	ENSP00000354778:p.Gln607His	HNSCC(39;0.1)					p.Q607H	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		12	2337	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	607			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1821G>C	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941449	0.34283	.	.	ENSG00000174469	ENST00000361727	T	0.09630	2.96	5.93	4.95	0.65309	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.261489	0.30519	N	0.009456	T	0.04497	0.0123	N	0.05351	-0.065	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45279	-0.9272	10	0.18710	T	0.47	.	4.806	0.13321	0.2609:0.0:0.7391:0.0	.	607	Q9UHC6	CNTP2_HUMAN	H	607	ENSP00000354778:Q607H	ENSP00000354778:Q607H	Q	+	3	2	CNTNAP2	146890206	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	3.670000	0.54569	2.797000	0.96272	0.655000	0.94253	CAG		PASS	0.428	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			13	110	13	110	---	---	---	---
EZH2	2146	broad.mit.edu	37	7	148515180	148515180	+	Silent	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr7:148515180G>C	ENST00000460911.1	-	10	1102	c.1014C>G	c.(1012-1014)ctC>ctG	p.L338L	EZH2_ENST00000483967.1_Silent_p.L329L|EZH2_ENST00000320356.2_Silent_p.L343L|RNU7-20P_ENST00000515903.1_RNA|EZH2_ENST00000478654.1_Silent_p.L329L|EZH2_ENST00000541220.1_Silent_p.L329L|EZH2_ENST00000350995.2_Silent_p.L299L|EZH2_ENST00000536783.1_3'UTR|EZH2_ENST00000476773.1_Silent_p.L329L			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	338	Interaction with CDYL.|Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.L343L(1)|p.L299L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GCTCAGCGGTGAGAGCAGCAG	0.478			Mis		DLBCL																																	uc003wfd.1				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183						c.(1012-1014)CTC>CTG		enhancer of zeste 2 isoform a							111.0	109.0	110.0					7																	148515180		2203	4300	6503	SO:0001819	synonymous_variant	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148515180G>C		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1014C>G	7.37:g.148515180G>C						EZH2_uc011kug.1_Silent_p.L329L|EZH2_uc003wfb.1_Silent_p.L343L|EZH2_uc003wfc.1_Silent_p.L299L|EZH2_uc011kuh.1_Silent_p.L329L|EZH2_uc011kui.1_Silent_p.L338L|EZH2_uc011kuj.1_RNA	p.L338L	NM_004456	NP_004447	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		10	1180	-	Melanoma(164;0.15)		338			Interaction with DNMT1, DNMT3A and DNMT3B.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Silent	SNP	ENST00000460911.1	37	c.1014C>G	CCDS56516.1																																																																																				PASS	0.478	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		17	224	17	224	---	---	---	---
UBXN8	7993	broad.mit.edu	37	8	30623805	30623805	+	RNA	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr8:30623805C>A	ENST00000519246.1	+	0	906							O00124	UBXN8_HUMAN	UBX domain protein 8						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|single fertilization (GO:0007338)	integral component of endoplasmic reticulum membrane (GO:0030176)		p.S235S(1)		central_nervous_system(1)|lung(2)	3						TTTCTACTTCCTTTCCCAGAC	0.473																																					Colon(169;855 1943 17895 39459 47884)	uc003xii.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(706-708)TCC>TCA		reproduction 8							69.0	66.0	67.0					8																	30623805		1895	4112	6007			7993				single fertilization			g.chr8:30623805C>A	D83767	CCDS75723.1, CCDS75724.1, CCDS75725.1	8p12-p11.2	2012-07-06	2008-07-25	2008-07-25		ENSG00000104691		"""UBX domain containing"""	30307	protein-coding gene	gene with protein product		602155	"""UBX domain containing 6"""	UBXD6		9027507, 21949850	Standard	NM_005671		Approved	D8S2298E, REP8	uc003xii.3	O00124			8.37:g.30623805C>A						UBXN8_uc010lvi.2_3'UTR|UBXN8_uc011lbb.1_RNA|UBXN8_uc003xij.2_RNA	p.S236S	NM_005671	NP_005662	O00124	UBXN8_HUMAN			10	725	+			236			UBX.		Q7Z6F2	Silent	SNP	ENST00000519246.1	37	c.708C>A																																																																																					PASS	0.473	UBXN8-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000375957.1	NM_005671		4	66	4	66	---	---	---	---
HTRA4	203100	broad.mit.edu	37	8	38832597	38832597	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr8:38832597G>A	ENST00000302495.4	+	2	614	c.514G>A	c.(514-516)Gcg>Acg	p.A172T	CTD-2544N14.3_ENST00000520863.1_RNA	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	172					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.A172T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CTTCATCGCCGCGGTGGTGGA	0.567																																						uc003xmj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(514-516)GCG>ACG		HtrA serine peptidase 4 precursor							147.0	146.0	147.0					8																	38832597		2203	4300	6503	SO:0001583	missense	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38832597G>A	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.514G>A	8.37:g.38832597G>A	ENSP00000305919:p.Ala172Thr						p.A172T	NM_153692	NP_710159	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		2	629	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	172					Q542Z4|Q6PF13	Missense_Mutation	SNP	ENST00000302495.4	37	c.514G>A	CCDS6110.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739636	0.30774	.	.	ENSG00000169495	ENST00000302495	D	0.88586	-2.4	5.34	0.317	0.15861	Peptidase cysteine/serine, trypsin-like (1);	0.885835	0.09619	N	0.777826	T	0.80491	0.4633	L	0.44542	1.39	0.09310	N	1	P	0.34462	0.454	B	0.26969	0.075	T	0.68880	-0.5292	10	0.72032	D	0.01	-26.0832	3.3083	0.07007	0.1352:0.118:0.5031:0.2437	.	172	P83105	HTRA4_HUMAN	T	172	ENSP00000305919:A172T	ENSP00000305919:A172T	A	+	1	0	HTRA4	38951754	0.014000	0.17966	0.000000	0.03702	0.220000	0.24768	1.751000	0.38339	-0.150000	0.11195	-0.467000	0.05162	GCG		PASS	0.567	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		13	869	13	869	---	---	---	---
ADAM9	8754	broad.mit.edu	37	8	38880712	38880712	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr8:38880712G>C	ENST00000487273.2	+	9	860	c.782G>C	c.(781-783)gGa>gCa	p.G261A		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	261	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.G261A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GTGCTAGTTGGACTGGAGATT	0.373																																						uc003xmr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(781-783)GGA>GCA		ADAM metallopeptidase domain 9 isoform 1							148.0	135.0	140.0					8																	38880712		2203	4300	6503	SO:0001583	missense	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38880712G>C	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.782G>C	8.37:g.38880712G>C	ENSP00000419446:p.Gly261Ala					ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA	p.G261A	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		9	860	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	261			Extracellular (Potential).|Peptidase M12B.		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	c.782G>C	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988667	0.93106	.	.	ENSG00000168615	ENST00000487273	T	0.09911	2.93	6.04	6.04	0.98038	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.045006	0.85682	D	0.000000	T	0.34279	0.0892	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.00430	-1.1744	10	0.72032	D	0.01	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	261	Q13443	ADAM9_HUMAN	A	261	ENSP00000419446:G261A	ENSP00000369249:G261A	G	+	2	0	ADAM9	38999869	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.358000	0.97109	2.873000	0.98535	0.563000	0.77884	GGA		PASS	0.373	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			81	735	81	735	---	---	---	---
ADAM9	8754	broad.mit.edu	37	8	38880725	38880725	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr8:38880725G>C	ENST00000487273.2	+	9	873	c.795G>C	c.(793-795)tgG>tgC	p.W265C		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	265	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.W265C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TGGAGATTTGGACCAATGGAA	0.398																																						uc003xmr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(793-795)TGG>TGC		ADAM metallopeptidase domain 9 isoform 1							160.0	145.0	151.0					8																	38880725		2203	4300	6503	SO:0001583	missense	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38880725G>C	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.795G>C	8.37:g.38880725G>C	ENSP00000419446:p.Trp265Cys					ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA	p.W265C	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		9	873	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	265			Extracellular (Potential).|Peptidase M12B.		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	c.795G>C	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444513	0.83993	.	.	ENSG00000168615	ENST00000487273	D	0.86562	-2.14	5.91	5.91	0.95273	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.104081	0.64402	D	0.000001	D	0.96256	0.8779	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96923	0.9675	10	0.87932	D	0	.	20.2946	0.98546	0.0:0.0:1.0:0.0	.	265	Q13443	ADAM9_HUMAN	C	265	ENSP00000419446:W265C	ENSP00000369249:W265C	W	+	3	0	ADAM9	38999882	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.358000	0.97109	2.804000	0.96469	0.462000	0.41574	TGG		PASS	0.398	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			197	651	197	651	---	---	---	---
ADAM9	8754	broad.mit.edu	37	8	38880818	38880818	+	Silent	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr8:38880818G>C	ENST00000487273.2	+	9	966	c.888G>C	c.(886-888)cgG>cgC	p.R296R		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	296	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.R296R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TCACACGTCGGAGACATGACA	0.368																																						uc003xmr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(886-888)CGG>CGC		ADAM metallopeptidase domain 9 isoform 1							127.0	112.0	117.0					8																	38880818		2203	4300	6503	SO:0001819	synonymous_variant	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38880818G>C	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.888G>C	8.37:g.38880818G>C						ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA	p.R296R	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		9	966	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	296			Extracellular (Potential).|Peptidase M12B.		B7ZLN7|Q10718|Q8NFM6	Silent	SNP	ENST00000487273.2	37	c.888G>C	CCDS6112.1																																																																																				PASS	0.368	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			82	525	82	525	---	---	---	---
IKBKB	3551	broad.mit.edu	37	8	42176941	42176941	+	Splice_Site	SNP	T	T	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr8:42176941T>G	ENST00000520810.1	+	14	1702		c.e14+2		IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Splice_Site|IKBKB_ENST00000522785.1_Splice_Site|IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000379708.3_Splice_Site	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta						B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|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)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.?(1)		breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TTGGGATCAGTGAGTGTGCAC	0.393											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xow.1																			1	Unknown(1)		lung(1)	breast(3)|ovary(2)|lung(1)|skin(1)	7						c.e14+2		inhibitor of nuclear factor kappa B kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						114.0	106.0	109.0					8																	42176941		2203	4300	6503	SO:0001630	splice_region_variant	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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 transcription, DNA-dependent|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42176941T>G	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1516+2T>G	8.37:g.42176941T>G			OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	906	IKBKB_uc010lxh.1_Missense_Mutation_p.S401R|IKBKB_uc011lco.1_Splice_Site|IKBKB_uc010lxj.1_Splice_Site_p.T283_splice|IKBKB_uc003xox.1_Splice_Site_p.T227_splice|IKBKB_uc011lcp.1_Splice_Site|IKBKB_uc011lcq.1_Splice_Site_p.T504_splice|IKBKB_uc010lxi.1_Splice_Site|IKBKB_uc011lcr.1_Splice_Site_p.T447_splice	p.T506_splice	NM_001556	NP_001547	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		14	1693	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)						B4DZ30|B4E0U4|O75327	Splice_Site	SNP	ENST00000520810.1	37	c.1516_splice	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	T	19.48	3.836504	0.71373	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	.	.	.	5.95	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0857	0.59140	0.0:0.0:0.1343:0.8657	.	.	.	.	.	-1	.	.	.	+	.	.	IKBKB	42296098	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.570000	0.82390	1.055000	0.40461	0.460000	0.39030	.		PASS	0.393	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1		Intron	4	168	4	168	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55541754	55541754	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr8:55541754C>T	ENST00000220676.1	+	4	5460	c.5312C>T	c.(5311-5313)tCa>tTa	p.S1771L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1771					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.S1771L(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GACACCACATCAGTGGACACC	0.438																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			2	Substitution - Missense(2)		lung(2)	skin(7)|ovary(4)|pancreas(1)	12						c.(5311-5313)TCA>TTA		retinitis pigmentosa RP1 protein							94.0	92.0	93.0					8																	55541754		2203	4299	6502	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541754C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5312C>T	8.37:g.55541754C>T	ENSP00000220676:p.Ser1771Leu					RP1_uc011ldy.1_Intron	p.S1771L	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5460	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1771						Missense_Mutation	SNP	ENST00000220676.1	37	c.5312C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796745	0.70567	.	.	ENSG00000104237	ENST00000220676	T	0.55930	0.49	5.93	5.93	0.95920	.	0.000000	0.42053	D	0.000769	T	0.74928	0.3781	M	0.74258	2.255	0.53688	D	0.999971	D	0.89917	1.0	D	0.91635	0.999	T	0.75855	-0.3170	10	0.87932	D	0	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	1771	P56715	RP1_HUMAN	L	1771	ENSP00000220676:S1771L	ENSP00000220676:S1771L	S	+	2	0	RP1	55704307	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	5.763000	0.68818	2.805000	0.96524	0.655000	0.94253	TCA		PASS	0.438	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		5	75	5	75	---	---	---	---
TRHR	7201	broad.mit.edu	37	8	110131549	110131549	+	Nonsense_Mutation	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr8:110131549C>G	ENST00000518632.1	+	3	1413	c.1062C>G	c.(1060-1062)taC>taG	p.Y354*	TRHR_ENST00000311762.2_Nonsense_Mutation_p.Y354*			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	354					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)	p.Y354*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCCTAAATTACAGCGTCATCA	0.463																																						uc003ymz.3																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|lung(1)	3						c.(1060-1062)TAC>TAG		thyrotropin-releasing hormone receptor							146.0	137.0	140.0					8																	110131549		2203	4299	6502	SO:0001587	stop_gained	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110131549C>G		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.1062C>G	8.37:g.110131549C>G	ENSP00000430711:p.Tyr354*						p.Y354*	NM_003301	NP_003292	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	1078	+			354			Cytoplasmic (Potential).		Q2M339	Nonsense_Mutation	SNP	ENST00000518632.1	37	c.1062C>G	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062875	0.76187	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	.	.	.	5.8	4.01	0.46588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.0271	9.2442	0.37515	0.0:0.7567:0.0:0.2433	.	.	.	.	X	354	.	ENSP00000309818:Y354X	Y	+	3	2	TRHR	110200725	1.000000	0.71417	0.998000	0.56505	0.805000	0.45488	1.800000	0.38833	0.803000	0.34113	-0.237000	0.12165	TAC		PASS	0.463	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			65	173	65	173	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113420573	113420573	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr8:113420573G>C	ENST00000297405.5	-	34	5823	c.5579C>G	c.(5578-5580)gCt>gGt	p.A1860G	CSMD3_ENST00000343508.3_Missense_Mutation_p.A1820G|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000455883.2_Missense_Mutation_p.A1756G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1860	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A1860G(1)|p.A1860D(1)|p.A1820G(1)|p.A1820D(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATCCCTTAGCTGTTATTGG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			4	Substitution - Missense(4)		lung(4)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(5578-5580)GCT>GGT		CUB and Sushi multiple domains 3 isoform 1							173.0	169.0	171.0					8																	113420573		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113420573G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5579C>G	8.37:g.113420573G>C	ENSP00000297405:p.Ala1860Gly	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Missense_Mutation_p.A1820G|CSMD3_uc011lhx.1_Missense_Mutation_p.A1756G	p.A1860G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			34	5738	-			1860			Extracellular (Potential).|CUB 10.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5579C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979644	0.74360	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883	T;T;T	0.18657	2.2;2.2;2.2	4.71	4.71	0.59529	CUB (5);	0.000000	0.64402	D	0.000001	T	0.32526	0.0832	L	0.45698	1.435	0.80722	D	1	D;P;P	0.54047	0.964;0.787;0.841	P;P;P	0.55345	0.714;0.547;0.774	T	0.01416	-1.1360	10	0.20046	T	0.44	.	18.2234	0.89909	0.0:0.0:1.0:0.0	.	1756;1860;1820	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	G	1820;1860;1756	ENSP00000345799:A1820G;ENSP00000297405:A1860G;ENSP00000412263:A1756G	ENSP00000297405:A1860G	A	-	2	0	CSMD3	113489749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.601000	0.87937	0.591000	0.81541	GCT		PASS	0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		70	224	70	224	---	---	---	---
COL14A1	7373	broad.mit.edu	37	8	121259908	121259908	+	Missense_Mutation	SNP	C	C	A	rs560701039		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr8:121259908C>A	ENST00000297848.3	+	21	2806	c.2536C>A	c.(2536-2538)Cgc>Agc	p.R846S	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.R751S|COL14A1_ENST00000309791.4_Missense_Mutation_p.R846S	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.R846S(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAACCGGTTGCGCATTACGTG	0.458																																						uc003yox.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(2536-2538)CGC>AGC		collagen, type XIV, alpha 1 precursor							105.0	92.0	97.0					8																	121259908		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121259908C>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2536C>A	8.37:g.121259908C>A	ENSP00000297848:p.Arg846Ser					COL14A1_uc003yoy.2_Missense_Mutation_p.R524S	p.R846S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		21	2801	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		846			Fibronectin type-III 7.			Missense_Mutation	SNP	ENST00000297848.3	37	c.2536C>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336555	0.60963	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.47	5.47	0.80525	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.051779	0.64402	D	0.000001	T	0.70518	0.3233	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.98;0.999	T	0.69347	-0.5169	10	0.40728	T	0.16	.	13.2286	0.59929	0.2773:0.7227:0.0:0.0	.	846;846	Q05707-2;Q05707	.;COEA1_HUMAN	S	846;846;751;659	ENSP00000311809:R846S;ENSP00000297848:R846S;ENSP00000247781:R751S;ENSP00000409461:R659S	ENSP00000247781:R751S	R	+	1	0	COL14A1	121329089	1.000000	0.71417	0.989000	0.46669	0.839000	0.47603	2.053000	0.41326	2.745000	0.94114	0.462000	0.41574	CGC		PASS	0.458	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		25	177	25	177	---	---	---	---
ZNF623	9831	broad.mit.edu	37	8	144732358	144732358	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr8:144732358C>G	ENST00000501748.2	+	1	405	c.316C>G	c.(316-318)Ctg>Gtg	p.L106V	ZNF623_ENST00000526926.1_Missense_Mutation_p.L66V|ZNF623_ENST00000458270.2_Missense_Mutation_p.L66V	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	106					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)	p.L106V(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAACCATATTCTGAATTCAGA	0.488																																						uc003yzd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(316-318)CTG>GTG		zinc finger protein 623 isoform 1							85.0	84.0	84.0					8																	144732358		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732358C>G	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.316C>G	8.37:g.144732358C>G	ENSP00000445979:p.Leu106Val					ZNF623_uc011lkp.1_Missense_Mutation_p.L66V|ZNF623_uc003yzc.2_Missense_Mutation_p.L66V	p.L106V	NM_014789	NP_055604	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	405	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		106					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.316C>G	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	C	1.348	-0.592330	0.03799	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.15372	2.43;2.43;2.43	4.35	2.55	0.30701	.	.	.	.	.	T	0.16557	0.0398	N	0.13352	0.335	0.09310	N	1	D	0.67145	0.996	P	0.57204	0.815	T	0.16335	-1.0406	9	0.27785	T	0.31	-7.2232	8.2587	0.31771	0.0:0.8033:0.0:0.1967	.	106	O75123	ZN623_HUMAN	V	66;66;66;106;106	ENSP00000435232:L66V;ENSP00000411139:L66V;ENSP00000445979:L106V	ENSP00000330358:L66V	L	+	1	2	ZNF623	144803501	0.000000	0.05858	0.006000	0.13384	0.191000	0.23601	-0.068000	0.11561	0.594000	0.29761	-0.136000	0.14681	CTG		PASS	0.488	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		10	194	10	194	---	---	---	---
MFSD3	113655	broad.mit.edu	37	8	145736871	145736871	+	IGR	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr8:145736871C>G	ENST00000301327.4	+	0	1548				RECQL4_ENST00000428558.2_Silent_p.L1190L|CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.L1190L(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CATGGAAGCTCAGGTGCAGGT	0.647																																						uc003zdj.2										N|F|S						osteosarcoma|skin basal and sqamous cell			1	Substitution - coding silent(1)		lung(1)	breast(2)|lung(1)|skin(1)	4						c.(3568-3570)CTG>CTC	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RecQ protein-like 4							51.0	59.0	56.0					8																	145736871		2016	4184	6200	SO:0001628	intergenic_variant	9401	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145736871C>G		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145736871C>G							p.L1190L	NM_004260	NP_004251	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		22	3602	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1190						Silent	SNP	ENST00000301327.4	37	c.3570G>C	CCDS6431.1																																																																																				PASS	0.647	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		3	124	3	124	---	---	---	---
DOCK8	81704	broad.mit.edu	37	9	340232	340232	+	Silent	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr9:340232G>C	ENST00000453981.1	+	14	1702	c.1590G>C	c.(1588-1590)gtG>gtC	p.V530V	DOCK8_ENST00000432829.2_Silent_p.V462V|DOCK8_ENST00000469391.1_Silent_p.V462V			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	530					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V462V(1)|p.V530V(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGCTGCCCGTGAAACCCTTTC	0.443																																						uc003zgf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(3)	6						c.(1588-1590)GTG>GTC		dedicator of cytokinesis 8							84.0	87.0	86.0					9																	340232		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:340232G>C	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.1590G>C	9.37:g.340232G>C						DOCK8_uc011lls.1_Silent_p.V530V|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Silent_p.V462V|DOCK8_uc003zgg.2_Silent_p.V462V|DOCK8_uc003zgh.2_RNA	p.V530V	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	14	1702	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	530			DHR-1.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.1590G>C	CCDS6440.2																																																																																				PASS	0.443	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		10	141	10	141	---	---	---	---
PSIP1	11168	broad.mit.edu	37	9	15466839	15466839	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr9:15466839C>A	ENST00000380733.4	-	15	1782	c.1439G>T	c.(1438-1440)gGa>gTa	p.G480V	PSIP1_ENST00000380738.4_Missense_Mutation_p.G480V			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	480					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)	p.G480V(1)		breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		ATCAGATCCTCCATTTAGAGT	0.408																																						uc003zlv.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1438-1440)GGA>GTA		PC4 and SFRS1 interacting protein 1 isoform 2							212.0	177.0	189.0					9																	15466839		2203	4300	6503	SO:0001583	missense	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15466839C>A	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1439G>T	9.37:g.15466839C>A	ENSP00000370109:p.Gly480Val					PSIP1_uc003zlw.3_Missense_Mutation_p.G480V	p.G480V	NM_033222	NP_150091	O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	15	1769	-			480					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	37	c.1439G>T	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345227	0.82022	.	.	ENSG00000164985	ENST00000380733;ENST00000380738	T;T	0.59906	0.23;0.23	5.53	5.53	0.82687	.	0.169188	0.51477	D	0.000097	T	0.68412	0.2998	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71580	-0.4550	10	0.87932	D	0	.	19.4473	0.94852	0.0:1.0:0.0:0.0	.	480	O75475	PSIP1_HUMAN	V	480	ENSP00000370109:G480V;ENSP00000370114:G480V	ENSP00000370109:G480V	G	-	2	0	PSIP1	15456839	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.086000	0.64474	2.598000	0.87819	0.491000	0.48974	GGA		PASS	0.408	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		4	125	4	125	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971036	21971036	+	Missense_Mutation	SNP	C	C	T	rs121913381		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr9:21971036C>T	ENST00000304494.5	-	2	592	c.322G>A	c.(322-324)Gat>Aat	p.D108N	CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108N|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.R122Q|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163Q|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57N|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57N|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122Q|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57N|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57N|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57N|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108N|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108N	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	108			D -> H (in a bladder tumor).|D -> Y (in a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCCAGGCATCGCGCACGTCC	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1401	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(36)|Deletion - Frameshift(5)	p.0?(1112)|p.D108Y(14)|p.?(13)|p.D108H(9)|p.D108N(5)|p.H83fs*2(2)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(160)|urinary_tract(97)|bone(74)|upper_aerodigestive_tract(62)|soft_tissue(57)|pleura(51)|oesophagus(51)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM071585|CM973278	CDKN2A	M	rs121913381	c.(322-324)GAT>AAT		cyclin-dependent kinase inhibitor 2A isoform 1							16.0	19.0	18.0					9																	21971036		2198	4292	6490	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971036C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.322G>A	9.37:g.21971036C>T	ENSP00000307101:p.Asp108Asn	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R163Q	p.D108N	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	534	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	108		D -> Y (in a head and neck tumor).|D -> H (in a bladder tumor).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.322G>A	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.535113|4.535113	0.85812|0.85812	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	D;D|T;T	0.93906|0.79653	-3.31;-3.31|-1.29;-1.22	5.93|5.93	5.93|5.93	0.95920|0.95920	Ankyrin repeat-containing domain (4);|.	.|0.000000	.|0.30428	.|N	.|0.009646	D|D	0.84474|0.84474	0.5480|0.5480	L|L	0.29908|0.29908	0.895|0.895	0.43360|0.43360	D|D	0.995431|0.995431	D|D	0.89917|0.89917	1.0|1.0	D|D	0.83275|0.66602	0.996|0.945	D|D	0.84949|0.84949	0.0870|0.0870	9|10	0.37606|0.56958	T|D	0.19|0.05	-14.8146|-14.8146	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	108|163	P42771|Q8N726	CD2A1_HUMAN|CD2A2_HUMAN	N|Q	108|163;122	ENSP00000307101:D108N;ENSP00000394932:D108N|ENSP00000355153:R163Q;ENSP00000432664:R122Q	ENSP00000307101:D108N|ENSP00000355153:R163Q	D|R	-|-	1|2	0|0	CDKN2A|CDKN2A	21961036|21961036	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.627000|0.627000	0.37826|0.37826	5.136000|5.136000	0.64783|0.64783	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAT|CGA		PASS	0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		10	19	10	19	---	---	---	---
CDC14B	8555	broad.mit.edu	37	9	99296825	99296825	+	Splice_Site	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr9:99296825C>T	ENST00000375241.1	-	8	1079		c.e8-1		CDC14B_ENST00000375236.1_Splice_Site|CDC14B_ENST00000463569.1_Splice_Site|CDC14B_ENST00000375242.3_Splice_Site|CDC14B_ENST00000375240.3_Splice_Site|CDC14B_ENST00000265659.2_Splice_Site	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B						activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.?(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TTTCTGCTTTCTGCAAGGGGA	0.398																																						uc004awj.2																			2	Unknown(2)		lung(2)	ovary(1)	1						c.e8-1		CDC14 homolog B isoform 2							90.0	83.0	85.0					9																	99296825		2203	4300	6503	SO:0001630	splice_region_variant	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99296825C>T	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.628-1G>A	9.37:g.99296825C>T						CDC14B_uc004awk.2_Splice_Site_p.K210_splice|CDC14B_uc004awl.2_Splice_Site|CDC14B_uc004awi.2_Splice_Site_p.K173_splice	p.K210_splice	NM_033331	NP_201588	O60729	CC14B_HUMAN			8	1080	-		Acute lymphoblastic leukemia(62;0.0559)						A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Splice_Site	SNP	ENST00000375241.1	37	c.628_splice	CCDS6722.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472098	0.84533	.	.	ENSG00000081377	ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236;ENST00000452280;ENST00000415608	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.692	0.91586	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDC14B	98336646	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.651000	0.83577	2.630000	0.89119	0.650000	0.86243	.		PASS	0.398	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331	Intron	12	61	12	61	---	---	---	---
DDX31	64794	broad.mit.edu	37	9	135470306	135470306	+	Nonsense_Mutation	SNP	T	T	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr9:135470306T>A	ENST00000372159.3	-	20	2654	c.2503A>T	c.(2503-2505)Aga>Tga	p.R835*	DDX31_ENST00000438527.3_Nonsense_Mutation_p.R706*|DDX31_ENST00000372153.1_Nonsense_Mutation_p.R762*	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	835						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R835*(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TGGGTTTTTCTCCATTTTAAT	0.542																																						uc004cbq.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(2503-2505)AGA>TGA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							119.0	133.0	128.0					9																	135470306		2203	4300	6503	SO:0001587	stop_gained	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135470306T>A	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.2503A>T	9.37:g.135470306T>A	ENSP00000361232:p.Arg835*					DDX31_uc010mzu.1_Nonsense_Mutation_p.R762*	p.R835*	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	20	2655	-			835					Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Nonsense_Mutation	SNP	ENST00000372159.3	37	c.2503A>T	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	T	37	6.083283	0.97267	.	.	ENSG00000125485	ENST00000372159;ENST00000372153;ENST00000438527	.	.	.	4.01	2.86	0.33363	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.088	0.19978	0.0:0.1183:0.0:0.8817	.	.	.	.	X	835;762;706	.	ENSP00000361226:R762X	R	-	1	2	DDX31	134460127	0.001000	0.12720	0.000000	0.03702	0.304000	0.27724	-0.192000	0.09587	0.597000	0.29811	0.379000	0.24179	AGA		PASS	0.542	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		8	289	8	289	---	---	---	---
TOR4A	54863	broad.mit.edu	37	9	140174066	140174066	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr9:140174066C>T	ENST00000357503.2	+	2	1121	c.925C>T	c.(925-927)Cgc>Tgc	p.R309C		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	309					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)	p.R309C(1)									CGAGGTCACGCGCTTCGTGCT	0.726																																						uc004cmn.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(925-927)CGC>TGC		hypothetical protein LOC54863							10.0	10.0	10.0					9																	140174066		2178	4263	6441	SO:0001583	missense	54863				chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity	g.chr9:140174066C>T	AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 167"""	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.925C>T	9.37:g.140174066C>T	ENSP00000350102:p.Arg309Cys					C9orf167_uc011mew.1_5'Flank	p.R309C	NM_017723	NP_060193	Q9NXH8	CI167_HUMAN	STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000728)	2	1042	+	all_cancers(76;0.0926)		309					A2BFA4	Missense_Mutation	SNP	ENST00000357503.2	37	c.925C>T	CCDS7041.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492283	0.64074	.	.	ENSG00000198113	ENST00000357503	T	0.49432	0.78	4.72	4.72	0.59763	ATPase, AAA+ type, core (1);	0.199444	0.38058	N	0.001837	T	0.46521	0.1397	L	0.50333	1.59	0.38385	D	0.945244	D	0.69078	0.997	P	0.47299	0.543	T	0.55270	-0.8167	10	0.66056	D	0.02	-17.2193	10.5179	0.44900	0.3061:0.6939:0.0:0.0	.	309	Q9NXH8	CI167_HUMAN	C	309	ENSP00000350102:R309C	ENSP00000350102:R309C	R	+	1	0	C9orf167	139293887	0.004000	0.15560	0.906000	0.35671	0.584000	0.36387	0.989000	0.29629	2.132000	0.65825	0.655000	0.94253	CGC		PASS	0.726	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254711.1	NM_017723		4	8	4	8	---	---	---	---
LARP4B	23185	broad.mit.edu	37	10	860896	860896	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr10:860896G>A	ENST00000316157.3	-	15	1850	c.1810C>T	c.(1810-1812)Cat>Tat	p.H604Y	LARP4B_ENST00000469487.1_5'UTR	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	604					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.H604Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCGGGTAAATGAGCTGGGGAG	0.532																																						uc001ifs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1810-1812)CAT>TAT		La ribonucleoprotein domain family, member 4B							76.0	75.0	75.0					10																	860896		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:860896G>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1810C>T	10.37:g.860896G>A	ENSP00000326128:p.His604Tyr						p.H604Y	NM_015155	NP_055970	Q92615	LAR4B_HUMAN			15	1851	-			604					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.1810C>T	CCDS31131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.773|7.773	0.707809|0.707809	0.15239|0.15239	.|.	.|.	ENSG00000107929|ENSG00000107929	ENST00000316157|ENST00000448368	T|.	0.29917|.	1.55|.	5.87|5.87	3.06|3.06	0.35304|0.35304	.|.	0.745524|.	0.14684|.	N|.	0.304545|.	T|T	0.22936|0.22936	0.0554|0.0554	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.30439|.	0.279|.	B|.	0.28232|.	0.087|.	T|T	0.22521|0.22521	-1.0214|-1.0214	10|5	0.48119|.	T|.	0.1|.	-10.0713|-10.0713	9.8015|9.8015	0.40766|0.40766	0.2153:0.0:0.7847:0.0|0.2153:0.0:0.7847:0.0	.|.	604|.	Q92615|.	LAR4B_HUMAN|.	Y|L	604|169	ENSP00000326128:H604Y|.	ENSP00000326128:H604Y|.	H|S	-|-	1|2	0|0	LARP4B|LARP4B	850896|850896	0.874000|0.874000	0.30092|0.30092	0.002000|0.002000	0.10522|0.10522	0.056000|0.056000	0.15407|0.15407	1.470000|1.470000	0.35354|0.35354	0.406000|0.406000	0.25560|0.25560	-0.351000|-0.351000	0.07748|0.07748	CAT|TCA		PASS	0.532	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		11	121	11	121	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15686210	15686210	+	Silent	SNP	G	G	T	rs377731246		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr10:15686210G>T	ENST00000378076.3	-	13	1571	c.1218C>A	c.(1216-1218)atC>atA	p.I406I		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	406					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.I406I(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AAGGCACTCCGATGGCAATGT	0.388																																						uc001ioc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(3)	6						c.(1216-1218)ATC>ATA		integrin, alpha 8 precursor							84.0	71.0	75.0					10																	15686210		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15686210G>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1218C>A	10.37:g.15686210G>T						ITGA8_uc010qcb.1_Silent_p.I391I	p.I406I	NM_003638	NP_003629	P53708	ITA8_HUMAN			13	1218	-			406			Extracellular (Potential).|FG-GAP 6.		B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.1218C>A	CCDS31155.1																																																																																				PASS	0.388	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		4	71	4	71	---	---	---	---
ZFAND4	93550	broad.mit.edu	37	10	46121646	46121646	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr10:46121646G>A	ENST00000344646.5	-	7	1840	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F	ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374366.3_Missense_Mutation_p.S468F|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	542							zinc ion binding (GO:0008270)	p.S542F(1)									CTCAACTTTGGAAATAACATC	0.398																																						uc001jcp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1624-1626)TCC>TTC		AN1, ubiquitin-like, homolog							82.0	86.0	84.0					10																	46121646		2203	4300	6503	SO:0001583	missense	93550						zinc ion binding	g.chr10:46121646G>A	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1625C>T	10.37:g.46121646G>A	ENSP00000339484:p.Ser542Phe					ANUBL1_uc001jcl.3_Missense_Mutation_p.S62F|ANUBL1_uc001jcm.3_Missense_Mutation_p.S542F|ANUBL1_uc009xmu.2_Missense_Mutation_p.S468F|ANUBL1_uc001jcn.3_Missense_Mutation_p.S468F|ANUBL1_uc001jco.3_Intron	p.S542F	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN			7	1867	-			542					A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	c.1625C>T	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343541	0.82022	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.33438	1.41;1.44	5.73	5.73	0.89815	.	3.958460	0.00721	N	0.000897	T	0.65291	0.2677	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.37911	-0.9685	10	0.87932	D	0	-5.6494	17.3955	0.87444	0.0:0.0:1.0:0.0	.	542	Q86XD8	ANUB1_HUMAN	F	542;468;424	ENSP00000339484:S542F;ENSP00000363486:S468F	ENSP00000339484:S542F	S	-	2	0	ANUBL1	45441652	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.065000	0.93941	2.707000	0.92482	0.561000	0.74099	TCC		PASS	0.398	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		32	197	32	197	---	---	---	---
RTKN2	219790	broad.mit.edu	37	10	63959610	63959610	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr10:63959610C>A	ENST00000373789.3	-	11	1293	c.1197G>T	c.(1195-1197)aaG>aaT	p.K399N	RTKN2_ENST00000315289.2_Missense_Mutation_p.K201N|RTKN2_ENST00000395265.1_Missense_Mutation_p.K420N	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	399					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.K399N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CACAACAGTGCTTCCATTGGC	0.333																																						uc001jlw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1195-1197)AAG>AAT		rhotekin 2							122.0	104.0	110.0					10																	63959610		2203	4300	6503	SO:0001583	missense	219790				signal transduction	intracellular		g.chr10:63959610C>A	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1197G>T	10.37:g.63959610C>A	ENSP00000362894:p.Lys399Asn					RTKN2_uc009xpf.1_Missense_Mutation_p.K201N|RTKN2_uc001jlv.2_Missense_Mutation_p.K53N	p.K399N	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN			11	1294	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		399					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	c.1197G>T	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249616	0.59212	.	.	ENSG00000182010	ENST00000315289;ENST00000395265;ENST00000373789	T;T;T	0.78707	-1.2;-1.2;-1.2	4.68	3.75	0.43078	.	0.102567	0.64402	D	0.000003	D	0.84624	0.5513	M	0.68317	2.08	0.35415	D	0.792761	D;D	0.89917	0.992;1.0	P;D	0.85130	0.858;0.997	D	0.88214	0.2892	10	0.72032	D	0.01	-19.9405	9.8494	0.41048	0.0:0.8048:0.0:0.1952	.	201;399	Q5SVY4;Q8IZC4	.;RTKN2_HUMAN	N	201;420;399	ENSP00000325379:K201N;ENSP00000378682:K420N;ENSP00000362894:K399N	ENSP00000325379:K201N	K	-	3	2	RTKN2	63629616	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.122000	0.31295	2.315000	0.78130	0.655000	0.94253	AAG		PASS	0.333	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		21	118	21	118	---	---	---	---
TECTB	6975	broad.mit.edu	37	10	114044304	114044304	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr10:114044304G>C	ENST00000369422.3	+	2	88	c.88G>C	c.(88-90)Gtg>Ctg	p.V30L		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	30	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.V30L(1)		kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TGTCATTCTTGTGTTTTGCTA	0.458																																						uc001kzr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(88-90)GTG>CTG		tectorin beta precursor							95.0	87.0	90.0					10																	114044304		2203	4300	6503	SO:0001583	missense	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114044304G>C	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.88G>C	10.37:g.114044304G>C	ENSP00000358430:p.Val30Leu						p.V30L	NM_058222	NP_478129	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	2	88	+		Colorectal(252;0.198)	30			ZP.		Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	c.88G>C	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.007162	0.93287	.	.	ENSG00000119913	ENST00000369422	T	0.80214	-1.35	5.52	5.52	0.82312	Zona pellucida sperm-binding protein (1);	0.000000	0.85682	D	0.000000	D	0.89543	0.6745	M	0.78049	2.395	0.80722	D	1	D	0.63046	0.992	D	0.79108	0.992	D	0.86073	0.1539	10	0.22706	T	0.39	.	19.8034	0.96518	0.0:0.0:1.0:0.0	.	30	Q96PL2	TECTB_HUMAN	L	30	ENSP00000358430:V30L	ENSP00000358430:V30L	V	+	1	0	TECTB	114034294	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.406000	0.97321	2.760000	0.94817	0.655000	0.94253	GTG		PASS	0.458	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		7	75	7	75	---	---	---	---
ZNF195	7748	broad.mit.edu	37	11	3381028	3381028	+	Missense_Mutation	SNP	C	C	G	rs375079282		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr11:3381028C>G	ENST00000399602.4	-	6	1336	c.1210G>C	c.(1210-1212)Gag>Cag	p.E404Q	ZNF195_ENST00000526601.1_Missense_Mutation_p.E385Q|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Missense_Mutation_p.E336Q|ZNF195_ENST00000354599.6_Missense_Mutation_p.E332Q|ZNF195_ENST00000343338.7_Missense_Mutation_p.E336Q|ZNF195_ENST00000005082.9_Missense_Mutation_p.E381Q	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	404				Missing (in Ref. 2; BAD18466). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E332Q(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CCTCCAATCTCATTTCTCTGG	0.408																																						uc001lxt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1210-1212)GAG>CAG		zinc finger protein 195 isoform 1							131.0	128.0	129.0					11																	3381028		2009	4193	6202	SO:0001583	missense	7748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3381028C>G		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1210G>C	11.37:g.3381028C>G	ENSP00000382511:p.Glu404Gln					uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Missense_Mutation_p.E381Q|ZNF195_uc001lxs.2_Missense_Mutation_p.E332Q|ZNF195_uc010qxr.1_Missense_Mutation_p.E385Q|ZNF195_uc009ydz.2_Missense_Mutation_p.E359Q|ZNF195_uc001lxu.2_Missense_Mutation_p.E336Q	p.E404Q	NM_001130520	NP_001123992	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	6	1388	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	404	Missing (in Ref. 2; BAD18466).				A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	c.1210G>C	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	c	16.82	3.228600	0.58777	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47	1.27	-2.53	0.06326	.	.	.	.	.	T	0.19886	0.0478	N	0.17723	0.515	0.23198	N	0.998132	P;P;D;P;D;P	0.61080	0.769;0.777;0.989;0.478;0.975;0.478	P;B;D;B;D;B	0.74023	0.888;0.1;0.969;0.041;0.982;0.041	T	0.16867	-1.0388	9	0.87932	D	0	.	4.732	0.12970	0.0:0.2371:0.5508:0.2121	.	385;263;381;336;404;332	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	Q	332;404;336;336;381;385	ENSP00000346613:E332Q;ENSP00000382511:E404Q;ENSP00000344483:E336Q;ENSP00000387998:E336Q;ENSP00000005082:E381Q;ENSP00000435828:E385Q	ENSP00000005082:E381Q	E	-	1	0	ZNF195	3337604	0.998000	0.40836	0.000000	0.03702	0.431000	0.31685	2.820000	0.48057	-0.971000	0.03564	0.305000	0.20034	GAG		PASS	0.408	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			14	325	14	325	---	---	---	---
OR51E2	81285	broad.mit.edu	37	11	4703778	4703778	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr11:4703778T>C	ENST00000396950.3	-	2	403	c.164A>G	c.(163-165)cAc>cGc	p.H55R		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	55					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)	p.H55R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CATCGGAGCGTGCAGGCTGCG	0.517																																						uc001lzk.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(163-165)CAC>CGC		olfactory receptor, family 51, subfamily E,							117.0	98.0	104.0					11																	4703778		2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703778T>C	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.164A>G	11.37:g.4703778T>C	ENSP00000380153:p.His55Arg						p.H55R	NM_030774	NP_110401	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	408	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	55			Helical; Name=2; (Potential).		B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.164A>G	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.843694	0.32606	.	.	ENSG00000167332	ENST00000396950;ENST00000532598	T;T	0.15952	2.38;2.38	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000193	T	0.27349	0.0671	M	0.82433	2.59	0.48632	D	0.999683	B	0.32653	0.379	B	0.34346	0.18	T	0.11227	-1.0596	10	0.72032	D	0.01	.	13.681	0.62484	0.0:0.0:0.0:1.0	.	55	Q9H255	O51E2_HUMAN	R	55	ENSP00000380153:H55R;ENSP00000432644:H55R	ENSP00000380153:H55R	H	-	2	0	OR51E2	4660354	1.000000	0.71417	0.895000	0.35142	0.197000	0.23852	7.631000	0.83237	2.112000	0.64535	0.533000	0.62120	CAC		PASS	0.517	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		30	98	30	98	---	---	---	---
OR51I1	390063	broad.mit.edu	37	11	5462646	5462646	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr11:5462646G>C	ENST00000380211.1	-	1	98	c.99C>G	c.(97-99)ttC>ttG	p.F33L	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	33					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F33L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGGATGCAGAAAATCAGGG	0.527																																						uc010qze.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(97-99)TTC>TTG		olfactory receptor, family 51, subfamily I,							112.0	109.0	110.0					11																	5462646		2201	4297	6498	SO:0001583	missense	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462646G>C	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.99C>G	11.37:g.5462646G>C	ENSP00000369559:p.Phe33Leu					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.F33L	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	99	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	33			Helical; Name=1; (Potential).		B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	c.99C>G	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.964118	0.34659	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.03982	3.74	5.9	4.96	0.65561	.	0.000000	0.56097	D	0.000025	T	0.04048	0.0113	N	0.20574	0.59	0.35648	D	0.811567	B	0.13145	0.007	B	0.10450	0.005	T	0.40079	-0.9582	10	0.17832	T	0.49	.	14.0849	0.64949	0.0:0.1507:0.8493:0.0	.	33	Q9H343	O51I1_HUMAN	L	18;30;33	ENSP00000369559:F33L	ENSP00000348350:F18L	F	-	3	2	OR51I1	5419222	0.904000	0.30761	1.000000	0.80357	0.979000	0.70002	1.499000	0.35671	1.497000	0.48584	0.644000	0.83932	TTC		PASS	0.527	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		13	132	13	132	---	---	---	---
AMPD3	272	broad.mit.edu	37	11	10517157	10517157	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr11:10517157C>T	ENST00000396554.3	+	9	1675	c.1334C>T	c.(1333-1335)tCa>tTa	p.S445L	AMPD3_ENST00000444303.2_Missense_Mutation_p.S277L	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	436					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.S445L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TACCAGTACTCAGAGCCACGG	0.602																																						uc001mio.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1306-1308)TCA>TTA		adenosine monophosphate deaminase 3 isoform 1B							71.0	59.0	63.0					11																	10517157		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10517157C>T	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1334C>T	11.37:g.10517157C>T	ENSP00000379802:p.Ser445Leu					AMPD3_uc010rbz.1_Missense_Mutation_p.S277L|AMPD3_uc001min.1_Missense_Mutation_p.S445L|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.S443L|AMPD3_uc009yfy.2_Missense_Mutation_p.S436L	p.S436L	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	9	1642	+			436					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.1307C>T	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289454	0.80914	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39	5.15	5.15	0.70609	Adenosine/AMP deaminase (1);	0.109398	0.64402	D	0.000007	T	0.68485	0.3006	N	0.11364	0.135	0.54753	D	0.999982	B;B;B	0.17268	0.008;0.021;0.008	B;B;B	0.17722	0.016;0.019;0.016	T	0.65434	-0.6169	10	0.56958	D	0.05	-7.0125	18.2391	0.89960	0.0:1.0:0.0:0.0	.	443;436;445	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	L	277;445;436;443;436	ENSP00000396000:S277L;ENSP00000379802:S445L;ENSP00000379801:S436L;ENSP00000436987:S443L;ENSP00000431648:S436L	ENSP00000379801:S436L	S	+	2	0	AMPD3	10473733	0.998000	0.40836	0.997000	0.53966	0.986000	0.74619	4.084000	0.57650	2.397000	0.81536	0.491000	0.48974	TCA		PASS	0.602	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		11	60	11	60	---	---	---	---
ELP4	26610	broad.mit.edu	37	11	31648666	31648666	+	Silent	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr11:31648666C>A	ENST00000350638.5	+	6	698	c.663C>A	c.(661-663)acC>acA	p.T221T	ELP4_ENST00000395934.2_Silent_p.T221T|ELP4_ENST00000379163.5_Silent_p.T222T	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	221					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)	p.T221T(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GTTCTTTGACCCCTGGCTACA	0.318																																						uc001mtb.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3						c.(661-663)ACC>ACA		elongation protein 4 homolog							114.0	103.0	106.0					11																	31648666		1823	4089	5912	SO:0001819	synonymous_variant	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31648666C>A	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.663C>A	11.37:g.31648666C>A						ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Silent_p.T221T|ELP4_uc010rdz.1_Silent_p.T222T	p.T221T	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN			6	698	+	Lung SC(675;0.225)		221					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Silent	SNP	ENST00000350638.5	37	c.663C>A	CCDS7875.2																																																																																				PASS	0.318	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		17	116	17	116	---	---	---	---
DEPDC7	91614	broad.mit.edu	37	11	33053045	33053045	+	Silent	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr11:33053045C>T	ENST00000241051.3	+	5	996	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	DEPDC7_ENST00000311388.3_Silent_p.L293L	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	302					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)		p.L302L(1)|p.L293L(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						GAAAGAACTTCTGTTTGATGC	0.398																																						uc001mub.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(904-906)CTG>TTG		novel 58.3 KDA protein isoform 1							117.0	111.0	113.0					11																	33053045		1867	4101	5968	SO:0001819	synonymous_variant	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33053045C>T		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.904C>T	11.37:g.33053045C>T						DEPDC7_uc001muc.2_Silent_p.L293L	p.L302L	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN			5	996	+			302					G5E941|Q8N602|Q8NCU9|Q9UGK5	Silent	SNP	ENST00000241051.3	37	c.904C>T	CCDS41632.1																																																																																				PASS	0.398	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		19	114	19	114	---	---	---	---
ZFP91	80829	broad.mit.edu	37	11	58385039	58385039	+	Silent	SNP	C	C	A	rs561947960		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr11:58385039C>A	ENST00000316059.6	+	11	1744	c.1573C>A	c.(1573-1575)Cgg>Agg	p.R525R	ZFP91-CNTF_ENST00000389919.4_Silent_p.R525R	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	525					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)	p.R525R(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGGGACGGAACGGGTGAGCCT	0.527																																						uc001nmx.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1573-1575)CGG>AGG		zinc finger protein 91							103.0	94.0	97.0					11																	58385039		2201	4295	6496	SO:0001819	synonymous_variant	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58385039C>A	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1573C>A	11.37:g.58385039C>A						ZFP91_uc001nmy.3_Silent_p.R524R|ZFP91-CNTF_uc010rkm.1_RNA	p.R525R	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN			11	1741	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	525					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Silent	SNP	ENST00000316059.6	37	c.1573C>A	CCDS31553.1																																																																																				PASS	0.527	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		3	100	3	100	---	---	---	---
ORAOV1	220064	broad.mit.edu	37	11	69482722	69482722	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr11:69482722C>T	ENST00000535657.1	-	4	367	c.286G>A	c.(286-288)Gac>Aac	p.D96N	ORAOV1_ENST00000539414.1_Missense_Mutation_p.D96N|ORAOV1_ENST00000536870.1_Missense_Mutation_p.D37N|ORAOV1_ENST00000279147.4_Missense_Mutation_p.D96N			Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	96								p.D96N(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			TAAGTAGGGTCATCATAAGGG	0.413																																						uc001opc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(286-288)GAC>AAC		oral cancer overexpressed 1							175.0	162.0	167.0					11																	69482722		2200	4294	6494	SO:0001583	missense	220064							g.chr11:69482722C>T		CCDS8192.1	11q13.2	2010-11-23			ENSG00000149716	ENSG00000149716			17589	protein-coding gene	gene with protein product	"""oral cancer overexpressed protein 1-A"""	607224				12172009	Standard	NM_153451		Approved	TAOS1	uc001opc.3	Q8WV07		ENST00000535657.1:c.286G>A	11.37:g.69482722C>T	ENSP00000446129:p.Asp96Asn					ORAOV1_uc010rqi.1_Missense_Mutation_p.D96N|ORAOV1_uc009ysm.2_RNA|ORAOV1_uc001opd.2_Missense_Mutation_p.D37N	p.D96N	NM_153451	NP_703152	Q8WV07	ORAV1_HUMAN	Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		4	444	-	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		96					B2R4R2|Q8NFK0	Missense_Mutation	SNP	ENST00000535657.1	37	c.286G>A	CCDS8192.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535490	0.85812	.	.	ENSG00000149716	ENST00000538554;ENST00000376587;ENST00000279147;ENST00000536870;ENST00000535657;ENST00000539414	T;T;T;T;T	0.61274	1.07;1.21;0.12;1.21;1.22	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	L	0.40543	1.245	0.80722	D	1	P;D;B	0.71674	0.671;0.998;0.221	B;D;B	0.81914	0.28;0.995;0.065	T	0.58008	-0.7712	10	0.07813	T	0.8	-29.5514	15.6626	0.77199	0.0:1.0:0.0:0.0	.	96;37;96	B4DFA5;F5GWS9;Q8WV07	.;.;ORAV1_HUMAN	N	96;96;96;37;96;96	ENSP00000446428:D96N;ENSP00000279147:D96N;ENSP00000441984:D37N;ENSP00000446129:D96N;ENSP00000444112:D96N	ENSP00000279147:D96N	D	-	1	0	ORAOV1	69191903	1.000000	0.71417	0.617000	0.29091	0.872000	0.50106	5.631000	0.67812	2.112000	0.64535	0.549000	0.68633	GAC		PASS	0.413	ORAOV1-009	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000396821.1	NM_153451		20	100	20	100	---	---	---	---
TENM4	26011	broad.mit.edu	37	11	78369355	78369355	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr11:78369355C>G	ENST00000278550.7	-	34	8520	c.8058G>C	c.(8056-8058)gaG>gaC	p.E2686D		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2686					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.E2686D(2)									CCCGTGCCTTCTCCTCATCCA	0.632																																						uc001ozl.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)	4						c.(8056-8058)GAG>GAC		odz, odd Oz/ten-m homolog 4							49.0	53.0	52.0					11																	78369355		2082	4206	6288	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78369355C>G	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.8058G>C	11.37:g.78369355C>G	ENSP00000278550:p.Glu2686Asp					ODZ4_uc001ozk.3_Missense_Mutation_p.E911D|ODZ4_uc009yvb.1_Intron	p.E2686D	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			34	8521	-			2686			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.8058G>C	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789356	0.70337	.	.	ENSG00000149256	ENST00000278550	D	0.92446	-3.04	5.54	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.94785	0.8316	M	0.75085	2.285	0.50171	D	0.99985	D	0.64830	0.994	D	0.70716	0.97	D	0.94194	0.7444	9	.	.	.	.	9.9026	0.41357	0.0:0.8452:0.0:0.1548	.	2686	Q6N022	TEN4_HUMAN	D	2686	ENSP00000278550:E2686D	.	E	-	3	2	ODZ4	78047003	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.398000	0.44486	1.549000	0.49425	0.655000	0.94253	GAG		PASS	0.632	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			6	21	6	21	---	---	---	---
TMEM135	65084	broad.mit.edu	37	11	87025542	87025542	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr11:87025542T>C	ENST00000305494.5	+	12	1069	c.1030T>C	c.(1030-1032)Tat>Cat	p.Y344H	TMEM135_ENST00000340353.7_Missense_Mutation_p.Y322H|TMEM135_ENST00000532959.1_Missense_Mutation_p.Y215H|TMEM135_ENST00000535167.1_Missense_Mutation_p.Y205H	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	344					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)		p.Y344H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AATGATGTTTTATAAAAGCAC	0.303																																						uc001pch.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1030-1032)TAT>CAT		transmembrane protein 135							114.0	114.0	114.0					11																	87025542		2199	4299	6498	SO:0001583	missense	65084					integral to membrane		g.chr11:87025542T>C	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.1030T>C	11.37:g.87025542T>C	ENSP00000306344:p.Tyr344His					TMEM135_uc010rtt.1_Missense_Mutation_p.Y205H|TMEM135_uc001pci.2_Missense_Mutation_p.Y322H	p.Y344H	NM_022918	NP_075069	Q86UB9	TM135_HUMAN			12	1053	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	344			Helical; (Potential).		Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	ENST00000305494.5	37	c.1030T>C	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.381885	0.82792	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	T;T;T;T	0.51574	0.7;0.73;0.74;0.72	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.70011	0.3175	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.979	T	0.74106	-0.3772	9	.	.	.	-30.5329	14.1109	0.65121	0.0:0.0:0.0:1.0	.	322;344	Q86UB9-2;Q86UB9	.;TM135_HUMAN	H	322;181;215;344;205	ENSP00000345513:Y322H;ENSP00000436179:Y215H;ENSP00000306344:Y344H;ENSP00000439525:Y205H	.	Y	+	1	0	TMEM135	86703190	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.314000	0.78988	1.941000	0.56285	0.383000	0.25322	TAT		PASS	0.303	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918		17	80	17	80	---	---	---	---
BUD13	84811	broad.mit.edu	37	11	116633646	116633646	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr11:116633646T>C	ENST00000260210.4	-	4	682	c.659A>G	c.(658-660)cAt>cGt	p.H220R	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	220	Arg-rich.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)	p.H220R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TGGTGAATCATGACGGACTCT	0.547																																						uc001ppn.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(658-660)CAT>CGT		BUD13 homolog isoform 1							127.0	127.0	127.0					11																	116633646		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116633646T>C	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.659A>G	11.37:g.116633646T>C	ENSP00000260210:p.His220Arg					BUD13_uc001ppo.2_Intron|BUD13_uc009yzc.2_Missense_Mutation_p.H220R	p.H220R	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	4	693	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	220			Arg-rich.		A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.659A>G	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	T	4.271	0.049485	0.08243	.	.	ENSG00000137656	ENST00000260210	T	0.19669	2.13	5.08	1.4	0.22301	.	0.516611	0.22504	N	0.059184	T	0.21761	0.0524	M	0.78801	2.425	0.43141	D	0.994897	B;B	0.19331	0.035;0.007	B;B	0.18263	0.021;0.006	T	0.03662	-1.1015	9	.	.	.	-1.3385	6.5361	0.22355	0.0:0.1386:0.1307:0.7307	.	220;220	A8K4Z6;Q9BRD0	.;BUD13_HUMAN	R	220	ENSP00000260210:H220R	.	H	-	2	0	BUD13	116138856	1.000000	0.71417	0.035000	0.18076	0.037000	0.13140	1.784000	0.38674	0.067000	0.16545	-1.062000	0.02293	CAT		PASS	0.547	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		55	171	55	171	---	---	---	---
CEP164	22897	broad.mit.edu	37	11	117244507	117244507	+	Nonsense_Mutation	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr11:117244507C>G	ENST00000278935.3	+	10	1340	c.1193C>G	c.(1192-1194)tCa>tGa	p.S398*	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	398					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.S398*(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CCACAGCTCTCAGACTCCATA	0.507																																						uc001prc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1192-1194)TCA>TGA		centrosomal protein 164kDa							178.0	150.0	159.0					11																	117244507		2201	4296	6497	SO:0001587	stop_gained	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117244507C>G	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1193C>G	11.37:g.117244507C>G	ENSP00000278935:p.Ser398*					CEP164_uc001prb.2_Nonsense_Mutation_p.S398*|CEP164_uc010rxk.1_Nonsense_Mutation_p.S372*|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA	p.S398*	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	10	1340	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	398					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Nonsense_Mutation	SNP	ENST00000278935.3	37	c.1193C>G	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	C	36	5.755001	0.96898	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	.	.	.	5.18	4.27	0.50696	.	0.360344	0.20442	N	0.092261	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-3.8628	9.3051	0.37870	0.0:0.9041:0.0:0.0959	.	.	.	.	X	398;372;325	.	ENSP00000278935:S398X	S	+	2	0	CEP164	116749717	0.324000	0.24652	0.314000	0.25224	0.266000	0.26442	1.266000	0.33039	1.407000	0.46875	0.655000	0.94253	TCA		PASS	0.507	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		10	123	10	123	---	---	---	---
CEP164	22897	broad.mit.edu	37	11	117244538	117244538	+	Silent	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr11:117244538C>T	ENST00000278935.3	+	10	1371	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	408					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.F408F(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CCAAGTCCTTCCATGGCCTGG	0.498																																						uc001prc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1222-1224)TTC>TTT		centrosomal protein 164kDa							139.0	113.0	122.0					11																	117244538		2201	4296	6497	SO:0001819	synonymous_variant	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117244538C>T	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1224C>T	11.37:g.117244538C>T						CEP164_uc001prb.2_Silent_p.F408F|CEP164_uc010rxk.1_Silent_p.F382F|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA	p.F408F	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	10	1371	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	408					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	c.1224C>T	CCDS31683.1																																																																																				PASS	0.498	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		7	87	7	87	---	---	---	---
PVRL1	5818	broad.mit.edu	37	11	119545974	119545974	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr11:119545974G>A	ENST00000264025.3	-	5	1428	c.898C>T	c.(898-900)Ctc>Ttc	p.L300F	PVRL1_ENST00000524510.1_5'Flank|PVRL1_ENST00000340882.2_Missense_Mutation_p.L300F|PVRL1_ENST00000341398.2_Missense_Mutation_p.L300F	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	300	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.L300F(3)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TTGAAGAAGAGGGTTCTGTTC	0.567																																						uc001pwv.2																			3	Substitution - Missense(3)		lung(3)		0						c.(898-900)CTC>TTC		poliovirus receptor-related 1 isoform 1							149.0	126.0	134.0					11																	119545974		2199	4295	6494	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119545974G>A	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.898C>T	11.37:g.119545974G>A	ENSP00000264025:p.Leu300Phe					PVRL1_uc001pwu.1_Missense_Mutation_p.L300F|PVRL1_uc001pww.2_Missense_Mutation_p.L300F	p.L300F	NM_002855	NP_002846	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	5	1070	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	300			Extracellular (Potential).|Ig-like C2-type 2.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.898C>T	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077104	0.76415	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	T;T;T	0.15487	2.42;2.42;2.42	5.46	5.46	0.80206	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.061435	0.64402	D	0.000003	T	0.43986	0.1272	M	0.87381	2.88	0.51233	D	0.999916	D;D;D	0.69078	0.992;0.994;0.997	P;P;P	0.61533	0.864;0.889;0.89	T	0.49862	-0.8894	10	0.87932	D	0	.	13.8737	0.63638	0.0:0.0:0.8377:0.1623	.	300;300;300	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	F	300	ENSP00000344974:L300F;ENSP00000264025:L300F;ENSP00000345289:L300F	ENSP00000264025:L300F	L	-	1	0	PVRL1	119051184	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.862000	0.56009	2.559000	0.86315	0.655000	0.94253	CTC		PASS	0.567	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			15	86	15	86	---	---	---	---
OR8A1	390275	broad.mit.edu	37	11	124440462	124440462	+	Silent	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr11:124440462C>T	ENST00000284287.3	+	1	570	c.498C>T	c.(496-498)taC>taT	p.Y166Y		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	166					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y166Y(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CTGTGGTCTACGCCATCGGAC	0.507																																						uc010san.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(496-498)TAC>TAT		olfactory receptor, family 8, subfamily A,							140.0	120.0	127.0					11																	124440462		2201	4299	6500	SO:0001819	synonymous_variant	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440462C>T	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.498C>T	11.37:g.124440462C>T							p.Y166Y	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	498	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	166			Helical; Name=4; (Potential).		Q6IEW7|Q96RC6	Silent	SNP	ENST00000284287.3	37	c.498C>T	CCDS31712.1																																																																																				PASS	0.507	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		15	64	15	64	---	---	---	---
C3AR1	719	broad.mit.edu	37	12	8211896	8211896	+	Silent	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr12:8211896G>A	ENST00000307637.4	-	2	1089	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	296					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.L296L(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CTAGGGAACAGCTTTAAATGA	0.433																																						uc001qtv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(886-888)CTG>TTG		complement component 3a receptor 1							102.0	105.0	104.0					12																	8211896		2203	4300	6503	SO:0001819	synonymous_variant	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8211896G>A	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.886C>T	12.37:g.8211896G>A							p.L296L	NM_004054	NP_004045	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	978	-			296			Extracellular (Potential).		O43771|Q92868	Silent	SNP	ENST00000307637.4	37	c.886C>T	CCDS8588.1																																																																																				PASS	0.433	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			4	128	4	128	---	---	---	---
A2M	2	broad.mit.edu	37	12	9221440	9221440	+	Splice_Site	SNP	T	T	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr12:9221440T>C	ENST00000318602.7	-	34	4571		c.e34-2		A2M-AS1_ENST00000499762.1_RNA	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.?(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	ATTTGACACCTGGAAAGCAAA	0.383																																						uc001qvk.1																			1	Unknown(1)		lung(1)	central_nervous_system(4)|skin(1)	5						c.e34-1		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						63.0	59.0	60.0					12																	9221440		1876	4097	5973	SO:0001630	splice_region_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9221440T>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.4264-2A>G	12.37:g.9221440T>C						A2M_uc001qvj.1_Splice_Site_p.V464_splice|A2M_uc009zgk.1_Splice_Site_p.V1272_splice	p.V1422_splice	NM_000014	NP_000005	P01023	A2MG_HUMAN			34	4377	-								Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Splice_Site	SNP	ENST00000318602.7	37	c.4264_splice	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.213617	0.58452	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3801	0.60762	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	A2M	9112707	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	4.042000	0.57347	2.043000	0.60533	0.533000	0.62120	.		PASS	0.383	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	Intron	10	17	10	17	---	---	---	---
CLEC12B	387837	broad.mit.edu	37	12	10167165	10167165	+	Silent	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr12:10167165G>A	ENST00000338896.5	+	3	362	c.234G>A	c.(232-234)ttG>ttA	p.L78L	CLEC12B_ENST00000396502.1_Silent_p.L78L|CLEC1B_ENST00000428126.2_5'Flank|RP11-133L14.5_ENST00000544225.1_RNA	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.L78L(1)		central_nervous_system(2)|large_intestine(2)|lung(5)	9						CAGAGAAATTGAGTCAACTTC	0.388																																						uc001qwz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(232-234)TTG>TTA		C-type lectin domain family 12, member B isoform							84.0	79.0	81.0					12																	10167165		2203	4300	6503	SO:0001819	synonymous_variant	387837					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10167165G>A	AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"""C-type lectin domain containing"""	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.234G>A	12.37:g.10167165G>A						CLEC12B_uc001qwx.1_Silent_p.L78L|CLEC12B_uc001qwy.1_5'UTR|CLEC12B_uc009zhe.2_RNA	p.L78L	NM_001129998	NP_001123470	Q2HXU8	CL12B_HUMAN			3	362	+			78			Extracellular (Potential).		Q6UWF2|Q6ZRG0	Silent	SNP	ENST00000338896.5	37	c.234G>A	CCDS44830.1																																																																																				PASS	0.388	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852		5	80	5	80	---	---	---	---
PRB3	5544	broad.mit.edu	37	12	11420897	11420897	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr12:11420897G>A	ENST00000279573.7	-	3	421	c.286C>T	c.(286-288)Ccg>Tcg	p.P96S	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Missense_Mutation_p.P96S|PRB3_ENST00000538488.1_Missense_Mutation_p.P96S			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	96	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)		p.P96S(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGCTTTCCCGGACGAGGTGGG	0.617																																						uc001qzs.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(286-288)CCG>TCG		proline-rich protein BstNI subfamily 3							150.0	186.0	174.0					12																	11420897		2065	4213	6278	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420897G>A			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.286C>T	12.37:g.11420897G>A	ENSP00000279573:p.Pro96Ser					PRB4_uc001qzf.1_Intron	p.P96S	NM_006249	NP_006240	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		3	324	-			96			10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.|3.		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37	c.286C>T		.	.	.	.	.	.	.	.	.	.	.	6.439	0.449087	0.12223	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.05925	3.37;3.59	0.704	0.704	0.18121	.	3.883510	0.01910	U	0.039758	T	0.07818	0.0196	.	.	.	0.09310	N	1	D	0.58620	0.983	P	0.51170	0.661	T	0.39961	-0.9588	9	0.10902	T	0.67	.	7.3568	0.26723	0.0:0.0:1.0:0.0	.	96	Q04118	PRB3_HUMAN	S	96	ENSP00000371264:P96S;ENSP00000442626:P96S	ENSP00000279573:P96S	P	-	1	0	PRB3	11312164	0.001000	0.12720	0.018000	0.16275	0.056000	0.15407	0.621000	0.24418	0.699000	0.31761	0.134000	0.15878	CCG		PASS	0.617	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		47	706	47	706	---	---	---	---
MAP3K12	7786	broad.mit.edu	37	12	53877249	53877249	+	Silent	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr12:53877249C>G	ENST00000267079.2	-	11	1623	c.1398G>C	c.(1396-1398)cgG>cgC	p.R466R	MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547488.1_Silent_p.R499R|MAP3K12_ENST00000547035.1_Silent_p.R499R	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	466					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.R466R(1)|p.R499R(1)		NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CTGGGCACCTCCGCTCTAAAG	0.567																																						uc001sdm.1																			2	Substitution - coding silent(2)		lung(2)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1396-1398)CGG>CGC		mitogen-activated protein kinase kinase kinase							89.0	90.0	90.0					12																	53877249		2203	4300	6503	SO:0001819	synonymous_variant	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53877249C>G	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1398G>C	12.37:g.53877249C>G						MAP3K12_uc001sdn.1_Silent_p.R499R	p.R466R	NM_006301	NP_006292	Q12852	M3K12_HUMAN			11	1496	-			466					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Silent	SNP	ENST00000267079.2	37	c.1398G>C	CCDS8860.1																																																																																				PASS	0.567	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		10	119	10	119	---	---	---	---
MAP3K12	7786	broad.mit.edu	37	12	53877268	53877268	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr12:53877268C>T	ENST00000267079.2	-	11	1604	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q	MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R493Q|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R493Q	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	460	Leucine-zipper 2.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.R493Q(1)|p.R460Q(1)		NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AGCTTGCTCTCGCCTAAAGAT	0.582																																						uc001sdm.1																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1378-1380)CGA>CAA		mitogen-activated protein kinase kinase kinase							83.0	84.0	84.0					12																	53877268		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53877268C>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1379G>A	12.37:g.53877268C>T	ENSP00000267079:p.Arg460Gln					MAP3K12_uc001sdn.1_Missense_Mutation_p.R493Q	p.R460Q	NM_006301	NP_006292	Q12852	M3K12_HUMAN			11	1477	-			460			Leucine-zipper 2.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.1379G>A	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	36	5.626611	0.96671	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.26067	1.76;1.76;1.76	5.42	5.42	0.78866	.	0.000000	0.44097	D	0.000494	T	0.51719	0.1691	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.99	T	0.51236	-0.8731	10	0.72032	D	0.01	.	18.3799	0.90446	0.0:1.0:0.0:0.0	.	493;460	G3V1Y2;Q12852	.;M3K12_HUMAN	Q	460;493;493	ENSP00000267079:R460Q;ENSP00000449038:R493Q;ENSP00000448689:R493Q	ENSP00000267079:R460Q	R	-	2	0	MAP3K12	52163535	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.360000	0.79487	2.720000	0.93068	0.655000	0.94253	CGA		PASS	0.582	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		6	122	6	122	---	---	---	---
RDH16	8608	broad.mit.edu	37	12	57348692	57348692	+	Silent	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr12:57348692G>C	ENST00000398138.3	-	2	1426	c.570C>G	c.(568-570)ctC>ctG	p.L190L	RDH16_ENST00000360752.4_Intron	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	190					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)	p.L190L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						ACCCATACCTGAGGGAGTCAG	0.567																																					GBM(179;741 2921 43105 45298)	uc001smi.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(568-570)CTC>CTG		retinol dehydrogenase 16							49.0	56.0	54.0					12																	57348692		2033	4210	6243	SO:0001819	synonymous_variant	8608				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	g.chr12:57348692G>C		CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.570C>G	12.37:g.57348692G>C						RDH16_uc009zpa.2_Intron	p.L190L	NM_003708	NP_003699	O75452	RDH16_HUMAN			2	742	-			190			Cytoplasmic (Potential).		Q9UNV2	Silent	SNP	ENST00000398138.3	37	c.570C>G	CCDS41797.1																																																																																				PASS	0.567	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708		3	58	3	58	---	---	---	---
LTA4H	4048	broad.mit.edu	37	12	96415995	96415995	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr12:96415995C>A	ENST00000228740.2	-	5	656	c.515G>T	c.(514-516)aGt>aTt	p.S172I	LTA4H_ENST00000413268.2_Missense_Mutation_p.S148I|LTA4H_ENST00000552789.1_Missense_Mutation_p.S148I	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	172					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S172I(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	ACGAATAGCACTCATAAGTGC	0.363																																						uc001ten.1																			1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(514-516)AGT>ATT		leukotriene A4 hydrolase							108.0	100.0	102.0					12																	96415995		2203	4300	6503	SO:0001583	missense	4048				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr12:96415995C>A	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.515G>T	12.37:g.96415995C>A	ENSP00000228740:p.Ser172Ile					LTA4H_uc010suy.1_Missense_Mutation_p.S134I|LTA4H_uc010suz.1_Missense_Mutation_p.S134I|LTA4H_uc010sva.1_RNA	p.S172I	NM_000895	NP_000886	P09960	LKHA4_HUMAN			5	583	-			172					B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	c.515G>T	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	C	31	5.098067	0.94197	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.05382	3.45;3.45;3.45	5.97	5.97	0.96955	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	H	0.95224	3.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.54655	-0.8261	10	0.87932	D	0	-21.5161	20.4135	0.99023	0.0:1.0:0.0:0.0	.	148;148;172	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	I	172;148;148	ENSP00000228740:S172I;ENSP00000449958:S148I;ENSP00000395051:S148I	ENSP00000228740:S172I	S	-	2	0	LTA4H	94940126	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.211000	0.77933	2.835000	0.97688	0.591000	0.81541	AGT		PASS	0.363	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		3	97	3	97	---	---	---	---
KNTC1	9735	broad.mit.edu	37	12	123042029	123042029	+	Silent	SNP	C	C	T	rs201683456		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr12:123042029C>T	ENST00000333479.7	+	17	1548	c.1371C>T	c.(1369-1371)gaC>gaT	p.D457D	KNTC1_ENST00000450485.2_Silent_p.D420D	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	457					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.D457D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTGTAGACGACGCTAAGGAAA	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		20951	0.0		0.001	False		,,,				2504	0.0					uc001ucv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(1369-1371)GAC>GAT		Rough Deal homolog, centromere/kinetochore							128.0	117.0	120.0					12																	123042029		1893	4123	6016	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123042029C>T		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1371C>T	12.37:g.123042029C>T						KNTC1_uc010taf.1_Silent_p.D420D	p.D457D	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	17	1534	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		457					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.1371C>T	CCDS45002.1																																																																																				PASS	0.393	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			6	69	6	69	---	---	---	---
TNFRSF19	55504	broad.mit.edu	37	13	24190102	24190102	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr13:24190102C>G	ENST00000382258.4	+	4	481	c.277C>G	c.(277-279)Ctg>Gtg	p.L93V	TNFRSF19_ENST00000403372.2_5'UTR|TNFRSF19_ENST00000382263.3_Missense_Mutation_p.L93V|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.L93V	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	93					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)	p.L93V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CAAGCCCTGTCTGGACTGCGC	0.572																																						uc001uov.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)|skin(1)	2						c.(277-279)CTG>GTG		tumor necrosis factor receptor superfamily,							109.0	100.0	103.0					13																	24190102		2203	4300	6503	SO:0001583	missense	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24190102C>G	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.277C>G	13.37:g.24190102C>G	ENSP00000371693:p.Leu93Val					TNFRSF19_uc001uot.2_Missense_Mutation_p.L93V|TNFRSF19_uc010tcu.1_5'UTR|TNFRSF19_uc001uow.2_Missense_Mutation_p.L93V	p.L93V	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	4	341	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	93			TNFR-Cys 2.|Extracellular (Potential).		A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	37	c.277C>G	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912003	0.33721	.	.	ENSG00000127863	ENST00000248484;ENST00000382258;ENST00000382263	T;T;T	0.24350	1.86;1.86;1.86	5.46	3.7	0.42460	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.202809	0.44097	N	0.000485	T	0.26268	0.0641	L	0.58969	1.84	0.80722	D	1	B;B	0.25272	0.122;0.122	B;B	0.29942	0.109;0.066	T	0.03259	-1.1055	10	0.33141	T	0.24	-7.882	10.2094	0.43132	0.0:0.662:0.2675:0.0705	.	93;93	Q9NS68;Q9NS68-2	TNR19_HUMAN;.	V	93	ENSP00000248484:L93V;ENSP00000371693:L93V;ENSP00000371698:L93V	ENSP00000248484:L93V	L	+	1	2	TNFRSF19	23088102	0.997000	0.39634	0.814000	0.32528	0.737000	0.42083	3.144000	0.50616	0.661000	0.30985	-0.225000	0.12378	CTG		PASS	0.572	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		9	123	9	123	---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60667807	60667807	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr13:60667807G>C	ENST00000400324.4	-	4	670	c.450C>G	c.(448-450)atC>atG	p.I150M	DIAPH3_ENST00000400319.1_Missense_Mutation_p.I80M|DIAPH3_ENST00000400320.1_Intron|DIAPH3_ENST00000400330.1_Missense_Mutation_p.I150M|DIAPH3_ENST00000377908.2_Missense_Mutation_p.I139M|DIAPH3_ENST00000267215.4_Missense_Mutation_p.I150M	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	150	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I150M(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTTCTTTTTTGATACTGAAGT	0.318																																						uc001vht.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(448-450)ATC>ATG		diaphanous homolog 3 isoform a							169.0	148.0	155.0					13																	60667807		1832	4075	5907	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60667807G>C	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.450C>G	13.37:g.60667807G>C	ENSP00000383178:p.Ile150Met					DIAPH3_uc001vhw.1_Missense_Mutation_p.I139M|DIAPH3_uc010aed.1_Intron|DIAPH3_uc010aee.1_Missense_Mutation_p.I80M	p.I150M	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	4	669	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	150			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.450C>G	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499628	0.64298	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000267215;ENST00000453990	D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53	6.16	6.16	0.99307	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.060974	0.64402	D	0.000003	D	0.90998	0.7169	L	0.55834	1.745	0.32580	N	0.528578	P;D;D	0.58620	0.871;0.963;0.983	P;P;P	0.57679	0.513;0.807;0.825	D	0.92217	0.5781	10	0.51188	T	0.08	.	12.8889	0.58058	0.0746:0.0:0.9254:0.0	.	80;139;150	A8MYX0;C9JDG1;Q9NSV4	.;.;DIAP3_HUMAN	M	150;150;139;80;139;80;150;150	ENSP00000383178:I150M;ENSP00000383184:I150M;ENSP00000367141:I139M;ENSP00000383173:I80M;ENSP00000267215:I150M	ENSP00000267215:I150M	I	-	3	3	DIAPH3	59565808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.475000	0.35409	2.937000	0.99478	0.650000	0.86243	ATC		PASS	0.318	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		3	86	3	86	---	---	---	---
TMTC4	84899	broad.mit.edu	37	13	101316528	101316528	+	Silent	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr13:101316528C>A	ENST00000376234.3	-	3	414	c.225G>T	c.(223-225)ctG>ctT	p.L75L	TMTC4_ENST00000328767.5_Intron|TMTC4_ENST00000342624.5_Silent_p.L94L	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	75						integral component of membrane (GO:0016021)		p.L94L(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGTTGCTGCTCAGTCTACTGC	0.582																																						uc001vou.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(223-225)CTG>CTT		transmembrane and tetratricopeptide repeat							68.0	78.0	75.0					13																	101316528		2016	4181	6197	SO:0001819	synonymous_variant	84899					integral to membrane	binding	g.chr13:101316528C>A		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.225G>T	13.37:g.101316528C>A						TMTC4_uc001vot.2_Silent_p.L94L|TMTC4_uc010tja.1_Intron	p.L75L	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN			3	385	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		75					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Silent	SNP	ENST00000376234.3	37	c.225G>T	CCDS41904.1																																																																																				PASS	0.582	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		4	31	4	31	---	---	---	---
POTEG	404785	broad.mit.edu	37	14	19566062	19566062	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr14:19566062C>A	ENST00000409832.3	+	6	1158	c.1106C>A	c.(1105-1107)tCt>tAt	p.S369Y	RNU6-1239P_ENST00000391310.1_RNA|CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	369								p.S369Y(2)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CTAAAAGTCTCTTCTGAAAAC	0.328																																						uc001vuz.1																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(1)	1						c.(1105-1107)TCT>TAT		POTE ankyrin domain family, member G							81.0	94.0	89.0					14																	19566062		1507	2699	4206	SO:0001583	missense	404785							g.chr14:19566062C>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1106C>A	14.37:g.19566062C>A	ENSP00000386971:p.Ser369Tyr					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_Intron	p.S369Y	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			6	1158	+			369					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.1106C>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	c	2.542	-0.305988	0.05458	.	.	ENSG00000222036	ENST00000409832	T	0.18810	2.19	1.56	-2.6	0.06190	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.10852	0.0265	N	0.24115	0.695	0.09310	N	1	P	0.37781	0.608	B	0.36289	0.221	T	0.18023	-1.0350	9	0.72032	D	0.01	.	2.6243	0.04925	0.0:0.3308:0.2653:0.4039	.	369	Q6S5H5	POTEG_HUMAN	Y	369	ENSP00000386971:S369Y	ENSP00000386971:S369Y	S	+	2	0	POTEG	18636062	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.305000	0.08188	-0.576000	0.05974	-1.206000	0.01644	TCT		PASS	0.328	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		11	537	11	537	---	---	---	---
OR6S1	341799	broad.mit.edu	37	14	21109188	21109188	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr14:21109188G>T	ENST00000320704.3	-	1	662	c.663C>A	c.(661-663)taC>taA	p.Y221*		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y221*(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CAATGAGGCCGTAGGACACAG	0.557																																						uc001vxv.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(661-663)TAC>TAA		olfactory receptor, family 6, subfamily S,							100.0	96.0	98.0					14																	21109188		2203	4300	6503	SO:0001587	stop_gained	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109188G>T	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.663C>A	14.37:g.21109188G>T	ENSP00000313110:p.Tyr221*						p.Y221*	NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	663	-	all_cancers(95;0.00304)		221			Helical; Name=5; (Potential).		Q6IFJ9	Nonsense_Mutation	SNP	ENST00000320704.3	37	c.663C>A	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451322	0.26074	.	.	ENSG00000181803	ENST00000320704	.	.	.	5.62	-2.61	0.06171	.	0.000000	0.44688	D	0.000423	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4522	10.8967	0.47027	0.5287:0.0:0.4713:0.0	.	.	.	.	X	221	.	ENSP00000313110:Y221X	Y	-	3	2	OR6S1	20179028	0.010000	0.17322	0.982000	0.44146	0.102000	0.19082	0.148000	0.16224	-0.407000	0.07576	-1.202000	0.01658	TAC		PASS	0.557	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			9	129	9	129	---	---	---	---
OR10G2	26534	broad.mit.edu	37	14	22102926	22102926	+	Missense_Mutation	SNP	G	G	T	rs371354035		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr14:22102926G>T	ENST00000542433.1	-	1	170	c.73C>A	c.(73-75)Cca>Aca	p.P25T		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P25T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CTTAGATTTGGGGGGTGAGAC	0.478																																						uc010tmc.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(73-75)CCA>ACA		olfactory receptor, family 10, subfamily G,							91.0	88.0	89.0					14																	22102926		2203	4300	6503	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102926G>T		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.73C>A	14.37:g.22102926G>T	ENSP00000445383:p.Pro25Thr						p.P25T	NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	73	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	25			Extracellular (Potential).		B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.73C>A	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	G	6.324	0.427920	0.11987	.	.	ENSG00000255582	ENST00000542433	T	0.00428	7.44	3.79	3.79	0.43588	.	0.000000	0.43110	D	0.000602	T	0.00524	0.0017	M	0.75447	2.3	0.09310	N	1	B	0.26400	0.148	B	0.30029	0.11	T	0.33445	-0.9868	10	0.59425	D	0.04	-2.2616	13.1729	0.59609	0.0:0.0:1.0:0.0	.	25	Q8NGC3	O10G2_HUMAN	T	25	ENSP00000445383:P25T	ENSP00000445383:P25T	P	-	1	0	OR10G2	21172766	0.000000	0.05858	0.621000	0.29145	0.030000	0.12068	0.095000	0.15127	1.941000	0.56285	0.563000	0.77884	CCA		PASS	0.478	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			23	134	23	134	---	---	---	---
PSMB11	122706	broad.mit.edu	37	14	23512009	23512009	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr14:23512009A>T	ENST00000408907.2	+	1	634	c.575A>T	c.(574-576)tAt>tTt	p.Y192F		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	192					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)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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 cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)	p.Y192F(3)		endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GACCGTGGCTATCGCTACGAC	0.627																																						uc010ake.1																			3	Substitution - Missense(3)		lung(3)		0						c.(574-576)TAT>TTT		proteasome beta 11 subunit precursor							43.0	45.0	44.0					14																	23512009		2112	4232	6344	SO:0001583	missense	122706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr14:23512009A>T		CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.575A>T	14.37:g.23512009A>T	ENSP00000386212:p.Tyr192Phe						p.Y192F	NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	634	+	all_cancers(95;3.3e-05)		192						Missense_Mutation	SNP	ENST00000408907.2	37	c.575A>T	CCDS41923.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.580053	0.46006	.	.	ENSG00000222028	ENST00000408907	T	0.26810	1.71	5.12	5.12	0.69794	.	0.149937	0.45126	D	0.000383	T	0.34978	0.0916	L	0.55213	1.73	0.34964	D	0.752437	P	0.50710	0.938	P	0.49853	0.624	T	0.52609	-0.8553	10	0.62326	D	0.03	-27.5852	13.9457	0.64082	1.0:0.0:0.0:0.0	.	192	A5LHX3	PSB11_HUMAN	F	192	ENSP00000386212:Y192F	ENSP00000386212:Y192F	Y	+	2	0	PSMB11	22581849	1.000000	0.71417	0.997000	0.53966	0.016000	0.09150	3.431000	0.52814	1.950000	0.56595	0.533000	0.62120	TAT		PASS	0.627	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1	NM_001099780		19	61	19	61	---	---	---	---
DNAAF2	55172	broad.mit.edu	37	14	50092567	50092567	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr14:50092567G>A	ENST00000298292.8	-	3	2287	c.2207C>T	c.(2206-2208)tCt>tTt	p.S736F	RP11-649E7.5_ENST00000555043.1_RNA|DNAAF2_ENST00000406043.3_Missense_Mutation_p.S688F	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	736					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)		p.S736F(2)|p.S227F(1)		kidney(1)|lung(4)	5						TATCATTTGAGAAACATCAAG	0.328																																						uc001wws.3																			3	Substitution - Missense(3)		lung(3)		0						c.(2206-2208)TCT>TTT		kintoun isoform 1							71.0	71.0	71.0					14																	50092567		2203	4298	6501	SO:0001583	missense	55172	Kartagener_syndrome			axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50092567G>A	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.2207C>T	14.37:g.50092567G>A	ENSP00000298292:p.Ser736Phe					SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Missense_Mutation_p.S688F	p.S736F	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN			3	2288	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		736					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	ENST00000298292.8	37	c.2207C>T	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840833	0.32513	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.15603	2.41;2.41	5.9	5.01	0.66863	.	0.931424	0.09031	N	0.858731	T	0.19287	0.0463	L	0.43152	1.355	0.25630	N	0.986313	B;B	0.27140	0.169;0.105	B;B	0.28553	0.091;0.042	T	0.21245	-1.0251	10	0.66056	D	0.02	.	11.3601	0.49638	0.0836:0.0:0.9164:0.0	.	688;736	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	F	736;688	ENSP00000298292:S736F;ENSP00000384862:S688F	ENSP00000298292:S736F	S	-	2	0	DNAAF2	49162317	0.966000	0.33281	0.443000	0.26883	0.840000	0.47671	1.233000	0.32648	1.512000	0.48834	0.551000	0.68910	TCT		PASS	0.328	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			11	95	11	95	---	---	---	---
DLGAP5	9787	broad.mit.edu	37	14	55618609	55618609	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr14:55618609C>A	ENST00000247191.2	-	17	2388	c.2172G>T	c.(2170-2172)atG>atT	p.M724I	DLGAP5_ENST00000395425.2_Missense_Mutation_p.M724I	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	724					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)	p.M724I(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						GAGGCAAACTCATTCTCTCAC	0.328																																						uc001xbs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2170-2172)ATG>ATT		discs large homolog 7 isoform a							87.0	82.0	84.0					14																	55618609		2203	4299	6502	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55618609C>A	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.2172G>T	14.37:g.55618609C>A	ENSP00000247191:p.Met724Ile					DLGAP5_uc001xbt.2_Missense_Mutation_p.M724I	p.M724I	NM_014750	NP_055565	Q15398	DLGP5_HUMAN			17	2389	-			724					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.2172G>T	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	1.767	-0.485413	0.04352	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.30182	1.54;1.54	4.53	0.279	0.15677	.	1.823450	0.02391	N	0.079702	T	0.22399	0.0540	L	0.32530	0.975	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.002	T	0.14172	-1.0482	10	0.37606	T	0.19	.	1.6011	0.02674	0.152:0.3565:0.2977:0.1937	.	724;724	A8MTM6;Q15398	.;DLGP5_HUMAN	I	724	ENSP00000378815:M724I;ENSP00000247191:M724I	ENSP00000247191:M724I	M	-	3	0	DLGAP5	54688362	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	0.124000	0.15728	-0.059000	0.13154	-0.175000	0.13238	ATG		PASS	0.328	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		27	100	27	100	---	---	---	---
GALNT16	57452	broad.mit.edu	37	14	69799873	69799873	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr14:69799873A>G	ENST00000337827.4	+	8	1177	c.850A>G	c.(850-852)Acc>Gcc	p.T284A	GALNT16_ENST00000553669.1_Missense_Mutation_p.T284A|GALNT16_ENST00000448469.3_Missense_Mutation_p.T284A	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	284					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)	p.T284A(1)									GACAGACCCCACCAGGCCCAT	0.617																																						uc010aqu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(850-852)ACC>GCC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							46.0	48.0	47.0					14																	69799873		2203	4300	6503	SO:0001583	missense	57452					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr14:69799873A>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.850A>G	14.37:g.69799873A>G	ENSP00000336729:p.Thr284Ala					GALNTL1_uc001xla.1_Missense_Mutation_p.T284A|GALNTL1_uc001xlb.1_Missense_Mutation_p.T284A	p.T284A	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)	8	943	+			284			Lumenal (Potential).		Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	c.850A>G	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.478279	0.84747	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.60424	0.19;0.19;0.19	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.69824	0.3154	L	0.45422	1.42	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.70000	-0.4992	10	0.48119	T	0.1	.	16.1742	0.81840	1.0:0.0:0.0:0.0	.	284;284	Q8N428;Q58A55	GLTL1_HUMAN;.	A	284	ENSP00000336729:T284A;ENSP00000402970:T284A;ENSP00000451200:T284A	ENSP00000336729:T284A	T	+	1	0	GALNTL1	68869626	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.101000	0.94219	2.223000	0.72356	0.482000	0.46254	ACC		PASS	0.617	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		18	76	18	76	---	---	---	---
PSEN1	5663	broad.mit.edu	37	14	73685865	73685865	+	Silent	SNP	C	C	T	rs200547750		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr14:73685865C>T	ENST00000324501.5	+	12	1544	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L	PSEN1_ENST00000557511.1_Silent_p.L366L|PSEN1_ENST00000357710.4_Silent_p.L420L|PSEN1_ENST00000406768.1_Silent_p.L332L|PSEN1_ENST00000344094.3_3'UTR|PSEN1_ENST00000261970.3_Silent_p.L366L|PSEN1_ENST00000394164.1_Silent_p.L420L	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	424	Poly-Leu.|Required for interaction with CTNNB1.				activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)	p.L424L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CATTATTACTCCTTGCCATTT	0.398																																						uc001xnr.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|kidney(1)	2						c.(1270-1272)CTC>CTT		presenilin 1 isoform I-467							255.0	235.0	242.0					14																	73685865		2203	4300	6503	SO:0001819	synonymous_variant	5663				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	g.chr14:73685865C>T	AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.1272C>T	14.37:g.73685865C>T						PSEN1_uc001xnv.2_Silent_p.L420L|PSEN1_uc010ark.2_Silent_p.L420L|PSEN1_uc001xnu.2_RNA	p.L424L	NM_000021	NP_000012	P49768	PSN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)	12	1556	+			424			Required for interaction with CTNNB1.|Poly-Leu.|Helical; (Potential).		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Silent	SNP	ENST00000324501.5	37	c.1272C>T	CCDS9812.1																																																																																				PASS	0.398	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2			30	377	30	377	---	---	---	---
GPATCH2L	55668	broad.mit.edu	37	14	76633045	76633045	+	Silent	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr14:76633045C>G	ENST00000261530.7	+	3	768	c.702C>G	c.(700-702)ctC>ctG	p.L234L	GPATCH2L_ENST00000557263.1_Silent_p.L234L|GPATCH2L_ENST00000556663.1_Silent_p.L234L|GPATCH2L_ENST00000312858.5_Silent_p.L234L	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	234								p.L234L(2)									ACACTGGGCTCTTTACCAATG	0.428																																						uc001xsh.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(700-702)CTC>CTG		hypothetical protein LOC55668 isoform 1							138.0	119.0	125.0					14																	76633045		2203	4300	6503	SO:0001819	synonymous_variant	55668							g.chr14:76633045C>G	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.702C>G	14.37:g.76633045C>G						C14orf118_uc001xsi.2_Silent_p.L234L|C14orf118_uc001xsj.1_Silent_p.L234L|C14orf118_uc001xsk.1_Silent_p.L234L|C14orf118_uc001xsl.2_RNA	p.L234L	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0172)	3	788	+			234					B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Silent	SNP	ENST00000261530.7	37	c.702C>G	CCDS9848.1																																																																																				PASS	0.428	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		9	48	9	48	---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95590807	95590807	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr14:95590807G>C	ENST00000526495.1	-	10	1393	c.1102C>G	c.(1102-1104)Ctt>Gtt	p.L368V	DICER1_ENST00000527414.1_Missense_Mutation_p.L368V|DICER1_ENST00000541352.1_Missense_Mutation_p.L368V|DICER1_ENST00000393063.1_Missense_Mutation_p.L368V|DICER1_ENST00000343455.3_Missense_Mutation_p.L368V			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	368	Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.L368V(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTCAGGTCAAGTGAGGCAGGT	0.393			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(1102-1104)CTT>GTT		dicer1							144.0	146.0	145.0					14																	95590807		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95590807G>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1102C>G	14.37:g.95590807G>C	ENSP00000437256:p.Leu368Val					DICER1_uc001ydv.2_Missense_Mutation_p.L358V|DICER1_uc001ydx.2_Missense_Mutation_p.L368V	p.L368V	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	9	1284	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	368			Required for interaction with PRKRA and TARBP2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.1102C>G	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880568	0.51801	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	L	0.47716	1.5	0.58432	D	0.999999	B	0.27656	0.184	B	0.24848	0.056	T	0.40776	-0.9545	10	0.12103	T	0.63	-20.397	19.4888	0.95042	0.0:0.0:1.0:0.0	.	368	Q9UPY3	DICER_HUMAN	V	368	ENSP00000343745:L368V;ENSP00000437256:L368V;ENSP00000376783:L368V;ENSP00000435681:L368V;ENSP00000444719:L368V	ENSP00000343745:L368V	L	-	1	0	DICER1	94660560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.359000	0.79477	2.607000	0.88179	0.585000	0.79938	CTT		PASS	0.393	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			30	229	30	229	---	---	---	---
VPS39	23339	broad.mit.edu	37	15	42453899	42453899	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr15:42453899T>C	ENST00000348544.4	-	25	2565	c.2566A>G	c.(2566-2568)Aag>Gag	p.K856E	VPS39_ENST00000318006.5_Missense_Mutation_p.K845E			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	856					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)	p.K845E(1)		breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ATCTTCTTCTTACACACCATG	0.527																																						uc001zpd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2566-2568)AAG>GAG		vacuolar protein sorting 39							326.0	292.0	304.0					15																	42453899		2203	4299	6502	SO:0001583	missense	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42453899T>C	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.2566A>G	15.37:g.42453899T>C	ENSP00000335193:p.Lys856Glu					VPS39_uc001zpc.2_Missense_Mutation_p.K845E|VPS39_uc001zpb.2_Missense_Mutation_p.K191E	p.K856E	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	25	2717	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	856					O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	c.2566A>G	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.159445	0.57368	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.44083	0.93;0.94	5.71	5.71	0.89125	Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 2 (1);	0.242747	0.47093	D	0.000254	T	0.37517	0.1006	L	0.47016	1.485	0.80722	D	1	B;B	0.18461	0.028;0.023	B;B	0.23716	0.048;0.043	T	0.20273	-1.0280	10	0.11182	T	0.66	-5.0724	15.9843	0.80138	0.0:0.0:0.0:1.0	.	856;845	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	E	845;856	ENSP00000326534:K845E;ENSP00000335193:K856E	ENSP00000326534:K845E	K	-	1	0	VPS39	40241191	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.174000	0.68829	0.459000	0.35465	AAG		PASS	0.527	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		13	324	13	324	---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43817909	43817909	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr15:43817909G>A	ENST00000300231.5	+	4	4688	c.4238G>A	c.(4237-4239)aGa>aAa	p.R1413K	MAP1A_ENST00000382031.1_Missense_Mutation_p.R1651K|MAP1A_ENST00000399453.1_Missense_Mutation_p.R1413K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1413					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)	p.R1413K(1)		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)	CAAAAGGGCAGAGACTTAGAG	0.453																																						uc001zrt.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(4237-4239)AGA>AAA		microtubule-associated protein 1A	Estramustine(DB01196)						81.0	80.0	80.0					15																	43817909		1897	4108	6005	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43817909G>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.4238G>A	15.37:g.43817909G>A	ENSP00000300231:p.Arg1413Lys						p.R1413K	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	4705	+		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)	1413					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.4238G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432225	0.43122	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02323	4.34;4.34;4.34	4.46	0.389	0.16269	.	.	.	.	.	T	0.01092	0.0036	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47699	-0.9097	9	0.02654	T	1	-3.4788	4.1911	0.10421	0.2872:0.331:0.3818:0.0	.	1413	P78559	MAP1A_HUMAN	K	1651;1413;1413	ENSP00000371462:R1651K;ENSP00000382380:R1413K;ENSP00000300231:R1413K	ENSP00000300231:R1413K	R	+	2	0	MAP1A	41605201	0.000000	0.05858	0.647000	0.29507	0.822000	0.46500	-0.886000	0.04157	0.230000	0.21059	0.563000	0.77884	AGA		PASS	0.453	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		4	102	4	102	---	---	---	---
MYO5C	55930	broad.mit.edu	37	15	52510865	52510865	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr15:52510865C>G	ENST00000261839.7	-	32	3966	c.3805G>C	c.(3805-3807)Gaa>Caa	p.E1269Q		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1269						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1269Q(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GTATGTATTTCATTTTGGGCT	0.433																																						uc010bff.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14						c.(3805-3807)GAA>CAA		myosin VC							72.0	65.0	67.0					15																	52510865		1884	4110	5994	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52510865C>G	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3805G>C	15.37:g.52510865C>G	ENSP00000261839:p.Glu1269Gln					MYO5C_uc010uga.1_RNA	p.E1269Q	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	32	3942	-			1269			Potential.		Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.3805G>C	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.508202	0.27036	.	.	ENSG00000128833	ENST00000261839	T	0.17054	2.3	5.97	5.97	0.96955	.	0.245644	0.40640	N	0.001043	T	0.14787	0.0357	N	0.19112	0.55	0.80722	D	1	B	0.24258	0.1	B	0.26864	0.074	T	0.07481	-1.0770	10	0.35671	T	0.21	.	18.602	0.91250	0.0:1.0:0.0:0.0	.	1269	Q9NQX4	MYO5C_HUMAN	Q	1269	ENSP00000261839:E1269Q	ENSP00000261839:E1269Q	E	-	1	0	MYO5C	50298157	0.996000	0.38824	0.296000	0.24974	0.313000	0.28021	2.004000	0.40854	2.820000	0.97059	0.655000	0.94253	GAA		PASS	0.433	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		18	56	18	56	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54793157	54793157	+	Nonsense_Mutation	SNP	T	T	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr15:54793157T>A	ENST00000260323.11	+	21	5282	c.5282T>A	c.(5281-5283)tTa>tAa	p.L1761*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.L1759*|UNC13C_ENST00000545554.1_Nonsense_Mutation_p.L1761*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1761	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.L1761*(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTATCTCACTTAATGAGAAGA	0.368																																						uc002ack.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(5281-5283)TTA>TAA		unc-13 homolog C							121.0	118.0	119.0					15																	54793157		1904	4123	6027	SO:0001587	stop_gained	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54793157T>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5282T>A	15.37:g.54793157T>A	ENSP00000260323:p.Leu1761*						p.L1761*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	20	5282	+			1761			MHD1.		Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	c.5282T>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	47	13.472795	0.99744	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.08	5.08	0.68730	.	0.263584	0.33309	N	0.005051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3203	0.66482	0.0:0.0:0.0:1.0	.	.	.	.	X	1761;1761;1759	.	ENSP00000260323:L1761X	L	+	2	0	UNC13C	52580449	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.811000	0.55620	2.031000	0.59945	0.533000	0.62120	TTA		PASS	0.368	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		37	159	37	159	---	---	---	---
MYO9A	4649	broad.mit.edu	37	15	72338400	72338400	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr15:72338400G>A	ENST00000356056.5	-	2	977	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	MYO9A_ENST00000424560.1_Missense_Mutation_p.R169C|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000444904.1_Missense_Mutation_p.R169C|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000564571.1_Missense_Mutation_p.R169C	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	169	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.R169C(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGCTTAAAGCGATTTCGTAGG	0.328																																						uc002atl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(505-507)CGC>TGC		myosin IXA							66.0	71.0	69.0					15																	72338400		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72338400G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.505C>T	15.37:g.72338400G>A	ENSP00000348349:p.Arg169Cys					MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Missense_Mutation_p.R169C|MYO9A_uc002atn.1_Missense_Mutation_p.R169C	p.R169C	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			2	978	-			169			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.505C>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	g	25.7	4.666451	0.88251	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.84944	-1.92;-1.92;-1.92	5.79	5.79	0.91817	Myosin head, motor domain (2);	.	.	.	.	D	0.96018	0.8703	H	0.98407	4.225	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	0.97205	0.9867	9	0.87932	D	0	.	20.1027	0.97880	0.0:0.0:1.0:0.0	.	169;169;169	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	C	169	ENSP00000348349:R169C;ENSP00000399162:R169C;ENSP00000398250:R169C	ENSP00000261864:R169C	R	-	1	0	MYO9A	70125454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.768000	0.98965	2.745000	0.94114	0.644000	0.83932	CGC		PASS	0.328	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		10	99	10	99	---	---	---	---
C15orf27	123591	broad.mit.edu	37	15	76452464	76452464	+	Silent	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr15:76452464G>A	ENST00000388942.3	+	5	687	c.411G>A	c.(409-411)gtG>gtA	p.V137V		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	137					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)	p.V137V(1)		endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TTGCTGGCGTGATTCACTGGA	0.537																																						uc002bbq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(409-411)GTG>GTA		hypothetical protein LOC123591							309.0	325.0	320.0					15																	76452464		2175	4267	6442	SO:0001819	synonymous_variant	123591					integral to membrane		g.chr15:76452464G>A	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.411G>A	15.37:g.76452464G>A						C15orf27_uc010bkp.2_5'UTR|C15orf27_uc002bbr.2_5'UTR	p.V137V	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN			5	566	+			137			Helical; (Potential).		Q8N993|Q96LL5	Silent	SNP	ENST00000388942.3	37	c.411G>A	CCDS10289.2																																																																																				PASS	0.537	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		22	281	22	281	---	---	---	---
SLC28A1	9154	broad.mit.edu	37	15	85487987	85487987	+	Splice_Site	SNP	G	G	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr15:85487987G>T	ENST00000286749.3	+	17	1853	c.1763G>T	c.(1762-1764)gGg>gTg	p.G588V	SLC28A1_ENST00000394573.1_Splice_Site_p.G588V|SLC28A1_ENST00000537624.1_Splice_Site_p.G588V|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000538177.1_Splice_Site_p.G422V			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	588					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.G588V(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CCCTCTACAGGGATCCTCTAC	0.597																																						uc002blg.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1762-1764)GGG>GTG		solute carrier family 28, member 1 isoform 1							74.0	75.0	75.0					15																	85487987		2203	4299	6502	SO:0001630	splice_region_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85487987G>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1763-1G>T	15.37:g.85487987G>T						SLC28A1_uc010bnb.2_Missense_Mutation_p.G588V|SLC28A1_uc010upe.1_Missense_Mutation_p.G422V|SLC28A1_uc010upf.1_Missense_Mutation_p.G588V|SLC28A1_uc010upg.1_Intron	p.G588V	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		18	1965	+			588			Helical; (Potential).		A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1763G>T	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742294	0.49151	.	.	ENSG00000156222	ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	4.61	4.61	0.57282	Na dependent nucleoside transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	H	0.98256	4.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.999	T	0.75280	-0.3373	9	.	.	.	.	14.9858	0.71348	0.0:0.0:1.0:0.0	.	588;422;588	F5H560;B7Z3L6;O00337	.;.;S28A1_HUMAN	V	422;588;588;588	ENSP00000443752:G422V;ENSP00000444700:G588V;ENSP00000286749:G588V;ENSP00000378074:G588V	.	G	+	2	0	SLC28A1	83288991	1.000000	0.71417	0.998000	0.56505	0.078000	0.17371	6.209000	0.72171	2.378000	0.81104	0.561000	0.74099	GGG		PASS	0.597	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2		Missense_Mutation	18	104	18	104	---	---	---	---
PALB2	79728	broad.mit.edu	37	16	23614875	23614875	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr16:23614875C>G	ENST00000261584.4	-	13	3618	c.3466G>C	c.(3466-3468)Gac>Cac	p.D1156H	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1156	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D1158H(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CAATGTTGGTCAGAGACAGGT	0.438			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002dlx.1			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	F|N|Mis	partner and localizer of BRCA2			"""L, O, E"""		Wilms tumor|medulloblastoma|AML ,breast			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11						c.(3466-3468)GAC>CAC	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	partner and localizer of BRCA2							110.0	99.0	103.0					16																	23614875		2197	4300	6497	SO:0001583	missense	79728	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of			double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23614875C>G		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.3466G>C	16.37:g.23614875C>G	ENSP00000261584:p.Asp1156His						p.D1156H	NM_024675	NP_078951	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	13	3666	-			1156			Interaction with RAD51 and BRCA2.|WD 7.		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.3466G>C	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788316	0.31593	.	.	ENSG00000083093	ENST00000261584	T	0.30981	1.51	5.77	4.81	0.61882	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.165261	0.42420	N	0.000718	T	0.34279	0.0892	M	0.74258	2.255	0.43222	D	0.995101	B	0.33238	0.403	B	0.26416	0.069	T	0.23904	-1.0175	10	0.54805	T	0.06	-3.7168	14.7623	0.69614	0.0:0.8549:0.1451:0.0	.	1156	Q86YC2	PALB2_HUMAN	H	1156	ENSP00000261584:D1156H	ENSP00000261584:D1156H	D	-	1	0	PALB2	23522376	0.955000	0.32602	0.974000	0.42286	0.447000	0.32167	1.527000	0.35975	1.421000	0.47157	0.561000	0.74099	GAC		PASS	0.438	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		14	147	14	147	---	---	---	---
ARL2BP	23568	broad.mit.edu	37	16	57282555	57282555	+	Splice_Site	SNP	C	C	A	rs201489348		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr16:57282555C>A	ENST00000219204.3	+	3	477	c.207C>A	c.(205-207)taC>taA	p.Y69*	ARL2BP_ENST00000562023.1_Intron|RP11-407G23.4_ENST00000562409.1_RNA|RP11-407G23.3_ENST00000564376.1_RNA	NM_012106.3	NP_036238.1	Q9Y2Y0	AR2BP_HUMAN	ADP-ribosylation factor-like 2 binding protein	69					maintenance of protein location in nucleus (GO:0051457)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of catalytic activity (GO:0050790)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	centrosome (GO:0005813)|cilium (GO:0005929)|midbody (GO:0030496)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	small GTPase regulator activity (GO:0005083)|transcription coactivator activity (GO:0003713)	p.Y69*(1)|p.Y69Y(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|urinary_tract(1)	12						TTAATGAATACGTAAGTAGAT	0.318																																						uc002elf.1																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)		0						c.(205-207)TAC>TAA		binder of Arl Two							67.0	67.0	67.0					16																	57282555		2198	4300	6498	SO:0001630	splice_region_variant	23568				maintenance of protein location in nucleus|positive regulation of tyrosine phosphorylation of Stat3 protein|signal transduction	centrosome|midbody|mitochondrial intermembrane space|nucleus|spindle	protein binding|small GTPase regulator activity|transcription coactivator activity	g.chr16:57282555C>A	AF126062	CCDS10776.1	16q13	2014-01-30			ENSG00000102931	ENSG00000102931			17146	protein-coding gene	gene with protein product	"""binder of Arl2"""	615407	"""retinitis pigmentosa 66 (autosomal recessive)"""	RP66		10488091, 18981177, 23849777	Standard	NM_012106		Approved	BART1, BART	uc002elf.1	Q9Y2Y0	OTTHUMG00000133459	ENST00000219204.3:c.207+1C>A	16.37:g.57282555C>A						ARL2BP_uc010ccy.1_RNA|ARL2BP_uc010vhl.1_Nonsense_Mutation_p.Y69*	p.Y69*	NM_012106	NP_036238	Q9Y2Y0	AR2BP_HUMAN			3	449	+			69					B3KQJ5|Q504R0	Nonsense_Mutation	SNP	ENST00000219204.3	37	c.207C>A	CCDS10776.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342380	0.61073	.	.	ENSG00000102931	ENST00000219204	.	.	.	5.77	1.07	0.20283	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0469	11.0401	0.47825	0.0:0.1973:0.0:0.8027	.	.	.	.	X	69	.	ENSP00000219204:Y69X	Y	+	3	2	ARL2BP	55840056	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	0.649000	0.24843	-0.086000	0.12550	-1.128000	0.01989	TAC		PASS	0.318	ARL2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257334.2	NM_012106	Nonsense_Mutation	4	127	4	127	---	---	---	---
KATNB1	10300	broad.mit.edu	37	16	57778365	57778365	+	Silent	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr16:57778365C>G	ENST00000379661.3	+	4	623	c.231C>G	c.(229-231)ctC>ctG	p.L77L		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1									p.L77L(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)				CCGAGGAGCTCATCGTGGCCG	0.642																																						uc002eml.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(229-231)CTC>CTG		katanin p80 subunit B 1							85.0	86.0	85.0					16																	57778365		2198	4300	6498	SO:0001819	synonymous_variant	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.chr16:57778365C>G	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.231C>G	16.37:g.57778365C>G							p.L77L	NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN			4	605	+		all_neural(199;0.223)	77			WD 2.|Interaction with centrosomes.|Interaction with dynein (By similarity).			Silent	SNP	ENST00000379661.3	37	c.231C>G	CCDS10788.1																																																																																				PASS	0.642	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3			10	115	10	115	---	---	---	---
CA5A	763	broad.mit.edu	37	16	87960375	87960375	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr16:87960375C>T	ENST00000309893.2	-	2	384	c.319G>A	c.(319-321)Gac>Aac	p.D107N	CA5A_ENST00000568801.1_5'UTR	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	107					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.D107N(1)		large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	GTGGCATCGTCAAATTCCACC	0.592																																						uc002fkn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(319-321)GAC>AAC		carbonic anhydrase VA, mitochondrial precursor							72.0	68.0	70.0					16																	87960375		2198	4300	6498	SO:0001583	missense	763				one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	g.chr16:87960375C>T	L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"""Carbonic anhydrases"""	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.319G>A	16.37:g.87960375C>T	ENSP00000309649:p.Asp107Asn						p.D107N	NM_001739	NP_001730	P35218	CAH5A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0513)	2	375	-			107					B2RPF2	Missense_Mutation	SNP	ENST00000309893.2	37	c.319G>A	CCDS10965.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.335823	0.60853	.	.	ENSG00000174990	ENST00000309893	T	0.68903	-0.36	4.1	4.1	0.47936	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.055457	0.64402	D	0.000001	T	0.73674	0.3617	L	0.45744	1.44	0.58432	D	0.999999	D	0.69078	0.997	D	0.62955	0.909	T	0.73398	-0.3995	10	0.36615	T	0.2	-35.5498	15.3917	0.74751	0.0:1.0:0.0:0.0	.	107	P35218	CAH5A_HUMAN	N	107	ENSP00000309649:D107N	ENSP00000309649:D107N	D	-	1	0	CA5A	86517876	1.000000	0.71417	0.889000	0.34880	0.239000	0.25481	7.141000	0.77330	1.868000	0.54150	0.555000	0.69702	GAC		PASS	0.592	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1	NM_001739		16	67	16	67	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr17:7577105G>A	ENST00000269305.4	-	8	1022	c.833C>T	c.(832-834)cCt>cTt	p.P278L	TP53_ENST00000420246.2_Missense_Mutation_p.P278L|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.P278L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P278L|TP53_ENST00000359597.4_Missense_Mutation_p.P278L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCTCTCCCAGGACAGGCACA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		128	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)	p.P278L(52)|p.P278S(48)|p.P278R(26)|p.P278T(21)|p.P278A(17)|p.P278H(11)|p.0?(7)|p.P278fs*67(5)|p.P278F(3)|p.P278fs*28(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)	large_intestine(18)|lung(17)|skin(15)|upper_aerodigestive_tract(12)|haematopoietic_and_lymphoid_tissue(11)|breast(9)|kidney(8)|central_nervous_system(7)|oesophagus(7)|ovary(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM961376	TP53	M		c.(832-834)CCT>CTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							72.0	63.0	66.0					17																	7577105		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577105G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.833C>T	17.37:g.7577105G>A	ENSP00000269305:p.Pro278Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.P278L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P146L|TP53_uc010cng.1_Missense_Mutation_p.P146L|TP53_uc002gii.1_Missense_Mutation_p.P146L|TP53_uc010cnh.1_Missense_Mutation_p.P278L|TP53_uc010cni.1_Missense_Mutation_p.P278L|TP53_uc002gij.2_Missense_Mutation_p.P278L	p.P278L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1027	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	278		P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.833C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814432	0.90790	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.13	4.16	0.48862	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	N	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96442	0.9327	10	0.87932	D	0	-13.7877	11.4227	0.49991	0.0873:0.0:0.9127:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	L	278;278;278;278;278;267;146	ENSP00000352610:P278L;ENSP00000269305:P278L;ENSP00000398846:P278L;ENSP00000391127:P278L;ENSP00000391478:P278L;ENSP00000425104:P146L	ENSP00000269305:P278L	P	-	2	0	TP53	7517830	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.573000	0.98181	1.392000	0.46585	0.462000	0.41574	CCT		PASS	0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	46	5	46	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7678290	7678290	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr17:7678290A>T	ENST00000572933.1	+	29	6175	c.4715A>T	c.(4714-4716)cAg>cTg	p.Q1572L	DNAH2_ENST00000389173.2_Missense_Mutation_p.Q1572L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1572	Stem. {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)	p.Q1572L(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGAGAATCCAGAAGGTCAGT	0.537																																						uc002giu.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(4714-4716)CAG>CTG		dynein heavy chain domain 3							48.0	51.0	50.0					17																	7678290		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7678290A>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4715A>T	17.37:g.7678290A>T	ENSP00000458355:p.Gln1572Leu						p.Q1572L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			28	4729	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1572			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.4715A>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.669920	0.29693	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.61510	0.1	5.33	5.33	0.75918	Dynein heavy chain, domain-2 (1);	0.128166	0.53938	D	0.000060	T	0.45657	0.1353	N	0.20328	0.56	0.80722	D	1	B	0.16166	0.016	B	0.29440	0.102	T	0.35699	-0.9778	10	0.29301	T	0.29	.	14.2884	0.66260	1.0:0.0:0.0:0.0	.	1572	Q9P225	DYH2_HUMAN	L	1572	ENSP00000373825:Q1572L	ENSP00000353818:Q1572L	Q	+	2	0	DNAH2	7619015	1.000000	0.71417	0.999000	0.59377	0.530000	0.34684	5.251000	0.65438	2.018000	0.59344	0.519000	0.50382	CAG		PASS	0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		12	66	12	66	---	---	---	---
GLP2R	9340	broad.mit.edu	37	17	9792918	9792918	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr17:9792918G>T	ENST00000262441.5	+	13	2071	c.1558G>T	c.(1558-1560)Gac>Tac	p.D520Y	GLP2R_ENST00000574745.1_Missense_Mutation_p.D340Y	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	520					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)	p.D520Y(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	GCCCCAACAGGACCATGCACG	0.622																																						uc002gmd.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(1558-1560)GAC>TAC		glucagon-like peptide 2 receptor precursor	Glucagon recombinant(DB00040)						32.0	31.0	32.0					17																	9792918		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9792918G>T	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1558G>T	17.37:g.9792918G>T	ENSP00000262441:p.Asp520Tyr						p.D520Y	NM_004246	NP_004237	O95838	GLP2R_HUMAN			13	1558	+			520			Cytoplasmic (Potential).		Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.1558G>T	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.781076	0.31502	.	.	ENSG00000065325	ENST00000396206;ENST00000262441	T	0.56444	0.46	5.19	5.19	0.71726	.	0.208153	0.24328	N	0.039489	T	0.34221	0.0890	N	0.22421	0.69	0.09310	N	1	P	0.45078	0.85	B	0.31016	0.123	T	0.41752	-0.9491	10	0.59425	D	0.04	.	14.2287	0.65877	0.0:0.0:1.0:0.0	.	520	O95838	GLP2R_HUMAN	Y	520	ENSP00000262441:D520Y	ENSP00000262441:D520Y	D	+	1	0	GLP2R	9733643	0.885000	0.30320	0.296000	0.24974	0.235000	0.25334	2.478000	0.45189	2.422000	0.82143	0.655000	0.94253	GAC		PASS	0.622	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			4	37	4	37	---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10216513	10216513	+	Silent	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr17:10216513C>T	ENST00000418404.3	-	29	4306	c.4143G>A	c.(4141-4143)acG>acA	p.T1381T	MYH13_ENST00000252172.4_Silent_p.T1381T|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1381					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.T1381T(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GAATGGCGTCCGTCTCGTATT	0.627																																						uc002gmk.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(4141-4143)ACG>ACA		myosin, heavy polypeptide 13, skeletal muscle							166.0	155.0	158.0					17																	10216513		2203	4300	6503	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10216513C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4143G>A	17.37:g.10216513C>T							p.T1381T	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			30	4233	-			1381			Potential.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.4143G>A	CCDS45613.1																																																																																				PASS	0.627	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		7	211	7	211	---	---	---	---
RAI1	10743	broad.mit.edu	37	17	17701460	17701460	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr17:17701460C>T	ENST00000353383.1	+	3	5667	c.5198C>T	c.(5197-5199)tCg>tTg	p.S1733L	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1733					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.S1733L(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GAGGAGGCCTCGCTGCCGCTT	0.642																																						uc002grm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(5197-5199)TCG>TTG		retinoic acid induced 1							35.0	38.0	37.0					17																	17701460		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17701460C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.5198C>T	17.37:g.17701460C>T	ENSP00000323074:p.Ser1733Leu					RAI1_uc002grn.1_Missense_Mutation_p.S1733L	p.S1733L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	5667	+			1733					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.5198C>T	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	c	5.519	0.280643	0.10458	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000315321	T	0.66995	-0.24	4.77	1.49	0.22878	.	0.694155	0.12661	N	0.449654	T	0.45736	0.1357	N	0.22421	0.69	0.09310	N	1	B	0.17667	0.023	B	0.06405	0.002	T	0.30909	-0.9962	10	0.45353	T	0.12	.	2.9321	0.05803	0.143:0.5569:0.139:0.161	.	1733	Q7Z5J4	RAI1_HUMAN	L	1733;1733;1621	ENSP00000323074:S1733L	ENSP00000322928:S1621L	S	+	2	0	RAI1	17642185	0.000000	0.05858	0.545000	0.28153	0.246000	0.25737	-0.415000	0.07106	0.465000	0.27167	-0.215000	0.12644	TCG		PASS	0.642	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		6	55	6	55	---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26942236	26942236	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr17:26942236G>C	ENST00000528896.2	-	39	6628	c.6554C>G	c.(6553-6555)tCt>tGt	p.S2185C	SGK494_ENST00000301037.5_5'Flank|KIAA0100_ENST00000579924.2_5'Flank|KIAA0100_ENST00000389003.3_Missense_Mutation_p.S2042C|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S2042C|SPAG5-AS1_ENST00000414744.1_RNA|RP11-192H23.4_ENST00000577790.1_5'Flank|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000534850.1_5'Flank|SGK494_ENST00000469832.3_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2185				S -> P (in Ref. 8; AAQ93061). {ECO:0000305}.		extracellular region (GO:0005576)		p.S2185C(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCCTGTTGCAGACTTCAGCCT	0.448																																						uc002hbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(6553-6555)TCT>TGT		hypothetical protein LOC9703 precursor							87.0	79.0	82.0					17																	26942236		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26942236G>C	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6554C>G	17.37:g.26942236G>C	ENSP00000436773:p.Ser2185Cys					SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Missense_Mutation_p.S514C	p.S2185C	NM_014680	NP_055495	Q14667	K0100_HUMAN			39	6653	-	Lung NSC(42;0.00431)		2185	S -> P (in Ref. 8; AAQ93061).				A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.6554C>G	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056553	0.55325	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.24151	1.87;1.87	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.18173	0.0436	N	0.08118	0	0.31791	N	0.629618	B	0.20368	0.044	B	0.12837	0.008	T	0.12016	-1.0564	10	0.66056	D	0.02	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	2185	Q14667	K0100_HUMAN	C	2185;2155;2185;2042	ENSP00000436773:S2185C;ENSP00000446443:S2042C	ENSP00000005905:S2185C	S	-	2	0	KIAA0100	23966363	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.359000	0.97115	2.826000	0.97356	0.561000	0.74099	TCT		PASS	0.448	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		5	113	5	113	---	---	---	---
CCL14	6358	broad.mit.edu	37	17	34311404	34311404	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr17:34311404G>C	ENST00000394509.4	-	2	272	c.164C>G	c.(163-165)aCc>aGc	p.T55S	CCL14_ENST00000435911.2_Missense_Mutation_p.T71S|CCL14_ENST00000586216.1_Missense_Mutation_p.T55S|CTB-186H2.3_ENST00000591669.1_5'Flank|CCL16_ENST00000293275.3_5'Flank|CCL15-CCL14_ENST00000481427.2_3'UTR|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000536149.1_Missense_Mutation_p.T71S|CCL14_ENST00000480944.2_Missense_Mutation_p.T77S			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	55					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)	extracellular space (GO:0005615)		p.T55S(1)		large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGGCTGTTGGTCTCATAGTA	0.577																																						uc010wcr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(163-165)ACC>AGC		chemokine (C-C motif) ligand 14 isoform 1							108.0	92.0	97.0					17																	34311404		2203	4300	6503	SO:0001583	missense	6358				cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	g.chr17:34311404G>C	Z49270	CCDS32624.1, CCDS45652.1	17q11.2	2014-04-10	2002-08-22	2002-08-23	ENSG00000213494	ENSG00000276409		"""Chemokine ligands"", ""Endogenous ligands"""	10612	protein-coding gene	gene with protein product		601392	"""small inducible cytokine subfamily A (Cys-Cys), member 14"""	SCYA14		8661057	Standard	NM_032963		Approved	HCC-1, HCC-3, NCC-2, SCYL2, CKb1, MCIF	uc010wcq.1	Q16627	OTTHUMG00000188403	ENST00000394509.4:c.164C>G	17.37:g.34311404G>C	ENSP00000378017:p.Thr55Ser					CCL16_uc002hkl.2_5'Flank|CCL16_uc002hkm.2_5'Flank|CCL14_uc010wcq.1_Missense_Mutation_p.T71S|CCL14_uc002hkn.2_RNA|CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA|uc002hkq.2_5'Flank	p.T55S	NM_032963	NP_116739	Q16627	CCL14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	243	-		Ovarian(249;0.17)	55					E1P649|E1P650|Q13954	Missense_Mutation	SNP	ENST00000394509.4	37	c.164C>G	CCDS32624.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774695	0.49786	.	.	ENSG00000213494	ENST00000394509;ENST00000536149;ENST00000435911	T;T;T	0.05199	3.48;3.48;3.48	5.14	3.01	0.34805	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.230857	0.25294	U	0.031720	T	0.05090	0.0136	.	.	.	0.23899	N	0.996521	B;B	0.30179	0.271;0.229	B;B	0.28139	0.086;0.052	T	0.31861	-0.9928	9	0.62326	D	0.03	.	6.2232	0.20693	0.0948:0.0:0.7235:0.1817	.	55;71	Q16627;Q16627-2	CCL14_HUMAN;.	S	55;71;71	ENSP00000378017:T55S;ENSP00000441771:T71S;ENSP00000409197:T71S	ENSP00000378017:T55S	T	-	2	0	CCL14	31335517	1.000000	0.71417	0.911000	0.35937	0.443000	0.32047	1.948000	0.40303	1.311000	0.45024	-0.219000	0.12488	ACC		PASS	0.577	CCL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272892.2	NM_032962		13	65	13	65	---	---	---	---
CDC6	990	broad.mit.edu	37	17	38447541	38447541	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr17:38447541G>C	ENST00000209728.4	+	3	881	c.410G>C	c.(409-411)aGa>aCa	p.R137T		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	137					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)	p.R137T(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TCTGAGCAGAGATGTCCACTG	0.383																																						uc002huj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(409-411)AGA>ACA		cell division cycle 6 protein							88.0	88.0	88.0					17																	38447541		2203	4300	6503	SO:0001583	missense	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38447541G>C	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.410G>C	17.37:g.38447541G>C	ENSP00000209728:p.Arg137Thr						p.R137T	NM_001254	NP_001245	Q99741	CDC6_HUMAN			3	620	+			137					Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.410G>C	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	G	7.852	0.724189	0.15439	.	.	ENSG00000094804	ENST00000209728	T	0.51325	0.71	5.41	-2.39	0.06602	.	0.876789	0.10307	N	0.690442	T	0.33206	0.0855	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22347	-1.0219	10	0.28530	T	0.3	-1.1866	6.1827	0.20480	0.5109:0.2487:0.2403:0.0	.	137	Q99741	CDC6_HUMAN	T	137	ENSP00000209728:R137T	ENSP00000209728:R137T	R	+	2	0	CDC6	35701067	0.064000	0.20934	0.012000	0.15200	0.001000	0.01503	0.592000	0.23984	-0.590000	0.05866	-0.898000	0.02899	AGA		PASS	0.383	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			10	101	10	101	---	---	---	---
COASY	80347	broad.mit.edu	37	17	40714959	40714959	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr17:40714959C>T	ENST00000393818.2	+	1	775	c.319C>T	c.(319-321)Ctc>Ttc	p.L107F	COASY_ENST00000449624.1_5'UTR|COASY_ENST00000421097.2_Missense_Mutation_p.L107F|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000420359.1_Missense_Mutation_p.L107F|COASY_ENST00000590958.1_Missense_Mutation_p.L136F	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	107					cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)	p.L107F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AGTCCAGAATCTCGCCCACCC	0.577																																						uc002hzz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(319-321)CTC>TTC		coenzyme A synthase isoform a							138.0	135.0	136.0					17																	40714959		2203	4300	6503	SO:0001583	missense	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40714959C>T	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.319C>T	17.37:g.40714959C>T	ENSP00000377406:p.Leu107Phe					COASY_uc010cyj.2_Missense_Mutation_p.L136F|COASY_uc002iab.2_5'UTR|COASY_uc002iad.2_Missense_Mutation_p.L107F|COASY_uc002iac.2_Missense_Mutation_p.L107F|COASY_uc002iae.2_5'Flank	p.L107F	NM_001042529	NP_001035994	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	2	476	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	107					B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	ENST00000393818.2	37	c.319C>T	CCDS11429.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.951312|4.951312	0.92660|0.92660	.|.	.|.	ENSG00000068120|ENSG00000068120	ENST00000421097;ENST00000420359;ENST00000393818|ENST00000426807	T;T|.	0.36878|.	1.23;1.23|.	5.59|5.59	4.62|4.62	0.57501|0.57501	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.53206|0.53206	0.1782|0.1782	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.76575|.	0.988;0.943|.	T|T	0.48843|0.48843	-0.8999|-0.8999	10|5	0.66056|.	D|.	0.02|.	-16.3532|-16.3532	12.217|12.217	0.54412|0.54412	0.0:0.917:0.0:0.083|0.0:0.917:0.0:0.083	.|.	136;107|.	Q13057-2;Q13057|.	.;COASY_HUMAN|.	F|F	136;107;107|82	ENSP00000413338:L107F;ENSP00000377406:L107F|.	ENSP00000377406:L107F|.	L|S	+|+	1|2	0|0	COASY|COASY	37968485|37968485	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.480000|3.480000	0.53172|0.53172	1.373000|1.373000	0.46208|0.46208	0.561000|0.561000	0.74099|0.74099	CTC|TCT		PASS	0.577	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		59	240	59	240	---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40843901	40843901	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr17:40843901G>A	ENST00000264638.4	+	16	2639	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	808					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.D808N(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CCACAGCCTGGATGTCTCCTT	0.577																																						uc002iay.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8						c.(2422-2424)GAT>AAT		contactin associated protein 1 precursor							187.0	193.0	191.0					17																	40843901		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40843901G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2422G>A	17.37:g.40843901G>A	ENSP00000264638:p.Asp808Asn					CNTNAP1_uc010wgs.1_RNA	p.D808N	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	16	2638	+		Breast(137;0.000143)	808			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000264638.4	37	c.2422G>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	36	5.638389	0.96693	.	.	ENSG00000108797	ENST00000264638	T	0.79247	-1.25	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.64402	D	0.000001	D	0.90246	0.6950	M	0.92026	3.265	0.58432	D	0.999997	D	0.54601	0.967	D	0.64877	0.93	D	0.91433	0.5167	10	0.59425	D	0.04	.	18.5345	0.91004	0.0:0.0:1.0:0.0	.	808	P78357	CNTP1_HUMAN	N	808	ENSP00000264638:D808N	ENSP00000264638:D808N	D	+	1	0	CNTNAP1	38097427	1.000000	0.71417	0.340000	0.25575	0.932000	0.56968	9.604000	0.98317	2.755000	0.94549	0.655000	0.94253	GAT		PASS	0.577	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		78	380	78	380	---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41246585	41246585	+	Missense_Mutation	SNP	C	C	A	rs80359872		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr17:41246585C>A	ENST00000357654.3	-	10	1081	c.963G>T	c.(961-963)tgG>tgT	p.W321C	BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.W321C|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.W321C|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.W274C|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.W321C|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.W25C	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	321					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.W321C(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TACTTCCAGCCCATCTGTTAT	0.408			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		1	Substitution - Missense(1)		lung(1)	ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(961-963)TGG>TGT	Homologous_recombination	breast cancer 1, early onset isoform 1							181.0	168.0	172.0					17																	41246585		2203	4300	6503	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41246585C>A	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.963G>T	17.37:g.41246585C>A	ENSP00000350283:p.Trp321Cys	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.W250C|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.W274C|BRCA1_uc002ict.2_Missense_Mutation_p.W321C|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.W321C|BRCA1_uc002ide.1_Missense_Mutation_p.W152C|BRCA1_uc010cyy.1_Missense_Mutation_p.W321C|BRCA1_uc010whs.1_Missense_Mutation_p.W321C|BRCA1_uc010cyz.2_Missense_Mutation_p.W274C|BRCA1_uc010cza.2_Missense_Mutation_p.W295C|BRCA1_uc010wht.1_Missense_Mutation_p.W25C	p.W321C	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	1195	-		Breast(137;0.000717)	321					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.963G>T	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.22|15.22	2.770033|2.770033	0.49680|0.49680	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000473961|ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123	.|D;D;D;D;D;D;D;D;D;D	.|0.97430	.|-2.46;-2.5;-2.48;-2.24;-2.46;-2.59;-2.93;-4.38;-2.55;-2.62	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	.|0.516425	.|0.18290	.|N	.|0.145729	D|D	0.99029|0.99029	0.9668|0.9668	H|H	0.96633|0.96633	3.855|3.855	0.58432|0.58432	D|D	0.99999|0.99999	.|D;D;D;D;D;D	.|0.89917	.|0.993;0.993;0.999;0.999;1.0;1.0	.|P;P;D;D;D;D	.|0.81914	.|0.72;0.72;0.95;0.968;0.995;0.986	D|D	0.99777|0.99777	1.1026|1.1026	5|10	.|0.87932	.|D	.|0	.|.	16.9223|16.9223	0.86167|0.86167	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|321;280;321;321;321;321	.|E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.|.;.;.;.;BRCA1_HUMAN;.	V|C	187|321;321;321;321;25;321;274;321;295;25;321	.|ENSP00000350283:W321C;ENSP00000326002:W321C;ENSP00000246907:W321C;ENSP00000310938:W25C;ENSP00000418960:W321C;ENSP00000418775:W274C;ENSP00000419274:W321C;ENSP00000419988:W295C;ENSP00000418986:W25C;ENSP00000419103:W321C	.|ENSP00000310938:W25C	G|W	-|-	2|3	0|0	BRCA1|BRCA1	38500111|38500111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.644000|0.644000	0.38419|0.38419	1.336000|1.336000	0.33850|0.33850	2.730000|2.730000	0.93505|0.93505	0.655000|0.655000	0.94253|0.94253	GGG|TGG		PASS	0.408	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		20	231	20	231	---	---	---	---
PLEKHM1	9842	broad.mit.edu	37	17	43515290	43515290	+	Silent	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr17:43515290C>A	ENST00000430334.3	-	12	3238	c.3105G>T	c.(3103-3105)gtG>gtT	p.V1035V	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Silent_p.V946V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	1035					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)	p.V1035V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CCTTCTTCACCACAGCCTGGC	0.652																																						uc002ija.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3103-3105)GTG>GTT		pleckstrin homology domain containing, family M							52.0	52.0	52.0					17																	43515290		2203	4300	6503	SO:0001819	synonymous_variant	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43515290C>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.3105G>T	17.37:g.43515290C>A						PLEKHM1_uc010wjm.1_Silent_p.V1007V|PLEKHM1_uc002ijb.2_Silent_p.V510V	p.V1035V	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN			12	3275	-	Renal(3;0.0405)		1035			Phorbol-ester/DAG-type.		Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	ENST00000430334.3	37	c.3105G>T	CCDS32671.1																																																																																				PASS	0.652	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		15	78	15	78	---	---	---	---
NPEPPS	9520	broad.mit.edu	37	17	45682807	45682807	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr17:45682807C>T	ENST00000322157.4	+	17	2221	c.1984C>T	c.(1984-1986)Ctc>Ttc	p.L662F	NPEPPS_ENST00000544660.1_Missense_Mutation_p.L582F|NPEPPS_ENST00000530173.1_Missense_Mutation_p.L658F|RP11-580I16.2_ENST00000582389.1_RNA|RP11-580I16.2_ENST00000582066.1_RNA	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	662					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L662F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						CCTGGGGATTCTCTCAACTCT	0.463																																						uc002ilr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1984-1986)CTC>TTC		aminopeptidase puromycin sensitive							89.0	79.0	82.0					17																	45682807		1849	4096	5945	SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45682807C>T	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1984C>T	17.37:g.45682807C>T	ENSP00000320324:p.Leu662Phe					NPEPPS_uc010wkt.1_Missense_Mutation_p.L658F|NPEPPS_uc010wku.1_Missense_Mutation_p.L626F|NPEPPS_uc010wkv.1_Missense_Mutation_p.L216F|NPEPPS_uc002ils.1_Missense_Mutation_p.L95F	p.L662F	NM_006310	NP_006301	P55786	PSA_HUMAN			17	2207	+			662					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.1984C>T	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627085	0.87560	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000544660	T;T;T	0.07567	3.18;3.18;3.18	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.25005	0.0607	L	0.56340	1.77	0.80722	D	1	D;D;D	0.59767	0.986;0.971;0.986	P;P;P	0.61328	0.84;0.887;0.887	T	0.00002	-1.2612	10	0.44086	T	0.13	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	658;345;662	E9PLK3;B7Z1H4;P55786	.;.;PSA_HUMAN	F	658;662;582	ENSP00000433287:L658F;ENSP00000320324:L662F;ENSP00000442461:L582F	ENSP00000320324:L662F	L	+	1	0	NPEPPS	43037806	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.909000	0.63314	2.937000	0.99478	0.650000	0.86243	CTC		PASS	0.463	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		3	23	3	23	---	---	---	---
NXPH3	11248	broad.mit.edu	37	17	47656017	47656017	+	Silent	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr17:47656017C>T	ENST00000328741.5	+	2	476	c.114C>T	c.(112-114)caC>caT	p.H38H	RP5-1029K10.4_ENST00000503624.1_RNA|NXPH3_ENST00000513748.1_Silent_p.H38H	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	38	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.H38H(1)		endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					GTGATGACCACGAGGGCCAGC	0.657																																						uc002ipa.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(112-114)CAC>CAT		neurexophilin 3 precursor							43.0	47.0	46.0					17																	47656017		2203	4300	6503	SO:0001819	synonymous_variant	11248				neuropeptide signaling pathway	extracellular region		g.chr17:47656017C>T	AF043468	CCDS11550.1	17q	2008-07-03				ENSG00000182575			8077	protein-coding gene	gene with protein product		604636				9570794	Standard	NM_007225		Approved	NPH3	uc002ipa.3	O95157		ENST00000328741.5:c.114C>T	17.37:g.47656017C>T						NXPH3_uc010wlw.1_Silent_p.H38H	p.H38H	NM_007225	NP_009156	O95157	NXPH3_HUMAN			2	398	+	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)		38			II.		Q8NDC3|Q8TBF6|Q9ULR1	Silent	SNP	ENST00000328741.5	37	c.114C>T	CCDS11550.1																																																																																				PASS	0.657	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365143.1			4	108	4	108	---	---	---	---
EME1	146956	broad.mit.edu	37	17	48458295	48458295	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr17:48458295G>C	ENST00000338165.4	+	9	1790	c.1708G>C	c.(1708-1710)Gac>Cac	p.D570H	EME1_ENST00000511648.2_Missense_Mutation_p.D583H|EME1_ENST00000393271.2_Missense_Mutation_p.D583H	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	570					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.D570H(2)		endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AGATAGTGCTGACTGATTCTA	0.502								Direct reversal of damage;Homologous recombination																														uc002iqs.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1708-1710)GAC>CAC	Direct_reversal_of_damage|Homologous_recombination	essential meiotic endonuclease 1 homolog 1							94.0	77.0	83.0					17																	48458295		2203	4300	6503	SO:0001583	missense	146956				DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding	g.chr17:48458295G>C	BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.1708G>C	17.37:g.48458295G>C	ENSP00000339897:p.Asp570His					EME1_uc010dbp.1_Missense_Mutation_p.D583H|EME1_uc010dbq.1_RNA|uc010wmk.1_5'Flank	p.D570H	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		9	1781	+	Breast(11;5.62e-19)		570					Q96N62	Missense_Mutation	SNP	ENST00000338165.4	37	c.1708G>C	CCDS11565.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909325	0.52439	.	.	ENSG00000154920	ENST00000338165;ENST00000393271;ENST00000511648	T;T;T	0.15834	2.4;2.39;2.39	6.16	6.16	0.99307	.	0.196582	0.36167	N	0.002757	T	0.34948	0.0915	L	0.44542	1.39	0.80722	D	1	D;D	0.69078	0.997;0.995	D;P	0.63192	0.912;0.819	T	0.00569	-1.1666	10	0.87932	D	0	-5.0994	19.0403	0.92995	0.0:0.0:1.0:0.0	.	583;570	Q96AY2-2;Q96AY2	.;EME1_HUMAN	H	570;583;583	ENSP00000339897:D570H;ENSP00000376952:D583H;ENSP00000421700:D583H	ENSP00000339897:D570H	D	+	1	0	EME1	45813294	0.999000	0.42202	0.983000	0.44433	0.042000	0.13812	3.569000	0.53827	2.937000	0.99478	0.650000	0.86243	GAC		PASS	0.502	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463		3	73	3	73	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56569101	56569101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr17:56569101C>A	ENST00000323456.5	-	19	3635	c.3511G>T	c.(3511-3513)Gaa>Taa	p.E1171*	MTMR4_ENST00000579925.1_Nonsense_Mutation_p.E1114*	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1171					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.E1171*(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGAATGTGTTCGTAACATGAG	0.483																																						uc002iwj.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(3511-3513)GAA>TAA		myotubularin related protein 4							115.0	99.0	105.0					17																	56569101		2203	4300	6503	SO:0001587	stop_gained	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56569101C>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3511G>T	17.37:g.56569101C>A	ENSP00000325285:p.Glu1171*						p.E1171*	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN			19	3621	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1171			FYVE-type.		D3DTZ6|Q8IV27|Q9Y4D5	Nonsense_Mutation	SNP	ENST00000323456.5	37	c.3511G>T	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	42	9.703107	0.99242	.	.	ENSG00000108389	ENST00000323456	.	.	.	6.07	6.07	0.98685	.	0.046468	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.6321	0.95713	0.0:1.0:0.0:0.0	.	.	.	.	X	1171	.	ENSP00000325285:E1171X	E	-	1	0	MTMR4	53924100	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.487000	0.81328	2.884000	0.98904	0.655000	0.94253	GAA		PASS	0.483	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		20	103	20	103	---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73732131	73732131	+	Splice_Site	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr17:73732131G>A	ENST00000200181.3	+	14	1844		c.e14-1		ITGB4_ENST00000579662.1_Splice_Site|ITGB4_ENST00000450894.3_Splice_Site|ITGB4_ENST00000584558.1_Splice_Site|ITGB4_ENST00000449880.2_Splice_Site|ITGB4_ENST00000339591.3_Splice_Site	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4						amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTCTCTGCAGACCGAGGACG	0.612																																						uc002jpg.2																			1	Unknown(1)		lung(1)	lung(4)	4						c.e14-1		integrin beta 4 isoform 1 precursor							199.0	163.0	175.0					17																	73732131		2203	4300	6503	SO:0001630	splice_region_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73732131G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1658-1G>A	17.37:g.73732131G>A						ITGB4_uc002jph.2_Splice_Site_p.D553_splice|ITGB4_uc010dgo.2_Splice_Site_p.D553_splice|ITGB4_uc002jpi.3_Splice_Site_p.D553_splice|ITGB4_uc010dgp.1_Splice_Site_p.D553_splice|ITGB4_uc002jpj.2_Splice_Site_p.D553_splice|ITGB4_uc010wsh.1_Splice_Site_p.D108_splice	p.D553_splice	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		14	1845	+	all_cancers(13;1.5e-07)							A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Splice_Site	SNP	ENST00000200181.3	37	c.1658_splice	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450385	0.84101	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2412	0.89968	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGB4	71243726	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.201000	0.95017	2.285000	0.76669	0.558000	0.71614	.		PASS	0.612	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1		Intron	15	266	15	266	---	---	---	---
RNF157	114804	broad.mit.edu	37	17	74163754	74163754	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr17:74163754C>T	ENST00000269391.6	-	4	553	c.421G>A	c.(421-423)Gag>Aag	p.E141K	RNF157_ENST00000319945.6_Missense_Mutation_p.E141K	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	141							zinc ion binding (GO:0008270)	p.E751K(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TTCTGGAACTCTTCCGTGGCC	0.483																																					GBM(186;507 2120 27388 27773 52994)	uc002jqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(421-423)GAG>AAG		ring finger protein 157							157.0	141.0	147.0					17																	74163754		2203	4300	6503	SO:0001583	missense	114804						zinc ion binding	g.chr17:74163754C>T	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.421G>A	17.37:g.74163754C>T	ENSP00000269391:p.Glu141Lys					RNF157_uc002jra.2_Missense_Mutation_p.E141K	p.E141K	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		4	490	-			141					Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	c.421G>A	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383597	0.95967	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.36520	1.25;1.25	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.66489	0.2794	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;0.981	D;D	0.80764	0.994;0.914	T	0.72381	-0.4311	10	0.56958	D	0.05	-12.7107	18.6057	0.91265	0.0:1.0:0.0:0.0	.	141;141	Q96PX1-2;Q96PX1	.;RN157_HUMAN	K	141;141;103	ENSP00000269391:E141K;ENSP00000321837:E141K	ENSP00000269391:E141K	E	-	1	0	RNF157	71675349	1.000000	0.71417	0.996000	0.52242	0.877000	0.50540	7.428000	0.80296	2.458000	0.83093	0.561000	0.74099	GAG		PASS	0.483	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		10	157	10	157	---	---	---	---
CARD14	79092	broad.mit.edu	37	17	78165148	78165148	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr17:78165148G>C	ENST00000573882.1	+	10	1652	c.1116G>C	c.(1114-1116)caG>caC	p.Q372H	CARD14_ENST00000570421.1_Missense_Mutation_p.Q372H|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Missense_Mutation_p.Q135H|CARD14_ENST00000344227.2_Missense_Mutation_p.Q372H			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	372					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)	p.Q135H(1)|p.Q372H(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ACAGTGCTCAGAGGGAGATTT	0.657																																						uc002jxw.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(1114-1116)CAG>CAC		caspase recruitment domain protein 14 isoform 1							68.0	63.0	64.0					17																	78165148		2203	4300	6503	SO:0001583	missense	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78165148G>C	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1116G>C	17.37:g.78165148G>C	ENSP00000458715:p.Gln372His					CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.Q372H|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Missense_Mutation_p.Q135H|CARD14_uc010dhu.1_Missense_Mutation_p.Q170H	p.Q372H	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		8	1311	+	all_neural(118;0.0952)		372			Potential.		B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	c.1116G>C	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371071	0.42003	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.37752	1.18;1.18	4.2	3.23	0.37069	.	0.063532	0.64402	D	0.000005	T	0.48205	0.1487	L	0.48362	1.52	0.41941	D	0.990619	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.996;0.999;0.993	T	0.45585	-0.9251	10	0.87932	D	0	-20.9797	7.6449	0.28315	0.2014:0.0:0.7986:0.0	.	372;135;372	B8QQJ3;E7ETJ2;Q9BXL6	.;.;CAR14_HUMAN	H	372;135;135	ENSP00000344549:Q372H;ENSP00000376229:Q135H	ENSP00000308507:Q135H	Q	+	3	2	CARD14	75779743	1.000000	0.71417	0.159000	0.22649	0.126000	0.20510	3.449000	0.52950	0.754000	0.32968	0.655000	0.94253	CAG		PASS	0.657	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			8	109	8	109	---	---	---	---
TJP3	27134	broad.mit.edu	37	19	3740705	3740705	+	Nonsense_Mutation	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr19:3740705C>G	ENST00000541714.2	+	14	2249	c.1787C>G	c.(1786-1788)tCa>tGa	p.S596*	TJP3_ENST00000587686.1_Nonsense_Mutation_p.S615*|TJP3_ENST00000262968.9_Nonsense_Mutation_p.S629*|TJP3_ENST00000539908.2_Nonsense_Mutation_p.S560*|TJP3_ENST00000382008.3_Nonsense_Mutation_p.S610*|TJP3_ENST00000589378.1_Nonsense_Mutation_p.S605*	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	596	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)		p.S629*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGACCTCTCAGCTCTGACC	0.687																																						uc010xhv.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1885-1887)TCA>TGA		tight junction protein 3							22.0	25.0	24.0					19																	3740705		2201	4299	6500	SO:0001587	stop_gained	27134					tight junction	protein binding	g.chr19:3740705C>G	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1787C>G	19.37:g.3740705C>G	ENSP00000439278:p.Ser596*					TJP3_uc010xhs.1_Nonsense_Mutation_p.S596*|TJP3_uc010xht.1_Nonsense_Mutation_p.S560*|TJP3_uc010xhu.1_Nonsense_Mutation_p.S605*|TJP3_uc010xhw.1_Nonsense_Mutation_p.S615*	p.S629*	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1886	+			610			Guanylate kinase-like.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Nonsense_Mutation	SNP	ENST00000541714.2	37	c.1886C>G	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	C	37	6.498520	0.97616	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	.	.	.	5.14	5.14	0.70334	.	0.184659	0.40818	N	0.001003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	17.1681	0.86821	0.0:1.0:0.0:0.0	.	.	.	.	X	596;560;610;629	.	ENSP00000262968:S629X	S	+	2	0	TJP3	3691705	1.000000	0.71417	0.752000	0.31206	0.392000	0.30506	7.035000	0.76517	2.374000	0.81015	0.655000	0.94253	TCA		PASS	0.687	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			5	48	5	48	---	---	---	---
CATSPERD	257062	broad.mit.edu	37	19	5776281	5776281	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr19:5776281A>G	ENST00000381624.3	+	21	2112	c.2051A>G	c.(2050-2052)aAt>aGt	p.N684S	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	684					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.N684S(1)									TTCGGCCACAATGGCTTTTAT	0.577																																						uc002mda.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2050-2052)AAT>AGT		transmembrane protein 146 precursor							99.0	100.0	99.0					19																	5776281		1936	4134	6070	SO:0001583	missense	257062					integral to membrane		g.chr19:5776281A>G	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.2051A>G	19.37:g.5776281A>G	ENSP00000371037:p.Asn684Ser						p.N684S	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			21	2112	+			684			Extracellular (Potential).		Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.2051A>G	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	A	11.72	1.721361	0.30503	.	.	ENSG00000174898	ENST00000381624;ENST00000381613;ENST00000448307	T	0.22539	1.95	3.97	3.97	0.46021	.	0.470447	0.17697	N	0.165047	T	0.27933	0.0688	N	0.25647	0.755	0.38780	D	0.95475	D	0.89917	1.0	D	0.85130	0.997	T	0.04737	-1.0930	10	0.18276	T	0.48	-18.9541	9.3992	0.38422	1.0:0.0:0.0:0.0	.	684	Q86XM0	TM146_HUMAN	S	684;353;53	ENSP00000371037:N684S	ENSP00000371026:N353S	N	+	2	0	TMEM146	5727281	0.674000	0.27549	0.021000	0.16686	0.119000	0.20118	3.519000	0.53458	1.808000	0.52836	0.260000	0.18958	AAT		PASS	0.577	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		12	82	12	82	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8154983	8154983	+	Splice_Site	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr19:8154983C>T	ENST00000600128.1	-	49	6598	c.6184G>A	c.(6184-6186)Gct>Act	p.A2062T	FBN3_ENST00000601739.1_Splice_Site_p.A2062T|FBN3_ENST00000270509.2_Splice_Site_p.A2062T			Q75N90	FBN3_HUMAN	fibrillin 3	2062	TB 8.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.A2062T(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGCACTCACCGCTGCCCTCC	0.632																																						uc002mjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(6184-6186)GCT>ACT		fibrillin 3 precursor							39.0	41.0	40.0					19																	8154983		2203	4300	6503	SO:0001630	splice_region_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8154983C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6184+1G>A	19.37:g.8154983C>T						FBN3_uc002mje.2_5'Flank	p.A2062T	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			48	6205	-			2062			TB 8.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.6184G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.399951	0.25291	.	.	ENSG00000142449	ENST00000270509	D	0.93366	-3.21	3.83	3.83	0.44106	Matrix fibril-associated (3);TGF-beta binding (1);	0.570599	0.17524	U	0.171130	D	0.91791	0.7403	L	0.45698	1.435	0.52501	D	0.999957	D	0.53885	0.963	P	0.46237	0.508	D	0.90922	0.4784	9	.	.	.	.	16.0968	0.81132	0.0:1.0:0.0:0.0	.	2062	Q75N90	FBN3_HUMAN	T	2062	ENSP00000270509:A2062T	.	A	-	1	0	FBN3	8060983	1.000000	0.71417	0.843000	0.33291	0.013000	0.08279	5.568000	0.67385	1.836000	0.53414	0.462000	0.41574	GCT		PASS	0.632	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	Missense_Mutation	3	67	3	67	---	---	---	---
MYO1F	4542	broad.mit.edu	37	19	8601411	8601411	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr19:8601411G>T	ENST00000338257.8	-	18	2137	c.1870C>A	c.(1870-1872)Cgc>Agc	p.R624S		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	624	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R624S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AACTGGCGGCGGTAGGCGAAG	0.642																																						uc002mkg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1870-1872)CGC>AGC		myosin IF							55.0	68.0	64.0					19																	8601411		2019	4173	6192	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8601411G>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1870C>A	19.37:g.8601411G>T	ENSP00000344871:p.Arg624Ser						p.R624S	NM_012335	NP_036467	O00160	MYO1F_HUMAN			18	1984	-			624			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.1870C>A	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800609	0.90538	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.97811	-4.55	4.83	3.75	0.43078	Myosin head, motor domain (2);	0.063972	0.64402	D	0.000005	D	0.99007	0.9661	H	0.99197	4.465	0.80722	D	1	P	0.45902	0.868	P	0.52627	0.704	D	0.98808	1.0742	10	0.87932	D	0	.	13.9167	0.63902	0.0:0.1536:0.8464:0.0	.	624	O00160	MYO1F_HUMAN	S	669;624	ENSP00000344871:R624S	ENSP00000304899:R669S	R	-	1	0	MYO1F	8507411	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.871000	0.56077	0.986000	0.38683	0.454000	0.30748	CGC		PASS	0.642	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			13	100	13	100	---	---	---	---
MAST1	22983	broad.mit.edu	37	19	12962980	12962980	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr19:12962980G>T	ENST00000251472.4	+	9	967	c.928G>T	c.(928-930)Gcc>Tcc	p.A310S	MAST1_ENST00000591495.1_Missense_Mutation_p.A306S	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.A310S(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGAAGGACACGCCAAGGAGGG	0.652																																						uc002mvm.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(928-930)GCC>TCC		microtubule associated serine/threonine kinase							60.0	66.0	64.0					19																	12962980		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12962980G>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.928G>T	19.37:g.12962980G>T	ENSP00000251472:p.Ala310Ser					MAST1_uc002mvk.2_Missense_Mutation_p.A306S	p.A310S	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			9	1056	+			310						Missense_Mutation	SNP	ENST00000251472.4	37	c.928G>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	35	5.440845	0.96168	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.42900	0.96	5.49	5.49	0.81192	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.000000	0.85682	D	0.000000	T	0.70876	0.3274	M	0.90483	3.12	0.52099	D	0.999944	D;D	0.65815	0.995;0.964	D;P	0.68765	0.96;0.819	T	0.76846	-0.2808	10	0.87932	D	0	-34.9906	17.246	0.87028	0.0:0.0:1.0:0.0	.	310;310	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	S	310	ENSP00000251472:A310S	ENSP00000251472:A310S	A	+	1	0	MAST1	12823980	1.000000	0.71417	0.993000	0.49108	0.968000	0.65278	9.796000	0.99103	2.765000	0.95021	0.591000	0.81541	GCC		PASS	0.652	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		12	98	12	98	---	---	---	---
C19orf57	79173	broad.mit.edu	37	19	14000131	14000131	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr19:14000131C>T	ENST00000586783.1	-	5	1537	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q	C19orf57_ENST00000346736.2_Missense_Mutation_p.R513Q|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000454313.1_Missense_Mutation_p.R513Q			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	513					multicellular organismal development (GO:0007275)			p.R513Q(1)		breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CAGGTGGTCTCGCTGCCCTGC	0.597																																						uc002mxl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1537-1539)CGA>CAA		hypothetical protein LOC79173							60.0	65.0	63.0					19																	14000131		2203	4300	6503	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14000131C>T	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.1538G>A	19.37:g.14000131C>T	ENSP00000465822:p.Arg513Gln					C19orf57_uc002mxk.1_Missense_Mutation_p.R395Q|C19orf57_uc002mxm.1_Intron	p.R513Q	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		6	1597	-			513					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.1538G>A		.	.	.	.	.	.	.	.	.	.	C	7.260	0.604923	0.14002	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.29655	1.56;1.56	4.35	-7.33	0.01431	.	.	.	.	.	T	0.10252	0.0251	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28870	-1.0030	9	0.12766	T	0.61	3.3298	4.628	0.12488	0.0797:0.4325:0.1575:0.3302	.	513;513	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	Q	513	ENSP00000404382:R513Q;ENSP00000254336:R513Q	ENSP00000254336:R513Q	R	-	2	0	C19orf57	13861131	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.807000	0.01734	-1.928000	0.01059	-2.108000	0.00357	CGA		PASS	0.597	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		7	86	7	86	---	---	---	---
JAK3	3718	broad.mit.edu	37	19	17950440	17950440	+	Silent	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr19:17950440G>A	ENST00000527670.1	-	9	1316	c.1287C>T	c.(1285-1287)ctC>ctT	p.L429L	JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Silent_p.L429L|JAK3_ENST00000458235.1_Silent_p.L429L			P52333	JAK3_HUMAN	Janus kinase 3	429	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.L429L(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGCGCCGGATGAGGCAGCCCT	0.602		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	uc002nhn.3		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			acute megakaryocytic leukemia|		2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						c.(1285-1287)CTC>CTT		Janus kinase 3							25.0	25.0	25.0					19																	17950440		2203	4300	6503	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17950440G>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1287C>T	19.37:g.17950440G>A						JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Silent_p.L429L|JAK3_uc010xpx.1_Silent_p.L429L	p.L429L	NM_000215	NP_000206	P52333	JAK3_HUMAN			10	1387	-			429			SH2; atypical.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.1287C>T	CCDS12366.1																																																																																				PASS	0.602	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		4	23	4	23	---	---	---	---
PSMC4	5704	broad.mit.edu	37	19	40477127	40477127	+	Missense_Mutation	SNP	C	C	G	rs547778812		TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr19:40477127C>G	ENST00000157812.2	+	1	216	c.18C>G	c.(16-18)atC>atG	p.I6M	PSMC4_ENST00000455878.2_Missense_Mutation_p.I6M	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	6					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)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I6M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGATAGGCATCTTGGTGGAGA	0.617																																					Colon(105;1478 1543 4034 6132 38638)	uc002omq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(16-18)ATC>ATG		proteasome 26S ATPase subunit 4 isoform 1							153.0	133.0	139.0					19																	40477127		2203	4300	6503	SO:0001583	missense	5704				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr19:40477127C>G	U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.18C>G	19.37:g.40477127C>G	ENSP00000157812:p.Ile6Met					PSMC4_uc002omr.2_Missense_Mutation_p.I6M	p.I6M	NM_006503	NP_006494	P43686	PRS6B_HUMAN			1	55	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		6					Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	ENST00000157812.2	37	c.18C>G	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802883	0.50315	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.95307	-3.57;-3.67	6.06	-0.256	0.12984	.	0.289012	0.38548	N	0.001659	D	0.90086	0.6903	L	0.43923	1.385	0.30516	N	0.768943	P;P	0.39216	0.571;0.664	B;B	0.42653	0.394;0.115	D	0.85866	0.1413	10	0.87932	D	0	-0.8958	4.6991	0.12818	0.1482:0.4928:0.0:0.3591	.	6;6	P43686-2;P43686	.;PRS6B_HUMAN	M	6	ENSP00000157812:I6M;ENSP00000413869:I6M	ENSP00000157812:I6M	I	+	3	3	PSMC4	45168967	0.765000	0.28485	0.989000	0.46669	0.981000	0.71138	-0.005000	0.12855	0.142000	0.18901	-0.188000	0.12872	ATC		PASS	0.617	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503		11	177	11	177	---	---	---	---
GSK3A	2931	broad.mit.edu	37	19	42738713	42738713	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr19:42738713A>G	ENST00000222330.3	-	5	911	c.784T>C	c.(784-786)Tgc>Cgc	p.C262R	GSK3A_ENST00000398249.4_Missense_Mutation_p.C180R	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.C262R(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CCAAAATCGCAGAGCTTGAGG	0.627																																						uc002otb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(784-786)TGC>CGC		glycogen synthase kinase 3 alpha							86.0	77.0	80.0					19																	42738713		2203	4300	6503	SO:0001583	missense	2931				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	g.chr19:42738713A>G		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.784T>C	19.37:g.42738713A>G	ENSP00000222330:p.Cys262Arg					GSK3A_uc002ota.1_Missense_Mutation_p.C180R|GSK3A_uc002otc.2_RNA	p.C262R	NM_019884	NP_063937	P49840	GSK3A_HUMAN			5	903	-		Prostate(69;0.00682)	262			Protein kinase.		O14959	Missense_Mutation	SNP	ENST00000222330.3	37	c.784T>C	CCDS12599.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.377769	0.61735	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.44482	0.92;0.92	4.84	3.82	0.43975	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057722	0.64402	N	0.000001	T	0.62122	0.2402	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	T	0.63919	-0.6528	10	0.87932	D	0	-6.1324	9.5287	0.39180	0.9146:0.0:0.0854:0.0	.	262;180	P49840;A8MT37	GSK3A_HUMAN;.	R	262;180;207	ENSP00000222330:C262R;ENSP00000381301:C180R	ENSP00000222330:C262R	C	-	1	0	GSK3A	47430553	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.905000	0.75714	0.818000	0.34468	0.402000	0.26972	TGC		PASS	0.627	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1			12	93	12	93	---	---	---	---
SLC17A7	57030	broad.mit.edu	37	19	49933907	49933907	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr19:49933907C>A	ENST00000221485.3	-	12	1723	c.1552G>T	c.(1552-1554)Ggc>Tgc	p.G518C	SLC17A7_ENST00000543531.1_Missense_Mutation_p.G506C|SLC17A7_ENST00000600601.1_Missense_Mutation_p.G451C	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	518					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)	p.G518C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TCGTCACTGCCAGCCAGCTGG	0.637																																						uc002pnp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1552-1554)GGC>TGC		solute carrier family 17, member 7							51.0	43.0	46.0					19																	49933907		2203	4300	6503	SO:0001583	missense	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49933907C>A	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1552G>T	19.37:g.49933907C>A	ENSP00000221485:p.Gly518Cys					SLC17A7_uc002pno.2_Missense_Mutation_p.G180C	p.G518C	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	12	1724	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	518			Cytoplasmic (Potential).		B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	c.1552G>T	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082576	0.76528	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.64438	-0.09;-0.1	4.68	4.68	0.58851	.	0.097699	0.41500	D	0.000872	T	0.57577	0.2063	N	0.19112	0.55	0.40173	D	0.9772	D;D	0.58620	0.983;0.969	P;P	0.52856	0.619;0.711	T	0.62927	-0.6750	10	0.59425	D	0.04	.	13.2923	0.60278	0.0:1.0:0.0:0.0	.	518;360	Q9P2U7;A8K0Q7	VGLU1_HUMAN;.	C	518;506	ENSP00000221485:G518C;ENSP00000441767:G506C	ENSP00000221485:G518C	G	-	1	0	SLC17A7	54625719	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.440000	0.59975	2.614000	0.88457	0.585000	0.79938	GGC		PASS	0.637	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			15	85	15	85	---	---	---	---
CPT1C	126129	broad.mit.edu	37	19	50213726	50213726	+	Silent	SNP	A	A	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr19:50213726A>G	ENST00000392518.4	+	15	2088	c.1716A>G	c.(1714-1716)caA>caG	p.Q572Q	CPT1C_ENST00000598293.1_Silent_p.Q572Q|CPT1C_ENST00000405931.2_Silent_p.Q561Q|CPT1C_ENST00000323446.5_Silent_p.Q572Q|CPT1C_ENST00000354199.5_Silent_p.Q572Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	572					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.Q572Q(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TCGCCTTGCAACTGGCCCACT	0.587																																						uc002ppj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1714-1716)CAA>CAG		carnitine palmitoyltransferase 1C isoform 2							82.0	70.0	74.0					19																	50213726		2203	4300	6503	SO:0001819	synonymous_variant	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50213726A>G	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1716A>G	19.37:g.50213726A>G						CPT1C_uc002ppl.3_Silent_p.Q538Q|CPT1C_uc002ppi.2_Silent_p.Q489Q|CPT1C_uc002ppk.2_Silent_p.Q561Q|CPT1C_uc010eng.2_Silent_p.Q572Q|CPT1C_uc010enh.2_Silent_p.Q572Q|CPT1C_uc010ybc.1_Silent_p.Q443Q|CPT1C_uc010eni.1_Silent_p.Q229Q	p.Q572Q	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	14	1921	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	572			Cytoplasmic (Potential).		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Silent	SNP	ENST00000392518.4	37	c.1716A>G	CCDS12779.1																																																																																				PASS	0.587	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		9	62	9	62	---	---	---	---
SIGLEC9	27180	broad.mit.edu	37	19	51629380	51629380	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr19:51629380G>A	ENST00000250360.3	+	3	810	c.743G>A	c.(742-744)gGc>gAc	p.G248D	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.G248D	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	248	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.G248D(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CAAGGAGACGGCACAGGTAGG	0.597																																						uc002pvu.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(742-744)GGC>GAC		sialic acid binding Ig-like lectin 9 precursor							103.0	91.0	95.0					19																	51629380		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51629380G>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.743G>A	19.37:g.51629380G>A	ENSP00000250360:p.Gly248Asp					SIGLEC9_uc010yct.1_Missense_Mutation_p.G248D	p.G248D	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	3	810	+		all_neural(266;0.0529)	248			Extracellular (Potential).|Ig-like C2-type 2.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.743G>A	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	4.001	-0.002587	0.07819	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.12879	2.64;2.85	3.02	0.761	0.18448	Immunoglobulin-like (1);	1.403790	0.04939	N	0.458363	T	0.14270	0.0345	L	0.52206	1.635	0.09310	N	1	B	0.15141	0.012	B	0.17979	0.02	T	0.37572	-0.9700	10	0.27082	T	0.32	.	6.9504	0.24542	0.287:0.0:0.713:0.0	.	248	Q9Y336	SIGL9_HUMAN	D	248	ENSP00000413861:G248D;ENSP00000250360:G248D	ENSP00000250360:G248D	G	+	2	0	SIGLEC9	56321192	0.000000	0.05858	0.014000	0.15608	0.006000	0.05464	-0.774000	0.04684	-0.257000	0.09459	-1.303000	0.01326	GGC		PASS	0.597	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		5	116	5	116	---	---	---	---
ZNF614	80110	broad.mit.edu	37	19	52521336	52521336	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr19:52521336C>G	ENST00000270649.6	-	4	707	c.163G>C	c.(163-165)Gat>Cat	p.D55H	ZNF614_ENST00000356322.6_Missense_Mutation_p.D55H	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	55	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D55H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GAGAGTACATCTGGTTTGCTA	0.393																																						uc002pyj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5						c.(163-165)GAT>CAT		zinc finger protein 614							157.0	139.0	145.0					19																	52521336		2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52521336C>G	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.163G>C	19.37:g.52521336C>G	ENSP00000270649:p.Asp55His					ZNF614_uc002pyi.3_Missense_Mutation_p.D55H|ZNF614_uc010epj.2_5'UTR	p.D55H	NM_025040	NP_079316	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	4	565	-		all_neural(266;0.0505)	55			KRAB.		Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.163G>C	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865517	0.32977	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	T;T	0.00949	5.51;5.51	2.85	-4.16	0.03869	Krueppel-associated box (3);	.	.	.	.	T	0.02848	0.0085	M	0.66506	2.035	0.09310	N	1	D;D	0.89917	1.0;0.97	D;P	0.73380	0.98;0.735	T	0.14868	-1.0457	9	0.66056	D	0.02	.	4.9433	0.13976	0.0:0.374:0.3162:0.3098	.	55;55	Q8N883;Q9BSN8	ZN614_HUMAN;.	H	55	ENSP00000348674:D55H;ENSP00000270649:D55H	ENSP00000270649:D55H	D	-	1	0	ZNF614	57213148	0.000000	0.05858	0.001000	0.08648	0.590000	0.36582	-0.729000	0.04920	-0.777000	0.04572	0.591000	0.81541	GAT		PASS	0.393	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		11	125	11	125	---	---	---	---
ZNF616	90317	broad.mit.edu	37	19	52619900	52619900	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr19:52619900C>A	ENST00000600228.1	-	4	778	c.517G>T	c.(517-519)Ggt>Tgt	p.G173C	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	173					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)	p.G173C(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ACTAAACAACCATTATTACCT	0.383																																						uc002pym.2																			1	Substitution - Missense(1)		lung(1)		0						c.(517-519)GGT>TGT		zinc finger protein 616							165.0	154.0	158.0					19																	52619900		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619900C>A	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.517G>T	19.37:g.52619900C>A	ENSP00000471000:p.Gly173Cys					ZNF616_uc002pyn.2_RNA	p.G173C	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	800	-			173					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.517G>T	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	5.315	0.243541	0.10077	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.64	-1.6	0.08426	.	.	.	.	.	T	0.26048	0.0635	L	0.31157	0.91	0.09310	N	1	B	0.10296	0.003	B	0.17098	0.017	T	0.27773	-1.0064	8	0.54805	T	0.06	.	3.5944	0.08001	0.0:0.2534:0.3683:0.3782	.	173	Q08AN1	ZN616_HUMAN	C	173	.	ENSP00000328722:G173C	G	-	1	0	ZNF616	57311712	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.263000	0.02850	-0.011000	0.14247	0.305000	0.20034	GGT		PASS	0.383	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		21	190	21	190	---	---	---	---
TGM6	343641	broad.mit.edu	37	20	2398026	2398026	+	Silent	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr20:2398026C>T	ENST00000202625.2	+	10	1546	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	TGM6_ENST00000381423.1_Silent_p.I495I	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	495					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.I495I(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGCCCAGCATCGCTGGCAAGT	0.662																																						uc002wfy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1483-1485)ATC>ATT		transglutaminase 6	L-Glutamine(DB00130)						43.0	38.0	40.0					20																	2398026		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2398026C>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1485C>T	20.37:g.2398026C>T						TGM6_uc010gal.1_Silent_p.I495I	p.I495I	NM_198994	NP_945345	O95932	TGM3L_HUMAN			10	1546	+			495					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.1485C>T	CCDS13025.1																																																																																				PASS	0.662	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		5	60	5	60	---	---	---	---
ADRA1D	146	broad.mit.edu	37	20	4229246	4229246	+	Nonsense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr20:4229246G>C	ENST00000379453.4	-	1	475	c.359C>G	c.(358-360)tCa>tGa	p.S120*		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	120					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.S120*(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GCAGGCCACTGAGAGGATGAC	0.642																																						uc002wkr.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(358-360)TCA>TGA		alpha-1D-adrenergic receptor	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						46.0	49.0	48.0					20																	4229246		2203	4300	6503	SO:0001587	stop_gained	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4229246G>C	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.359C>G	20.37:g.4229246G>C	ENSP00000368766:p.Ser120*						p.S120*	NM_000678	NP_000669	P25100	ADA1D_HUMAN			1	414	-			120			Helical; Name=1; (By similarity).		Q9NPY0	Nonsense_Mutation	SNP	ENST00000379453.4	37	c.359C>G	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	G	37	6.065941	0.97251	.	.	ENSG00000171873	ENST00000379453	.	.	.	4.38	4.38	0.52667	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.5216	0.67853	0.0:0.0:1.0:0.0	.	.	.	.	X	120	.	ENSP00000368766:S120X	S	-	2	0	ADRA1D	4177246	1.000000	0.71417	0.999000	0.59377	0.558000	0.35554	7.733000	0.84916	2.279000	0.76181	0.558000	0.71614	TCA		PASS	0.642	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678		3	26	3	26	---	---	---	---
PHF20	51230	broad.mit.edu	37	20	34535534	34535534	+	Silent	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr20:34535534C>T	ENST00000374012.3	+	18	3153	c.3024C>T	c.(3022-3024)ctC>ctT	p.L1008L	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	1008					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L1008L(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AGATCGCCCTCTGCTGCTCAA	0.557																																						uc002xek.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3022-3024)CTC>CTT		PHD finger protein 20							44.0	41.0	42.0					20																	34535534		2203	4300	6503	SO:0001819	synonymous_variant	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34535534C>T	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.3024C>T	20.37:g.34535534C>T							p.L1008L	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			18	3135	+	Breast(12;0.00631)|all_lung(11;0.0145)		1008					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Silent	SNP	ENST00000374012.3	37	c.3024C>T	CCDS13268.1																																																																																				PASS	0.557	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		13	67	13	67	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47258974	47258974	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr20:47258974G>A	ENST00000371941.3	-	28	3677	c.3655C>T	c.(3655-3657)Cat>Tat	p.H1219Y	PREX1_ENST00000496915.1_5'UTR|PREX1_ENST00000396220.1_Missense_Mutation_p.H1219Y	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1219					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H1219Y(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGGCAGCCATGAAGCTTGTCC	0.592																																						uc002xtw.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(3655-3657)CAT>TAT		phosphatidylinositol-3,4,							76.0	71.0	73.0					20																	47258974		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47258974G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3655C>T	20.37:g.47258974G>A	ENSP00000361009:p.His1219Tyr					PREX1_uc002xtv.1_Missense_Mutation_p.H516Y	p.H1219Y	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		28	3678	-			1219					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.3655C>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	g	27.5	4.838628	0.91117	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.39787	1.06;1.06	5.11	5.11	0.69529	.	0.215296	0.30695	U	0.009077	T	0.62490	0.2432	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.65815	0.995;0.992	P;P	0.60173	0.861;0.87	T	0.66826	-0.5825	10	0.87932	D	0	.	18.9844	0.92764	0.0:0.0:1.0:0.0	.	1219;516	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	Y	1219	ENSP00000361009:H1219Y;ENSP00000379522:H1219Y	ENSP00000361009:H1219Y	H	-	1	0	PREX1	46692381	1.000000	0.71417	0.992000	0.48379	0.972000	0.66771	9.279000	0.95777	2.543000	0.85770	0.645000	0.84053	CAT		PASS	0.592	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		13	45	13	45	---	---	---	---
CBLN4	140689	broad.mit.edu	37	20	54573773	54573773	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr20:54573773G>A	ENST00000064571.2	-	3	1746	c.446C>T	c.(445-447)gCc>gTc	p.A149V		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	149	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.A149V(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CCCCGCAAAGGCAGATATTAC	0.373																																						uc002xxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(445-447)GCC>GTC		cerebellin 4 precursor							77.0	72.0	74.0					20																	54573773		2203	4300	6503	SO:0001583	missense	140689					cell junction|extracellular region|synapse		g.chr20:54573773G>A	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.446C>T	20.37:g.54573773G>A	ENSP00000064571:p.Ala149Val						p.A149V	NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		3	1231	-			149			C1q.		A8K0S5	Missense_Mutation	SNP	ENST00000064571.2	37	c.446C>T	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765863	0.90020	.	.	ENSG00000054803	ENST00000064571	T	0.73258	-0.73	5.62	5.62	0.85841	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.78842	0.4347	L	0.38531	1.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75045	-0.3456	10	0.30078	T	0.28	-20.0539	19.6506	0.95805	0.0:0.0:1.0:0.0	.	149	Q9NTU7	CBLN4_HUMAN	V	149	ENSP00000064571:A149V	ENSP00000064571:A149V	A	-	2	0	CBLN4	54007180	1.000000	0.71417	0.999000	0.59377	0.930000	0.56654	9.799000	0.99117	2.640000	0.89533	0.591000	0.81541	GCC		PASS	0.373	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		13	93	13	93	---	---	---	---
TAF4	6874	broad.mit.edu	37	20	60574149	60574149	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr20:60574149C>G	ENST00000252996.4	-	12	2802	c.2803G>C	c.(2803-2805)Gag>Cag	p.E935Q		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	935					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|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)|transcription coactivator activity (GO:0003713)	p.E935Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CTCGCCTGCTCATATCTGTCG	0.483																																						uc002ybs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2803-2805)GAG>CAG		TBP-associated factor 4							278.0	292.0	287.0					20																	60574149		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|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 TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60574149C>G	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2803G>C	20.37:g.60574149C>G	ENSP00000252996:p.Glu935Gln						p.E935Q	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		12	2803	-	Breast(26;1e-08)		935					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2803G>C	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354334	0.82243	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.27720	1.66;1.65	5.39	5.39	0.77823	Transcription initiation factor TFIID component TAF4 (1);	0.000000	0.85682	D	0.000000	T	0.56485	0.1988	M	0.78456	2.415	0.80722	D	1	D	0.69078	0.997	D	0.67382	0.951	T	0.52631	-0.8550	10	0.28530	T	0.3	-25.1375	19.1007	0.93272	0.0:1.0:0.0:0.0	.	935	O00268	TAF4_HUMAN	Q	935;799	ENSP00000252996:E935Q;ENSP00000399091:E799Q	ENSP00000252996:E935Q	E	-	1	0	TAF4	60007544	1.000000	0.71417	0.990000	0.47175	0.783000	0.44284	7.259000	0.78381	2.528000	0.85240	0.491000	0.48974	GAG		PASS	0.483	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		41	597	41	597	---	---	---	---
MORC3	23515	broad.mit.edu	37	21	37711192	37711192	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr21:37711192C>T	ENST00000400485.1	+	5	657	c.581C>T	c.(580-582)aCg>aTg	p.T194M	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	194					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)	p.T194M(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AAGAAGGGGACGAGGATCATC	0.438																																						uc002yvi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(580-582)ACG>ATG		MORC family CW-type zinc finger 3							190.0	169.0	176.0					21																	37711192		1967	4153	6120	SO:0001583	missense	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37711192C>T	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.581C>T	21.37:g.37711192C>T	ENSP00000383333:p.Thr194Met						p.T194M	NM_015358	NP_056173	Q14149	MORC3_HUMAN			5	657	+			194					A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.581C>T	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.618900	0.87460	.	.	ENSG00000159256	ENST00000400485	D	0.82984	-1.67	5.79	4.9	0.64082	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.92596	0.7648	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93914	0.7199	9	.	.	.	-16.5996	14.6172	0.68558	0.0:0.9293:0.0:0.0707	.	194	Q14149	MORC3_HUMAN	M	194	ENSP00000383333:T194M	.	T	+	2	0	MORC3	36633062	1.000000	0.71417	0.932000	0.37286	0.834000	0.47266	7.663000	0.83820	1.442000	0.47568	0.591000	0.81541	ACG		PASS	0.438	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		5	273	5	273	---	---	---	---
KRTAP10-7	386675	broad.mit.edu	37	21	46021273	46021273	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr21:46021273A>T	ENST00000380102.2	+	1	777	c.752A>T	c.(751-753)gAt>gTt	p.D251V	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	251	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						TGCTCTGATGATTCCGGTTCA	0.647																																						uc002zfn.3																			0					0						c.(736-738)GAT>GTT		keratin associated protein 10-7							153.0	152.0	152.0					21																	46021273		2203	4300	6503	SO:0001583	missense	386675					keratin filament		g.chr21:46021273A>T	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.752A>T	21.37:g.46021273A>T	ENSP00000369445:p.Asp251Val					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.D246V	NM_198689	NP_941962	P60409	KR107_HUMAN			2	762	+			251			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37	c.737A>T		.	.	.	.	.	.	.	.	.	.	a	0.318	-0.963694	0.02249	.	.	ENSG00000205441	ENST00000380102	T	0.00649	5.98	2.54	-5.08	0.02929	.	.	.	.	.	T	0.00328	0.0010	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.44390	-0.9331	9	0.14252	T	0.57	.	0.7176	0.00935	0.3805:0.2735:0.1895:0.1564	.	246	P60409-2	.	V	251	ENSP00000369445:D251V	ENSP00000369445:D251V	D	+	2	0	KRTAP10-7	44845701	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.363000	0.07593	-0.328000	0.08539	0.155000	0.16302	GAT		PASS	0.647	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		14	233	14	233	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47754334	47754334	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr21:47754334G>C	ENST00000359568.5	+	3	398	c.291G>C	c.(289-291)aaG>aaC	p.K97N	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	97					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)		p.K97N(1)		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)					ATGGAGAGAAGAGAGAGGACT	0.542																																						uc002zji.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(289-291)AAG>AAC		pericentrin							116.0	98.0	104.0					21																	47754334		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754334G>C	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.291G>C	21.37:g.47754334G>C	ENSP00000352572:p.Lys97Asn					PCNT_uc002zjj.2_5'UTR|PCNT_uc010gqk.1_RNA	p.K97N	NM_006031	NP_006022	O95613	PCNT_HUMAN			3	398	+	Breast(49;0.112)		97					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.291G>C	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	1.867	-0.461207	0.04508	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01516	4.81	1.35	0.383	0.16239	.	.	.	.	.	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	B	0.24963	0.115	B	0.10450	0.005	T	0.48163	-0.9059	9	0.42905	T	0.14	.	4.5883	0.12294	0.0:0.0:0.6251:0.3749	.	97	O95613	PCNT_HUMAN	N	97	ENSP00000352572:K97N	ENSP00000338675:K97N	K	+	3	2	PCNT	46578762	0.006000	0.16342	0.008000	0.14137	0.048000	0.14542	0.305000	0.19254	0.125000	0.18397	0.460000	0.39030	AAG		PASS	0.542	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		7	143	7	143	---	---	---	---
IGLV2-14	28815	broad.mit.edu	37	22	23101419	23101419	+	RNA	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr22:23101419C>T	ENST00000390312.2	+	0	114				D87015.1_ENST00000385100.1_RNA					immunoglobulin lambda variable 2-14																		TGCCCTGACTCAGCCTGCCTC	0.592																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							89.0	93.0	92.0					22																	23101419		2038	4190	6228			96610							g.chr22:23101419C>T	Z73664		22q11.2	2012-02-08			ENSG00000211666	ENSG00000211666		"""Immunoglobulins / IGL locus"""	5888	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151235		22.37:g.23101419C>T														210		+									RNA	SNP	ENST00000390312.2	37	c.10848C>T																																																																																					PASS	0.592	IGLV2-14-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321840.1	NG_000002		19	209	19	209	---	---	---	---
PATZ1	23598	broad.mit.edu	37	22	31740795	31740795	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr22:31740795C>T	ENST00000266269.5	-	1	1423	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	PATZ1_ENST00000405309.3_Missense_Mutation_p.R265Q|PATZ1_ENST00000351933.4_Missense_Mutation_p.R265Q|AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000215919.3_Missense_Mutation_p.R265Q	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	265					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R265Q(2)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GCCCCGGCCTCGCTTGCCAGT	0.652																																						uc003akq.2																		EWSR1/PATZ1(2)	2	Substitution - Missense(2)		lung(2)	soft_tissue(2)	2						c.(793-795)CGA>CAA		POZ (BTB) and AT hook containing zinc finger 1							17.0	17.0	17.0					22																	31740795		2200	4296	6496	SO:0001583	missense	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31740795C>T	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.794G>A	22.37:g.31740795C>T	ENSP00000266269:p.Arg265Gln					PATZ1_uc003akp.2_Missense_Mutation_p.R265Q|PATZ1_uc003akr.2_Missense_Mutation_p.R265Q|PATZ1_uc003aks.2_Missense_Mutation_p.R265Q|uc003akt.2_5'Flank	p.R265Q	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN			1	1455	-			265			A.T hook.		Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	c.794G>A	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103306	0.76983	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.10382	2.91;2.88;2.93;3.06	4.78	3.73	0.42828	HMG-I/HMG-Y, DNA-binding, conserved site (1);AT hook, DNA-binding motif (1);	0.284830	0.27122	N	0.020821	T	0.19685	0.0473	L	0.27053	0.805	0.58432	D	0.999997	D;P;D;P	0.76494	0.988;0.953;0.999;0.953	B;B;D;B	0.72625	0.387;0.199;0.978;0.199	T	0.01330	-1.1383	10	0.62326	D	0.03	-2.5998	13.0739	0.59077	0.1619:0.8381:0.0:0.0	.	265;265;265;265	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	Q	265	ENSP00000266269:R265Q;ENSP00000384173:R265Q;ENSP00000337520:R265Q;ENSP00000215919:R265Q	ENSP00000215919:R265Q	R	-	2	0	PATZ1	30070795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.404000	0.59735	0.957000	0.37930	0.561000	0.74099	CGA		PASS	0.652	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		7	31	7	31	---	---	---	---
ARHGAP6	395	broad.mit.edu	37	X	11204422	11204422	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chrX:11204422G>C	ENST00000337414.4	-	5	2079	c.1207C>G	c.(1207-1209)Ctg>Gtg	p.L403V	ARHGAP6_ENST00000413512.3_Missense_Mutation_p.L212V|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.L228V|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.L435V|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.L200V|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.L200V|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.L403V	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	403	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.L403V(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ATAGGATTCAGACTGAGTTTC	0.428																																						uc004cup.1																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|lung(1)	2						c.(1207-1209)CTG>GTG		Rho GTPase activating protein 6 isoform 1							162.0	140.0	147.0					X																	11204422		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11204422G>C	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1207C>G	X.37:g.11204422G>C	ENSP00000338967:p.Leu403Val					ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.L403V|ARHGAP6_uc004cum.1_Missense_Mutation_p.L200V|ARHGAP6_uc004cun.1_Missense_Mutation_p.L223V|ARHGAP6_uc010neb.1_Missense_Mutation_p.L225V|ARHGAP6_uc011mif.1_Missense_Mutation_p.L200V	p.L403V	NM_013427	NP_038286	O43182	RHG06_HUMAN			5	2080	-			403			Rho-GAP.		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.1207C>G	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092515	0.76756	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.27720	1.72;1.65;1.65;1.69;1.72;1.68;1.78;1.83	5.51	5.51	0.81932	Rho GTPase-activating protein domain (1);	0.000000	0.42420	D	0.000710	T	0.51058	0.1652	L	0.52126	1.63	0.80722	D	1	D;D;D;P;D	0.76494	0.998;0.973;0.998;0.878;0.999	P;P;D;P;D	0.71656	0.817;0.701;0.963;0.722;0.974	T	0.46665	-0.9175	10	0.48119	T	0.1	.	18.5172	0.90939	0.0:0.0:1.0:0.0	.	212;200;403;403;403	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	V	228;200;200;403;239;403;212;435	ENSP00000438135:L228V;ENSP00000370112:L200V;ENSP00000302312:L200V;ENSP00000338967:L403V;ENSP00000370093:L239V;ENSP00000370094:L403V;ENSP00000389394:L212V;ENSP00000370108:L435V	ENSP00000302312:L200V	L	-	1	2	ARHGAP6	11114343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.359000	0.79477	2.315000	0.78130	0.600000	0.82982	CTG		PASS	0.428	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		32	154	32	154	---	---	---	---
TLR8	51311	broad.mit.edu	37	X	12939453	12939453	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chrX:12939453C>A	ENST00000218032.6	+	2	2381	c.2294C>A	c.(2293-2295)tCt>tAt	p.S765Y	TLR8_ENST00000311912.5_Missense_Mutation_p.S783Y	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	765					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.S783Y(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	ACCAAATTATCTATGTTGGAA	0.408																																						uc004cve.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|large_intestine(1)	7						c.(2293-2295)TCT>TAT		toll-like receptor 8 precursor							96.0	85.0	89.0					X																	12939453		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12939453C>A	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2294C>A	X.37:g.12939453C>A	ENSP00000218032:p.Ser765Tyr					TLR8_uc004cvd.2_Missense_Mutation_p.S783Y	p.S765Y	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	2362	+			765			Extracellular (Potential).		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.2294C>A	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	C	3.926	-0.017225	0.07681	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.58358	0.34;0.34	5.82	2.71	0.32032	.	1.847040	0.03141	N	0.166636	T	0.61248	0.2332	N	0.25485	0.75	0.09310	N	1	D;D	0.62365	0.991;0.991	P;P	0.57620	0.824;0.824	T	0.58983	-0.7539	10	0.66056	D	0.02	.	14.7007	0.69154	0.2551:0.6636:0.0813:0.0	.	765;783	Q9NR97;D1CS70	TLR8_HUMAN;.	Y	765;783	ENSP00000218032:S765Y;ENSP00000312082:S783Y	ENSP00000218032:S765Y	S	+	2	0	TLR8	12849374	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.491000	0.06474	0.210000	0.20664	-0.903000	0.02851	TCT		PASS	0.408	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		9	78	9	78	---	---	---	---
DCAF8L1	139425	broad.mit.edu	37	X	27998327	27998327	+	Silent	SNP	T	T	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chrX:27998327T>A	ENST00000441525.1	-	1	1239	c.1125A>T	c.(1123-1125)gtA>gtT	p.V375V		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	375								p.V375V(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ATTTCTTGAGTACTCCATTGT	0.423																																						uc004dbx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1123-1125)GTA>GTT		DDB1 and CUL4 associated factor 8-like 1							103.0	89.0	94.0					X																	27998327		2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27998327T>A		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1125A>T	X.37:g.27998327T>A							p.V375V	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	1240	-			375					B3KXX1	Silent	SNP	ENST00000441525.1	37	c.1125A>T	CCDS35222.1																																																																																				PASS	0.423	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		15	46	15	46	---	---	---	---
DCAF8L1	139425	broad.mit.edu	37	X	27998340	27998340	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chrX:27998340T>C	ENST00000441525.1	-	1	1226	c.1112A>G	c.(1111-1113)gAa>gGa	p.E371G		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	371								p.E371G(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TCCATTGTTTTCTTTCTTATC	0.393																																						uc004dbx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1111-1113)GAA>GGA		DDB1 and CUL4 associated factor 8-like 1							98.0	85.0	89.0					X																	27998340		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998340T>C		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1112A>G	X.37:g.27998340T>C	ENSP00000405222:p.Glu371Gly						p.E371G	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	1227	-			371			WD 4.		B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.1112A>G	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	T	11.80	1.746639	0.30955	.	.	ENSG00000226372	ENST00000441525	T	0.67345	-0.26	0.842	-1.08	0.09936	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.227201	0.36268	N	0.002685	T	0.38799	0.1054	N	0.12502	0.225	0.22317	N	0.999202	B	0.21147	0.052	B	0.20184	0.028	T	0.13098	-1.0522	9	0.27082	T	0.32	-2.874	.	.	.	.	371	A6NGE4	DC8L1_HUMAN	G	371	ENSP00000405222:E371G	ENSP00000405222:E371G	E	-	2	0	DCAF8L1	27908261	0.993000	0.37304	0.001000	0.08648	0.027000	0.11550	1.512000	0.35812	-0.367000	0.08052	0.235000	0.17854	GAA		PASS	0.393	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		10	47	10	47	---	---	---	---
ZMAT1	84460	broad.mit.edu	37	X	101139090	101139090	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chrX:101139090G>T	ENST00000372782.3	-	7	1356	c.1309C>A	c.(1309-1311)Cat>Aat	p.H437N	ZMAT1_ENST00000458570.1_Missense_Mutation_p.H266N|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.H437N	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	437						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H266N(1)|p.H437N(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						AACATTCTATGTCTGGGTCTG	0.418																																						uc004eim.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(796-798)CAT>AAT		zinc finger, matrin type 1 isoform 3							209.0	196.0	200.0					X																	101139090		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101139090G>T	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1309C>A	X.37:g.101139090G>T	ENSP00000361868:p.His437Asn					ZMAT1_uc011mrl.1_Missense_Mutation_p.H437N|ZMAT1_uc004ein.2_Missense_Mutation_p.H266N|ZMAT1_uc011mrm.1_Missense_Mutation_p.H266N	p.H266N	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN			2	4294	-			266					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.796C>A	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.328091	0.01309	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.22336	2.51;2.51;1.96	4.59	0.806	0.18708	.	0.905417	0.09612	N	0.778806	T	0.17831	0.0428	M	0.69823	2.125	0.09310	N	1	P	0.42827	0.791	B	0.32677	0.15	T	0.20438	-1.0275	10	0.52906	T	0.07	-0.0255	3.6794	0.08305	0.3244:0.1844:0.4912:0.0	.	437	Q5H9K5	ZMAT1_HUMAN	N	437;437;266	ENSP00000361868:H437N;ENSP00000437529:H437N;ENSP00000413044:H266N	ENSP00000361868:H437N	H	-	1	0	ZMAT1	101025746	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.279000	0.08479	0.005000	0.14708	0.600000	0.82982	CAT		PASS	0.418	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			123	201	123	201	---	---	---	---
GPRASP1	9737	broad.mit.edu	37	X	101911775	101911775	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chrX:101911775G>T	ENST00000361600.5	+	5	3735	c.2934G>T	c.(2932-2934)gaG>gaT	p.E978D	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Missense_Mutation_p.E978D|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E978D|GPRASP1_ENST00000415986.1_Missense_Mutation_p.E978D	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	978	Glu-rich.|OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.E978D(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTGAAGATGAGGTAGATAACA	0.507																																						uc004ejj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2932-2934)GAG>GAT		G protein-coupled receptor associated sorting							150.0	130.0	137.0					X																	101911775		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101911775G>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2934G>T	X.37:g.101911775G>T	ENSP00000355146:p.Glu978Asp					GPRASP1_uc004eji.3_Missense_Mutation_p.E978D|GPRASP1_uc010nod.2_Missense_Mutation_p.E978D	p.E978D	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	3735	+			978			Glu-rich.|OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.2934G>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.283797	0.23392	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	2.51	1.63	0.23807	.	.	.	.	.	T	0.22666	0.0547	M	0.61703	1.905	0.09310	N	1	P	0.52463	0.953	D	0.65443	0.935	T	0.07751	-1.0756	9	0.51188	T	0.08	-4.7235	4.1255	0.10125	0.3617:0.0:0.6383:0.0	.	978	Q5JY77	GASP1_HUMAN	D	978	ENSP00000393691:E978D;ENSP00000409420:E978D;ENSP00000355146:E978D;ENSP00000445683:E978D	ENSP00000355146:E978D	E	+	3	2	GPRASP1	101798431	0.018000	0.18449	0.085000	0.20634	0.138000	0.21146	0.459000	0.21908	0.489000	0.27749	0.429000	0.28392	GAG		PASS	0.507	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		42	71	42	71	---	---	---	---
USP26	83844	broad.mit.edu	37	X	132161299	132161299	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chrX:132161299G>T	ENST00000511190.1	-	6	1419	c.950C>A	c.(949-951)cCa>cAa	p.P317Q	USP26_ENST00000406273.1_Missense_Mutation_p.P317Q|USP26_ENST00000370832.1_Missense_Mutation_p.P317Q	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	317	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.P317Q(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AGCAAACGATGGGATTGAAAG	0.383																																					NSCLC(104;342 1621 36940 47097 52632)	uc010nrm.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8						c.(949-951)CCA>CAA		ubiquitin-specific protease 26							32.0	34.0	33.0					X																	132161299		2189	4258	6447	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132161299G>T	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.950C>A	X.37:g.132161299G>T	ENSP00000423390:p.Pro317Gln					USP26_uc011mvf.1_Missense_Mutation_p.P317Q	p.P317Q	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			6	1420	-	Acute lymphoblastic leukemia(192;0.000127)		317					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.950C>A	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	G	9.428	1.084839	0.20309	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.34667	1.35;1.35;1.35	3.87	3.0	0.34707	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.344590	0.17669	N	0.166051	T	0.43322	0.1242	L	0.50993	1.605	0.24216	N	0.995453	D	0.71674	0.998	D	0.67382	0.951	T	0.21177	-1.0253	10	0.22109	T	0.4	-2.4469	3.9669	0.09436	0.1259:0.0:0.6391:0.235	.	317	Q9BXU7	UBP26_HUMAN	Q	317	ENSP00000359869:P317Q;ENSP00000423390:P317Q;ENSP00000384360:P317Q	ENSP00000359869:P317Q	P	-	2	0	USP26	131988965	1.000000	0.71417	0.007000	0.13788	0.118000	0.20060	3.717000	0.54911	0.993000	0.38866	0.468000	0.43344	CCA		PASS	0.383	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		19	61	19	61	---	---	---	---
GABRQ	55879	broad.mit.edu	37	X	151815469	151815469	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chrX:151815469G>A	ENST00000370306.2	+	4	387	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	123					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.E123K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGCATACTATGAGACCACCCT	0.448																																						uc004ffp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(367-369)GAG>AAG		gamma-aminobutyric acid (GABA) receptor, theta							283.0	209.0	234.0					X																	151815469		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151815469G>A	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.367G>A	X.37:g.151815469G>A	ENSP00000359329:p.Glu123Lys						p.E123K	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			4	387	+	Acute lymphoblastic leukemia(192;6.56e-05)		123			Extracellular (Potential).		A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.367G>A	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085575	0.55861	.	.	ENSG00000147402	ENST00000370306	T	0.79033	-1.23	5.42	5.42	0.78866	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.43416	D	0.000566	T	0.81631	0.4863	L	0.33245	0.995	0.09310	N	0.999995	D	0.69078	0.997	D	0.69142	0.962	T	0.74731	-0.3566	10	0.44086	T	0.13	.	15.4861	0.75569	0.0:0.0:1.0:0.0	.	123	Q9UN88	GBRT_HUMAN	K	123	ENSP00000359329:E123K	ENSP00000359329:E123K	E	+	1	0	GABRQ	151566125	1.000000	0.71417	0.915000	0.36163	0.563000	0.35712	8.018000	0.88722	2.251000	0.74343	0.544000	0.68410	GAG		PASS	0.448	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		23	118	23	118	---	---	---	---
NLGN4Y	22829	broad.mit.edu	37	Y	16952691	16952691	+	3'UTR	SNP	C	C	A			TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chrY:16952691C>A	ENST00000476359.1	+	0	2545							Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked						learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.T667N(1)		large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CTCATTGAAACCAAACGAGAT	0.512																																						uc004ftg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1999-2001)ACC>AAC		neuroligin 4, Y-linked isoform 1																																				SO:0001624	3_prime_UTR_variant	22829				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrY:16952691C>A		CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"""neuroligin 4, Y linked"""			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000476359.1:c.*2542C>A	Y.37:g.16952691C>A						NLGN4Y_uc004fte.2_Missense_Mutation_p.T499N|NLGN4Y_uc011nas.1_Missense_Mutation_p.T687N|NLGN4Y_uc004ftf.2_Missense_Mutation_p.T360N|NLGN4Y_uc004fth.2_Missense_Mutation_p.T667N	p.T667N	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN			6	2252	+			667			Extracellular (Potential).		F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Missense_Mutation	SNP	ENST00000476359.1	37	c.2000C>A																																																																																					PASS	0.512	NLGN4Y-004	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000089064.2	NM_014893		4	108	4	108	---	---	---	---
Unknown	0	broad.mit.edu	37	14	106919168	106919168	+	IGR	DEL	C	C	-	rs139643696	byFrequency	TCGA-39-5028-01A-01D-1441-08	TCGA-39-5028-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	015b9329-ecf2-4410-b7b6-f9313b5d2adb	605b9db5-8a6c-4175-9fb0-dec971780136	g.chr14:106919168delC								IGHV4-39 (41042 upstream) : IGHV3-43 (7019 downstream)																							ACGTTAACCTCCCCCTCACTG	0.557													CCCC|CCCCC|CCCC|insertion	1476	0.294728	0.4289	0.2233	5008	,	,		15151	0.1548		0.2644	False		,,,				2504	0.3395					uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.																																				SO:0001628	intergenic_variant	8755							g.chr14:106919168delC																													14.37:g.106919168delC						uc010tyu.1_Intron								245		-									RNA	DEL		37	c.10611delG																																																																																				0		0.557									3	3	3	3	---	---	---	---
