#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
VPS13D	55187	broad.mit.edu	37	1	12463963	12463963	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:12463963A>T	ENST00000358136.3	+	63	12097	c.11967A>T	c.(11965-11967)aaA>aaT	p.K3989N	VPS13D_ENST00000356315.4_Missense_Mutation_p.K3964N|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.K3989N(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAAATCTCAAAATCAGCATTC	0.388																																						uc001atv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(11965-11967)AAA>AAT		vacuolar protein sorting 13D isoform 1							129.0	117.0	121.0					1																	12463963		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12463963A>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11967A>T	1.37:g.12463963A>T	ENSP00000350854:p.Lys3989Asn					VPS13D_uc001atw.2_Missense_Mutation_p.K3964N|VPS13D_uc001atx.2_Missense_Mutation_p.K3176N|VPS13D_uc009vnl.2_RNA	p.K3989N	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	63	12108	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3988						Missense_Mutation	SNP	ENST00000358136.3	37	c.11967A>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.7|23.7	4.441989|4.441989	0.83993|0.83993	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	T|T;T	0.42513|0.53206	0.97|0.63;0.63	6.17|6.17	1.49|1.49	0.22878|0.22878	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.37679|0.37679	0.1012|0.1012	N|N	0.21240|0.21240	0.645|0.645	0.80722|0.80722	D|D	1|1	.|P;P	.|0.42357	.|0.589;0.777	.|P;P	.|0.47102	.|0.537;0.488	T|T	0.06770|0.06770	-1.0808|-1.0808	8|10	0.45353|0.39692	T|T	0.12|0.17	.|.	9.5124|9.5124	0.39085|0.39085	0.5366:0.0:0.4634:0.0|0.5366:0.0:0.4634:0.0	.|.	.|3964;3988	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	I|N	2811|3964;3989	ENSP00000011700:K2811I|ENSP00000348666:K3964N;ENSP00000350854:K3989N	ENSP00000011700:K2811I|ENSP00000348666:K3964N	K|K	+|+	2|3	0|2	VPS13D|VPS13D	12386550|12386550	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.984000|0.984000	0.73092|0.73092	2.384000|2.384000	0.44362|0.44362	0.019000|0.019000	0.15079|0.15079	0.533000|0.533000	0.62120|0.62120	AAA|AAA		PASS	0.388	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		46	24	46	24	---	---	---	---
PADI3	51702	broad.mit.edu	37	1	17603149	17603149	+	Silent	SNP	C	C	G	rs201961308		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:17603149C>G	ENST00000375460.3	+	12	1483	c.1443C>G	c.(1441-1443)ccC>ccG	p.P481P	MIR3972_ENST00000582732.1_RNA	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	481					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.P481P(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCCCTGCCCCCGATGGGAAGG	0.597																																						uc001bai.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1441-1443)CCC>CCG		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						127.0	110.0	116.0					1																	17603149		2203	4300	6503	SO:0001819	synonymous_variant	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17603149C>G	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1443C>G	1.37:g.17603149C>G							p.P481P	NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	12	1483	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	481					Q58EY7|Q70SX5	Silent	SNP	ENST00000375460.3	37	c.1443C>G	CCDS179.1																																																																																				PASS	0.597	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			59	22	59	22	---	---	---	---
USP48	84196	broad.mit.edu	37	1	22079070	22079070	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:22079070C>T	ENST00000308271.9	-	5	1263	c.615G>A	c.(613-615)gtG>gtA	p.V205V	USP48_ENST00000529637.1_Silent_p.V205V|USP48_ENST00000400301.1_Silent_p.V205V|USP48_ENST00000421625.2_Silent_p.V205V	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	205	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.V205V(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CAATATTGCGCACATCTGGAT	0.338																																						uc001bfb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(613-615)GTG>GTA		ubiquitin specific protease 48 isoform a							108.0	101.0	103.0					1																	22079070		2203	4300	6503	SO:0001819	synonymous_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22079070C>T	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.615G>A	1.37:g.22079070C>T						USP48_uc010odq.1_Silent_p.V205V|USP48_uc009vqc.2_Silent_p.V205V|USP48_uc001bfc.2_Silent_p.V205V|USP48_uc001bfe.1_Silent_p.V205V|USP48_uc001bff.2_Silent_p.V205V	p.V205V	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	5	853	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	205					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	37	c.615G>A	CCDS30623.1																																																																																				PASS	0.338	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		25	12	25	12	---	---	---	---
CELA3A	10136	broad.mit.edu	37	1	22329556	22329556	+	Missense_Mutation	SNP	C	C	T	rs550611930		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:22329556C>T	ENST00000290122.3	+	2	123	c.104C>T	c.(103-105)gCg>gTg	p.A35V	CELA3A_ENST00000374663.1_Missense_Mutation_p.A35V|RN7SL768P_ENST00000584415.1_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	35	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)	p.A35V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGTGAGGATGCGGTCCCCTAC	0.612																																						uc001bfl.2																			1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(103-105)GCG>GTG		elastase 3A, pancreatic preproprotein							61.0	90.0	81.0					1																	22329556		2140	4289	6429	SO:0001583	missense	10136				cholesterol metabolic process|digestion|proteolysis		serine-type endopeptidase activity	g.chr1:22329556C>T	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.104C>T	1.37:g.22329556C>T	ENSP00000290122:p.Ala35Val					CELA3B_uc009vqf.2_Intron	p.A35V	NM_005747	NP_005738	P09093	CEL3A_HUMAN			2	123	+			35			Peptidase S1.		B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	c.104C>T	CCDS220.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.689677	0.68271	.	.	ENSG00000142789	ENST00000290122;ENST00000374663;ENST00000374661	T;D	0.94417	2.07;-3.42	3.47	2.54	0.30619	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.92639	0.7661	L	0.48260	1.515	0.43756	D	0.996263	D	0.71674	0.998	P	0.52627	0.704	D	0.89403	0.3697	9	0.39692	T	0.17	-25.4813	6.7714	0.23596	0.0:0.8655:0.0:0.1345	.	35	P09093	CEL3A_HUMAN	V	35;35;51	ENSP00000290122:A35V;ENSP00000363795:A35V	ENSP00000290122:A35V	A	+	2	0	CELA3A	22202143	0.996000	0.38824	0.042000	0.18584	0.880000	0.50808	3.389000	0.52516	0.781000	0.33589	0.400000	0.26472	GCG		PASS	0.612	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		4	96	4	96	---	---	---	---
MAN1C1	57134	broad.mit.edu	37	1	25944443	25944443	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:25944443T>A	ENST00000374332.4	+	1	485	c.155T>A	c.(154-156)cTc>cAc	p.L52H	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	52					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.L52H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CTCAAGCGCCTCTTCCTGGCC	0.697																																						uc001bkm.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(154-156)CTC>CAC		mannosidase, alpha, class 1C, member 1							24.0	28.0	27.0					1																	25944443		2197	4292	6489	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:25944443T>A	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.155T>A	1.37:g.25944443T>A	ENSP00000363452:p.Leu52His					MAN1C1_uc009vry.1_5'UTR	p.L52H	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	1	485	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	52			Lumenal (Potential).		A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.155T>A	CCDS265.1	.	.	.	.	.	.	.	.	.	.	t	23.2	4.383833	0.82792	.	.	ENSG00000117643	ENST00000374332	D	0.84660	-1.88	3.97	3.97	0.46021	.	0.561196	0.14436	N	0.319724	T	0.79516	0.4459	N	0.19112	0.55	0.80722	D	1	D	0.56287	0.975	P	0.49708	0.62	T	0.77696	-0.2491	10	0.48119	T	0.1	.	9.2241	0.37395	0.0:0.0:0.0:1.0	.	52	Q9NR34	MA1C1_HUMAN	H	52	ENSP00000363452:L52H	ENSP00000363452:L52H	L	+	2	0	MAN1C1	25817030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.572000	0.60886	1.651000	0.50673	0.456000	0.33151	CTC		PASS	0.697	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		10	38	10	38	---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33237497	33237497	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:33237497C>T	ENST00000373480.1	+	6	2643	c.2540C>T	c.(2539-2541)tCg>tTg	p.S847L	KIAA1522_ENST00000373481.3_Missense_Mutation_p.S858L|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.S906L	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	847	Pro-rich.							p.S906L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTGGGGCCATCGGCCCCCCAG	0.721																																						uc001bvv.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2539-2541)TCG>TTG		hypothetical protein LOC57648							7.0	9.0	9.0					1																	33237497		1845	4051	5896	SO:0001583	missense	57648							g.chr1:33237497C>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2540C>T	1.37:g.33237497C>T	ENSP00000362579:p.Ser847Leu					KIAA1522_uc001bvu.1_Missense_Mutation_p.S906L|KIAA1522_uc010ohm.1_Missense_Mutation_p.S858L|KIAA1522_uc010ohn.1_Intron	p.S847L	NM_020888	NP_065939	Q9P206	K1522_HUMAN			6	2676	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	847			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.2540C>T	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	7.618	0.676254	0.14841	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.13420	2.59;2.59;2.6	4.98	0.67	0.17923	.	1.220330	0.06128	N	0.670027	T	0.10551	0.0258	N	0.21448	0.665	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.38887	-0.9640	10	0.40728	T	0.16	0.2419	9.2652	0.37636	0.0:0.6927:0.108:0.1993	.	858;847;906	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	L	906;858;847	ENSP00000383851:S906L;ENSP00000362580:S858L;ENSP00000362579:S847L	ENSP00000362579:S847L	S	+	2	0	KIAA1522	33010084	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.138000	0.16016	0.001000	0.14605	-0.813000	0.03139	TCG		PASS	0.721	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			16	10	16	10	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34033226	34033226	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:34033226G>T	ENST00000373381.4	-	53	8523	c.8347C>A	c.(8347-8349)Cat>Aat	p.H2783N		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2760	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H2760N(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACCAGTGATGATCCTGCTGG	0.542																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(8278-8280)CAT>AAT		CUB and Sushi multiple domains 2							130.0	102.0	111.0					1																	34033226		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34033226G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.8347C>A	1.37:g.34033226G>T	ENSP00000362479:p.His2783Asn					CSMD2_uc001bxm.1_Missense_Mutation_p.H2783N	p.H2760N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			54	8307	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2760			Sushi 18.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.8278C>A		.	.	.	.	.	.	.	.	.	.	G	18.95	3.731623	0.69189	.	.	ENSG00000121904	ENST00000373381	T	0.63417	-0.04	5.21	5.21	0.72293	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.67163	0.2864	L	0.33710	1.025	0.80722	D	1	B;P	0.50156	0.0;0.932	B;P	0.55824	0.008;0.785	T	0.68712	-0.5336	10	0.54805	T	0.06	.	18.106	0.89520	0.0:0.0:1.0:0.0	.	2760;2783	Q7Z408;E7EUA6	CSMD2_HUMAN;.	N	2783	ENSP00000362479:H2783N	ENSP00000241312:H2760N	H	-	1	0	CSMD2	33805813	1.000000	0.71417	0.987000	0.45799	0.999000	0.98932	9.809000	0.99208	2.599000	0.87857	0.655000	0.94253	CAT		PASS	0.542	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		44	15	44	15	---	---	---	---
CSF3R	1441	broad.mit.edu	37	1	36932199	36932199	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:36932199C>T	ENST00000373106.1	-	17	2817	c.2270G>A	c.(2269-2271)gGc>gAc	p.G757D	CSF3R_ENST00000373103.1_Missense_Mutation_p.G784D|CSF3R_ENST00000418048.2_Missense_Mutation_p.G757D|MRPS15_ENST00000373116.5_5'Flank|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_Missense_Mutation_p.G757D|CSF3R_ENST00000338937.5_Missense_Mutation_p.A726T|CSF3R_ENST00000373104.1_Intron|CSF3R_ENST00000440588.2_Missense_Mutation_p.G784D|CSF3R_ENST00000331941.5_Intron	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	757					cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.G784D(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGTGGGGCTGCCCAGCAGCTG	0.637																																						uc001caw.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(2269-2271)GGC>GAC		colony stimulating factor 3 receptor isoform a	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						36.0	37.0	37.0					1																	36932199		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36932199C>T	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.2270G>A	1.37:g.36932199C>T	ENSP00000362198:p.Gly757Asp					MRPS15_uc001cas.2_5'Flank|CSF3R_uc001cat.1_Missense_Mutation_p.G319D|CSF3R_uc009vvc.1_Missense_Mutation_p.G286D|CSF3R_uc001cau.1_Missense_Mutation_p.G157D|CSF3R_uc001cav.1_Intron|CSF3R_uc001cax.1_Missense_Mutation_p.G784D|CSF3R_uc001cay.1_Missense_Mutation_p.A726T	p.G757D	NM_000760	NP_000751	Q99062	CSF3R_HUMAN			17	2448	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	757			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000373106.1	37	c.2270G>A	CCDS413.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.98|12.98	2.101445|2.101445	0.37048|0.37048	.|.	.|.	ENSG00000119535|ENSG00000119535	ENST00000464465;ENST00000338937|ENST00000373106;ENST00000373103;ENST00000361632;ENST00000418048;ENST00000440588	T|T;T;T;T;T	0.35605|0.57595	1.3|0.84;0.39;0.84;0.84;0.39	5.68|5.68	3.78|3.78	0.43462|0.43462	.|.	.|0.850783	.|0.10540	.|N	.|0.662782	T|T	0.38665|0.38665	0.1049|0.1049	L|L	0.45581|0.45581	1.43|1.43	0.23823|0.23823	N|N	0.996747|0.996747	P|P;P;P	0.35507|0.43169	0.506|0.8;0.75;0.8	B|B;B;B	0.26864|0.34180	0.074|0.177;0.158;0.177	T|T	0.09930|0.09930	-1.0652|-1.0652	9|10	0.16420|0.10636	T|T	0.52|0.68	-20.1008|-20.1008	9.4934|9.4934	0.38974|0.38974	0.0:0.834:0.0:0.166|0.0:0.834:0.0:0.166	.|.	726|757;784;757	E1B6W6|Q1ZYL6;Q99062-3;Q99062	.|.;.;CSF3R_HUMAN	T|D	309;726|757;784;757;757;784	ENSP00000345013:A726T|ENSP00000362198:G757D;ENSP00000362195:G784D;ENSP00000355406:G757D;ENSP00000401588:G757D;ENSP00000397568:G784D	ENSP00000345013:A726T|ENSP00000355406:G757D	A|G	-|-	1|2	0|0	CSF3R|CSF3R	36704786|36704786	0.959000|0.959000	0.32827|0.32827	1.000000|1.000000	0.80357|0.80357	0.598000|0.598000	0.36846|0.36846	0.273000|0.273000	0.18662|0.18662	1.370000|1.370000	0.46153|0.46153	0.563000|0.563000	0.77884|0.77884	GCA|GGC		PASS	0.637	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		17	10	17	10	---	---	---	---
SLC5A9	200010	broad.mit.edu	37	1	48708225	48708225	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:48708225G>T	ENST00000438567.2	+	13	1826	c.1774G>T	c.(1774-1776)Ggg>Tgg	p.G592W	SLC5A9_ENST00000236495.5_Missense_Mutation_p.G617W|SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000533824.1_Missense_Mutation_p.G613W	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	592					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.G610W(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GAGGCCAGCCGGGGAGTGCCC	0.657																																						uc001cro.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1774-1776)GGG>TGG		solute carrier family 5 (sodium/glucose							38.0	41.0	40.0					1																	48708225		2203	4300	6503	SO:0001583	missense	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48708225G>T	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1774G>T	1.37:g.48708225G>T	ENSP00000401730:p.Gly592Trp					SLC5A9_uc001crn.2_Missense_Mutation_p.G617W|SLC5A9_uc010omt.1_Missense_Mutation_p.G606W|SLC5A9_uc001crp.2_Missense_Mutation_p.G259W|SLC5A9_uc010omu.1_Missense_Mutation_p.G259W|SLC5A9_uc009vyt.1_RNA	p.G592W	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN			13	1826	+			592			Cytoplasmic (Potential).		B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	c.1774G>T	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	G	10.69	1.419921	0.25552	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	T;T;T	0.63096	-0.02;-0.02;-0.02	4.55	-1.52	0.08637	.	1.196380	0.06337	N	0.707298	T	0.48642	0.1511	L	0.43152	1.355	0.09310	N	1	B;B;B	0.16166	0.002;0.016;0.004	B;B;B	0.15052	0.003;0.012;0.008	T	0.42682	-0.9437	10	0.62326	D	0.03	.	1.9067	0.03278	0.1849:0.2841:0.3862:0.1448	.	613;592;617	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	W	613;592;617	ENSP00000431900:G613W;ENSP00000401730:G592W;ENSP00000236495:G617W	ENSP00000236495:G617W	G	+	1	0	SLC5A9	48480812	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.437000	0.06914	-0.143000	0.11334	0.591000	0.81541	GGG		PASS	0.657	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		37	18	37	18	---	---	---	---
KANK4	163782	broad.mit.edu	37	1	62739203	62739203	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:62739203C>A	ENST00000371153.4	-	3	1951	c.1573G>T	c.(1573-1575)Ggc>Tgc	p.G525C	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	525						cytoplasm (GO:0005737)		p.G525C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTGTCGCTGCCCCACAGAAAG	0.602																																						uc001dah.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|lung(1)	6						c.(1573-1575)GGC>TGC		ankyrin repeat domain 38							55.0	56.0	55.0					1																	62739203		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62739203C>A	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1573G>T	1.37:g.62739203C>A	ENSP00000360195:p.Gly525Cys					KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	p.G525C	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			3	1950	-			525					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.1573G>T	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548338	0.27652	.	.	ENSG00000132854	ENST00000371153	T	0.46063	0.88	5.14	2.66	0.31614	.	0.157867	0.30151	N	0.010300	T	0.18130	0.0435	N	0.08118	0	0.26774	N	0.969744	P	0.40660	0.726	B	0.32980	0.156	T	0.08638	-1.0712	10	0.48119	T	0.1	-5.8588	7.8017	0.29178	0.0:0.1707:0.0:0.8293	.	525	Q5T7N3	KANK4_HUMAN	C	525	ENSP00000360195:G525C	ENSP00000360195:G525C	G	-	1	0	KANK4	62511791	0.000000	0.05858	0.292000	0.24919	0.031000	0.12232	-0.143000	0.10296	0.896000	0.36366	-0.459000	0.05422	GGC		PASS	0.602	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		41	19	41	19	---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66075935	66075935	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:66075935G>C	ENST00000349533.6	+	14	2136	c.1951G>C	c.(1951-1953)Gga>Cga	p.G651R	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.G651R|LEPR_ENST00000371059.3_Missense_Mutation_p.G651R|LEPR_ENST00000371060.3_Missense_Mutation_p.G651R|LEPR_ENST00000344610.8_Missense_Mutation_p.G651R|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.G651R(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AATAATTAATGGAGATACTAT	0.269																																						uc001dci.2																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(1951-1953)GGA>CGA		leptin receptor isoform 1							54.0	57.0	56.0					1																	66075935		2201	4298	6499	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66075935G>C	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1951G>C	1.37:g.66075935G>C	ENSP00000330393:p.Gly651Arg					LEPR_uc001dcg.2_Missense_Mutation_p.G651R|LEPR_uc001dch.2_Missense_Mutation_p.G651R|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.G651R|LEPR_uc001dck.2_Missense_Mutation_p.G651R	p.G651R	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	14	2153	+			651			Extracellular (Potential).|Fibronectin type-III 3.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.1951G>C	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.552130	0.45487	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.53857	0.61;0.61;0.61;0.6;0.61	5.33	5.33	0.75918	Fibronectin, type III (2);	0.216274	0.47093	D	0.000243	T	0.25121	0.0610	N	0.22421	0.69	0.80722	D	1	P;P;B	0.44734	0.756;0.842;0.328	B;B;B	0.42653	0.319;0.394;0.111	T	0.04178	-1.0971	10	0.19590	T	0.45	-11.4896	12.3836	0.55322	0.0775:0.0:0.9225:0.0	.	651;651;651	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	R	651	ENSP00000340884:G651R;ENSP00000330393:G651R;ENSP00000360099:G651R;ENSP00000360098:G651R;ENSP00000360097:G651R	ENSP00000340884:G651R	G	+	1	0	LEPR	65848523	1.000000	0.71417	0.188000	0.23233	0.689000	0.40095	5.462000	0.66707	2.490000	0.84030	0.650000	0.86243	GGA		PASS	0.269	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		32	17	32	17	---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67147875	67147875	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:67147875C>A	ENST00000371037.4	+	15	1215	c.1138C>A	c.(1138-1140)Cag>Aag	p.Q380K	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.Q384K|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	380	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.Q380K(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGAAGAAGTCCAGAAGAAAGT	0.537																																						uc001dcr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1138-1140)CAG>AAG		SH3-domain GRB2-like (endophilin) interacting							78.0	93.0	88.0					1																	67147875		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67147875C>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1138C>A	1.37:g.67147875C>A	ENSP00000360076:p.Gln380Lys					SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.Q147K	p.Q380K	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			15	1355	+			380			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1138C>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939871	0.52972	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.03004	4.08;4.08	5.19	5.19	0.71726	.	0.348665	0.30464	N	0.009575	T	0.01523	0.0049	L	0.40543	1.245	0.80722	D	1	P;B	0.43788	0.817;0.231	B;B	0.36092	0.217;0.05	T	0.47548	-0.9109	10	0.06365	T	0.9	-8.9701	19.0749	0.93156	0.0:1.0:0.0:0.0	.	383;380	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	K	384;383;383;380	ENSP00000237247:Q384K;ENSP00000360076:Q380K	ENSP00000237247:Q384K	Q	+	1	0	SGIP1	66920463	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.075000	0.64407	2.570000	0.86706	0.455000	0.32223	CAG		PASS	0.537	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		111	61	111	61	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86203190	86203190	+	Splice_Site	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:86203190T>A	ENST00000370571.2	-	58	5039		c.e58-2		COL24A1_ENST00000436319.1_Splice_Site	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGTATTTTCCTAATAATTTAT	0.348																																						uc001dlj.2																			1	Unknown(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.e58-1		collagen, type XXIV, alpha 1 precursor							41.0	40.0	41.0					1																	86203190		1818	4072	5890	SO:0001630	splice_region_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86203190T>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4673-2A>T	1.37:g.86203190T>A						COL24A1_uc001dli.2_Splice_Site_p.G673_splice|COL24A1_uc010osd.1_Splice_Site_p.G858_splice|COL24A1_uc001dlk.2_Splice_Site|COL24A1_uc010ose.1_Splice_Site|COL24A1_uc010osf.1_Intron	p.G1558_splice	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	58	4715	-								C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Splice_Site	SNP	ENST00000370571.2	37	c.4673_splice	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937478	0.73557	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2956	0.66311	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL24A1	85975778	1.000000	0.71417	0.991000	0.47740	0.951000	0.60555	7.644000	0.83416	1.957000	0.56846	0.460000	0.39030	.		PASS	0.348	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	Intron	4	6	4	6	---	---	---	---
GBP4	115361	broad.mit.edu	37	1	89652768	89652768	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:89652768C>T	ENST00000355754.6	-	9	1525	c.1428G>A	c.(1426-1428)caG>caA	p.Q476Q	GBP4_ENST00000471938.1_5'Flank	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	476						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q476Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GCAGGAAGTTCTGGAGGACCT	0.502																																						uc001dnb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1426-1428)CAG>CAA		guanylate binding protein 4							124.0	107.0	113.0					1																	89652768		2203	4300	6503	SO:0001819	synonymous_variant	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89652768C>T	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1428G>A	1.37:g.89652768C>T							p.Q476Q	NM_052941	NP_443173	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	9	1544	-			476					B2R630|Q05D63|Q6NSL0|Q86T99	Silent	SNP	ENST00000355754.6	37	c.1428G>A	CCDS721.1																																																																																				PASS	0.502	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		57	24	57	24	---	---	---	---
GFI1	2672	broad.mit.edu	37	1	92946204	92946204	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:92946204C>A	ENST00000370332.1	-	4	1058	c.740G>T	c.(739-741)cGc>cTc	p.R247L	GFI1_ENST00000427103.1_Missense_Mutation_p.R247L|GFI1_ENST00000483490.1_5'Flank|GFI1_ENST00000294702.5_Missense_Mutation_p.R247L	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	247	Required for interaction with RELA.				auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R247L(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CAGCAGCAGGCGGGTGCACAG	0.706																																						uc001dou.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(739-741)CGC>CTC		growth factor independent 1							6.0	8.0	8.0					1																	92946204		2042	4091	6133	SO:0001583	missense	2672				negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr1:92946204C>A	U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"""Zinc fingers, C2H2-type"""	4237	protein-coding gene	gene with protein product		600871	"""growth factor independent 1"""	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.740G>T	1.37:g.92946204C>A	ENSP00000359357:p.Arg247Leu					GFI1_uc001dov.3_Missense_Mutation_p.R247L|GFI1_uc001dow.3_Missense_Mutation_p.R247L	p.R247L	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)	4	904	-		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)	247					Q8N564	Missense_Mutation	SNP	ENST00000370332.1	37	c.740G>T	CCDS30773.1	.	.	.	.	.	.	.	.	.	.	c	11.06	1.526854	0.27299	.	.	ENSG00000162676	ENST00000370332;ENST00000427103;ENST00000294702	T;T;T	0.09073	3.02;3.02;3.02	4.05	3.12	0.35913	.	0.380247	0.29609	N	0.011668	T	0.03053	0.0090	L	0.41824	1.3	0.41646	D	0.989107	B	0.10296	0.003	B	0.06405	0.002	T	0.18429	-1.0337	10	0.62326	D	0.03	-42.3346	9.2959	0.37815	0.1376:0.6564:0.206:0.0	.	247	Q99684	GFI1_HUMAN	L	247	ENSP00000359357:R247L;ENSP00000399719:R247L;ENSP00000294702:R247L	ENSP00000294702:R247L	R	-	2	0	GFI1	92718792	1.000000	0.71417	0.999000	0.59377	0.001000	0.01503	5.236000	0.65354	1.035000	0.39972	-0.553000	0.04205	CGC		PASS	0.706	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030054.1	NM_005263		8	5	8	5	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103404590	103404590	+	Splice_Site	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:103404590C>A	ENST00000370096.3	-	44	3751		c.e44+1		COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000358392.2_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.?(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGAAACTCACATTTTCTCCC	0.343																																						uc001dul.2																			2	Unknown(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.e44+1		alpha 1 type XI collagen isoform A							157.0	156.0	156.0					1																	103404590		2203	4300	6503	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103404590C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3438+1G>T	1.37:g.103404590C>A						COL11A1_uc001duk.2_Splice_Site_p.N342_splice|COL11A1_uc001dum.2_Splice_Site_p.N1158_splice|COL11A1_uc001dun.2_Splice_Site_p.N1107_splice|COL11A1_uc009weh.2_Splice_Site_p.N1030_splice	p.N1146_splice	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	44	3756	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)						B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37	c.3438_splice	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735994	0.89482	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2688	0.94000	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A1	103177178	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.750000	0.85110	2.639000	0.89480	0.591000	0.81541	.		PASS	0.343	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Intron	52	34	52	34	---	---	---	---
RSBN1	54665	broad.mit.edu	37	1	114354958	114354958	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:114354958C>T	ENST00000261441.5	-	1	140	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	26						nucleus (GO:0005634)		p.R26Q(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGCGCCGCCCGCGCACTGCC	0.652																																						uc001edq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(76-78)CGG>CAG		round spermatid basic protein 1							16.0	23.0	21.0					1																	114354958		2190	4288	6478	SO:0001583	missense	54665					nucleus		g.chr1:114354958C>T	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.77G>A	1.37:g.114354958C>T	ENSP00000261441:p.Arg26Gln					RSBN1_uc001edr.2_RNA	p.R26Q	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	113	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	26					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	c.77G>A	CCDS862.1	.	.	.	.	.	.	.	.	.	.	c	15.63	2.891135	0.52014	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.77	0.716	0.18191	.	0.159039	0.30109	N	0.010399	T	0.05731	0.0150	N	0.08118	0	0.19300	N	0.999971	B	0.12013	0.005	B	0.08055	0.003	T	0.31308	-0.9948	9	0.87932	D	0	-0.0274	5.1679	0.15096	0.0:0.5483:0.1389:0.3128	.	26	Q5VWQ0	RSBN1_HUMAN	Q	26	.	ENSP00000261441:R26Q	R	-	2	0	RSBN1	114156481	0.959000	0.32827	0.899000	0.35326	0.230000	0.25150	0.204000	0.17335	-0.099000	0.12263	-1.748000	0.00681	CGG		PASS	0.652	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		34	9	34	9	---	---	---	---
HSD3B1	3283	broad.mit.edu	37	1	120050171	120050171	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:120050171G>A	ENST00000369413.3	+	2	217	c.72G>A	c.(70-72)gtG>gtA	p.V24V	HSD3B1_ENST00000528909.1_Silent_p.V24V|HSD3B1_ENST00000235547.6_Silent_p.V26V			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	24					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.V24V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	GCCTCTTGGTGAAGGAGAAGG	0.522																																						uc001ehv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(70-72)GTG>GTA		3 beta-hydroxysteroid dehydrogenase 1	NADH(DB00157)|Trilostane(DB01108)						142.0	124.0	130.0					1																	120050171		2203	4300	6503	SO:0001819	synonymous_variant	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120050171G>A	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.72G>A	1.37:g.120050171G>A						HSD3B1_uc001ehw.2_Silent_p.V26V	p.V24V	NM_000862	NP_000853	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	2	217	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	24					A8K691|Q14545|Q8IV65	Silent	SNP	ENST00000369413.3	37	c.72G>A	CCDS903.1																																																																																				PASS	0.522	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		60	29	60	29	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120612002	120612002	+	Missense_Mutation	SNP	C	C	G	rs372504208		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:120612002C>G	ENST00000256646.2	-	1	238	c.19G>C	c.(19-21)Gct>Cct	p.A7P		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	7					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.A7P(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACAGCAGAGCGGGGCGCAGG	0.766			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2				Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		1	Substitution - Missense(1)		lung(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(19-21)GCT>CCT		notch 2 preproprotein							6.0	9.0	8.0					1																	120612002		1838	3883	5721	SO:0001583	missense	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612002C>G	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.19G>C	1.37:g.120612002C>G	ENSP00000256646:p.Ala7Pro					NOTCH2_uc001eil.2_Missense_Mutation_p.A7P|NOTCH2_uc001eim.3_5'UTR	p.A7P	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	275	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	7					Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.19G>C	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353547	0.24512	.	.	ENSG00000134250	ENST00000256646	D	0.82344	-1.6	2.9	1.91	0.25777	.	.	.	.	.	T	0.46171	0.1379	N	0.12746	0.255	0.09310	N	1	B;B	0.30406	0.278;0.278	B;B	0.18561	0.016;0.022	T	0.37979	-0.9682	9	0.72032	D	0.01	.	6.86	0.24062	0.2767:0.7233:0.0:0.0	.	7;7	Q6IQ50;Q04721	.;NOTC2_HUMAN	P	7	ENSP00000256646:A7P	ENSP00000256646:A7P	A	-	1	0	NOTCH2	120413525	0.828000	0.29307	0.229000	0.23960	0.554000	0.35429	1.579000	0.36536	0.513000	0.28278	0.184000	0.17185	GCT		PASS	0.766	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		3	15	3	15	---	---	---	---
FCGR1B	2210	broad.mit.edu	37	1	120927180	120927180	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:120927180A>T	ENST00000369384.4	-	5	842	c.800T>A	c.(799-801)cTg>cAg	p.L267Q	FCGR1B_ENST00000472543.1_5'Flank|RP11-439A17.9_ENST00000457996.1_RNA|FCGR1B_ENST00000369383.4_Missense_Mutation_p.L175Q|RP11-439A17.10_ENST00000426275.1_RNA	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	267					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)|cytokine-mediated signaling pathway (GO:0019221)|Fc receptor signaling pathway (GO:0038093)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	immunoglobulin receptor activity (GO:0019763)	p.L267Q(1)		breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	Intravenous Immunoglobulin(DB00028)	CCCTTCCTGCAGCTGTTCTTC	0.537																																						uc001eip.2																			1	Substitution - Missense(1)		lung(1)		0						c.(799-801)CTG>CAG		Fc fragment of IgG, high affinity Ib, receptor							18.0	21.0	20.0					1																	120927180		2165	4245	6410	SO:0001583	missense	2210				interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity	g.chr1:120927180A>T		CCDS72844.1, CCDS72845.1, CCDS72846.1	1p11.2	2013-01-11	2005-02-02		ENSG00000198019	ENSG00000198019		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3614	protein-coding gene	gene with protein product		601502	"""Fc fragment of IgG, high affinity Ib, receptor for (CD64)"""			8697799, 9763663	Standard	NM_001017986		Approved	CD64b	uc001eip.3	Q92637	OTTHUMG00000040903	ENST00000369384.4:c.800T>A	1.37:g.120927180A>T	ENSP00000358391:p.Leu267Gln					FCGR1B_uc001eiq.2_Missense_Mutation_p.L175Q|FCGR1B_uc010oxl.1_RNA	p.L267Q	NM_001017986	NP_001017986	Q92637	FCGRB_HUMAN		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	5	850	-	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)	267			Cytoplasmic (Potential).		Q7KZ13|Q92638	Missense_Mutation	SNP	ENST00000369384.4	37	c.800T>A	CCDS30821.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.735811	0.30774	.	.	ENSG00000198019	ENST00000369384;ENST00000369383	T;T	0.07567	4.44;3.18	1.96	-0.992	0.10232	.	6.763590	0.00357	N	0.000024	T	0.01627	0.0052	N	0.22421	0.69	0.09310	N	1	B;B	0.26577	0.153;0.035	B;B	0.17979	0.02;0.009	T	0.42241	-0.9463	10	0.38643	T	0.18	.	4.5516	0.12116	0.4772:0.0:0.0:0.5228	.	175;267	Q92637-3;Q92637	.;FCGRB_HUMAN	Q	267;175	ENSP00000358391:L267Q;ENSP00000358390:L175Q	ENSP00000358390:L175Q	L	-	2	0	FCGR1B	120728703	0.000000	0.05858	0.001000	0.08648	0.118000	0.20060	-0.674000	0.05233	-0.219000	0.10003	0.155000	0.16302	CTG		PASS	0.537	FCGR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098241.1			29	19	29	19	---	---	---	---
LCE2B	26239	broad.mit.edu	37	1	152659444	152659444	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:152659444C>T	ENST00000368780.3	+	2	179	c.125C>T	c.(124-126)cCt>cTt	p.P42L	LCE2B_ENST00000417924.2_Missense_Mutation_p.P42L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	42	Cys-rich.|Pro-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)			p.P42L(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTCCCCTGCAGTCTCT	0.627																																						uc001fai.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(124-126)CCT>CTT		late cornified envelope 2B							146.0	153.0	150.0					1																	152659444		2203	4300	6503	SO:0001583	missense	26239				keratinization			g.chr1:152659444C>T	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"""Late cornified envelopes"""	16610	protein-coding gene	gene with protein product		612610	"""small proline rich-like (epidermal differentiation complex) 1B"""	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.125C>T	1.37:g.152659444C>T	ENSP00000357769:p.Pro42Leu						p.P42L	NM_014357	NP_055172	O14633	LCE2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	179	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		42			Pro-rich.|Cys-rich.		Q5TA80	Missense_Mutation	SNP	ENST00000368780.3	37	c.125C>T	CCDS1020.1	.	.	.	.	.	.	.	.	.	.	C	0.208	-1.038741	0.02013	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.12984	2.63;2.63	2.3	2.3	0.28687	.	.	.	.	.	T	0.04092	0.0114	L	0.36672	1.1	0.09310	N	1	P	0.44659	0.84	B	0.37692	0.256	T	0.29761	-1.0001	9	0.87932	D	0	.	8.0371	0.30499	0.0:1.0:0.0:0.0	.	42	O14633	LCE2B_HUMAN	L	42	ENSP00000414043:P42L;ENSP00000357769:P42L	ENSP00000357769:P42L	P	+	2	0	LCE2B	150926068	0.003000	0.15002	0.002000	0.10522	0.004000	0.04260	1.775000	0.38584	1.263000	0.44181	0.313000	0.20887	CCT		PASS	0.627	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		111	176	111	176	---	---	---	---
LCE4A	199834	broad.mit.edu	37	1	152681816	152681816	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:152681816G>T	ENST00000368777.1	+	2	521	c.265G>T	c.(265-267)Ggt>Tgt	p.G89C	LCE4A_ENST00000335535.3_Missense_Mutation_p.G89C			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	89	Cys-rich.				keratinization (GO:0031424)			p.G89C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			GCAGTCTGGGGGTTCTGGCTG	0.597																																						uc001fak.2																			1	Substitution - Missense(1)		lung(1)		0						c.(265-267)GGT>TGT		late cornified envelope 4A							28.0	32.0	31.0					1																	152681816		2203	4300	6503	SO:0001583	missense	199834				keratinization			g.chr1:152681816G>T	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.265G>T	1.37:g.152681816G>T	ENSP00000357766:p.Gly89Cys						p.G89C	NM_178356	NP_848133	Q5TA78	LCE4A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.116)		1	294	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		89			Cys-rich.		Q14D97	Missense_Mutation	SNP	ENST00000368777.1	37	c.265G>T	CCDS1022.1	.	.	.	.	.	.	.	.	.	.	G	8.991	0.977653	0.18812	.	.	ENSG00000187170	ENST00000368777;ENST00000335535	T;T	0.04275	3.66;3.66	4.11	-0.103	0.13609	.	.	.	.	.	T	0.01092	0.0036	.	.	.	0.09310	N	1	B	0.32051	0.354	B	0.26770	0.073	T	0.46693	-0.9173	8	0.87932	D	0	.	3.2901	0.06945	0.3146:0.0:0.5034:0.1819	.	89	Q5TA78	LCE4A_HUMAN	C	89	ENSP00000357766:G89C;ENSP00000335223:G89C	ENSP00000335223:G89C	G	+	1	0	LCE4A	150948440	0.001000	0.12720	0.001000	0.08648	0.494000	0.33585	0.238000	0.18004	-0.212000	0.10109	0.313000	0.20887	GGT		PASS	0.597	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		25	47	25	47	---	---	---	---
NPR1	4881	broad.mit.edu	37	1	153661941	153661941	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:153661941C>G	ENST00000368680.3	+	18	3173	c.2701C>G	c.(2701-2703)Ctc>Gtc	p.L901V		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	901	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)	p.L901V(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GGTGACCCTGCTCAATGACCT	0.537																																					Pancreas(141;1349 1870 15144 15830 40702)	uc001fcs.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|stomach(1)|breast(1)	7						c.(2701-2703)CTC>GTC		natriuretic peptide receptor 1 precursor	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						207.0	185.0	193.0					1																	153661941		2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153661941C>G	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2701C>G	1.37:g.153661941C>G	ENSP00000357669:p.Leu901Val					NPR1_uc010pdz.1_Missense_Mutation_p.L647V|NPR1_uc010pea.1_Missense_Mutation_p.L379V	p.L901V	NM_000906	NP_000897	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3122	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		901			Guanylate cyclase.|Cytoplasmic (Potential).		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.2701C>G	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298924	0.60195	.	.	ENSG00000169418	ENST00000368680;ENST00000428723;ENST00000368677	D	0.86230	-2.09	3.11	3.11	0.35812	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000017	D	0.94928	0.8360	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95657	0.8712	10	0.87932	D	0	.	12.4922	0.55907	0.0:1.0:0.0:0.0	.	380;901	B7Z4Y7;P16066	.;ANPRA_HUMAN	V	901;380;82	ENSP00000357669:L901V	ENSP00000357666:L82V	L	+	1	0	NPR1	151928565	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.857000	0.55972	2.057000	0.61298	0.462000	0.41574	CTC		PASS	0.537	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		55	137	55	137	---	---	---	---
AQP10	89872	broad.mit.edu	37	1	154296240	154296240	+	Missense_Mutation	SNP	G	G	A	rs200639079		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:154296240G>A	ENST00000324978.3	+	5	705	c.665G>A	c.(664-666)cGt>cAt	p.R222H	ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000484864.1_Missense_Mutation_p.R222H|AQP10_ENST00000355197.4_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	222					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R222H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGGGCCCACGTCTCTTCACC	0.627																																						uc001feu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(664-666)CGT>CAT		aquaporin 10							55.0	56.0	56.0					1																	154296240		2203	4300	6503	SO:0001583	missense	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154296240G>A	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.665G>A	1.37:g.154296240G>A	ENSP00000318355:p.Arg222His					AQP10_uc001fev.2_Missense_Mutation_p.R222H|ATP8B2_uc001few.2_5'Flank	p.R222H	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	705	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		222			Extracellular (Potential).		Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.665G>A	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	G	33	5.196863	0.94960	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	T;T	0.13657	2.57;2.57	4.74	4.74	0.60224	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	H	0.99498	4.595	0.50632	D	0.999885	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75695	-0.3228	10	0.87932	D	0	.	16.5196	0.84310	0.0:0.0:1.0:0.0	.	222;222	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	H	222	ENSP00000318355:R222H;ENSP00000420341:R222H	ENSP00000318355:R222H	R	+	2	0	AQP10	152562864	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.425000	0.73370	2.479000	0.83701	0.555000	0.69702	CGT		PASS	0.627	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		11	52	11	52	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154841808	154841808	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:154841808G>A	ENST00000271915.4	-	1	948	c.633C>T	c.(631-633)ttC>ttT	p.F211F	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	216					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.F211F(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	TGCTAGGGCTGAAAAGCTGGA	0.637																																						uc001ffp.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(631-633)TTC>TTT		small conductance calcium-activated potassium							49.0	50.0	50.0					1																	154841808		2203	4300	6503	SO:0001819	synonymous_variant	3782					integral to membrane	calmodulin binding	g.chr1:154841808G>A	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.633C>T	1.37:g.154841808G>A						KCNN3_uc009wox.1_Silent_p.F211F	p.F211F	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	947	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		216					B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	c.633C>T	CCDS30880.1																																																																																				PASS	0.637	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		36	63	36	63	---	---	---	---
SEMA4A	64218	broad.mit.edu	37	1	156144709	156144709	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:156144709A>G	ENST00000368285.3	+	12	1679	c.1412A>G	c.(1411-1413)aAc>aGc	p.N471S	SEMA4A_ENST00000368282.1_Missense_Mutation_p.N471S|SEMA4A_ENST00000355014.2_Missense_Mutation_p.N471S|SEMA4A_ENST00000368284.1_Missense_Mutation_p.N339S|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Missense_Mutation_p.N339S	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	471	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.N471S(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCTGTTCGCAACCTGCAGCTG	0.622																																						uc001fnl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1411-1413)AAC>AGC		semaphorin B precursor							118.0	93.0	101.0					1																	156144709		2203	4300	6503	SO:0001583	missense	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156144709A>G	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1412A>G	1.37:g.156144709A>G	ENSP00000357268:p.Asn471Ser					SEMA4A_uc009wrq.2_Missense_Mutation_p.N471S|SEMA4A_uc001fnm.2_Missense_Mutation_p.N471S|SEMA4A_uc001fnn.2_Missense_Mutation_p.N339S|SEMA4A_uc001fno.2_Missense_Mutation_p.N471S	p.N471S	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN			12	1516	+	Hepatocellular(266;0.158)		471			Sema.|Extracellular (Potential).		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	c.1412A>G	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	A	9.631	1.136309	0.21123	.	.	ENSG00000196189	ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.12	5.12	0.69794	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.369574	0.31624	N	0.007324	T	0.05914	0.0154	N	0.24115	0.695	0.45076	D	0.99809	B;B	0.21225	0.053;0.053	B;B	0.30251	0.113;0.113	T	0.10917	-1.0609	10	0.07644	T	0.81	.	12.8658	0.57937	1.0:0.0:0.0:0.0	.	339;471	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	S	471;471;339;433;433;339;471	ENSP00000347117:N471S;ENSP00000357268:N471S;ENSP00000357267:N339S;ENSP00000357269:N339S;ENSP00000357265:N471S	ENSP00000347117:N471S	N	+	2	0	SEMA4A	154411333	1.000000	0.71417	0.979000	0.43373	0.161000	0.22273	2.768000	0.47645	1.932000	0.55993	0.459000	0.35465	AAC		PASS	0.622	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		29	73	29	73	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156616841	156616841	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:156616841C>T	ENST00000329117.5	+	3	676	c.340C>T	c.(340-342)Cca>Tca	p.P114S	BCAN_ENST00000361588.5_Missense_Mutation_p.P114S|RP11-284F21.7_ENST00000448869.1_RNA|RP11-284F21.10_ENST00000605886.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	114	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.P114S(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTGCGTACCCAGCGTCGCT	0.672																																						uc001fpp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(340-342)CCA>TCA		brevican isoform 1							45.0	32.0	37.0					1																	156616841		2201	4300	6501	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156616841C>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.340C>T	1.37:g.156616841C>T	ENSP00000331210:p.Pro114Ser					BCAN_uc001fpo.2_Missense_Mutation_p.P114S	p.P114S	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			3	676	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		114			Ig-like V-type.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.340C>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852231	0.51270	.	.	ENSG00000132692	ENST00000441358;ENST00000255029;ENST00000329117;ENST00000457777;ENST00000361588	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	4.61	4.61	0.57282	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.094575	0.41938	D	0.000789	T	0.56247	0.1972	L	0.39147	1.195	0.38458	D	0.947131	P;P	0.45986	0.87;0.532	P;B	0.46718	0.525;0.343	T	0.64554	-0.6380	10	0.66056	D	0.02	-16.0389	16.1664	0.81759	0.0:1.0:0.0:0.0	.	114;114	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	S	114	ENSP00000392731:P114S;ENSP00000331210:P114S;ENSP00000389898:P114S;ENSP00000354925:P114S	ENSP00000255029:P114S	P	+	1	0	BCAN	154883465	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	1.179000	0.31993	2.379000	0.81126	0.455000	0.32223	CCA		PASS	0.672	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		14	28	14	28	---	---	---	---
FCRL1	115350	broad.mit.edu	37	1	157772365	157772365	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:157772365C>A	ENST00000368176.3	-	4	476	c.409G>T	c.(409-411)Gct>Tct	p.A137S	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Missense_Mutation_p.A137S|FCRL1_ENST00000491942.1_Missense_Mutation_p.A137S	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	137	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A137S(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTGCCCATAGCAACTGAGCAG	0.542																																					GBM(54;482 1003 11223 30131 35730)	uc001frg.2																			2	Substitution - Missense(2)		lung(2)	skin(4)|ovary(3)	7						c.(409-411)GCT>TCT		Fc receptor-like 1 isoform 1 precursor							82.0	71.0	75.0					1																	157772365		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157772365C>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.409G>T	1.37:g.157772365C>A	ENSP00000357158:p.Ala137Ser					FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.A137S|FCRL1_uc001fri.2_Missense_Mutation_p.A137S|FCRL1_uc001frj.2_Intron	p.A137S	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	522	-	all_hematologic(112;0.0378)		137			Ig-like C2-type 2.|Extracellular (Potential).		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.409G>T	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570871	0.28003	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.11063	2.81;2.81;2.81	5.52	1.26	0.21427	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.742385	0.12436	N	0.469134	T	0.06781	0.0173	M	0.75150	2.29	0.09310	N	1	P;P;P	0.52842	0.851;0.861;0.956	P;P;P	0.49799	0.493;0.495;0.622	T	0.21245	-1.0251	10	0.29301	T	0.29	.	4.2617	0.10744	0.1553:0.5772:0.0:0.2676	.	137;137;137	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	S	137	ENSP00000351039:A137S;ENSP00000357158:A137S;ENSP00000418130:A137S	ENSP00000351039:A137S	A	-	1	0	FCRL1	156038989	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.476000	0.06591	0.037000	0.15575	0.655000	0.94253	GCT		PASS	0.542	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		40	57	40	57	---	---	---	---
CD5L	922	broad.mit.edu	37	1	157803197	157803197	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:157803197T>C	ENST00000368174.4	-	5	920	c.824A>G	c.(823-825)gAa>gGa	p.E275G	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	275	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.E275G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTCCTCCTTTTCTCCCCAGTT	0.572																																						uc001frk.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(823-825)GAA>GGA		CD5 molecule-like precursor							133.0	135.0	134.0					1																	157803197		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157803197T>C	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.824A>G	1.37:g.157803197T>C	ENSP00000357156:p.Glu275Gly						p.E275G	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	967	-	all_hematologic(112;0.0378)		275			SRCR 3.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.824A>G	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	T	9.237	1.037391	0.19669	.	.	ENSG00000073754	ENST00000368174	T	0.36157	1.27	5.06	-3.92	0.04155	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	1.108720	0.06739	N	0.777961	T	0.15089	0.0364	L	0.53617	1.68	0.09310	N	1	P	0.50369	0.934	P	0.45971	0.499	T	0.10520	-1.0626	10	0.41790	T	0.15	.	3.6907	0.08344	0.1186:0.149:0.4865:0.2459	.	275	O43866	CD5L_HUMAN	G	275	ENSP00000357156:E275G	ENSP00000357156:E275G	E	-	2	0	CD5L	156069821	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-0.192000	0.09587	-0.941000	0.03700	-0.316000	0.08728	GAA		PASS	0.572	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		90	122	90	122	---	---	---	---
CD1B	910	broad.mit.edu	37	1	158298786	158298786	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:158298786C>G	ENST00000368168.3	-	5	1012	c.905G>C	c.(904-906)gGc>gCc	p.G302A		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	302					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.G302A(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AACAATTGAGCCAATGGAGGT	0.458																																						uc001frx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(904-906)GGC>GCC		CD1B antigen precursor							102.0	93.0	96.0					1																	158298786		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158298786C>G	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.905G>C	1.37:g.158298786C>G	ENSP00000357150:p.Gly302Ala					CD1B_uc001frw.2_Missense_Mutation_p.G140A	p.G302A	NM_001764	NP_001755	P29016	CD1B_HUMAN			5	1013	-	all_hematologic(112;0.0378)		302			Extracellular (Potential).		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.905G>C	CCDS1176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.37|12.37	1.916515|1.916515	0.33815|0.33815	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000368168|ENST00000451207	T|.	0.01335|.	5.0|.	4.26|4.26	3.34|3.34	0.38264|0.38264	MHC class I-like antigen recognition (1);|.	0.520312|.	0.16291|.	N|.	0.220895|.	T|T	0.43612|0.43612	0.1255|0.1255	M|M	0.79805|0.79805	2.47|2.47	0.09310|0.09310	N|N	1|1	B;D|.	0.54772|.	0.085;0.968|.	B;P|.	0.49192|.	0.04;0.602|.	T|T	0.34800|0.34800	-0.9814|-0.9814	10|5	0.17369|.	T|.	0.5|.	-0.2993|-0.2993	9.5443|9.5443	0.39271|0.39271	0.2104:0.7896:0.0:0.0|0.2104:0.7896:0.0:0.0	.|.	302;247|.	P29016;P29016-2|.	CD1B_HUMAN;.|.	A|C	302|214	ENSP00000357150:G302A|.	ENSP00000357150:G302A|.	G|W	-|-	2|3	0|0	CD1B|CD1B	156565410|156565410	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.002000|0.002000	0.02628|0.02628	-0.252000|-0.252000	0.08806|0.08806	1.125000|1.125000	0.41998|0.41998	0.655000|0.655000	0.94253|0.94253	GGC|TGG		PASS	0.458	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		29	51	29	51	---	---	---	---
OR6K6	128371	broad.mit.edu	37	1	158724842	158724842	+	Silent	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:158724842G>T	ENST00000368144.2	+	1	333	c.237G>T	c.(235-237)gtG>gtT	p.V79V		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V79V(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TCATCCAGGTGGGCATGGCCC	0.483																																						uc001fsw.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(235-237)GTG>GTT		olfactory receptor, family 6, subfamily K,							177.0	173.0	174.0					1																	158724842		2203	4300	6503	SO:0001819	synonymous_variant	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158724842G>T	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.237G>T	1.37:g.158724842G>T							p.V79V	NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN			1	237	+	all_hematologic(112;0.0378)		79			Cytoplasmic (Potential).		B9EIM8|Q5VUU9|Q6IFR4	Silent	SNP	ENST00000368144.2	37	c.237G>T	CCDS30904.1																																																																																				PASS	0.483	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		90	152	90	152	---	---	---	---
IGSF8	93185	broad.mit.edu	37	1	160062359	160062359	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:160062359C>A	ENST00000368086.1	-	5	1655	c.1439G>T	c.(1438-1440)tGg>tTg	p.W480L	IGSF8_ENST00000460351.1_5'Flank|IGSF8_ENST00000314485.7_Missense_Mutation_p.W480L			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	480	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.W480L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCGCTCCACCCACCAGCTGGC	0.687																																						uc001fva.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1438-1440)TGG>TTG		immunoglobulin superfamily, member 8							16.0	18.0	18.0					1																	160062359		2191	4291	6482	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160062359C>A	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1439G>T	1.37:g.160062359C>A	ENSP00000357065:p.Trp480Leu					IGSF8_uc001fuz.2_Missense_Mutation_p.W480L|IGSF8_uc009wtf.2_Missense_Mutation_p.W480L	p.W480L	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		5	1484	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		480			Ig-like C2-type 4.|Extracellular (Potential).		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.1439G>T	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969602	0.34754	.	.	ENSG00000162729	ENST00000314485;ENST00000368086	T;T	0.19669	2.13;2.13	2.98	2.98	0.34508	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.286913	0.23824	U	0.044220	T	0.08403	0.0209	L	0.52573	1.65	0.41608	D	0.988898	B	0.09022	0.002	B	0.06405	0.002	T	0.07462	-1.0771	10	0.16896	T	0.51	-8.6545	12.772	0.57426	0.0:1.0:0.0:0.0	.	480	Q969P0	IGSF8_HUMAN	L	480	ENSP00000316664:W480L;ENSP00000357065:W480L	ENSP00000316664:W480L	W	-	2	0	IGSF8	158328983	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.629000	0.67798	1.475000	0.48197	0.462000	0.41574	TGG		PASS	0.687	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		16	22	16	22	---	---	---	---
DCAF8	50717	broad.mit.edu	37	1	160207000	160207000	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:160207000G>C	ENST00000368073.3	-	6	1318	c.884C>G	c.(883-885)tCt>tGt	p.S295C	DCAF8_ENST00000608310.1_Missense_Mutation_p.S449C|DCAF8_ENST00000556710.1_Missense_Mutation_p.S449C|DCAF8_ENST00000326837.2_Missense_Mutation_p.S295C|DCAF8_ENST00000368074.1_Missense_Mutation_p.S295C			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	295					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S449C(1)|p.S295C(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						CGTACAGGGAGAGTCTGGTTC	0.408																																						uc001fvo.2																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(883-885)TCT>TGT		DDB1 and CUL4 associated factor 8							62.0	56.0	58.0					1																	160207000		2202	4294	6496	SO:0001583	missense	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160207000G>C	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.884C>G	1.37:g.160207000G>C	ENSP00000357052:p.Ser295Cys					DCAF8_uc001fvn.2_Missense_Mutation_p.S295C|DCAF8_uc009wth.2_Missense_Mutation_p.S295C|DCAF8_uc010pjb.1_Missense_Mutation_p.S295C|DCAF8_uc010pjc.1_Missense_Mutation_p.S449C|uc010pjd.1_5'Flank	p.S295C	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN			6	1196	-			295			WD 3.		D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	c.884C>G	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579866	0.86645	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000556710	D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	U	0.000001	D	0.90937	0.7151	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.993;0.99	D	0.91561	0.5264	10	0.72032	D	0.01	-1.2927	18.4784	0.90802	0.0:0.0:1.0:0.0	.	449;295	G3V3G9;Q5TAQ9	.;DCAF8_HUMAN	C	295;295;295;449;276;449	ENSP00000357052:S295C;ENSP00000318227:S295C;ENSP00000357053:S295C;ENSP00000451989:S449C;ENSP00000451235:S449C	ENSP00000318227:S295C	S	-	2	0	RP11-574F21.3;DCAF8	158473624	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.548000	0.90669	2.654000	0.90174	0.563000	0.77884	TCT		PASS	0.408	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726		5	9	5	9	---	---	---	---
USP21	27005	broad.mit.edu	37	1	161130911	161130911	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:161130911G>T	ENST00000289865.8	+	2	702	c.481G>T	c.(481-483)Ggg>Tgg	p.G161W	RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368002.3_Missense_Mutation_p.G161W|USP21_ENST00000368001.1_Missense_Mutation_p.G161W	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	161					histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G161W(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCGCCGCCTAGGGGGCTTTCC	0.642																																						uc010pke.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|prostate(1)|breast(1)	5						c.(481-483)GGG>TGG		ubiquitin-specific protease 21							53.0	54.0	53.0					1																	161130911		2203	4300	6503	SO:0001583	missense	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161130911G>T	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.481G>T	1.37:g.161130911G>T	ENSP00000289865:p.Gly161Trp					USP21_uc010pkc.1_Missense_Mutation_p.G161W|USP21_uc010pkd.1_Missense_Mutation_p.G161W|USP21_uc010pkf.1_Missense_Mutation_p.G161W	p.G161W	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		3	858	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		161					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	c.481G>T	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374313	0.42105	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.45276	0.9;0.9;0.9	4.89	4.89	0.63831	.	0.433672	0.22106	N	0.064552	T	0.21347	0.0514	N	0.08118	0	0.30866	N	0.732972	D	0.63046	0.992	P	0.59595	0.86	T	0.08638	-1.0712	10	0.39692	T	0.17	.	6.8965	0.24259	0.0918:0.1781:0.7301:0.0	.	161	Q9UK80	UBP21_HUMAN	W	161	ENSP00000356981:G161W;ENSP00000289865:G161W;ENSP00000356980:G161W	ENSP00000289865:G161W	G	+	1	0	USP21	159397535	0.996000	0.38824	0.968000	0.41197	0.976000	0.68499	2.831000	0.48144	2.538000	0.85594	0.462000	0.41574	GGG		PASS	0.642	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			27	43	27	43	---	---	---	---
FCGR3A	2214	broad.mit.edu	37	1	161600845	161600845	+	Splice_Site	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:161600845C>T	ENST00000540048.1	-	1	72	c.40G>A	c.(40-42)Gtt>Att	p.V14I	FCGR3B_ENST00000294800.3_Splice_Site_p.V14I|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000531221.1_Splice_Site_p.V50I|FCGR2B_ENST00000367960.5_Intron|FCGR3B_ENST00000367964.2_Splice_Site_p.V14I			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	14					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V14I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTGACTTACCTAGAAGTAGC	0.532																																						uc009wul.2																			1	Substitution - Missense(1)		lung(1)		0						c.(40-42)GTT>ATT		low affinity immunoglobulin gamma Fc region	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						69.0	70.0	70.0					1																	161600845		2190	4297	6487	SO:0001630	splice_region_variant	2215				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	g.chr1:161600845C>T	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.40+1G>A	1.37:g.161600845C>T							p.V14I	NM_000570	NP_000561	O75015	FCG3B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	314	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		14					A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37	c.40G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.99|12.99	2.104591|2.104591	0.37145|0.37145	.|.	.|.	ENSG00000162747|ENSG00000203747;ENSG00000162747;ENSG00000162747;ENSG00000162747	ENST00000421702|ENST00000540048;ENST00000367964;ENST00000294800;ENST00000531221	.|T;T;T;T	.|0.01584	.|4.75;4.79;4.79;4.89	2.66|2.66	1.71|1.71	0.24356|0.24356	.|.	.|2.214750	.|0.02035	.|N	.|0.048838	T|T	0.00875|0.00875	0.0029|0.0029	M|M	0.65975|0.65975	2.015|2.015	0.21020|0.21020	N|N	0.999804|0.999804	.|P	.|0.39665	.|0.682	.|B	.|0.30855	.|0.121	T|T	0.48636|0.48636	-0.9018|-0.9018	5|9	.|.	.|.	.|.	.|.	5.4055|5.4055	0.16318|0.16318	0.0:0.8295:0.0:0.1705|0.0:0.8295:0.0:0.1705	.|.	.|14	.|O75015	.|FCG3B_HUMAN	N|I	35|14;14;14;50	.|ENSP00000444971:V14I;ENSP00000356941:V14I;ENSP00000294800:V14I;ENSP00000433642:V50I	.|.	S|V	-|-	2|1	0|0	FCGR3B|FCGR3A;FCGR3B	159867469|159867469	0.918000|0.918000	0.31147|0.31147	0.949000|0.949000	0.38748|0.38748	0.185000|0.185000	0.23345|0.23345	1.652000|1.652000	0.37313|0.37313	0.441000|0.441000	0.26529|0.26529	0.393000|0.393000	0.25936|0.25936	AGT|GTT		PASS	0.532	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569	Missense_Mutation	23	45	23	45	---	---	---	---
TADA1	117143	broad.mit.edu	37	1	166829463	166829463	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:166829463G>A	ENST00000367874.4	-	6	745	c.652C>T	c.(652-654)Ctg>Ttg	p.L218L	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	218					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.L218L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						CTATTCTTCAGGTATGGCTGC	0.373																																						uc001gdw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(652-654)CTG>TTG		transcriptional adaptor 1-like							102.0	95.0	98.0					1																	166829463		2203	4300	6503	SO:0001819	synonymous_variant	117143				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr1:166829463G>A	BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.652C>T	1.37:g.166829463G>A						TADA1_uc001gdv.2_Silent_p.L76L	p.L218L	NM_053053	NP_444281	Q96BN2	TADA1_HUMAN			6	836	-			218					A8K4J9	Silent	SNP	ENST00000367874.4	37	c.652C>T	CCDS1255.1																																																																																				PASS	0.373	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053		23	51	23	51	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167095787	167095787	+	Silent	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:167095787G>T	ENST00000361200.2	+	6	1585	c.1419G>T	c.(1417-1419)tcG>tcT	p.S473S	DUSP27_ENST00000271385.5_Silent_p.S473S|DUSP27_ENST00000443333.1_Silent_p.S473S|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	473					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S473S(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						CGATGTCCTCGGAGAGCACCT	0.647																																						uc001geb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1417-1419)TCG>TCT		dual specificity phosphatase 27							26.0	26.0	26.0					1																	167095787		2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095787G>T	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.1419G>T	1.37:g.167095787G>T							p.S473S	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	1419	+			473					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.1419G>T	CCDS30932.1																																																																																				PASS	0.647	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		15	27	15	27	---	---	---	---
SELP	6403	broad.mit.edu	37	1	169562848	169562848	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:169562848T>C	ENST00000263686.6	-	14	2439	c.2402A>G	c.(2401-2403)cAa>cGa	p.Q801R	SELP_ENST00000367793.2_Missense_Mutation_p.Q739R|SELP_ENST00000367786.2_Missense_Mutation_p.Q739R|SELP_ENST00000367792.2_Missense_Mutation_p.Q617R|SELP_ENST00000458599.2_Missense_Mutation_p.Q617R|SELP_ENST00000367788.2_Missense_Mutation_p.Q739R|SELP_ENST00000367794.2_Missense_Mutation_p.Q739R|SELP_ENST00000367791.2_Missense_Mutation_p.Q615R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	801					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.Q801R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TTTACCTTTTTGTCTGAAACG	0.423																																						uc001ggi.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(2401-2403)CAA>CGA		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						70.0	69.0	69.0					1																	169562848		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169562848T>C	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.2402A>G	1.37:g.169562848T>C	ENSP00000263686:p.Gln801Arg					SELP_uc001ggh.2_Intron|SELP_uc009wvr.2_Missense_Mutation_p.Q800R	p.Q801R	NM_003005	NP_002996	P16109	LYAM3_HUMAN			14	2467	-	all_hematologic(923;0.208)		801			Cytoplasmic (Potential).		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.2402A>G	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	T	9.276	1.047012	0.19748	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T	0.24908	2.38;2.17;1.89;1.83;2.03;2.17;1.89	5.62	1.95	0.26073	.	0.452872	0.20860	N	0.084374	T	0.04724	0.0128	L	0.38531	1.155	0.19300	N	0.999976	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.003	T	0.43196	-0.9406	10	0.08837	T	0.75	-5.9181	6.4915	0.22117	0.0:0.312:0.0:0.688	.	800;801	Q6NUL9;P16109	.;LYAM3_HUMAN	R	615;801;800;617;801;739;739;617;615;739;739;724	ENSP00000263686:Q801R;ENSP00000356767:Q739R;ENSP00000356768:Q739R;ENSP00000356766:Q617R;ENSP00000356765:Q615R;ENSP00000356762:Q739R;ENSP00000356760:Q739R	ENSP00000263686:Q801R	Q	-	2	0	SELP	167829472	0.616000	0.27035	0.971000	0.41717	0.942000	0.58702	-0.082000	0.11304	0.372000	0.24591	-0.263000	0.10527	CAA		PASS	0.423	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		28	57	28	57	---	---	---	---
RABGAP1L	9910	broad.mit.edu	37	1	174274239	174274239	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:174274239C>T	ENST00000251507.4	+	11	1613	c.1439C>T	c.(1438-1440)tCa>tTa	p.S480L	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.S443L|RABGAP1L_ENST00000367689.3_Missense_Mutation_p.S127L	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.S480L(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GGTCCAATGTCACCCCAGGAT	0.468																																						uc001gjx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|kidney(1)	4						c.(1438-1440)TCA>TTA		RAB GTPase activating protein 1-like isoform A							85.0	72.0	76.0					1																	174274239		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174274239C>T	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1439C>T	1.37:g.174274239C>T	ENSP00000251507:p.Ser480Leu					RABGAP1L_uc009wwq.1_Missense_Mutation_p.S492L|RABGAP1L_uc001gjw.2_Missense_Mutation_p.S443L|RABGAP1L_uc001gjy.2_Missense_Mutation_p.S148L|RABGAP1L_uc001gjz.2_Missense_Mutation_p.S127L	p.S480L	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN			11	1634	+			480					B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.1439C>T	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293067	0.60086	.	.	ENSG00000152061	ENST00000357444;ENST00000367689;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.33	5.33	0.75918	.	0.148616	0.46758	D	0.000270	T	0.67711	0.2922	L	0.45581	1.43	0.80722	D	1	B;B;P;P;B	0.42203	0.041;0.016;0.773;0.773;0.055	B;B;B;B;B	0.43867	0.013;0.005;0.434;0.434;0.02	T	0.64651	-0.6357	10	0.23891	T	0.37	.	15.7623	0.78096	0.0:1.0:0.0:0.0	.	492;127;480;480;443	B7WPG6;Q5JZA9;F1LJ00;Q5R372;Q5R372-2	.;.;.;RBG1L_HUMAN;.	L	443;127;480;492;492	ENSP00000350027:S443L;ENSP00000356662:S127L;ENSP00000251507:S480L;ENSP00000403136:S492L	ENSP00000251507:S480L	S	+	2	0	RABGAP1L	172540862	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.542000	0.60677	2.480000	0.83734	0.655000	0.94253	TCA		PASS	0.468	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		39	29	39	29	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176564578	176564578	+	Missense_Mutation	SNP	G	G	A	rs571958730		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:176564578G>A	ENST00000367662.3	+	3	3002	c.1838G>A	c.(1837-1839)cGc>cAc	p.R613H	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R613H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	613	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R613H(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTGACTGCCGCCTGCAGGGC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		19392	0.0		0.0	False		,,,				2504	0.001					uc001gkz.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1837-1839)CGC>CAC		pappalysin 2 isoform 1							70.0	76.0	74.0					1																	176564578		2099	4225	6324	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564578G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1838G>A	1.37:g.176564578G>A	ENSP00000356634:p.Arg613His					PAPPA2_uc001gky.1_Missense_Mutation_p.R613H|PAPPA2_uc009www.2_RNA	p.R613H	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	3002	+			613			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1838G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077286	0.76415	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	D;D	0.91464	-2.85;-2.85	5.42	5.42	0.78866	Notch domain (2);	0.362810	0.29660	N	0.011526	D	0.92838	0.7722	L	0.34521	1.04	0.40769	D	0.983078	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.98	D	0.93907	0.7193	10	0.72032	D	0.01	-23.4467	18.8444	0.92198	0.0:0.0:1.0:0.0	.	613;613	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	H	613	ENSP00000356634:R613H;ENSP00000356633:R613H	ENSP00000356633:R613H	R	+	2	0	PAPPA2	174831201	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.924000	0.63418	2.542000	0.85734	0.650000	0.86243	CGC		PASS	0.587	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			43	57	43	57	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176762746	176762746	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:176762746C>A	ENST00000367662.3	+	20	6235	c.5071C>A	c.(5071-5073)Cta>Ata	p.L1691I		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1691	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L1691I(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCCGTGATGCTACCTGAGAA	0.483																																						uc001gkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(5071-5073)CTA>ATA		pappalysin 2 isoform 1							176.0	175.0	175.0					1																	176762746		1995	4168	6163	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176762746C>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5071C>A	1.37:g.176762746C>A	ENSP00000356634:p.Leu1691Ile					PAPPA2_uc009www.2_RNA	p.L1691I	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			20	6235	+			1691			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.5071C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145297	0.57044	.	.	ENSG00000116183	ENST00000367662	T	0.02015	4.5	5.17	4.26	0.50523	.	0.000000	0.64402	D	0.000004	T	0.11537	0.0281	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.00266	-1.1864	10	0.72032	D	0.01	-8.9738	10.7353	0.46122	0.0:0.9095:0.0:0.0905	.	1691	Q9BXP8	PAPP2_HUMAN	I	1691	ENSP00000356634:L1691I	ENSP00000356634:L1691I	L	+	1	2	PAPPA2	175029369	0.998000	0.40836	0.114000	0.21550	0.541000	0.35023	3.861000	0.56002	1.173000	0.42796	0.655000	0.94253	CTA		PASS	0.483	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			63	100	63	100	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176857303	176857303	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:176857303G>T	ENST00000367654.3	-	18	3213	c.3002C>A	c.(3001-3003)tCa>tAa	p.S1001*	ASTN1_ENST00000367657.3_Nonsense_Mutation_p.S993*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.S993*|ASTN1_ENST00000424564.2_Nonsense_Mutation_p.S993*	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1001					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.S993*(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCAGTCCCTGAGCACCAGAG	0.537																																						uc001glc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2977-2979)TCA>TAA		astrotactin isoform 1							107.0	93.0	98.0					1																	176857303		2203	4300	6503	SO:0001587	stop_gained	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176857303G>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3002C>A	1.37:g.176857303G>T	ENSP00000356626:p.Ser1001*					ASTN1_uc001glb.1_Nonsense_Mutation_p.S993*|ASTN1_uc001gld.1_Nonsense_Mutation_p.S993*	p.S993*	NM_004319	NP_004310	O14525	ASTN1_HUMAN			18	3190	-			1001					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Nonsense_Mutation	SNP	ENST00000367654.3	37	c.2978C>A		.	.	.	.	.	.	.	.	.	.	G	41	8.758674	0.98943	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4	19.6763	0.95934	0.0:0.0:1.0:0.0	.	.	.	.	X	993;993;1001;993;993	.	ENSP00000354536:S993X	S	-	2	0	ASTN1	175123926	1.000000	0.71417	0.991000	0.47740	0.929000	0.56500	9.292000	0.96076	2.744000	0.94065	0.585000	0.79938	TCA		PASS	0.537	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		38	44	38	44	---	---	---	---
SOAT1	6646	broad.mit.edu	37	1	179306981	179306981	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:179306981A>T	ENST00000367619.3	+	5	482	c.339A>T	c.(337-339)agA>agT	p.R113S	SOAT1_ENST00000539888.1_Missense_Mutation_p.R48S|SOAT1_ENST00000540564.1_Missense_Mutation_p.R55S|SOAT1_ENST00000535686.1_5'UTR	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	113					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)	p.R113S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GGGATTTGAGAGCACCTCCAG	0.303																																						uc001gml.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(337-339)AGA>AGT		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						84.0	84.0	84.0					1																	179306981		2202	4300	6502	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179306981A>T	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.339A>T	1.37:g.179306981A>T	ENSP00000356591:p.Arg113Ser					SOAT1_uc010pni.1_Missense_Mutation_p.R48S|SOAT1_uc001gmm.2_Missense_Mutation_p.R55S|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_Missense_Mutation_p.R48S	p.R113S	NM_003101	NP_003092	P35610	SOAT1_HUMAN			5	402	+			113					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.339A>T	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.771192	0.49680	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000367619;ENST00000426956	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.81	3.3	0.37823	.	0.137309	0.64402	D	0.000003	T	0.14960	0.0361	L	0.55834	1.745	0.80722	D	1	B;B	0.20887	0.044;0.049	B;B	0.15484	0.013;0.01	T	0.05699	-1.0869	10	0.40728	T	0.16	-7.1502	6.4403	0.21847	0.7672:0.0:0.2328:0.0	.	55;113	A8K3P4;P35610	.;SOAT1_HUMAN	S	48;55;113;113	ENSP00000441356:R48S;ENSP00000445315:R55S;ENSP00000356591:R113S;ENSP00000411309:R113S	ENSP00000356591:R113S	R	+	3	2	SOAT1	177573604	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	1.654000	0.37334	0.518000	0.28383	0.482000	0.46254	AGA		PASS	0.303	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		30	33	30	33	---	---	---	---
CEP350	9857	broad.mit.edu	37	1	180003020	180003020	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:180003020C>G	ENST00000367607.3	+	16	4167	c.3749C>G	c.(3748-3750)tCt>tGt	p.S1250C		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1250	Ser-rich.				microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S1250C(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAGGGAAGATCTCAGAAAACT	0.378																																						uc001gnt.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(3748-3750)TCT>TGT		centrosome-associated protein 350							93.0	90.0	91.0					1																	180003020		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180003020C>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3749C>G	1.37:g.180003020C>G	ENSP00000356579:p.Ser1250Cys					CEP350_uc009wxl.2_Missense_Mutation_p.S1249C|CEP350_uc001gnu.2_Missense_Mutation_p.S1083C	p.S1250C	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			16	4132	+			1250			Ser-rich.		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.3749C>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086930	0.76642	.	.	ENSG00000135837	ENST00000367607	T	0.59772	0.24	5.13	5.13	0.70059	.	0.000000	0.44688	D	0.000431	T	0.66470	0.2792	L	0.32530	0.975	0.41386	D	0.987589	D;D	0.89917	0.999;1.0	D;D	0.83275	0.993;0.996	T	0.64198	-0.6464	9	.	.	.	.	16.7113	0.85386	0.0:1.0:0.0:0.0	.	1250;1250	E7EU22;Q5VT06	.;CE350_HUMAN	C	1250	ENSP00000356579:S1250C	.	S	+	2	0	CEP350	178269643	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.941000	0.63540	2.550000	0.86006	0.453000	0.30009	TCT		PASS	0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		43	89	43	89	---	---	---	---
PTGS2	5743	broad.mit.edu	37	1	186645691	186645691	+	Missense_Mutation	SNP	C	C	A	rs148160346		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:186645691C>A	ENST00000367468.5	-	7	1014	c.878G>T	c.(877-879)cGg>cTg	p.R293L	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	293					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.R293L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	GTTGTGTTCCCGCAGCCAGAT	0.502																																						uc001gsb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(877-879)CGG>CTG		prostaglandin-endoperoxide synthase 2 precursor	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						144.0	132.0	136.0					1																	186645691		2203	4300	6503	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186645691C>A	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.878G>T	1.37:g.186645691C>A	ENSP00000356438:p.Arg293Leu					PTGS2_uc009wyo.2_Missense_Mutation_p.R140L	p.R293L	NM_000963	NP_000954	P35354	PGH2_HUMAN			7	1015	-			293					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.878G>T	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214936	0.95104	.	.	ENSG00000073756	ENST00000367468	T	0.81163	-1.46	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.93690	0.7984	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.968;1.0	D	0.95450	0.8533	10	0.87932	D	0	-21.2931	19.4407	0.94820	0.0:1.0:0.0:0.0	.	293;293	Q8IZA9;P35354	.;PGH2_HUMAN	L	293	ENSP00000356438:R293L	ENSP00000356438:R293L	R	-	2	0	PTGS2	184912314	0.997000	0.39634	0.982000	0.44146	0.787000	0.44495	7.627000	0.83176	2.586000	0.87340	0.650000	0.86243	CGG		PASS	0.502	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		40	84	40	84	---	---	---	---
RGS21	431704	broad.mit.edu	37	1	192316463	192316463	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:192316463C>A	ENST00000417209.2	+	3	206	c.32C>A	c.(31-33)cCa>cAa	p.P11Q		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	11					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.P11Q(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TACAGGTCACCAACTGCGGAA	0.318																																						uc001gsh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(31-33)CCA>CAA		regulator of G-protein signaling 21							137.0	133.0	134.0					1																	192316463		1864	4113	5977	SO:0001583	missense	431704				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192316463C>A	AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"""Regulators of G-protein signaling"""	26839	protein-coding gene	gene with protein product		612407	"""regulator of G-protein signalling 21"""			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.32C>A	1.37:g.192316463C>A	ENSP00000428343:p.Pro11Gln						p.P11Q	NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN			3	206	+			11						Missense_Mutation	SNP	ENST00000417209.2	37	c.32C>A	CCDS41448.1	.	.	.	.	.	.	.	.	.	.	C	6.266	0.417261	0.11870	.	.	ENSG00000253148	ENST00000417209	T	0.43294	0.95	6.08	5.17	0.71159	Regulator of G protein signalling superfamily (1);	1.740310	0.05098	N	0.486524	T	0.39886	0.1095	N	0.21617	0.685	0.20403	N	0.999908	B	0.22211	0.066	B	0.26614	0.071	T	0.48927	-0.8991	10	0.72032	D	0.01	.	14.9045	0.70709	0.2589:0.7411:0.0:0.0	.	11	Q2M5E4	RGS21_HUMAN	Q	11	ENSP00000428343:P11Q	ENSP00000428343:P11Q	P	+	2	0	RGS21	190583086	0.262000	0.24073	0.946000	0.38457	0.065000	0.16274	1.429000	0.34903	0.914000	0.36822	-1.378000	0.01179	CCA		PASS	0.318	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086387.2			72	158	72	158	---	---	---	---
UCHL5	51377	broad.mit.edu	37	1	193028383	193028383	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:193028383C>A	ENST00000367455.4	-	1	243	c.8G>T	c.(7-9)gGc>gTc	p.G3V	TROVE2_ENST00000367446.3_5'Flank|UCHL5_ENST00000530098.2_5'UTR|UCHL5_ENST00000367449.1_Missense_Mutation_p.G3V|TROVE2_ENST00000400968.2_5'Flank|UCHL5_ENST00000367448.1_Missense_Mutation_p.G3V|TROVE2_ENST00000432079.1_5'Flank|UCHL5_ENST00000483156.1_5'Flank|UCHL5_ENST00000367454.1_Missense_Mutation_p.G3V|TROVE2_ENST00000416058.2_5'Flank|TROVE2_ENST00000367445.3_5'Flank|snoU109_ENST00000458806.1_RNA|UCHL5_ENST00000367451.4_Missense_Mutation_p.G3V|TROVE2_ENST00000367443.1_5'Flank|TROVE2_ENST00000367444.3_5'Flank|UCHL5_ENST00000367452.4_Intron	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	3					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|forebrain morphogenesis (GO:0048853)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein deubiquitination (GO:0016579)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	endopeptidase inhibitor activity (GO:0004866)|omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|proteasome binding (GO:0070628)|ubiquitin-specific protease activity (GO:0004843)	p.G3V(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						CCCGGCATTGCCCGTCATGGC	0.672																																						uc001gsm.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(7-9)GGC>GTC		ubiquitin carboxyl-terminal hydrolase L5							41.0	42.0	42.0					1																	193028383		2203	4300	6503	SO:0001583	missense	51377				DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:193028383C>A		CCDS1378.1, CCDS55668.1, CCDS55669.1, CCDS55670.1	1q32	2011-07-06			ENSG00000116750	ENSG00000116750		"""INO80 complex subunits"""	19678	protein-coding gene	gene with protein product	"""INO80 complex subunit R"""	610667				10810093, 16027725	Standard	NM_015984		Approved	UCH37, CGI-70, INO80R	uc001gsm.3	Q9Y5K5	OTTHUMG00000035561	ENST00000367455.4:c.8G>T	1.37:g.193028383C>A	ENSP00000356425:p.Gly3Val					UCHL5_uc001gsn.2_RNA|UCHL5_uc001gso.2_Missense_Mutation_p.G3V|UCHL5_uc010pov.1_RNA|UCHL5_uc001gsp.2_Missense_Mutation_p.G3V|UCHL5_uc001gsq.2_Missense_Mutation_p.G3V|UCHL5_uc010pow.1_Intron|UCHL5_uc010pox.1_5'UTR|UCHL5_uc001gsr.1_3'UTR|TROVE2_uc001gst.1_5'Flank|TROVE2_uc001gss.2_5'Flank|TROVE2_uc001gsu.1_5'Flank|TROVE2_uc001gsv.1_5'Flank|TROVE2_uc001gsw.2_5'Flank|TROVE2_uc009wyp.2_5'Flank|TROVE2_uc009wyq.2_5'Flank	p.G3V	NM_015984	NP_057068	Q9Y5K5	UCHL5_HUMAN			1	139	-			3					Q5LJA6|Q5LJA7|Q8TBS4|Q96BJ9|Q9H1W5|Q9P0I3|Q9UQN2	Missense_Mutation	SNP	ENST00000367455.4	37	c.8G>T	CCDS1378.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595772	0.66219	.	.	ENSG00000116750	ENST00000367455;ENST00000367454;ENST00000367450;ENST00000367451;ENST00000367448;ENST00000367449	T;T;T;T;T;T	0.63913	-0.04;-0.04;-0.06;-0.07;-0.05;-0.04	5.19	3.27	0.37495	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	0.465847	0.25572	N	0.029741	T	0.45276	0.1334	N	0.03608	-0.345	0.80722	D	1	P;P;P;P	0.44734	0.842;0.828;0.778;0.67	B;B;P;B	0.45712	0.413;0.299;0.491;0.389	T	0.54622	-0.8266	10	0.51188	T	0.08	-10.4295	15.1494	0.72684	0.0:0.7317:0.2683:0.0	.	3;3;3;3	Q9Y5K5-2;Q9Y5K5-4;Q9Y5K5-3;Q9Y5K5	.;.;.;UCHL5_HUMAN	V	3;3;15;3;3;3	ENSP00000356425:G3V;ENSP00000356424:G3V;ENSP00000356420:G15V;ENSP00000356421:G3V;ENSP00000356418:G3V;ENSP00000356419:G3V	ENSP00000356418:G3V	G	-	2	0	UCHL5	191295006	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	4.553000	0.60753	0.727000	0.32360	0.655000	0.94253	GGC		PASS	0.672	UCHL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086318.3	NM_015984		10	32	10	32	---	---	---	---
CFH	3075	broad.mit.edu	37	1	196642292	196642292	+	Splice_Site	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:196642292G>A	ENST00000359637.2	+	2	305	c.243G>A	c.(241-243)caG>caA	p.Q81Q	CFH_ENST00000367429.4_Splice_Site_p.Q81Q|CFH_ENST00000439155.2_Splice_Site_p.Q81Q|CFH_ENST00000496761.1_3'UTR			P08603	CFAH_HUMAN	complement factor H	144	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.Q81H(1)|p.Q81Q(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGAAATGTCAGAGTAAGTACT	0.318																																						uc001gtj.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	skin(4)|ovary(1)|breast(1)	6						c.(241-243)CAG>CAA		complement factor H isoform a precursor							66.0	69.0	68.0					1																	196642292		2203	4300	6503	SO:0001630	splice_region_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196642292G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.244+1G>A	1.37:g.196642292G>A						CFH_uc001gti.3_Silent_p.Q81Q|CFH_uc009wyw.2_Silent_p.Q81Q|CFH_uc009wyx.2_Silent_p.Q81Q	p.Q81Q	NM_000186	NP_000177	P08603	CFAH_HUMAN			2	483	+			81			Sushi 1.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000359637.2	37	c.243G>A																																																																																					PASS	0.318	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186	Silent	24	52	24	52	---	---	---	---
RABIF	5877	broad.mit.edu	37	1	202850137	202850137	+	Missense_Mutation	SNP	T	T	A	rs376782654		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:202850137T>A	ENST00000367262.3	-	2	377	c.341A>T	c.(340-342)tAt>tTt	p.Y114F		NM_002871.4	NP_002862.2	P47224	MSS4_HUMAN	RAB interacting factor	114					membrane fusion (GO:0061025)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|zinc ion binding (GO:0008270)	p.Y114F(1)		large_intestine(1)|lung(2)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(75;0.166)			CAAGGCCACATAGAAACTGTT	0.493																																						uc001gyl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(340-342)TAT>TTT		RAB-interacting factor							121.0	107.0	112.0					1																	202850137		2203	4300	6503	SO:0001583	missense	5877				cellular membrane fusion|protein transport|small GTPase mediated signal transduction		guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:202850137T>A	S78873	CCDS1428.1	1q32.1	2008-05-14			ENSG00000183155	ENSG00000183155			9797	protein-coding gene	gene with protein product		603417		RASGRF3		9441742, 7619808	Standard	NM_002871		Approved	mss4	uc001gyl.3	P47224	OTTHUMG00000041400	ENST00000367262.3:c.341A>T	1.37:g.202850137T>A	ENSP00000356231:p.Tyr114Phe						p.Y114F	NM_002871	NP_002862	P47224	MSS4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		2	378	-			114					B2R4P4|Q92992	Missense_Mutation	SNP	ENST00000367262.3	37	c.341A>T	CCDS1428.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.748002	0.89663	.	.	ENSG00000183155	ENST00000367262	.	.	.	5.81	4.69	0.59074	Mss4-like (1);Mss4/translationally controlled tumour-associated TCTP (1);	0.000000	0.85682	D	0.000000	T	0.65260	0.2674	M	0.68317	2.08	0.80722	D	1	P	0.49635	0.926	P	0.52217	0.693	T	0.66712	-0.5854	9	0.54805	T	0.06	-35.5257	11.7484	0.51835	0.0:0.0692:0.0:0.9308	.	114	P47224	MSS4_HUMAN	F	114	.	ENSP00000356231:Y114F	Y	-	2	0	RABIF	201116760	1.000000	0.71417	0.992000	0.48379	0.975000	0.68041	5.954000	0.70298	1.037000	0.40024	-0.378000	0.06908	TAT		PASS	0.493	RABIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099183.1			64	76	64	76	---	---	---	---
PPP1R15B	84919	broad.mit.edu	37	1	204379712	204379712	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:204379712C>A	ENST00000367188.4	-	1	1207	c.828G>T	c.(826-828)ccG>ccT	p.P276P	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	276					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.P276P(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			GCCACGAGGCCGGAATGAGTT	0.542																																						uc001hav.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(826-828)CCG>CCT		protein phosphatase 1, regulatory subunit 15B							116.0	119.0	118.0					1																	204379712		2203	4300	6503	SO:0001819	synonymous_variant	84919				regulation of translation			g.chr1:204379712C>A	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.828G>T	1.37:g.204379712C>A							p.P276P	NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	1233	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		276					Q53GQ4|Q658M2|Q6P156|Q96SN1	Silent	SNP	ENST00000367188.4	37	c.828G>T	CCDS1445.1																																																																																				PASS	0.542	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		93	126	93	126	---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204949567	204949567	+	Splice_Site	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:204949567C>T	ENST00000401399.1	+	19	2445	c.2246C>T	c.(2245-2247)aCg>aTg	p.T749M	NFASC_ENST00000513543.1_Splice_Site_p.T745M|NFASC_ENST00000367172.4_Splice_Site_p.T749M|NFASC_ENST00000338515.6_Splice_Site_p.T749M|NFASC_ENST00000360049.4_Splice_Site_p.T745M|NFASC_ENST00000404076.1_Splice_Site_p.T728M|NFASC_ENST00000539706.1_Splice_Site_p.T745M|NFASC_ENST00000404907.1_Splice_Site_p.T745M|NFASC_ENST00000367171.4_Splice_Site_p.T734M|NFASC_ENST00000339876.6_Splice_Site_p.T749M|NFASC_ENST00000338586.6_Splice_Site_p.T749M|NFASC_ENST00000367170.4_Splice_Site_p.T749M|NFASC_ENST00000367169.4_Splice_Site_p.T749M			O94856	NFASC_HUMAN	neurofascin	749	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.T749M(1)|p.T745M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ATCACGTGGACGGTAAGAGGC	0.612																																						uc001hbj.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(2245-2247)ACG>ATG		neurofascin isoform 1 precursor							140.0	101.0	114.0					1																	204949567		2203	4300	6503	SO:0001630	splice_region_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204949567C>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2247+1C>T	1.37:g.204949567C>T						NFASC_uc010pra.1_Missense_Mutation_p.T745M|NFASC_uc001hbi.2_Missense_Mutation_p.T745M|NFASC_uc010prb.1_Missense_Mutation_p.T760M|NFASC_uc010prc.1_Missense_Mutation_p.T316M|NFASC_uc001hbk.1_Missense_Mutation_p.T555M|NFASC_uc001hbl.1_5'Flank	p.T749M	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		20	2574	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		749			Extracellular (Potential).|Fibronectin type-III 2.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.2246C>T	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.716993|4.716993	0.89205|0.89205	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.59364	.|0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.82|5.82	5.82|5.82	0.92795|0.92795	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.53938	.|D	.|0.000051	T|T	0.73799|0.73799	0.3633|0.3633	L|L	0.58510|0.58510	1.815|1.815	0.54753|0.54753	D|D	0.99998|0.99998	.|D;D;D;D;D;P	.|0.76494	.|0.996;0.999;0.99;0.99;0.994;0.915	.|P;D;P;P;P;B	.|0.69142	.|0.868;0.962;0.732;0.732;0.642;0.404	T|T	0.73282|0.73282	-0.4032|-0.4032	5|10	.|0.56958	.|D	.|0.05	.|.	19.7005|19.7005	0.96050|0.96050	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|749;760;745;734;749;745	.|O94856;O94856-11;O94856-8;F8W791;O94856-9;O94856-3	.|NFASC_HUMAN;.;.;.;.;.	C|M	719|749;734;749;749;749;749;760;745;745;749;728;749;745;745;736	.|ENSP00000356140:T749M;ENSP00000356139:T734M;ENSP00000356138:T749M;ENSP00000342128:T749M;ENSP00000344786:T749M;ENSP00000343509:T749M;ENSP00000438614:T745M;ENSP00000353154:T745M;ENSP00000356137:T749M;ENSP00000385676:T728M;ENSP00000385637:T749M;ENSP00000384061:T745M;ENSP00000425908:T745M;ENSP00000415031:T736M	.|ENSP00000295776:T760M	R|T	+|+	1|2	0|0	NFASC|NFASC	203216190|203216190	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	4.367000|4.367000	0.59498|0.59498	2.757000|2.757000	0.94681|0.94681	0.655000|0.655000	0.94253|0.94253	CGC|ACG		PASS	0.612	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	Missense_Mutation	9	21	9	21	---	---	---	---
DSTYK	25778	broad.mit.edu	37	1	205116794	205116794	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:205116794C>T	ENST00000367162.3	-	13	2712	c.2682G>A	c.(2680-2682)ttG>ttA	p.L894L	DSTYK_ENST00000367161.3_Silent_p.L849L|DSTYK_ENST00000367160.4_Silent_p.L553L	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	894	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.L894L(1)|p.L355L(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GAGGCCTCTTCAAGGGGTCGC	0.537																																						uc001hbw.2																			2	Substitution - coding silent(2)		lung(2)	lung(1)	1						c.(2680-2682)TTG>TTA		receptor interacting protein kinase 5 isoform 1							125.0	125.0	125.0					1																	205116794		2203	4300	6503	SO:0001819	synonymous_variant	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205116794C>T	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2682G>A	1.37:g.205116794C>T						DSTYK_uc001hbx.2_Silent_p.L849L	p.L894L	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN			13	2746	-			894			Protein kinase.		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	ENST00000367162.3	37	c.2682G>A	CCDS1451.1																																																																																				PASS	0.537	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		85	156	85	156	---	---	---	---
DSTYK	25778	broad.mit.edu	37	1	205116822	205116822	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:205116822A>G	ENST00000367162.3	-	13	2684	c.2654T>C	c.(2653-2655)aTg>aCg	p.M885T	DSTYK_ENST00000367161.3_Missense_Mutation_p.M840T|DSTYK_ENST00000367160.4_Missense_Mutation_p.M544T	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	885	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.M885T(1)|p.M346T(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						ACAGGCTTCCATCAACTGCCA	0.552																																						uc001hbw.2																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(2653-2655)ATG>ACG		receptor interacting protein kinase 5 isoform 1							115.0	114.0	115.0					1																	205116822		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205116822A>G	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2654T>C	1.37:g.205116822A>G	ENSP00000356130:p.Met885Thr					DSTYK_uc001hbx.2_Missense_Mutation_p.M840T	p.M885T	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN			13	2718	-			885			Protein kinase.		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.2654T>C	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.540312	0.85917	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	T;T;T	0.66280	-0.2;1.94;-0.2	6.0	6.0	0.97389	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.038243	0.85682	D	0.000000	T	0.76557	0.4004	L	0.58354	1.805	0.38264	D	0.941959	D;D	0.76494	0.999;0.985	D;D	0.80764	0.994;0.979	T	0.80369	-0.1411	10	0.72032	D	0.01	-30.8945	16.1662	0.81757	1.0:0.0:0.0:0.0	.	840;885	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	T	544;840;885	ENSP00000356128:M544T;ENSP00000356129:M840T;ENSP00000356130:M885T	ENSP00000356128:M544T	M	-	2	0	DSTYK	203383445	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.932000	0.92897	2.297000	0.77311	0.533000	0.62120	ATG		PASS	0.552	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		69	152	69	152	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207648284	207648284	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:207648284C>T	ENST00000367058.3	+	13	2451	c.2262C>T	c.(2260-2262)ctC>ctT	p.L754L	CR2_ENST00000367059.3_Silent_p.L754L|CR2_ENST00000458541.2_Silent_p.L727L|CR2_ENST00000367057.3_Silent_p.L813L	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	754	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.L813L(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GATTCTATCTCCTGGGAGAGA	0.463																																						uc001hfw.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(2260-2262)CTC>CTT		complement component (3d/Epstein Barr virus)							97.0	107.0	104.0					1																	207648284		2203	4300	6503	SO:0001819	synonymous_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207648284C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2262C>T	1.37:g.207648284C>T						CR2_uc001hfv.2_Silent_p.L813L|CR2_uc009xch.2_Silent_p.L754L	p.L754L	NM_001877	NP_001868	P20023	CR2_HUMAN			13	2356	+			754			Sushi 12.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	37	c.2262C>T	CCDS1478.1																																																																																				PASS	0.463	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		70	101	70	101	---	---	---	---
IRF6	3664	broad.mit.edu	37	1	209968732	209968732	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:209968732C>A	ENST00000367021.3	-	5	583	c.411G>T	c.(409-411)aaG>aaT	p.K137N	IRF6_ENST00000542854.1_Missense_Mutation_p.K42N	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	137					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.K137N(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)		CATCATTATCCTTCTCATCCC	0.542										HNSCC(57;0.16)																												uc001hhq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(409-411)AAG>AAT		interferon regulatory factor 6							256.0	191.0	213.0					1																	209968732		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.chr1:209968732C>A	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.411G>T	1.37:g.209968732C>A	ENSP00000355988:p.Lys137Asn	HNSCC(57;0.16)				IRF6_uc010psm.1_Missense_Mutation_p.K42N|IRF6_uc009xct.1_Missense_Mutation_p.K137N	p.K137N	NM_006147	NP_006138	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	5	674	-			137					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.411G>T	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546539	0.27652	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	D;D;D	0.97791	-4.46;-3.99;-4.54	5.4	1.81	0.25067	.	0.378699	0.32204	N	0.006435	D	0.90335	0.6976	N	0.14661	0.345	0.46631	D	0.999137	B	0.33739	0.422	B	0.24006	0.05	T	0.82824	-0.0266	9	.	.	.	.	4.9303	0.13914	0.1403:0.5896:0.0:0.2701	.	137	O14896	IRF6_HUMAN	N	137;42;137	ENSP00000355988:K137N;ENSP00000440532:K42N;ENSP00000403855:K137N	.	K	-	3	2	IRF6	208035355	0.999000	0.42202	0.948000	0.38648	0.960000	0.62799	0.341000	0.19909	0.059000	0.16252	0.655000	0.94253	AAG		PASS	0.542	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		44	54	44	54	---	---	---	---
TRAF5	7188	broad.mit.edu	37	1	211533358	211533358	+	Nonsense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:211533358T>A	ENST00000261464.5	+	5	537	c.483T>A	c.(481-483)tgT>tgA	p.C161*	TRAF5_ENST00000336184.2_Nonsense_Mutation_p.C161*|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Nonsense_Mutation_p.C161*	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	161					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C161*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		GTGCATCCTGTCAGTTTCGAA	0.423																																						uc001hih.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|breast(2)|ovary(1)	5						c.(481-483)TGT>TGA		TNF receptor-associated factor 5							140.0	130.0	133.0					1																	211533358		2203	4300	6503	SO:0001587	stop_gained	7188				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:211533358T>A	AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.483T>A	1.37:g.211533358T>A	ENSP00000261464:p.Cys161*					TRAF5_uc001hii.2_Nonsense_Mutation_p.C161*|TRAF5_uc010psx.1_Nonsense_Mutation_p.C172*|TRAF5_uc010psy.1_Intron|TRAF5_uc001hij.2_Nonsense_Mutation_p.C161*	p.C161*	NM_004619	NP_004610	O00463	TRAF5_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)	5	543	+			161			TRAF-type 1.		B4DIS9|B4E0A2|Q6FHY1	Nonsense_Mutation	SNP	ENST00000261464.5	37	c.483T>A	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.754389	0.89843	.	.	ENSG00000082512	ENST00000336184;ENST00000261464;ENST00000367004	.	.	.	4.97	-4.55	0.03441	.	0.309092	0.41712	D	0.000835	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5372	13.028	0.58827	0.0:0.1267:0.0:0.8733	.	.	.	.	X	161	.	ENSP00000261464:C161X	C	+	3	2	TRAF5	209599981	0.997000	0.39634	0.818000	0.32626	0.989000	0.77384	0.206000	0.17375	-0.963000	0.03600	0.482000	0.46254	TGT		PASS	0.423	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		47	73	47	73	---	---	---	---
LPGAT1	9926	broad.mit.edu	37	1	212002483	212002483	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:212002483C>T	ENST00000366997.4	-	2	382	c.156G>A	c.(154-156)aaG>aaA	p.K52K	LPGAT1_ENST00000366996.1_Silent_p.K52K|RP11-552D8.1_ENST00000430623.1_RNA|LPGAT1_ENST00000488600.1_5'Flank|RP11-552D8.1_ENST00000446560.1_RNA|RP11-552D8.1_ENST00000457272.1_RNA|RP11-552D8.1_ENST00000429499.1_RNA	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	52					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring acyl groups (GO:0016746)	p.K52K(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		ACCAGAACCGCTTACTGTCCA	0.438																																						uc001hiu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(154-156)AAG>AAA		lysophosphatidylglycerol acyltransferase 1							108.0	104.0	105.0					1																	212002483		2203	4300	6503	SO:0001819	synonymous_variant	9926				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chr1:212002483C>T	D86960	CCDS31018.1	1q32.3	2008-05-14	2004-11-25	2004-11-26	ENSG00000123684	ENSG00000123684			28985	protein-coding gene	gene with protein product		610473	"""family with sequence similarity 34, member A"""	FAM34A		9039502, 15485873	Standard	NM_014873		Approved	KIAA0205, FAM34A1, NET8	uc001hiv.3	Q92604	OTTHUMG00000037120	ENST00000366997.4:c.156G>A	1.37:g.212002483C>T						LPGAT1_uc001hiv.2_Silent_p.K52K	p.K52K	NM_014873	NP_055688	Q92604	LGAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)	2	969	-			52					Q53YL2	Silent	SNP	ENST00000366997.4	37	c.156G>A	CCDS31018.1																																																																																				PASS	0.438	LPGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090150.1	NM_014873		58	90	58	90	---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214811305	214811305	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:214811305T>G	ENST00000366955.3	+	11	1711	c.1543T>G	c.(1543-1545)Tgt>Ggt	p.C515G		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.C515G(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CATCAAACAGTGTTTAAATCA	0.408																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(1543-1545)TGT>GGT		centromere protein F							78.0	81.0	80.0					1																	214811305		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214811305T>G	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1543T>G	1.37:g.214811305T>G	ENSP00000355922:p.Cys515Gly						p.C515G	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	11	1717	+			515			Potential.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.1543T>G	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	T	7.023	0.559180	0.13436	.	.	ENSG00000117724	ENST00000366955	T	0.03212	4.01	5.9	-1.09	0.09904	.	1.042650	0.07634	N	0.929062	T	0.01976	0.0062	.	.	.	0.09310	N	1	P	0.41450	0.75	B	0.34873	0.191	T	0.40683	-0.9550	9	0.24483	T	0.36	.	1.7173	0.02904	0.4543:0.1253:0.1102:0.3103	.	515	P49454	CENPF_HUMAN	G	515	ENSP00000355922:C515G	ENSP00000355922:C515G	C	+	1	0	CENPF	212877928	0.008000	0.16893	0.000000	0.03702	0.484000	0.33280	0.111000	0.15458	-0.451000	0.07097	0.528000	0.53228	TGT		PASS	0.408	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		49	72	49	72	---	---	---	---
KCTD3	51133	broad.mit.edu	37	1	215792322	215792322	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:215792322C>T	ENST00000259154.4	+	16	1951	c.1657C>T	c.(1657-1659)Cgc>Tgc	p.R553C	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	553					protein homooligomerization (GO:0051260)			p.R553C(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AAGACCAAGGCGCTACTTGTT	0.443																																						uc001hks.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1657-1659)CGC>TGC		potassium channel tetramerisation domain							136.0	131.0	133.0					1																	215792322		2203	4300	6503	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215792322C>T	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1657C>T	1.37:g.215792322C>T	ENSP00000259154:p.Arg553Cys					KCTD3_uc001hkt.2_Missense_Mutation_p.R553C|KCTD3_uc010pub.1_Missense_Mutation_p.R451C|KCTD3_uc009xdn.2_Missense_Mutation_p.R277C	p.R553C	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	16	1951	+			553			WD 5.		A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.1657C>T	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491965	0.84962	.	.	ENSG00000136636	ENST00000259154	T	0.51574	0.7	5.6	3.74	0.42951	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	M	0.83774	2.66	0.80722	D	1	P;D;D;D	0.89917	0.953;1.0;0.996;0.998	B;D;P;P	0.87578	0.267;0.998;0.858;0.852	T	0.72554	-0.4258	10	0.87932	D	0	-6.343	12.0951	0.53750	0.0:0.861:0.0:0.139	.	305;305;553;553	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	C	553	ENSP00000259154:R553C	ENSP00000259154:R553C	R	+	1	0	KCTD3	213858945	1.000000	0.71417	0.897000	0.35233	0.952000	0.60782	7.487000	0.81328	0.724000	0.32296	0.650000	0.86243	CGC		PASS	0.443	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		17	120	17	120	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216051223	216051223	+	Splice_Site	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:216051223C>T	ENST00000307340.3	-	43	8945		c.e43-1		USH2A_ENST00000366943.2_Splice_Site	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						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.?(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)		AAGCTCATATCTAAAGCAAAA	0.418										HNSCC(13;0.011)																												uc001hku.1																			1	Unknown(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.e43-1		usherin isoform B							103.0	106.0	105.0					1																	216051223		2203	4300	6503	SO:0001630	splice_region_variant	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.chr1:216051223C>T	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.8559-1G>A	1.37:g.216051223C>T		HNSCC(13;0.011)					p.R2853_splice	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	43	8946	-								Q5VVM9|Q6S362|Q9NS27	Splice_Site	SNP	ENST00000307340.3	37	c.8559_splice	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954576	0.92726	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2626	0.98452	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USH2A	214117846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.270000	0.78493	2.802000	0.96397	0.650000	0.86243	.		PASS	0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	Intron	43	92	43	92	---	---	---	---
MIA3	375056	broad.mit.edu	37	1	222791476	222791476	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:222791476C>T	ENST00000344922.5	+	1	49	c.24C>T	c.(22-24)ctC>ctT	p.L8L	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Silent_p.L8L|MIA3_ENST00000344507.1_Silent_p.L8L	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	8					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L8L(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CTGGGCTGCTCGTCTGGCTGC	0.761																																						uc001hnl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(22-24)CTC>CTT		melanoma inhibitory activity family, member 3							2.0	4.0	3.0					1																	222791476		1574	3534	5108	SO:0001819	synonymous_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222791476C>T		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.24C>T	1.37:g.222791476C>T							p.L8L	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	1	33	+			8					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	c.24C>T	CCDS41470.1																																																																																				PASS	0.761	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		6	9	6	9	---	---	---	---
MIA3	375056	broad.mit.edu	37	1	222803650	222803650	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:222803650T>C	ENST00000344922.5	+	4	3113	c.3088T>C	c.(3088-3090)Tac>Cac	p.Y1030H	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.Y1030H|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1030					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.Y1030H(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TTTTGTCAGGTACAAGCACTC	0.478																																						uc001hnl.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(3088-3090)TAC>CAC		melanoma inhibitory activity family, member 3							147.0	142.0	144.0					1																	222803650		1999	4189	6188	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222803650T>C		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3088T>C	1.37:g.222803650T>C	ENSP00000340900:p.Tyr1030His					MIA3_uc009xea.1_Missense_Mutation_p.Y866H	p.Y1030H	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	3097	+			1030			Extracellular (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.3088T>C	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.15|13.15	2.150928|2.150928	0.37923|0.37923	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000354906|ENST00000344922;ENST00000344441;ENST00000320831	.|T;T	.|0.06294	.|3.32;3.32	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	.|.	.|.	.|.	.|.	T|T	0.20047|0.20047	0.0482|0.0482	M|M	0.73598|0.73598	2.24|2.24	0.23010|0.23010	N|N	0.99844|0.99844	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.76575	.|0.988;0.956	T|T	0.19451|0.19451	-1.0305|-1.0305	5|9	.|0.59425	.|D	.|0.04	.|.	4.5276|4.5276	0.11988|0.11988	0.1846:0.0933:0.0:0.7221|0.1846:0.0933:0.0:0.7221	.|.	.|1030;1030	.|Q5JRA6-2;Q5JRA6	.|.;MIA3_HUMAN	A|H	612|1030	.|ENSP00000340900:Y1030H;ENSP00000340587:Y1030H	.|ENSP00000325973:Y1030H	V|Y	+|+	2|1	0|0	MIA3|MIA3	220870273|220870273	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.281000|0.281000	0.26958|0.26958	3.579000|3.579000	0.53900|0.53900	1.886000|1.886000	0.54624|0.54624	0.379000|0.379000	0.24179|0.24179	GTA|TAC		PASS	0.478	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		38	209	38	209	---	---	---	---
WNT3A	89780	broad.mit.edu	37	1	228238464	228238464	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:228238464C>T	ENST00000284523.1	+	3	499	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	WNT3A_ENST00000366753.2_Missense_Mutation_p.R141C	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	141					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.R141C(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CTGCAGCAGCCGCCACCAGGG	0.652																																						uc001hrq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(421-423)CGC>TGC		wingless-type MMTV integration site family,							64.0	63.0	63.0					1																	228238464		2203	4300	6503	SO:0001583	missense	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.chr1:228238464C>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.421C>T	1.37:g.228238464C>T	ENSP00000284523:p.Arg141Cys					WNT3A_uc001hrp.1_Missense_Mutation_p.R141C	p.R141C	NM_033131	NP_149122	P56704	WNT3A_HUMAN			3	499	+		Prostate(94;0.0405)	141					Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	c.421C>T	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385996	0.82902	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.76709	-1.04;-1.04	4.78	4.78	0.61160	.	0.063235	0.64402	D	0.000004	D	0.87454	0.6181	M	0.81341	2.54	0.80722	D	1	D;D	0.76494	0.995;0.999	P;P	0.62382	0.901;0.892	D	0.89053	0.3457	10	0.56958	D	0.05	.	17.8158	0.88634	0.0:1.0:0.0:0.0	.	141;141	P56704;Q3SY79	WNT3A_HUMAN;.	C	141	ENSP00000284523:R141C;ENSP00000355715:R141C	ENSP00000284523:R141C	R	+	1	0	WNT3A	226305087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.845000	0.69437	2.221000	0.72209	0.591000	0.81541	CGC		PASS	0.652	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		33	102	33	102	---	---	---	---
AGT	183	broad.mit.edu	37	1	230845930	230845930	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:230845930A>G	ENST00000366667.4	-	2	881	c.667T>C	c.(667-669)Ttt>Ctt	p.F223L	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	223					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)	p.F223L(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCCTGCACAAACGGCTGCTTC	0.612																																						uc001hty.3																			1	Substitution - Missense(1)		lung(1)		0						c.(667-669)TTT>CTT		angiotensinogen preproprotein	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						53.0	55.0	55.0					1																	230845930		2203	4300	6503	SO:0001583	missense	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230845930A>G	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.667T>C	1.37:g.230845930A>G	ENSP00000355627:p.Phe223Leu					AGT_uc009xfe.2_Missense_Mutation_p.F223L|AGT_uc009xff.2_Missense_Mutation_p.F195L	p.F223L	NM_000029	NP_000020	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	1175	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	223					Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	37	c.667T>C	CCDS1585.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.344601	0.41498	.	.	ENSG00000135744	ENST00000366667	D	0.94184	-3.37	5.01	3.87	0.44632	Serpin domain (3);	0.050047	0.85682	N	0.000000	D	0.95825	0.8641	M	0.74258	2.255	0.37264	D	0.907118	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.96446	0.9330	10	0.87932	D	0	.	10.7242	0.46057	0.924:0.0:0.076:0.0	.	223;223;223	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	L	223	ENSP00000355627:F223L	ENSP00000355627:F223L	F	-	1	0	AGT	228912553	0.992000	0.36948	0.007000	0.13788	0.013000	0.08279	4.255000	0.58804	0.851000	0.35264	0.482000	0.46254	TTT		PASS	0.612	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		31	87	31	87	---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235377193	235377193	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:235377193G>A	ENST00000264183.3	-	17	2229	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W	ARID4B_ENST00000366603.2_Missense_Mutation_p.R578W|ARID4B_ENST00000349213.3_Intron	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	578					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R578W(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CGTCCATACCGCACTTGGACT	0.443																																						uc001hwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1732-1734)CGG>TGG		AT rich interactive domain 4B isoform 1							297.0	285.0	289.0					1																	235377193		2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235377193G>A	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1732C>T	1.37:g.235377193G>A	ENSP00000264183:p.Arg578Trp					ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Missense_Mutation_p.R259W	p.R578W	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		17	2230	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	578					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.1732C>T	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	G	36	5.890703	0.97074	.	.	ENSG00000054267	ENST00000391856;ENST00000366603;ENST00000264183;ENST00000439834	T;T	0.46451	0.87;0.87	5.5	5.5	0.81552	Chromo domain-like (1);Chromo domain/shadow (1);Tudor domain (1);	0.056918	0.64402	D	0.000001	T	0.60932	0.2307	L	0.46885	1.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.62426	-0.6857	10	0.87932	D	0	-6.2622	19.403	0.94639	0.0:0.0:1.0:0.0	.	259;578	Q4LE39-4;Q4LE39	.;ARI4B_HUMAN	W	578	ENSP00000355562:R578W;ENSP00000264183:R578W	ENSP00000264183:R578W	R	-	1	2	ARID4B	233443816	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.072000	0.76777	2.589000	0.87451	0.650000	0.86243	CGG		PASS	0.443	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		7	324	7	324	---	---	---	---
TBCE	6905	broad.mit.edu	37	1	235602204	235602204	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:235602204A>T	ENST00000366601.3	+	13	1413	c.1237A>T	c.(1237-1239)Aca>Tca	p.T413S	TBCE_ENST00000406207.1_Missense_Mutation_p.T413S|TBCE_ENST00000543662.1_Missense_Mutation_p.T464S|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	413					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)	p.T413S(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			AGAATTCCTCACAGCCCATCC	0.488																																						uc001hwz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1237-1239)ACA>TCA		beta-tubulin cofactor E							121.0	107.0	112.0					1																	235602204		2203	4300	6503	SO:0001583	missense	6905				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	g.chr1:235602204A>T	U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"""tubulin-specific chaperone e"", ""Kenny-Caffey syndrome"", ""hypoparathyroidism, growth and mental retardation, and dysmorphism"""	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.1237A>T	1.37:g.235602204A>T	ENSP00000355560:p.Thr413Ser					TBCE_uc001hxa.1_Missense_Mutation_p.T413S|TBCE_uc010pxr.1_Missense_Mutation_p.T464S|TBCE_uc001hxb.1_Missense_Mutation_p.T300S	p.T413S	NM_003193	NP_003184	Q15813	TBCE_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)		13	1360	+	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	413					A8K8C2|B7Z3P1	Missense_Mutation	SNP	ENST00000366601.3	37	c.1237A>T	CCDS1605.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.694257	0.00731	.	.	ENSG00000116957	ENST00000366601;ENST00000406207;ENST00000543662	T;T;T	0.37235	1.21;1.21;1.21	5.54	2.26	0.28386	.	0.936959	0.09161	N	0.840176	T	0.13543	0.0328	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.34153	-0.9840	10	0.09590	T	0.72	-9.7548	2.6584	0.05019	0.1541:0.1196:0.4685:0.2579	.	464;413;413	B7Z3P1;A8K8C2;Q15813	.;.;TBCE_HUMAN	S	413;413;464	ENSP00000355560:T413S;ENSP00000384571:T413S;ENSP00000439170:T464S	ENSP00000355560:T413S	T	+	1	0	TBCE	233668827	0.000000	0.05858	0.055000	0.19348	0.002000	0.02628	0.722000	0.25925	0.839000	0.34971	-0.177000	0.13119	ACA		PASS	0.488	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096458.3	NM_003193		101	76	101	76	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237580424	237580424	+	Splice_Site	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:237580424G>A	ENST00000366574.2	+	11	1165		c.e11+1		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.?(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAAGAGTTGCGTAAGTAGAAC	0.448																																						uc001hyl.1																			1	Unknown(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.e11+1		cardiac muscle ryanodine receptor							111.0	109.0	110.0					1																	237580424		2054	4221	6275	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237580424G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.848+1G>A	1.37:g.237580424G>A							p.A283_splice	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		11	968	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)						Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37	c.848_splice	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139705	0.94560	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR2	235647047	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.740000	0.98839	2.835000	0.97688	0.650000	0.86243	.		PASS	0.448	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Intron	53	34	53	34	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237777346	237777346	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:237777346G>T	ENST00000366574.2	+	37	5235	c.4918G>T	c.(4918-4920)Gac>Tac	p.D1640Y	RYR2_ENST00000360064.6_Missense_Mutation_p.D1638Y|RYR2_ENST00000542537.1_Missense_Mutation_p.D1624Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1640	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.D1638Y(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGATCTGTTGACATCTTAGA	0.428																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4918-4920)GAC>TAC		cardiac muscle ryanodine receptor							50.0	48.0	48.0					1																	237777346		1878	4115	5993	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777346G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4918G>T	1.37:g.237777346G>T	ENSP00000355533:p.Asp1640Tyr						p.D1640Y	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5038	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1640			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4918G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.453321	0.84209	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97831	-4.56;-4.53;-4.55	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000003	D	0.98538	0.9512	M	0.87180	2.865	0.80722	D	1	D	0.60575	0.988	P	0.55303	0.773	D	0.99513	1.0956	10	0.87932	D	0	.	19.534	0.95242	0.0:0.0:1.0:0.0	.	1640	Q92736	RYR2_HUMAN	Y	1640;1638;1624	ENSP00000355533:D1640Y;ENSP00000353174:D1638Y;ENSP00000443798:D1624Y	ENSP00000353174:D1638Y	D	+	1	0	RYR2	235843969	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.813000	0.99286	2.613000	0.88420	0.655000	0.94253	GAC		PASS	0.428	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		26	78	26	78	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237796898	237796898	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:237796898G>T	ENST00000366574.2	+	43	6893	c.6576G>T	c.(6574-6576)atG>atT	p.M2192I	RYR2_ENST00000360064.6_Missense_Mutation_p.M2190I|RYR2_ENST00000542537.1_Missense_Mutation_p.M2176I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2192	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.M2190I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCCCAAGATGGTGGCCAACT	0.388																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6574-6576)ATG>ATT		cardiac muscle ryanodine receptor							254.0	245.0	248.0					1																	237796898		1877	4103	5980	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237796898G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6576G>T	1.37:g.237796898G>T	ENSP00000355533:p.Met2192Ile						p.M2192I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		43	6696	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2192			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6576G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590172	0.86851	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.94232	-3.38;-3.38;-3.38	4.9	4.9	0.64082	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.93871	0.8039	L	0.39898	1.24	0.80722	D	1	P	0.51057	0.941	P	0.55577	0.779	D	0.94141	0.7397	10	0.52906	T	0.07	-18.8994	18.4443	0.90678	0.0:0.0:1.0:0.0	.	2192	Q92736	RYR2_HUMAN	I	2192;2190;2176	ENSP00000355533:M2192I;ENSP00000353174:M2190I;ENSP00000443798:M2176I	ENSP00000353174:M2190I	M	+	3	0	RYR2	235863521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.754000	0.98908	2.417000	0.82017	0.563000	0.77884	ATG		PASS	0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		103	337	103	337	---	---	---	---
RGS7	6000	broad.mit.edu	37	1	240978014	240978014	+	Splice_Site	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:240978014A>T	ENST00000407727.1	-	11	845		c.e11+1		RGS7_ENST00000366563.1_Splice_Site|RGS7_ENST00000348120.2_Splice_Site|RGS7_ENST00000366564.1_Splice_Site|RGS7_ENST00000446183.2_Splice_Site|RGS7_ENST00000331110.7_Splice_Site|RGS7_ENST00000366562.4_Splice_Site|RGS7_ENST00000401882.1_Splice_Site|RGS7_ENST00000366565.1_Splice_Site			P49802	RGS7_HUMAN	regulator of G-protein signaling 7						G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.?(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGAAATACTCACCTGTCAGCG	0.323																																						uc001hyv.2																			2	Unknown(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.e12+1		regulator of G-protein signaling 7							92.0	94.0	93.0					1																	240978014		2203	4299	6502	SO:0001630	splice_region_variant	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240978014A>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.845+1T>A	1.37:g.240978014A>T						RGS7_uc010pyh.1_Splice_Site_p.S256_splice|RGS7_uc010pyj.1_Splice_Site_p.S198_splice|RGS7_uc001hyu.2_Splice_Site_p.S282_splice|RGS7_uc009xgn.1_Splice_Site_p.S229_splice|RGS7_uc001hyw.2_Splice_Site_p.S282_splice|RGS7_uc001hyt.2_Splice_Site_p.S114_splice	p.S282_splice	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		12	1175	-		all_cancers(173;0.0131)						Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Splice_Site	SNP	ENST00000407727.1	37	c.845_splice		.	.	.	.	.	.	.	.	.	.	A	26.4	4.737820	0.89573	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7905	0.78357	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RGS7	239044637	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.339000	0.96797	2.324000	0.78689	0.533000	0.62120	.		PASS	0.323	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924	Intron	32	114	32	114	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247588866	247588866	+	Silent	SNP	C	C	A	rs200794137		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:247588866C>A	ENST00000336119.3	+	3	2867	c.2121C>A	c.(2119-2121)gtC>gtA	p.V707V	NLRP3_ENST00000391827.2_Silent_p.V707V|NLRP3_ENST00000391828.3_Silent_p.V707V|NLRP3_ENST00000366496.2_Silent_p.V707V|NLRP3_ENST00000366497.2_Silent_p.V707V|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.V707V	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	707					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.V707V(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGCAGTGTGTCCTCCCAAGCT	0.562																																						uc001icr.2																			1	Substitution - coding silent(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2119-2121)GTC>GTA		NLR family, pyrin domain containing 3 isoform a							139.0	125.0	130.0					1																	247588866		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588866C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2121C>A	1.37:g.247588866C>A						NLRP3_uc001ics.2_Silent_p.V707V|NLRP3_uc001icu.2_Silent_p.V707V|NLRP3_uc001icw.2_Silent_p.V707V|NLRP3_uc001icv.2_Silent_p.V707V|NLRP3_uc010pyw.1_Silent_p.V705V|NLRP3_uc001ict.1_Silent_p.V705V	p.V707V	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	2259	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	707					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.2121C>A	CCDS1632.1																																																																																				PASS	0.562	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		63	43	63	43	---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004713	248004713	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:248004713C>T	ENST00000355784.2	-	1	541	c.486G>A	c.(484-486)atG>atA	p.M162I		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	162						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M162I(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACCTGGAAATCATCAGGGAAG	0.557																																						uc001idn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(484-486)ATG>ATA		olfactory receptor, family 11, subfamily L,							89.0	88.0	88.0					1																	248004713		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004713C>T	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.486G>A	1.37:g.248004713C>T	ENSP00000348033:p.Met162Ile						p.M162I	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	486	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		162			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000355784.2	37	c.486G>A	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	6.797	0.516073	0.12944	.	.	ENSG00000197591	ENST00000355784	T	0.00084	8.75	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.170848	0.27451	U	0.019308	T	0.00109	0.0003	N	0.17345	0.48	0.09310	N	1	B	0.12630	0.006	B	0.17098	0.017	T	0.47509	-0.9112	10	0.44086	T	0.13	.	13.3919	0.60829	0.1578:0.8422:0.0:0.0	.	162	Q8NGX0	O11L1_HUMAN	I	162	ENSP00000348033:M162I	ENSP00000348033:M162I	M	-	3	0	OR11L1	246071336	0.000000	0.05858	1.000000	0.80357	0.775000	0.43874	-0.990000	0.03732	2.450000	0.82876	0.543000	0.68304	ATG		PASS	0.557	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		58	131	58	131	---	---	---	---
OR2L2	26246	broad.mit.edu	37	1	248201836	248201836	+	Missense_Mutation	SNP	G	G	T	rs188757148	byFrequency	TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:248201836G>T	ENST00000366479.2	+	1	363	c.267G>T	c.(265-267)aaG>aaT	p.K89N	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K89N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			atggaaacaagtctatctcct	0.413													g|||	2	0.000399361	0.0	0.0	5008	,	,		22922	0.0		0.002	False		,,,				2504	0.0					uc001idw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(265-267)AAG>AAT		olfactory receptor, family 2, subfamily L,		G	ASN/LYS,	2,4404		0,2,2201	184.0	169.0	174.0		267,	-0.4	0.7	1		174	0,8600		0,0,4300	yes	missense,intron	OR2L2,OR2L13	NM_001004686.2,NM_175911.2	94,	0,2,6501	TT,TG,GG		0.0,0.0454,0.0154	benign,	89/313,	248201836	2,13004	2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201836G>T	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.267G>T	1.37:g.248201836G>T	ENSP00000355435:p.Lys89Asn					OR2L13_uc001ids.2_Intron	p.K89N	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	363	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		89			Extracellular (Potential).		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.267G>T	CCDS31103.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	.	7.652	0.683047	0.14907	4.54E-4	0.0	ENSG00000203663	ENST00000366479	T	0.38240	1.15	1.9	-0.451	0.12214	GPCR, rhodopsin-like superfamily (1);	0.243411	0.21072	U	0.080648	T	0.26738	0.0654	L	0.51914	1.62	0.09310	N	1	B	0.24043	0.096	B	0.24974	0.057	T	0.17107	-1.0380	10	0.36615	T	0.2	.	6.5627	0.22495	0.0:0.3249:0.5062:0.1689	.	89	Q8NH16	OR2L2_HUMAN	N	89	ENSP00000355435:K89N	ENSP00000355435:K89N	K	+	3	2	OR2L2	246268459	0.000000	0.05858	0.743000	0.31040	0.112000	0.19704	-4.885000	0.00174	0.897000	0.36392	0.194000	0.17425	AAG		PASS	0.413	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		78	259	78	259	---	---	---	---
OR2M3	127062	broad.mit.edu	37	1	248367125	248367125	+	Nonsense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:248367125T>A	ENST00000456743.1	+	1	794	c.756T>A	c.(754-756)taT>taA	p.Y252*		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y252*(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GAATGTACTATGGAGCAGCTT	0.493																																						uc010pzg.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(754-756)TAT>TAA		olfactory receptor, family 2, subfamily M,							221.0	204.0	210.0					1																	248367125		2203	4300	6503	SO:0001587	stop_gained	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367125T>A		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.756T>A	1.37:g.248367125T>A	ENSP00000389625:p.Tyr252*						p.Y252*	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	756	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		252			Helical; Name=6; (Potential).		B9EH06|Q6IEY0	Nonsense_Mutation	SNP	ENST00000456743.1	37	c.756T>A	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.532096	0.45073	.	.	ENSG00000228198	ENST00000456743	.	.	.	2.54	-2.5	0.06384	.	0.311210	0.17654	U	0.166586	.	.	.	.	.	.	0.51012	D	0.999907	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3665	0.16117	0.1502:0.4715:0.0:0.3783	.	.	.	.	X	252	.	ENSP00000389625:Y252X	Y	+	3	2	OR2M3	246433748	0.000000	0.05858	0.001000	0.08648	0.097000	0.18754	-0.408000	0.07169	-0.675000	0.05246	0.327000	0.21459	TAT		PASS	0.493	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		234	162	234	162	---	---	---	---
OR2T6	254879	broad.mit.edu	37	1	248550956	248550956	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:248550956G>C	ENST00000355728.2	+	1	47	c.47G>C	c.(46-48)gGg>gCg	p.G16A		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G16A(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCCTCATGGGGCTCTTCACT	0.423																																						uc001iei.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(46-48)GGG>GCG		olfactory receptor, family 2, subfamily T,							133.0	131.0	132.0					1																	248550956		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248550956G>C	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.47G>C	1.37:g.248550956G>C	ENSP00000347965:p.Gly16Ala						p.G16A	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	47	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		16			Extracellular (Potential).		A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.47G>C	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227581	0.58668	.	.	ENSG00000198104	ENST00000355728	T	0.20738	2.05	4.9	4.9	0.64082	.	0.000000	0.45867	D	0.000322	T	0.52386	0.1731	M	0.87758	2.905	0.37555	D	0.918867	D	0.69078	0.997	D	0.71656	0.974	T	0.66106	-0.6006	10	0.87932	D	0	.	17.2161	0.86944	0.0:0.0:1.0:0.0	.	16	Q8NHC8	OR2T6_HUMAN	A	16	ENSP00000347965:G16A	ENSP00000347965:G16A	G	+	2	0	OR2T6	246617579	0.994000	0.37717	0.279000	0.24732	0.635000	0.38103	2.429000	0.44758	2.423000	0.82170	0.643000	0.83706	GGG		PASS	0.423	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		27	117	27	117	---	---	---	---
OR2T11	127077	broad.mit.edu	37	1	248790217	248790217	+	Silent	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:248790217G>T	ENST00000330803.2	-	1	274	c.213C>A	c.(211-213)atC>atA	p.I71I		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I71I(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGTGGTACAGATGAAAAGGG	0.473																																						uc001ier.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(211-213)ATC>ATA		olfactory receptor, family 2, subfamily T,							67.0	69.0	69.0					1																	248790217		2051	4236	6287	SO:0001819	synonymous_variant	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248790217G>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.213C>A	1.37:g.248790217G>T							p.I71I	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	213	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		71			Helical; Name=2; (Potential).		Q6IEY6	Silent	SNP	ENST00000330803.2	37	c.213C>A	CCDS31122.1																																																																																				PASS	0.473	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		64	55	64	55	---	---	---	---
OR14I1	401994	broad.mit.edu	37	1	248845215	248845215	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:248845215T>C	ENST00000342623.3	-	1	414	c.391A>G	c.(391-393)Aga>Gga	p.R131G		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R131G(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ATCACGGCTCTGTATTGGAGG	0.512																																						uc001ieu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)AGA>GGA		olfactory receptor, family 14, subfamily I,							78.0	68.0	72.0					1																	248845215		2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845215T>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.391A>G	1.37:g.248845215T>C	ENSP00000339726:p.Arg131Gly						p.R131G	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			1	391	-			131			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342623.3	37	c.391A>G	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	6.832	0.522660	0.13066	.	.	ENSG00000189181	ENST00000342623	T	0.00882	5.58	3.15	-3.59	0.04583	GPCR, rhodopsin-like superfamily (1);	0.487124	0.16890	N	0.195359	T	0.00300	0.0009	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39921	-0.9590	10	0.02654	T	1	.	0.8711	0.01214	0.1485:0.2521:0.2928:0.3065	.	131	A6ND48	O14I1_HUMAN	G	131	ENSP00000339726:R131G	ENSP00000339726:R131G	R	-	1	2	OR14I1	246911838	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.454000	0.00065	-0.930000	0.03752	-0.273000	0.10243	AGA		PASS	0.512	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		28	65	28	65	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1639256	1639256	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:1639256C>G	ENST00000252804.4	-	22	4294	c.4244G>C	c.(4243-4245)tGc>tCc	p.C1415S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1415	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.C1415S(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGCATCCACGCACTCTGTGGT	0.468																																						uc002qxa.2																			1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(4243-4245)TGC>TCC		peroxidasin precursor							71.0	73.0	72.0					2																	1639256		1960	4157	6117	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1639256C>G	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.4244G>C	2.37:g.1639256C>G	ENSP00000252804:p.Cys1415Ser						p.C1415S	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	22	4308	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1415			VWFC.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.4244G>C	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532061	0.64972	.	.	ENSG00000130508	ENST00000252804	D	0.99388	-5.81	5.36	5.36	0.76844	von Willebrand factor, type C (2);	0.000000	0.85682	D	0.000000	D	0.99083	0.9685	M	0.84156	2.68	0.58432	D	0.999998	P	0.52170	0.951	P	0.49799	0.622	D	0.99881	1.1113	10	0.87932	D	0	-39.0735	18.2297	0.89931	0.0:1.0:0.0:0.0	.	1415	Q92626	PXDN_HUMAN	S	1415	ENSP00000252804:C1415S	ENSP00000252804:C1415S	C	-	2	0	PXDN	1618263	1.000000	0.71417	0.281000	0.24762	0.344000	0.29017	6.706000	0.74649	2.665000	0.90641	0.655000	0.94253	TGC		PASS	0.468	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		9	15	9	15	---	---	---	---
COLEC11	78989	broad.mit.edu	37	2	3691114	3691114	+	Nonsense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:3691114A>T	ENST00000349077.4	+	6	512	c.409A>T	c.(409-411)Aag>Tag	p.K137*	COLEC11_ENST00000404205.1_Nonsense_Mutation_p.K63*|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Nonsense_Mutation_p.K151*|COLEC11_ENST00000402794.1_Nonsense_Mutation_p.K87*|COLEC11_ENST00000403096.3_Nonsense_Mutation_p.K111*|COLEC11_ENST00000236693.7_Nonsense_Mutation_p.K134*|COLEC11_ENST00000402922.1_Nonsense_Mutation_p.K87*|COLEC11_ENST00000382062.2_Nonsense_Mutation_p.K113*	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	137					developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.K134*(1)|p.K151*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CAGCGAGCTCAAGTTCATCAA	0.682																																						uc002qya.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(409-411)AAG>TAG		collectin sub-family member 11 isoform a							82.0	67.0	72.0					2																	3691114		2203	4300	6503	SO:0001587	stop_gained	78989					collagen	mannose binding	g.chr2:3691114A>T	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.409A>T	2.37:g.3691114A>T	ENSP00000339168:p.Lys137*					COLEC11_uc002qxz.2_Nonsense_Mutation_p.K134*|COLEC11_uc002qyb.2_Nonsense_Mutation_p.K113*|COLEC11_uc002qyc.2_Nonsense_Mutation_p.K113*|COLEC11_uc010ewo.2_Nonsense_Mutation_p.K89*|COLEC11_uc010ewp.2_Nonsense_Mutation_p.K111*|COLEC11_uc010ewq.2_Nonsense_Mutation_p.K87*|COLEC11_uc010ewr.2_Nonsense_Mutation_p.K87*|COLEC11_uc010ews.2_Nonsense_Mutation_p.K63*	p.K137*	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	6	557	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		137			Potential.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Nonsense_Mutation	SNP	ENST00000349077.4	37	c.409A>T	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435914	0.83885	.	.	ENSG00000118004	ENST00000382062;ENST00000236693;ENST00000349077;ENST00000418971;ENST00000403096;ENST00000402794;ENST00000404205;ENST00000402922	.	.	.	4.94	3.74	0.42951	.	0.088959	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-14.478	10.8796	0.46931	0.8417:0.1583:0.0:0.0	.	.	.	.	X	113;134;137;151;111;87;63;87	.	ENSP00000236693:K134X	K	+	1	0	COLEC11	3668989	1.000000	0.71417	0.219000	0.23793	0.263000	0.26337	5.694000	0.68272	0.677000	0.31305	0.377000	0.23210	AAG		PASS	0.682	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		19	77	19	77	---	---	---	---
LPIN1	23175	broad.mit.edu	37	2	11925077	11925077	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:11925077C>T	ENST00000256720.2	+	9	1409	c.1316C>T	c.(1315-1317)cCg>cTg	p.P439L	LPIN1_ENST00000396099.1_Missense_Mutation_p.P481L|LPIN1_ENST00000425416.2_Missense_Mutation_p.P445L|LPIN1_ENST00000404113.2_5'Flank|LPIN1_ENST00000449576.2_Missense_Mutation_p.P524L|LPIN1_ENST00000396097.1_Missense_Mutation_p.P169L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	439					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.P439L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AACCAGTCCCCGCAGTCGGTG	0.667											OREG0014445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010yjn.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1315-1317)CCG>CTG		lipin 1							41.0	41.0	41.0					2																	11925077		2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11925077C>T	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1316C>T	2.37:g.11925077C>T	ENSP00000256720:p.Pro439Leu		OREG0014445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	675	LPIN1_uc010yjm.1_Missense_Mutation_p.P524L|LPIN1_uc002rbt.2_Missense_Mutation_p.P439L|LPIN1_uc010yjo.1_5'Flank	p.P439L	NM_145693	NP_663731	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	10	1590	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		439					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.1316C>T	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076073	0.76415	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.83248	0.5213	M	0.80746	2.51	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69824	0.966;0.922	D	0.84325	0.0518	10	0.62326	D	0.03	-31.2384	19.798	0.96494	0.0:1.0:0.0:0.0	.	524;439	F5GY24;Q14693	.;LPIN1_HUMAN	L	524;481;445;439;169	ENSP00000397908:P524L;ENSP00000379406:P481L;ENSP00000401522:P445L;ENSP00000256720:P439L;ENSP00000379404:P169L	ENSP00000256720:P439L	P	+	2	0	LPIN1	11842528	1.000000	0.71417	0.997000	0.53966	0.604000	0.37047	7.608000	0.82898	2.677000	0.91161	0.563000	0.77884	CCG		PASS	0.667	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		27	34	27	34	---	---	---	---
APOB	338	broad.mit.edu	37	2	21228501	21228501	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:21228501G>C	ENST00000233242.1	-	26	11366	c.11239C>G	c.(11239-11241)Cct>Gct	p.P3747A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3747					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.P3747A(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAACGTAGGCATGACAAGA	0.383																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(11239-11241)CCT>GCT		apolipoprotein B precursor	Atorvastatin(DB01076)						111.0	118.0	116.0					2																	21228501		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228501G>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11239C>G	2.37:g.21228501G>C	ENSP00000233242:p.Pro3747Ala						p.P3747A	NM_000384	NP_000375	P04114	APOB_HUMAN			26	11367	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3747					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.11239C>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771883	0.49680	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01527	4.8	5.16	5.16	0.70880	.	0.000000	0.50627	D	0.000101	T	0.10252	0.0251	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.00670	-1.1617	10	0.66056	D	0.02	.	17.6315	0.88109	0.0:0.0:1.0:0.0	.	3747	P04114	APOB_HUMAN	A	3747	ENSP00000233242:P3747A	ENSP00000233242:P3747A	P	-	1	0	APOB	21082006	1.000000	0.71417	0.844000	0.33320	0.182000	0.23217	8.087000	0.89521	2.404000	0.81709	0.655000	0.94253	CCT		PASS	0.383	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			29	130	29	130	---	---	---	---
NLRC4	58484	broad.mit.edu	37	2	32475784	32475784	+	Silent	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:32475784T>C	ENST00000404025.2	-	5	1637	c.1149A>G	c.(1147-1149)gcA>gcG	p.A383A	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.A383A|NLRC4_ENST00000360906.5_Silent_p.A383A			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	383	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Winged-helix domain (WHD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.A383A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGAAGTCACTTGCAGCCACAC	0.468																																						uc002roi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(1147-1149)GCA>GCG		caspase recruitment domain protein 12							95.0	99.0	98.0					2																	32475784		2203	4300	6503	SO:0001819	synonymous_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32475784T>C	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1149A>G	2.37:g.32475784T>C						NLRC4_uc002roj.1_Silent_p.A383A|NLRC4_uc010ezt.1_Intron	p.A383A	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			4	1395	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		383			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	c.1149A>G	CCDS33174.1																																																																																				PASS	0.468	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		22	55	22	55	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33335712	33335712	+	Silent	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:33335712C>G	ENST00000404816.2	+	4	1280	c.927C>G	c.(925-927)ctC>ctG	p.L309L	LTBP1_ENST00000354476.3_Silent_p.L309L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	309					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.L309L(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AATACGTGCTCAAGCCCAAGT	0.463																																						uc002ros.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(925-927)CTC>CTG		latent transforming growth factor beta binding							121.0	122.0	122.0					2																	33335712		2203	4300	6503	SO:0001819	synonymous_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33335712C>G		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.927C>G	2.37:g.33335712C>G							p.L309L	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			4	927	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	309					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	c.927C>G	CCDS33177.2																																																																																				PASS	0.463	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		57	116	57	116	---	---	---	---
RASGRP3	25780	broad.mit.edu	37	2	33749499	33749499	+	Splice_Site	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:33749499A>T	ENST00000403687.3	+	9	1431	c.691A>T	c.(691-693)Aag>Tag	p.K231*	RASGRP3_ENST00000407811.1_Splice_Site_p.K231*|RASGRP3_ENST00000402538.3_Splice_Site_p.K231*	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	231	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.K231*(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TTTATTGCAGAAGCTCCTTCA	0.353																																						uc002rox.2																			1	Substitution - Nonsense(1)		lung(1)	lung(3)|ovary(1)|pancreas(1)	5						c.(691-693)AAG>TAG		RAS guanyl releasing protein 3 (calcium and							46.0	43.0	44.0					2																	33749499		1817	4080	5897	SO:0001630	splice_region_variant	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33749499A>T	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.691-1A>T	2.37:g.33749499A>T						RASGRP3_uc010ync.1_Nonsense_Mutation_p.K231*|RASGRP3_uc002roy.2_Nonsense_Mutation_p.K231*	p.K231*	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN			10	1318	+	all_hematologic(175;0.115)		231			Ras-GEF.		D6W583|O94931|Q53SD7	Nonsense_Mutation	SNP	ENST00000403687.3	37	c.691A>T	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	A	42	9.246975	0.99113	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.4189	15.3398	0.74287	1.0:0.0:0.0:0.0	.	.	.	.	X	231	.	ENSP00000385886:K231X	K	+	1	0	RASGRP3	33603003	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.792000	0.62467	2.021000	0.59480	0.533000	0.62120	AAG		PASS	0.353	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376	Nonsense_Mutation	4	18	4	18	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40656664	40656664	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:40656664C>T	ENST00000403092.1	-	2	790	c.757G>A	c.(757-759)Gat>Aat	p.D253N	SLC8A1_ENST00000405269.1_Missense_Mutation_p.D253N|SLC8A1_ENST00000406785.2_Missense_Mutation_p.D253N|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D253N|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D253N|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D253N|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D253N|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D253N|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D253N|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D253N			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	253					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.D253N(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTCTCCTATCCGCTACCCAA	0.443																																						uc002rrx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(757-759)GAT>AAT		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						93.0	94.0	94.0					2																	40656664		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656664C>T		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.757G>A	2.37:g.40656664C>T	ENSP00000384763:p.Asp253Asn					SLC8A1_uc002rry.2_Missense_Mutation_p.D253N|SLC8A1_uc002rrz.2_Missense_Mutation_p.D253N|SLC8A1_uc002rsa.2_Missense_Mutation_p.D253N|SLC8A1_uc002rsd.3_Missense_Mutation_p.D253N|SLC8A1_uc002rsb.1_Missense_Mutation_p.D253N|SLC8A1_uc010fan.1_Missense_Mutation_p.D253N|SLC8A1_uc002rsc.1_Missense_Mutation_p.D253N	p.D253N	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	781	-			253			Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.757G>A	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227653	0.58668	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.50277	0.9;0.8;0.89;0.8;0.9;0.9;0.89;0.75;0.9;0.89	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.75708	0.3886	M	0.90542	3.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;1.0	T	0.79885	-0.1614	10	0.87932	D	0	.	17.9158	0.88950	0.0:1.0:0.0:0.0	.	253;253;253;253;253	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	N	253	ENSP00000383886:D253N;ENSP00000440727:D253N;ENSP00000384763:D253N;ENSP00000385678:D253N;ENSP00000385188:D253N;ENSP00000385535:D253N;ENSP00000332931:D253N;ENSP00000384908:D253N;ENSP00000385811:D253N;ENSP00000443515:D253N	ENSP00000332931:D253N	D	-	1	0	SLC8A1	40510168	1.000000	0.71417	0.998000	0.56505	0.258000	0.26162	7.663000	0.83820	2.832000	0.97577	0.655000	0.94253	GAT		PASS	0.443	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		17	119	17	119	---	---	---	---
THADA	63892	broad.mit.edu	37	2	43732779	43732779	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:43732779T>C	ENST00000405006.4	-	24	3954	c.3603A>G	c.(3601-3603)atA>atG	p.I1201M	THADA_ENST00000330266.7_Missense_Mutation_p.I911M|THADA_ENST00000415080.2_Missense_Mutation_p.I911M|THADA_ENST00000405975.2_Missense_Mutation_p.I1201M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1201								p.I1201M(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTGTACTCTGTATGTCATCTG	0.398																																						uc002rsw.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3601-3603)ATA>ATG		thyroid adenoma associated							94.0	94.0	94.0					2																	43732779		1858	4094	5952	SO:0001583	missense	63892						binding	g.chr2:43732779T>C	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3603A>G	2.37:g.43732779T>C	ENSP00000385995:p.Ile1201Met					THADA_uc010far.2_Missense_Mutation_p.I470M|THADA_uc002rsx.3_Missense_Mutation_p.I1201M|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.I910M|THADA_uc010fat.1_Missense_Mutation_p.I348M|THADA_uc002rta.2_Missense_Mutation_p.I911M	p.I1201M	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			24	3955	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1201					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.3603A>G	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.805|8.805	0.933821|0.933821	0.18206|0.18206	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T;T|.	0.44083|.	0.93;0.93;0.93;0.93|.	5.54|5.54	1.55|1.55	0.23275|0.23275	Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);|.	0.617200|.	0.15953|.	N|.	0.236653|.	T|T	0.22322|0.22322	0.0538|0.0538	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.17465|.	0.018;0.0;0.022;0.008|.	B;B;B;B|.	0.29077|.	0.059;0.0;0.098;0.048|.	T|T	0.22068|0.22068	-1.0227|-1.0227	10|5	0.48119|.	T|.	0.1|.	.|.	1.2599|1.2599	0.01999|0.01999	0.1407:0.1874:0.1461:0.5258|0.1407:0.1874:0.1461:0.5258	.|.	911;1202;911;1201|.	Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6|.	.;.;.;THADA_HUMAN|.	M|C	911;1201;1202;911;1201|515	ENSP00000331105:I911M;ENSP00000386088:I1201M;ENSP00000416048:I911M;ENSP00000385995:I1201M|.	ENSP00000331105:I911M|.	I|Y	-|-	3|2	3|0	THADA|THADA	43586283|43586283	0.004000|0.004000	0.15560|0.15560	0.481000|0.481000	0.27354|0.27354	0.756000|0.756000	0.42949|0.42949	0.025000|0.025000	0.13577|0.13577	0.097000|0.097000	0.17492|0.17492	0.528000|0.528000	0.53228|0.53228	ATA|TAC		PASS	0.398	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		7	12	7	12	---	---	---	---
PLEKHH2	130271	broad.mit.edu	37	2	43968112	43968112	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:43968112G>C	ENST00000282406.4	+	21	3261	c.3151G>C	c.(3151-3153)Ggg>Cgg	p.G1051R		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1051	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.G1051R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACTCTGCGTTGGGCTCTTCCT	0.542																																						uc010yny.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(3151-3153)GGG>CGG		pleckstrin homology domain containing, family H							191.0	154.0	166.0					2																	43968112		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43968112G>C	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3151G>C	2.37:g.43968112G>C	ENSP00000282406:p.Gly1051Arg					PLEKHH2_uc002rtf.3_Missense_Mutation_p.G1050R	p.G1051R	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			21	3234	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1051			MyTH4.|Helical; (Potential).		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.3151G>C	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537206	0.85812	.	.	ENSG00000152527	ENST00000282406	D	0.92149	-2.98	5.34	5.34	0.76211	MyTH4 domain (3);	0.000000	0.85682	D	0.000000	D	0.96676	0.8915	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.985;1.0	D	0.96630	0.9466	10	0.56958	D	0.05	-19.3367	19.4046	0.94643	0.0:0.0:1.0:0.0	.	1051;488	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	R	1051	ENSP00000282406:G1051R	ENSP00000282406:G1051R	G	+	1	0	PLEKHH2	43821616	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.593000	0.82686	2.657000	0.90304	0.655000	0.94253	GGG		PASS	0.542	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		20	107	20	107	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50149181	50149181	+	Silent	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:50149181T>C	ENST00000406316.2	-	22	5811	c.4335A>G	c.(4333-4335)tcA>tcG	p.S1445S	NRXN1_ENST00000402717.3_Silent_p.S1467S|NRXN1_ENST00000406859.3_Silent_p.S1445S|NRXN1_ENST00000401669.2_Silent_p.S1475S|NRXN1_ENST00000404971.1_Silent_p.S1515S|NRXN1_ENST00000405472.3_Silent_p.S1467S|NRXN1_ENST00000401710.1_Silent_p.S463S|NRXN1_ENST00000342183.5_Silent_p.S410S	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1445					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.S410S(1)|p.S1516S(1)|p.S1445S(1)|p.S1515S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGGACTGTGCTGAGTTACTGA	0.438																																						uc010fbp.2																			4	Substitution - coding silent(4)		lung(4)	ovary(2)	2						c.(1228-1230)TCA>TCG		neurexin 1 isoform beta precursor							225.0	185.0	199.0					2																	50149181		2203	4300	6503	SO:0001819	synonymous_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50149181T>C	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4335A>G	2.37:g.50149181T>C						NRXN1_uc002rxb.3_Silent_p.S1144S|NRXN1_uc010fbq.2_Silent_p.S1515S|NRXN1_uc002rxe.3_Silent_p.S1445S|NRXN1_uc010yon.1_Silent_p.S110S|NRXN1_uc002rxa.3_Silent_p.S107S	p.S410S	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	2037	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	410			Cytoplasmic (Potential).		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.1230A>G	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.802|4.802	0.149109|0.149109	0.09185|0.09185	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000412315|ENST00000378262	.|T	.|0.69175	.|-0.38	5.44|5.44	1.75|1.75	0.24633|0.24633	.|.	.|0.000000	.|0.45606	.|U	.|0.000350	T|T	0.64000|0.64000	0.2559|0.2559	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56481|0.56481	-0.7972|-0.7972	4|7	.|0.38643	.|T	.|0.18	.|.	5.811|5.811	0.18465|0.18465	0.1244:0.1362:0.0:0.7394|0.1244:0.1362:0.0:0.7394	.|.	.|.	.|.	.|.	R|G	178|112	.|ENSP00000367510:S112G	.|ENSP00000367510:S112G	Q|S	-|-	2|1	0|0	NRXN1|NRXN1	50002685|50002685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.237000|1.237000	0.32695|0.32695	0.149000|0.149000	0.19098|0.19098	0.533000|0.533000	0.62120|0.62120	CAG|AGC		PASS	0.438	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			23	117	23	117	---	---	---	---
SPTBN1	6711	broad.mit.edu	37	2	54853176	54853176	+	Silent	SNP	C	C	T	rs537029257		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:54853176C>T	ENST00000356805.4	+	12	1730	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A	SPTBN1_ENST00000333896.5_Silent_p.A470A	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	483					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.A483A(1)|p.A470A(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CTGTGGTAGCCGTGGCCAGGG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		17052	0.001		0.0	False		,,,				2504	0.0					uc002rxu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(1447-1449)GCC>GCT		spectrin, beta, non-erythrocytic 1 isoform 1							99.0	95.0	96.0					2																	54853176		2203	4300	6503	SO:0001819	synonymous_variant	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54853176C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1449C>T	2.37:g.54853176C>T						SPTBN1_uc002rxv.1_Silent_p.A483A|SPTBN1_uc002rxx.2_Silent_p.A470A	p.A483A	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		12	1698	+			483			Spectrin 2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.1449C>T	CCDS33198.1																																																																																				PASS	0.567	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			56	90	56	90	---	---	---	---
GKN2	200504	broad.mit.edu	37	2	69173521	69173521	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:69173521G>T	ENST00000328895.4	-	5	495	c.387C>A	c.(385-387)gaC>gaA	p.D129E	GKN2_ENST00000481498.1_Missense_Mutation_p.D129E	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	129	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					extracellular region (GO:0005576)		p.D129E(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						ACCAATCCACGTCTTTGATCA	0.448																																						uc002sfa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(385-387)GAC>GAA		trefoil factor interactions(z) 1 precursor							202.0	189.0	194.0					2																	69173521		2203	4300	6503	SO:0001583	missense	200504					extracellular region		g.chr2:69173521G>T	AF494509	CCDS33215.1	2p14	2012-10-10			ENSG00000183607	ENSG00000183607		"""BRICHOS domain containing"""	24588	protein-coding gene	gene with protein product	"""down regulated in gastric cancer GDDR"", ""BRICHOS domain containing 1B"""					15774165, 15924415, 16888721	Standard	NM_182536		Approved	TFIZ1, PRO813, VLTI465, blottin, GDDR, BRICD1B	uc002sfa.3	Q86XP6	OTTHUMG00000152655	ENST00000328895.4:c.387C>A	2.37:g.69173521G>T	ENSP00000329292:p.Asp129Glu					GKN2_uc002sfb.3_Missense_Mutation_p.D129E	p.D129E	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN			5	496	-			129			BRICHOS.		Q6UWS6	Missense_Mutation	SNP	ENST00000328895.4	37	c.387C>A	CCDS33215.1	.	.	.	.	.	.	.	.	.	.	G	4.196	0.035034	0.08101	.	.	ENSG00000183607	ENST00000328895;ENST00000481498	T;T	0.78595	-1.19;-1.19	4.73	-9.46	0.00597	BRICHOS (2);	1.018850	0.07828	N	0.960866	T	0.59321	0.2185	L	0.36672	1.1	0.09310	N	1	B;B	0.15719	0.014;0.014	B;B	0.17722	0.008;0.019	T	0.42565	-0.9444	10	0.35671	T	0.21	-22.8235	4.3055	0.10944	0.4967:0.1252:0.2977:0.0804	.	129;129	E5RHQ8;Q86XP6	.;GKN2_HUMAN	E	129	ENSP00000329292:D129E;ENSP00000428538:D129E	ENSP00000329292:D129E	D	-	3	2	GKN2	69027025	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.282000	0.01156	-3.185000	0.00221	-1.223000	0.01593	GAC		PASS	0.448	GKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327191.1	NM_182536		110	173	110	173	---	---	---	---
REG3G	130120	broad.mit.edu	37	2	79254998	79254998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:79254998G>A	ENST00000272324.5	+	5	583	c.399G>A	c.(397-399)tgG>tgA	p.W133*	REG3G_ENST00000393897.2_Nonsense_Mutation_p.W133*|REG3G_ENST00000409471.1_Nonsense_Mutation_p.W87*	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	133	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.W133*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACTTTGCATGGGAGAAAAATC	0.498																																						uc002snw.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(397-399)TGG>TGA		regenerating islet-derived 3 gamma precursor							149.0	144.0	146.0					2																	79254998		2203	4300	6503	SO:0001587	stop_gained	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79254998G>A	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.399G>A	2.37:g.79254998G>A	ENSP00000272324:p.Trp133*					REG3G_uc002snx.2_Nonsense_Mutation_p.W133*|REG3G_uc010ffu.2_Nonsense_Mutation_p.W87*	p.W133*	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			5	484	+			133			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Nonsense_Mutation	SNP	ENST00000272324.5	37	c.399G>A	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580596	0.46006	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	.	.	.	4.64	4.64	0.57946	.	0.000000	0.48286	D	0.000182	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2263	0.59916	0.0:0.0:1.0:0.0	.	.	.	.	X	133;133;87	.	ENSP00000272324:W133X	W	+	3	0	REG3G	79108506	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	2.539000	0.45718	2.578000	0.87016	0.655000	0.94253	TGG		PASS	0.498	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		128	99	128	99	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80529841	80529841	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:80529841C>G	ENST00000295057.3	-	2	1760	c.1104G>C	c.(1102-1104)gaG>gaC	p.E368D	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.E368D	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	368					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.E368D(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGCTGGTGGGCTCGGCCCCAT	0.716										HNSCC(69;0.2)																												uc002sok.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1102-1104)GAG>GAC		leucine rich repeat transmembrane neuronal 1							15.0	16.0	16.0					2																	80529841		2196	4291	6487	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529841C>G	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1104G>C	2.37:g.80529841C>G	ENSP00000295057:p.Glu368Asp	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.E368D	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1374	-			368			Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.1104G>C	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	4.343	0.063175	0.08388	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.39056	1.1;1.1	5.32	3.47	0.39725	.	0.571997	0.17570	U	0.169483	T	0.22126	0.0533	N	0.19112	0.55	0.42070	D	0.991207	B	0.02656	0.0	B	0.01281	0.0	T	0.07986	-1.0744	9	.	.	.	.	3.6573	0.08225	0.1232:0.4883:0.2882:0.1002	.	368	Q86UE6	LRRT1_HUMAN	D	368	ENSP00000295057:E368D;ENSP00000386646:E368D	.	E	-	3	2	LRRTM1	80383352	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.317000	0.33631	1.212000	0.43366	0.655000	0.94253	GAG		PASS	0.716	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		11	10	11	10	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530675	80530675	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:80530675C>T	ENST00000295057.3	-	2	926	c.270G>A	c.(268-270)caG>caA	p.Q90Q	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.Q90Q	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	90					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.Q90Q(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCCACGTGAGCTGCATTAACC	0.612										HNSCC(69;0.2)																												uc002sok.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(268-270)CAG>CAA		leucine rich repeat transmembrane neuronal 1							118.0	115.0	116.0					2																	80530675		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530675C>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.270G>A	2.37:g.80530675C>T		HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.Q90Q	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	540	-			90			LRR 1.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.270G>A	CCDS1966.1																																																																																				PASS	0.612	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		30	117	30	117	---	---	---	---
FAHD2A	51011	broad.mit.edu	37	2	96071537	96071537	+	Silent	SNP	C	C	T	rs372626548		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:96071537C>T	ENST00000233379.4	+	2	384	c.231C>T	c.(229-231)ctC>ctT	p.L77L	FAHD2A_ENST00000447036.1_Silent_p.L77L	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	77							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.L77L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						AGGCCACCCTCTCAGTGGCAA	0.597													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18592	0.0		0.0	False		,,,				2504	0.0					uc002sur.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(229-231)CTC>CTT		fumarylacetoacetate hydrolase domain containing		C		0,4402		0,0,2201	45.0	35.0	38.0		231	-5.8	0.2	2		38	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	FAHD2A	NM_016044.2		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		77/315	96071537	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	51011						hydrolase activity|metal ion binding	g.chr2:96071537C>T	AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.231C>T	2.37:g.96071537C>T						FAHD2A_uc002sus.2_Silent_p.L77L	p.L77L	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN			2	410	+			77					Q9Y3B0	Silent	SNP	ENST00000233379.4	37	c.231C>T	CCDS2014.1																																																																																				PASS	0.597	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252778.1	NM_016044		10	11	10	11	---	---	---	---
MITD1	129531	broad.mit.edu	37	2	99787034	99787034	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:99787034G>C	ENST00000289359.2	-	5	635	c.559C>G	c.(559-561)Caa>Gaa	p.Q187E	MRPL30_ENST00000410042.1_Intron|MITD1_ENST00000466880.1_5'UTR	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	187	Important for association with membranes.				cytokinetic cell separation (GO:0000920)|mitotic cytokinesis (GO:0000281)|mitotic cytokinetic cell separation (GO:1902409)|negative regulation of protein binding (GO:0032091)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)	phosphatidylinositol binding (GO:0035091)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)	p.Q187E(1)		large_intestine(3)|lung(2)|ovary(1)	6						GAAGAGTATTGAACTTCCAAC	0.343																																						uc002szs.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(559-561)CAA>GAA		MIT, microtubule interacting and transport,							164.0	174.0	171.0					2																	99787034		2203	4300	6503	SO:0001583	missense	129531				protein transport	late endosome membrane		g.chr2:99787034G>C	BC018453	CCDS2040.1	2q11.2	2006-07-14			ENSG00000158411	ENSG00000158411			25207	protein-coding gene	gene with protein product						16730941	Standard	NM_138798		Approved	LOC129531	uc002szs.1	Q8WV92	OTTHUMG00000130638	ENST00000289359.2:c.559C>G	2.37:g.99787034G>C	ENSP00000289359:p.Gln187Glu					MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.2_Intron	p.Q187E	NM_138798	NP_620153	Q8WV92	MITD1_HUMAN			5	607	-			187					Q69YV0	Missense_Mutation	SNP	ENST00000289359.2	37	c.559C>G	CCDS2040.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.507955	0.00155	.	.	ENSG00000158411	ENST00000422537;ENST00000289359;ENST00000409107	T;T	0.39229	1.09;1.12	5.54	1.59	0.23543	.	0.802920	0.12126	N	0.497234	T	0.15219	0.0367	N	0.04043	-0.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31613	-0.9937	10	0.02654	T	1	-0.937	5.0126	0.14321	0.0:0.5183:0.1497:0.3321	.	187	Q8WV92	MITD1_HUMAN	E	169;187;158	ENSP00000289359:Q187E;ENSP00000387316:Q158E	ENSP00000289359:Q187E	Q	-	1	0	MITD1	99153466	0.000000	0.05858	0.009000	0.14445	0.004000	0.04260	-0.733000	0.04898	0.004000	0.14682	-0.178000	0.13098	CAA		PASS	0.343	MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253126.1	NM_138798		83	241	83	241	---	---	---	---
MRPS9	64965	broad.mit.edu	37	2	105687796	105687796	+	Missense_Mutation	SNP	G	G	A	rs147264055		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:105687796G>A	ENST00000258455.3	+	3	451	c.341G>A	c.(340-342)aGt>aAt	p.S114N		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	114					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.S114N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CTTTTCCCAAGTGGTTTGTTT	0.294													G|||	1	0.000199681	0.0	0.0	5008	,	,		14801	0.0		0.001	False		,,,				2504	0.0					uc002tcn.3																			1	Substitution - Missense(1)		lung(1)		0						c.(340-342)AGT>AAT		mitochondrial ribosomal protein S9 precursor		G	ASN/SER	1,4405	2.1+/-5.4	0,1,2202	75.0	76.0	75.0		341	5.8	1.0	2	dbSNP_134	75	1,8597	1.2+/-3.3	0,1,4298	yes	missense	MRPS9	NM_182640.2	46	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	114/397	105687796	2,13002	2203	4299	6502	SO:0001583	missense	64965				DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr2:105687796G>A		CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"""Mitochondrial ribosomal proteins / small subunits"""	14501	protein-coding gene	gene with protein product	"""28S ribosomal protein S9, mitochondrial"""	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.341G>A	2.37:g.105687796G>A	ENSP00000258455:p.Ser114Asn						p.S114N	NM_182640	NP_872578	P82933	RT09_HUMAN			3	409	+			114					Q6PG40	Missense_Mutation	SNP	ENST00000258455.3	37	c.341G>A	CCDS2065.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.3	4.516220	0.85495	2.27E-4	1.16E-4	ENSG00000135972	ENST00000258455	D	0.92299	-3.01	5.77	5.77	0.91146	.	0.084014	0.85682	D	0.000000	D	0.96371	0.8816	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96462	0.9342	10	0.87932	D	0	-9.483	14.7634	0.69621	0.0:0.2514:0.7486:0.0	.	114	P82933	RT09_HUMAN	N	114	ENSP00000258455:S114N	ENSP00000258455:S114N	S	+	2	0	MRPS9	105054228	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.018000	0.70811	2.885000	0.99019	0.655000	0.94253	AGT		PASS	0.294	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640		32	26	32	26	---	---	---	---
SEPT10	151011	broad.mit.edu	37	2	110325422	110325422	+	Missense_Mutation	SNP	G	G	T	rs547734280		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:110325422G>T	ENST00000397712.2	-	6	1110	c.732C>A	c.(730-732)gaC>gaA	p.D244E	SEPT10_ENST00000545389.1_Missense_Mutation_p.D77E|SEPT10_ENST00000437928.1_Missense_Mutation_p.D229E|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000356688.4_Missense_Mutation_p.D244E|SEPT10_ENST00000397714.2_Missense_Mutation_p.D221E|SEPT10_ENST00000334001.6_Missense_Mutation_p.D111E|SEPT10_ENST00000415095.1_Missense_Mutation_p.D244E	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	244	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.D244E(1)|p.D221E(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TAGCAATAGTGTCATCATCCG	0.368																																						uc002tew.2																			2	Substitution - Missense(2)		lung(2)		0						c.(730-732)GAC>GAA		septin 10 isoform 1							131.0	121.0	124.0					2																	110325422		1986	4183	6169	SO:0001583	missense	151011				cell cycle|cell division	septin complex	GTP binding	g.chr2:110325422G>T	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.732C>A	2.37:g.110325422G>T	ENSP00000380824:p.Asp244Glu					SEPT10_uc010ywu.1_Missense_Mutation_p.D77E|SEPT10_uc002tex.2_Missense_Mutation_p.D221E|SEPT10_uc002tey.2_Missense_Mutation_p.D244E|SEPT10_uc010ywv.1_Missense_Mutation_p.D110E|SEPT10_uc002tev.1_Missense_Mutation_p.D51E|SEPT10_uc010fjo.2_RNA|SEPT10_uc002tez.1_Missense_Mutation_p.D19E	p.D244E	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN			6	1111	-			244					B3KRQ9|Q86VP5|Q9HAH6	Missense_Mutation	SNP	ENST00000397712.2	37	c.732C>A	CCDS46383.1	.	.	.	.	.	.	.	.	.	.	G	0.450	-0.894356	0.02491	.	.	ENSG00000186522	ENST00000352314;ENST00000356688;ENST00000397712;ENST00000397714;ENST00000334001;ENST00000437928;ENST00000545389;ENST00000415095;ENST00000493445;ENST00000423520	T;T;T;T;T;T;T;T;T	0.77877	0.7;0.7;0.7;0.7;0.7;0.7;0.7;-1.13;0.7	5.77	-0.571	0.11749	.	0.472503	0.22170	N	0.063656	T	0.33702	0.0872	N	0.00599	-1.345	0.32203	N	0.577492	B;B;B;B;B;B	0.10296	0.0;0.003;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.14023	0.002;0.01;0.001;0.004;0.001;0.001	T	0.45026	-0.9289	10	0.02654	T	1	.	3.503	0.07680	0.0866:0.1407:0.2763:0.4964	.	111;77;244;244;221;244	B7Z371;B7Z277;A8K7M3;B5ME97;Q9P0V9-3;Q9P0V9	.;.;.;.;.;SEP10_HUMAN	E	202;244;244;221;111;229;77;244;51;77	ENSP00000349116:D244E;ENSP00000380824:D244E;ENSP00000380826:D221E;ENSP00000334234:D111E;ENSP00000407790:D229E;ENSP00000439364:D77E;ENSP00000396728:D244E;ENSP00000445707:D51E;ENSP00000416597:D77E	ENSP00000334234:D111E	D	-	3	2	SEPT10	109682711	1.000000	0.71417	0.527000	0.27925	0.284000	0.27059	1.119000	0.31258	-0.233000	0.09797	0.655000	0.94253	GAC		PASS	0.368	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710		22	88	22	88	---	---	---	---
UGGT1	56886	broad.mit.edu	37	2	128886667	128886667	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:128886667G>T	ENST00000259253.6	+	13	1338	c.1291G>T	c.(1291-1293)Ggc>Tgc	p.G431C	UGGT1_ENST00000375990.3_Missense_Mutation_p.G407C	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	431					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.G431C(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGGAATAGAAGGCCTTTCTCT	0.438																																						uc002tps.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1291-1293)GGC>TGC		UDP-glucose ceramide glucosyltransferase-like 1							145.0	147.0	146.0					2																	128886667		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128886667G>T	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1291G>T	2.37:g.128886667G>T	ENSP00000259253:p.Gly431Cys					UGGT1_uc010fme.1_Missense_Mutation_p.G306C|UGGT1_uc002tpr.2_Missense_Mutation_p.G407C	p.G431C	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			13	1469	+			431					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.1291G>T	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.453314	0.84209	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.38401	1.14;1.14	5.5	5.5	0.81552	.	0.157506	0.56097	D	0.000025	T	0.57989	0.2091	M	0.76170	2.325	0.52501	D	0.999954	D;D	0.63046	0.992;0.97	P;P	0.57371	0.819;0.497	T	0.61163	-0.7118	10	0.62326	D	0.03	.	19.3932	0.94594	0.0:0.0:1.0:0.0	.	407;431	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	C	407;431	ENSP00000365158:G407C;ENSP00000259253:G431C	ENSP00000259253:G431C	G	+	1	0	UGGT1	128603137	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.888000	0.69758	2.586000	0.87340	0.591000	0.81541	GGC		PASS	0.438	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		30	95	30	95	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	132020950	132020950	+	Missense_Mutation	SNP	A	A	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:132020950A>C	ENST00000356920.5	+	15	2016	c.1922A>C	c.(1921-1923)gAa>gCa	p.E641A	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	641					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.E641A(1)									TGTAAGAAAGAAAAAGACGTC	0.348																																						uc002tsn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1921-1923)GAA>GCA		protein expressed in prostate, ovary, testis,							26.0	28.0	27.0					2																	132020950		1924	4160	6084	SO:0001583	missense	445582						ATP binding	g.chr2:132020950A>C	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.1922A>C	2.37:g.132020950A>C	ENSP00000439189:p.Glu641Ala					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.E241A|POTEE_uc002tsl.2_Missense_Mutation_p.E223A|POTEE_uc010fmy.1_Missense_Mutation_p.E105A	p.E641A	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			15	1974	+			641					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.1922A>C	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	7.554	0.663375	0.14710	.	.	ENSG00000188219	ENST00000356920	T	0.79845	-1.31	0.993	0.993	0.19825	.	.	.	.	.	T	0.71264	0.3319	L	0.50333	1.59	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.63171	-0.6697	9	0.87932	D	0	.	3.8532	0.08963	0.6052:0.3947:0.0:0.0	.	641	Q6S8J3	POTEE_HUMAN	A	641	ENSP00000439189:E641A	ENSP00000439189:E641A	E	+	2	0	AC131180.1	131737420	0.001000	0.12720	0.025000	0.17156	0.022000	0.10575	0.395000	0.20850	0.705000	0.31890	0.155000	0.16302	GAA		PASS	0.348	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		29	18	29	18	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133540003	133540003	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:133540003C>A	ENST00000409261.1	-	14	4754	c.4381G>T	c.(4381-4383)Gct>Tct	p.A1461S	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1461S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1461								p.A1461S(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAACTCACAGCATCAGTCGCG	0.502																																						uc002ttp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(4381-4383)GCT>TCT		Nck-associated protein 5 isoform 1							56.0	55.0	55.0					2																	133540003		1919	4120	6039	SO:0001583	missense	344148						protein binding	g.chr2:133540003C>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4381G>T	2.37:g.133540003C>A	ENSP00000387128:p.Ala1461Ser					NCKAP5_uc002ttq.2_Intron	p.A1461S	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	4755	-			1461					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.4381G>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	0.980	-0.697503	0.03279	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09350	2.99;2.99	5.5	2.77	0.32553	.	1.109510	0.07254	U	0.866385	T	0.04588	0.0125	N	0.14661	0.345	0.09310	N	1	P	0.38078	0.617	B	0.28011	0.085	T	0.20706	-1.0267	10	0.06757	T	0.87	.	5.9802	0.19403	0.0:0.6339:0.1375:0.2286	.	1461	O14513	NCKP5_HUMAN	S	1461	ENSP00000387128:A1461S;ENSP00000380603:A1461S	ENSP00000380603:A1461S	A	-	1	0	NCKAP5	133256473	0.000000	0.05858	0.003000	0.11579	0.303000	0.27691	0.067000	0.14510	0.443000	0.26582	0.655000	0.94253	GCT		PASS	0.502	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		10	53	10	53	---	---	---	---
MAP3K19	80122	broad.mit.edu	37	2	135745090	135745090	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:135745090G>T	ENST00000375845.3	-	7	1382	c.1352C>A	c.(1351-1353)cCc>cAc	p.P451H	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P468H|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P338H	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	451							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P451H(1)									TTTATCAATGGGGTCATCAAA	0.358																																						uc002tue.1																			1	Substitution - Missense(1)		lung(1)	stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(1351-1353)CCC>CAC		Yeast Sps1/Ste20-related kinase 4 isoform 1							116.0	119.0	118.0					2																	135745090		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135745090G>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1352C>A	2.37:g.135745090G>T	ENSP00000365005:p.Pro451His					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P338H|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.P179H|YSK4_uc002tui.3_Missense_Mutation_p.P468H	p.P451H	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	1383	-			451					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1352C>A	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604156	0.46423	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.75704	-0.96;-0.89;1.37	4.84	4.84	0.62591	.	0.170895	0.28047	N	0.016814	T	0.80401	0.4616	L	0.46157	1.445	0.40948	D	0.984522	D;D;D	0.76494	0.999;0.999;0.998	D;D;P	0.66351	0.939;0.943;0.87	T	0.82450	-0.0451	10	0.87932	D	0	.	12.7826	0.57485	0.0:0.1644:0.8356:0.0	.	338;468;451	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	H	451;338;468	ENSP00000365005:P451H;ENSP00000351140:P338H;ENSP00000376647:P468H	ENSP00000351140:P338H	P	-	2	0	YSK4	135461560	0.002000	0.14202	0.008000	0.14137	0.007000	0.05969	1.106000	0.31098	2.498000	0.84270	0.585000	0.79938	CCC		PASS	0.358	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		72	59	72	59	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138421125	138421125	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:138421125C>A	ENST00000409968.1	+	26	4809	c.4631C>A	c.(4630-4632)tCt>tAt	p.S1544Y	THSD7B_ENST00000413152.2_Missense_Mutation_p.S1516Y|THSD7B_ENST00000272643.3_Missense_Mutation_p.S1547Y			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1546						integral component of membrane (GO:0016021)		p.S1547Y(1)|p.S1516Y(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)		AAAGGATGGTCTCTTCAACCA	0.358																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(4543-4545)TCT>TAT		thrombospondin, type I, domain containing 7B							34.0	33.0	33.0					2																	138421125		1802	4078	5880	SO:0001583	missense	80731							g.chr2:138421125C>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.4631C>A	2.37:g.138421125C>A	ENSP00000387145:p.Ser1544Tyr					THSD7B_uc010zbj.1_RNA	p.S1515Y	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	25	4544	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.4544C>A		.	.	.	.	.	.	.	.	.	.	.	15.73	2.919777	0.52653	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.24538	2.37;2.24;1.85	6.01	6.01	0.97437	.	0.052341	0.85682	D	0.000000	T	0.35885	0.0947	L	0.31664	0.95	0.80722	D	1	D	0.61697	0.99	P	0.57101	0.813	T	0.00839	-1.1545	10	0.26408	T	0.33	.	20.589	0.99427	0.0:1.0:0.0:0.0	.	1516	C9JKN6	.	Y	1544;1547;1516	ENSP00000387145:S1544Y;ENSP00000272643:S1547Y;ENSP00000413841:S1516Y	ENSP00000272643:S1547Y	S	+	2	0	THSD7B	138137595	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.394000	0.79862	2.862000	0.98298	0.644000	0.83932	TCT		PASS	0.358	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		7	8	7	8	---	---	---	---
TANC1	85461	broad.mit.edu	37	2	159954259	159954259	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:159954259A>G	ENST00000263635.6	+	4	409	c.172A>G	c.(172-174)Aaa>Gaa	p.K58E	TANC1_ENST00000454300.1_Missense_Mutation_p.K58E	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	58					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.K58E(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GAGCTTGGCCAAAGGTGTCTC	0.522																																						uc002uag.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(172-174)AAA>GAA		tetratricopeptide repeat, ankyrin repeat and							169.0	160.0	163.0					2																	159954259		2027	4173	6200	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:159954259A>G	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.172A>G	2.37:g.159954259A>G	ENSP00000263635:p.Lys58Glu					TANC1_uc010fol.1_Missense_Mutation_p.K58E|TANC1_uc010zcm.1_Missense_Mutation_p.K58E|TANC1_uc010fom.1_Missense_Mutation_p.K58E	p.K58E	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			4	446	+			58					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.172A>G	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.785765	0.90282	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.74421	-0.84;-0.62	5.41	5.41	0.78517	.	0.121854	0.56097	D	0.000040	T	0.81749	0.4888	L	0.46157	1.445	0.25049	N	0.991149	D;D;D	0.71674	0.993;0.998;0.991	D;D;P	0.80764	0.971;0.994;0.787	T	0.75345	-0.3350	10	0.72032	D	0.01	.	13.9577	0.64160	1.0:0.0:0.0:0.0	.	58;58;58	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	E	58	ENSP00000396339:K58E;ENSP00000263635:K58E	ENSP00000263635:K58E	K	+	1	0	TANC1	159662505	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.276000	0.78559	2.177000	0.69029	0.533000	0.62120	AAA		PASS	0.522	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			102	100	102	100	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162735758	162735758	+	Missense_Mutation	SNP	G	G	A	rs534723058		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:162735758G>A	ENST00000446997.1	+	9	1159	c.1066G>A	c.(1066-1068)Gta>Ata	p.V356I	SLC4A10_ENST00000375514.5_Missense_Mutation_p.V337I|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_Missense_Mutation_p.V356I|SLC4A10_ENST00000421911.1_Missense_Mutation_p.V356I|SLC4A10_ENST00000272716.5_Missense_Mutation_p.V326I|SLC4A10_ENST00000415876.2_Missense_Mutation_p.V326I	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	356					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.V356I(1)|p.V326I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GTCTCCAGCTGTATTGCTTCA	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		16177	0.001		0.0	False		,,,				2504	0.0					uc002ubx.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(1066-1068)GTA>ATA		solute carrier family 4, sodium bicarbonate							173.0	172.0	172.0					2																	162735758		1907	4118	6025	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162735758G>A		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1066G>A	2.37:g.162735758G>A	ENSP00000393066:p.Val356Ile					SLC4A10_uc010fpa.1_Missense_Mutation_p.V368I|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.V326I|SLC4A10_uc010zcs.1_Missense_Mutation_p.V337I	p.V356I	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			9	1250	+			356			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.1066G>A	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008114	0.93287	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000535165;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.55	5.55	0.83447	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.84129	0.5404	M	0.81179	2.53	0.80722	D	1	D;P;D;P	0.53885	0.963;0.616;0.963;0.932	P;P;P;P	0.60886	0.88;0.579;0.88;0.758	D	0.85071	0.0940	10	0.56958	D	0.05	.	19.5116	0.95144	0.0:0.0:1.0:0.0	.	337;356;326;356	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	I	337;326;356;326;325;356;356;355	ENSP00000364664:V337I;ENSP00000395797:V326I;ENSP00000437527:V356I;ENSP00000272716:V326I;ENSP00000393066:V356I;ENSP00000404486:V356I	ENSP00000272716:V326I	V	+	1	0	SLC4A10	162444004	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	8.010000	0.88615	2.619000	0.88677	0.655000	0.94253	GTA		PASS	0.413	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		77	76	77	76	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162760591	162760591	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:162760591T>A	ENST00000446997.1	+	13	1613	c.1520T>A	c.(1519-1521)cTg>cAg	p.L507Q	SLC4A10_ENST00000375514.5_Missense_Mutation_p.L488Q|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.L507Q|SLC4A10_ENST00000272716.5_Missense_Mutation_p.L477Q|SLC4A10_ENST00000415876.2_Missense_Mutation_p.L477Q	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	507					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.L507Q(1)|p.L477Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GCTTTCAGCCTGCAGTGCTTA	0.443																																						uc002ubx.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(1519-1521)CTG>CAG		solute carrier family 4, sodium bicarbonate							77.0	72.0	74.0					2																	162760591		1865	4120	5985	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162760591T>A		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1520T>A	2.37:g.162760591T>A	ENSP00000393066:p.Leu507Gln					SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.L477Q|SLC4A10_uc010zcs.1_Missense_Mutation_p.L488Q	p.L507Q	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			13	1704	+			507			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.1520T>A	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.739641	0.89573	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29	5.48	5.48	0.80851	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88695	0.6506	M	0.72118	2.19	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.75020	0.985;0.985;0.982	D	0.89887	0.4034	10	0.72032	D	0.01	.	15.5681	0.76309	0.0:0.0:0.0:1.0	.	488;477;507	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	Q	488;477;477;476;507;507;506	ENSP00000364664:L488Q;ENSP00000395797:L477Q;ENSP00000272716:L477Q;ENSP00000393066:L507Q;ENSP00000404486:L507Q	ENSP00000272716:L477Q	L	+	2	0	SLC4A10	162468837	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.997000	0.88414	2.091000	0.63221	0.460000	0.39030	CTG		PASS	0.443	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		4	18	4	18	---	---	---	---
GCG	2641	broad.mit.edu	37	2	163003945	163003945	+	Missense_Mutation	SNP	A	A	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:163003945A>C	ENST00000418842.2	-	3	426	c.172T>G	c.(172-174)Ttc>Gtc	p.F58V	GCG_ENST00000375497.3_Missense_Mutation_p.F58V	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	58					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.F58V(2)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						TCACTGGTGAATGTGCCCTGT	0.498																																						uc002ucc.2																			2	Substitution - Missense(2)		lung(2)		0						c.(172-174)TTC>GTC		glucagon preproprotein	Exenatide(DB01276)|Phentolamine(DB00692)						267.0	267.0	267.0					2																	163003945		2060	4197	6257	SO:0001583	missense	2641				cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	g.chr2:163003945A>C		CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.172T>G	2.37:g.163003945A>C	ENSP00000387662:p.Phe58Val						p.F58V	NM_002054	NP_002045	P01275	GLUC_HUMAN			3	271	-			58					A6NN65|Q53TP6	Missense_Mutation	SNP	ENST00000418842.2	37	c.172T>G	CCDS46439.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.268443	0.59540	.	.	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.66099	-0.19;-0.19	5.64	4.49	0.54785	Glucagon/GIP/secretin/VIP (4);	0.044991	0.85682	D	0.000000	T	0.67776	0.2929	M	0.91717	3.235	0.80722	D	1	B	0.30914	0.3	B	0.25987	0.065	T	0.71297	-0.4635	10	0.87932	D	0	12.4482	11.6175	0.51098	0.9312:0.0:0.0688:0.0	.	58	P01275	GLUC_HUMAN	V	58	ENSP00000387662:F58V;ENSP00000364647:F58V	ENSP00000364647:F58V	F	-	1	0	GCG	162712191	1.000000	0.71417	0.840000	0.33206	0.842000	0.47809	8.955000	0.93058	1.152000	0.42452	0.528000	0.53228	TTC		PASS	0.498	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054		142	156	142	156	---	---	---	---
FAP	2191	broad.mit.edu	37	2	163051246	163051246	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:163051246G>A	ENST00000188790.4	-	17	1622	c.1415C>T	c.(1414-1416)cCc>cTc	p.P472L	FAP_ENST00000443424.1_Missense_Mutation_p.P447L	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.P472L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GGTGGAAATGGGGATGCCTGG	0.443																																						uc002ucd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1414-1416)CCC>CTC		fibroblast activation protein, alpha subunit							159.0	141.0	147.0					2																	163051246		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163051246G>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1415C>T	2.37:g.163051246G>A	ENSP00000188790:p.Pro472Leu					FAP_uc010fpc.2_Missense_Mutation_p.P21L|FAP_uc010zct.1_Missense_Mutation_p.P447L|FAP_uc010fpd.2_5'UTR	p.P472L	NM_004460	NP_004451	Q12884	SEPR_HUMAN			17	1623	-			472			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.1415C>T	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324640	0.60634	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.52983	0.64;0.64	5.86	5.86	0.93980	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75910	0.3914	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	T	0.78868	-0.2034	10	0.87932	D	0	-22.5581	20.1735	0.98170	0.0:0.0:1.0:0.0	.	447;472	B4DLR2;Q12884	.;SEPR_HUMAN	L	472;447	ENSP00000188790:P472L;ENSP00000411391:P447L	ENSP00000188790:P472L	P	-	2	0	FAP	162759492	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	6.441000	0.73439	2.937000	0.99478	0.650000	0.86243	CCC		PASS	0.443	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			17	47	17	47	---	---	---	---
GCA	25801	broad.mit.edu	37	2	163216741	163216741	+	Silent	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:163216741T>C	ENST00000437150.2	+	8	803	c.642T>C	c.(640-642)acT>acC	p.T214T	GCA_ENST00000429691.2_Intron|GCA_ENST00000233612.4_Silent_p.T195T	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	214					membrane fusion (GO:0061025)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T214T(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						TGCAGGGCACTATGGCAATTT	0.274																																						uc002ucg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(640-642)ACT>ACC		grancalcin, EF-hand calcium binding protein							62.0	64.0	63.0					2																	163216741		2201	4295	6496	SO:0001819	synonymous_variant	25801				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity	g.chr2:163216741T>C	M81637	CCDS2218.1	2q24.2	2013-01-10	2001-11-28		ENSG00000115271	ENSG00000115271		"""EF-hand domain containing"""	15990	protein-coding gene	gene with protein product		607030	"""grancalcin, EF-hand calcium-binding protein"""			1737748, 1530588, 12804766	Standard	NM_012198		Approved	GCL	uc002ucg.3	P28676	OTTHUMG00000132057	ENST00000437150.2:c.642T>C	2.37:g.163216741T>C						GCA_uc010zcu.1_Silent_p.T195T	p.T214T	NM_012198	NP_036330	P28676	GRAN_HUMAN			8	818	+			214					B2R5X3|Q53TB5|Q59EP3	Silent	SNP	ENST00000437150.2	37	c.642T>C	CCDS2218.1																																																																																				PASS	0.274	GCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255080.3	NM_012198		32	43	32	43	---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	166020188	166020188	+	Intron	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:166020188C>T	ENST00000360093.3	-	7	1186				SCN3A_ENST00000409101.3_Intron|SCN3A_ENST00000283254.7_Missense_Mutation_p.V212I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit						membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V212I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AACGCTGAGACATTGCCCAGG	0.418																																						uc002ucx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(634-636)GTC>ATC		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						99.0	93.0	95.0					2																	166020188		2203	4300	6503	SO:0001627	intron_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166020188C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.694+123G>A	2.37:g.166020188C>T						SCN3A_uc002ucy.2_Missense_Mutation_p.V212I|SCN3A_uc002ucz.2_Intron|SCN3A_uc002uda.1_Missense_Mutation_p.V81I|SCN3A_uc002udb.1_Intron	p.V212I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			7	1126	-			212					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.634G>A		.	.	.	.	.	.	.	.	.	.	C	19.72	3.880733	0.72294	.	.	ENSG00000153253	ENST00000283254;ENST00000440431	D;D	0.98296	-4.85;-4.85	5.42	5.42	0.78866	.	0.000000	0.52532	D	0.000075	D	0.98015	0.9346	L	0.28458	0.855	0.80722	D	1	B;P;D	0.61697	0.004;0.541;0.99	B;B;D	0.73380	0.012;0.213;0.98	D	0.98657	1.0682	10	0.41790	T	0.15	.	19.2022	0.93715	0.0:1.0:0.0:0.0	.	212;212;212	E7EUE6;Q9NY46-4;Q9NY46-3	.;.;.	I	212	ENSP00000283254:V212I;ENSP00000403348:V212I	ENSP00000283254:V212I	V	-	1	0	SCN3A	165728434	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.542000	0.85734	0.543000	0.68304	GTC		PASS	0.418	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		16	63	16	63	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166172106	166172106	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:166172106C>G	ENST00000375437.2	+	11	1799	c.1509C>G	c.(1507-1509)aaC>aaG	p.N503K	SCN2A_ENST00000283256.6_Missense_Mutation_p.N503K|SCN2A_ENST00000357398.3_Missense_Mutation_p.N503K|SCN2A_ENST00000375427.2_Missense_Mutation_p.N503K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	503					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.N503K(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCTGAaaaacagaagaaaga	0.383																																						uc002udc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(1507-1509)AAC>AAG		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						43.0	46.0	45.0					2																	166172106		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166172106C>G	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1509C>G	2.37:g.166172106C>G	ENSP00000364586:p.Asn503Lys					SCN2A_uc002udd.2_Missense_Mutation_p.N503K|SCN2A_uc002ude.2_Missense_Mutation_p.N503K	p.N503K	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			11	1799	+			503					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.1509C>G	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718425	0.48622	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.97138	-4.26;-2.76;-2.76;-2.76;-2.76	5.9	4.11	0.48088	Domain of unknown function DUF3451 (1);	0.238594	0.37012	N	0.002285	D	0.98604	0.9533	M	0.90922	3.16	0.48087	D	0.999589	B;D	0.76494	0.167;0.999	B;D	0.91635	0.053;0.999	D	0.98218	1.0476	10	0.56958	D	0.05	.	13.5327	0.61631	0.0:0.8068:0.0:0.1932	.	503;503	Q99250-2;Q99250	.;SCN2A_HUMAN	K	503	ENSP00000406454:N503K;ENSP00000364586:N503K;ENSP00000349973:N503K;ENSP00000283256:N503K;ENSP00000364576:N503K	ENSP00000283256:N503K	N	+	3	2	SCN2A	165880352	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.578000	0.36525	0.418000	0.25898	-0.813000	0.03139	AAC		PASS	0.383	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		14	63	14	63	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166848358	166848358	+	Silent	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:166848358A>G	ENST00000303395.4	-	26	5426	c.5427T>C	c.(5425-5427)taT>taC	p.Y1809Y	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.Y1798Y|SCN1A_ENST00000409050.1_Silent_p.Y1781Y|SCN1A_ENST00000423058.2_Silent_p.Y1809Y			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1809			Missing (in EIEE6). {ECO:0000269|PubMed:12566275}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.Y1809Y(1)|p.Y1798Y(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCCAAACCTCATAGAACATCT	0.458																																						uc010zcz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(5392-5394)TAT>TAC		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						119.0	119.0	119.0					2																	166848358		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848358A>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5427T>C	2.37:g.166848358A>G							p.Y1798Y	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	5412	-			1809		Missing (in SMEI).	IV.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.5394T>C	CCDS54413.1																																																																																				PASS	0.458	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		34	118	34	118	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170042516	170042516	+	Silent	SNP	G	G	A	rs199803029	byFrequency	TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:170042516G>A	ENST00000263816.3	-	50	9627	c.9342C>T	c.(9340-9342)tgC>tgT	p.C3114C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3114	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.C3114C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AAGGGTCATGGCATTCATTAA	0.408													G|||	14	0.00279553	0.0	0.0	5008	,	,		20894	0.0		0.0	False		,,,				2504	0.0143					uc002ues.2																			1	Substitution - coding silent(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(9340-9342)TGC>TGT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						55.0	56.0	56.0					2																	170042516		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170042516G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9342C>T	2.37:g.170042516G>A							p.C3114C	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	50	9555	-			3114			EGF-like 11.|Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.9342C>T	CCDS2232.1																																																																																				PASS	0.408	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		35	39	35	39	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179500826	179500826	+	Silent	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:179500826G>T	ENST00000591111.1	-	176	36773	c.36549C>A	c.(36547-36549)ggC>ggA	p.G12183G	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.G4759G|TTN_ENST00000359218.5_Silent_p.G4884G|TTN_ENST00000342175.6_Silent_p.G4951G|TTN_ENST00000342992.6_Silent_p.G11256G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000589042.1_Silent_p.G13824G|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12183	Ig-like 81.				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.G11256G(2)|p.G4884G(1)|p.G4759G(1)|p.G4951G(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)			GCACAATTCGGCCAGGTTTCT	0.512																																						uc010zfg.1																			5	Substitution - coding silent(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.(33766-33768)GGC>GGA		titin isoform N2-A							87.0	88.0	88.0					2																	179500826		2053	4191	6244	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179500826G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36549C>A	2.37:g.179500826G>T						TTN_uc010zfh.1_Silent_p.G4951G|TTN_uc010zfi.1_Silent_p.G4884G|TTN_uc010zfj.1_Silent_p.G4759G	p.G11256G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		175	33992	-			12183					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.33768C>A																																																																																					PASS	0.512	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	63	16	63	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179600527	179600527	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:179600527C>G	ENST00000591111.1	-	48	13919	c.13695G>C	c.(13693-13695)ttG>ttC	p.L4565F	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L3638F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L4882F|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12322	Ig-like 25.				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.L3638F(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)			CAATGATGATCAACTCTGCTT	0.398																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10912-10914)TTG>TTC		titin isoform N2-A							90.0	83.0	85.0					2																	179600527		1876	4111	5987	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179600527C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13695G>C	2.37:g.179600527C>G	ENSP00000465570:p.Leu4565Phe					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L299F	p.L3638F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		47	11138	-			4565					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.10914G>C		.	.	.	.	.	.	.	.	.	.	C	5.647	0.303999	0.10678	.	.	ENSG00000155657	ENST00000342992	T	0.63580	-0.05	5.77	3.05	0.35203	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.76709	0.4025	M	0.88241	2.94	0.80722	D	1	D	0.63880	0.993	D	0.63877	0.919	T	0.75434	-0.3319	9	0.87932	D	0	.	5.975	0.19373	0.0:0.6021:0.126:0.2719	.	4565	Q8WZ42	TITIN_HUMAN	F	3638	ENSP00000343764:L3638F	ENSP00000343764:L3638F	L	-	3	2	TTN	179308772	0.981000	0.34729	0.499000	0.27577	0.539000	0.34962	0.962000	0.29280	0.470000	0.27294	0.655000	0.94253	TTG		PASS	0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	45	19	45	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179605786	179605786	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:179605786C>T	ENST00000591111.1	-	46	11447	c.11223G>A	c.(11221-11223)aaG>aaA	p.K3741K	TTN_ENST00000460472.2_Silent_p.K3695K|TTN_ENST00000359218.5_Silent_p.K3820K|TTN_ENST00000342175.6_Silent_p.K3887K|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.K4058K|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33905					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.K3820K(1)|p.K3820N(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)			CTGCGGGACCCTTTAAGGGTG	0.463																																						uc010zfh.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	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.(11659-11661)AAG>AAA		titin isoform novex-2							156.0	151.0	152.0					2																	179605786		1852	4103	5955	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605786C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11223G>A	2.37:g.179605786C>T						TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.K3820K|TTN_uc010zfj.1_Silent_p.K3695K|TTN_uc002umz.1_Intron	p.K3887K	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11885	-			3827					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.11661G>A																																																																																					PASS	0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		71	234	71	234	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179635938	179635938	+	Splice_Site	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:179635938C>A	ENST00000591111.1	-	34	8340	c.8116G>T	c.(8116-8118)Gct>Tct	p.A2706S	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Splice_Site_p.A2660S|TTN_ENST00000359218.5_Splice_Site_p.A2660S|TTN_ENST00000342175.6_Splice_Site_p.A2660S|TTN_ENST00000342992.6_Splice_Site_p.A2706S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Splice_Site_p.A2706S|TTN_ENST00000589042.1_Splice_Site_p.A2706S|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13033					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.A2660S(3)|p.A2706S(3)		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)			TGTTACTTGCCTTCAACTTTG	0.358																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	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.(8116-8118)GCT>TCT		titin isoform N2-A							139.0	128.0	132.0					2																	179635938		2203	4300	6503	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179635938C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8116+1G>T	2.37:g.179635938C>A						TTN_uc010zfh.1_Missense_Mutation_p.A2660S|TTN_uc010zfi.1_Missense_Mutation_p.A2660S|TTN_uc010zfj.1_Missense_Mutation_p.A2660S|TTN_uc002unb.2_Missense_Mutation_p.A2706S	p.A2706S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		34	8340	-			2706					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.8116G>T		.	.	.	.	.	.	.	.	.	.	C	14.11	2.438320	0.43326	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	6.17	5.29	0.74685	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83908	0.5356	M	0.80508	2.5	0.33974	D	0.647133	B;B;B;P;P	0.52692	0.41;0.41;0.41;0.955;0.837	B;B;B;P;P	0.52424	0.226;0.226;0.362;0.698;0.634	D	0.89594	0.3830	8	.	.	.	.	12.7878	0.57516	0.0:0.8679:0.0:0.1321	.	2660;2660;2660;2706;2706	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	S	2706;2660;2660;2660;2660;2706	ENSP00000343764:A2706S;ENSP00000434586:A2660S;ENSP00000340554:A2660S;ENSP00000352154:A2660S;ENSP00000354117:A2706S	.	A	-	1	0	TTN	179344183	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	4.944000	0.63561	1.602000	0.50124	0.655000	0.94253	GCT		PASS	0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Missense_Mutation	10	49	10	49	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179648829	179648829	+	Missense_Mutation	SNP	G	G	C	rs539652641		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:179648829G>C	ENST00000591111.1	-	16	2967	c.2743C>G	c.(2743-2745)Cgc>Ggc	p.R915G	TTN_ENST00000460472.2_Missense_Mutation_p.R869G|TTN_ENST00000359218.5_Missense_Mutation_p.R869G|TTN_ENST00000342175.6_Missense_Mutation_p.R869G|TTN_ENST00000342992.6_Missense_Mutation_p.R915G|TTN_ENST00000360870.5_Missense_Mutation_p.R915G|TTN_ENST00000589042.1_Missense_Mutation_p.R915G			Q8WZ42	TITIN_HUMAN	titin	33951					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.R869G(3)|p.R915G(3)		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)			ACTTCAAAGCGCTCTTCACGG	0.552																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	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.(2743-2745)CGC>GGC		titin isoform N2-A							143.0	116.0	125.0					2																	179648829		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179648829G>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.2743C>G	2.37:g.179648829G>C	ENSP00000465570:p.Arg915Gly					TTN_uc010zfh.1_Missense_Mutation_p.R869G|TTN_uc010zfi.1_Missense_Mutation_p.R869G|TTN_uc010zfj.1_Missense_Mutation_p.R869G|TTN_uc002unb.2_Missense_Mutation_p.R915G	p.R915G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		16	2967	-			915					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.2743C>G		.	.	.	.	.	.	.	.	.	.	G	12.64	1.998152	0.35226	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.63417	-0.04;0.2;0.18;0.17;0.3	5.52	4.63	0.57726	Ribonuclease H-like (1);	.	.	.	.	T	0.49949	0.1587	N	0.24115	0.695	0.21220	N	0.999752	B;B;B;B;P	0.35272	0.028;0.028;0.028;0.028;0.493	B;B;B;B;B	0.33846	0.037;0.037;0.037;0.037;0.171	T	0.49513	-0.8932	9	0.87932	D	0	.	13.6765	0.62458	0.0:0.0:0.7187:0.2813	.	869;869;869;915;915	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	G	915;869;869;869;869;915	ENSP00000343764:R915G;ENSP00000434586:R869G;ENSP00000340554:R869G;ENSP00000352154:R869G;ENSP00000354117:R915G	ENSP00000340554:R869G	R	-	1	0	TTN	179357074	0.074000	0.21230	0.860000	0.33809	0.114000	0.19823	2.602000	0.46257	1.457000	0.47850	0.655000	0.94253	CGC		PASS	0.552	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		47	64	47	64	---	---	---	---
DUSP19	142679	broad.mit.edu	37	2	183943829	183943829	+	Silent	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:183943829T>C	ENST00000354221.4	+	1	343	c.168T>C	c.(166-168)taT>taC	p.Y56Y	DUSP19_ENST00000342619.6_Silent_p.Y56Y|DUSP19_ENST00000469344.1_3'UTR	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	56					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)	p.Y56Y(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						GTTGTGGTTATGTGCAGGACC	0.453																																						uc002upd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(166-168)TAT>TAC		dual specificity phosphatase 19 isoform 1							186.0	187.0	187.0					2																	183943829		2203	4300	6503	SO:0001819	synonymous_variant	142679				JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity	g.chr2:183943829T>C	AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.168T>C	2.37:g.183943829T>C						DUSP19_uc010frp.2_Silent_p.Y56Y|DUSP19_uc010zfr.1_RNA|DUSP19_uc002upe.2_Silent_p.Y56Y	p.Y56Y	NM_080876	NP_543152	Q8WTR2	DUS19_HUMAN			1	543	+			56					B2RA79|Q547H4|Q8WYN4	Silent	SNP	ENST00000354221.4	37	c.168T>C	CCDS2289.1																																																																																				PASS	0.453	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255866.1			46	50	46	50	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185803426	185803426	+	Silent	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:185803426T>A	ENST00000302277.6	+	4	3897	c.3303T>A	c.(3301-3303)acT>acA	p.T1101T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1101							metal ion binding (GO:0046872)	p.T1101T(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCCATCACACTGTTTtgcagc	0.547																																						uc002uph.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(3301-3303)ACT>ACA		zinc finger protein 804A							82.0	83.0	83.0					2																	185803426		2203	4300	6503	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185803426T>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3303T>A	2.37:g.185803426T>A							p.T1101T	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3897	+			1101					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.3303T>A	CCDS2291.1																																																																																				PASS	0.547	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		25	88	25	88	---	---	---	---
PLCL1	5334	broad.mit.edu	37	2	198950611	198950611	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:198950611G>C	ENST00000428675.1	+	2	2768	c.2370G>C	c.(2368-2370)gaG>gaC	p.E790D	PLCL1_ENST00000437704.2_Missense_Mutation_p.E692D	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	790	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.E692D(2)|p.E790D(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ACCTACCTGAGCTGGCCATGA	0.393																																						uc010fsp.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|skin(1)	2						c.(2368-2370)GAG>GAC		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						147.0	139.0	142.0					2																	198950611		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950611G>C	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2370G>C	2.37:g.198950611G>C	ENSP00000402861:p.Glu790Asp					PLCL1_uc002uuv.3_Missense_Mutation_p.E711D	p.E790D	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	2661	+			790			C2.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2370G>C	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308946	0.40895	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.69306	-0.39;-0.39	5.36	3.58	0.41010	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.085770	0.50627	D	0.000119	T	0.67221	0.2870	L	0.37697	1.125	0.49389	D	0.999783	P;P	0.50272	0.933;0.933	P;P	0.59288	0.777;0.855	T	0.63084	-0.6716	9	.	.	.	.	9.0134	0.36155	0.2217:0.0:0.7783:0.0	.	790;716	Q15111;B4DYZ4	PLCL1_HUMAN;.	D	790;692	ENSP00000402861:E790D;ENSP00000414138:E692D	.	E	+	3	2	PLCL1	198658856	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.638000	0.37165	0.839000	0.34971	0.561000	0.74099	GAG		PASS	0.393	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		69	67	69	67	---	---	---	---
CLK1	1195	broad.mit.edu	37	2	201722523	201722523	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:201722523G>C	ENST00000321356.4	-	7	885	c.750C>G	c.(748-750)gaC>gaG	p.D250E	CLK1_ENST00000409769.2_Missense_Mutation_p.D73E|CLK1_ENST00000434813.2_Missense_Mutation_p.D292E	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.D292E(1)|p.D250E(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTTTAATGAAGTCGTAAGTAC	0.368																																						uc002uwe.2																			2	Substitution - Missense(2)		lung(2)	pancreas(2)	2						c.(748-750)GAC>GAG		CDC-like kinase 1 isoform 1							95.0	89.0	91.0					2																	201722523		2203	4300	6503	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201722523G>C	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.750C>G	2.37:g.201722523G>C	ENSP00000326830:p.Asp250Glu					CLK1_uc002uwd.2_Missense_Mutation_p.D73E|CLK1_uc010zhi.1_Missense_Mutation_p.D292E|CLK1_uc002uwf.2_Missense_Mutation_p.D24E|CLK1_uc002uwg.2_Missense_Mutation_p.D99E|CLK1_uc010fsv.2_RNA	p.D250E	NM_004071	NP_004062	P49759	CLK1_HUMAN			7	931	-			250			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.750C>G	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090400	0.55968	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.21932	1.98;1.98;1.98	5.2	0.258	0.15578	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.21062	0.0507	L	0.41236	1.265	0.50632	D	0.999888	B;P;B;B	0.42357	0.227;0.777;0.227;0.372	B;B;P;B	0.48227	0.329;0.329;0.571;0.149	T	0.01561	-1.1324	10	0.38643	T	0.18	.	8.9303	0.35666	0.4746:0.0:0.5254:0.0	.	292;220;250;73	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	E	250;220;73;292	ENSP00000326830:D250E;ENSP00000386358:D73E;ENSP00000394734:D292E	ENSP00000326830:D250E	D	-	3	2	CLK1	201430768	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	1.905000	0.39878	-0.168000	0.10853	0.563000	0.77884	GAC		PASS	0.368	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			21	48	21	48	---	---	---	---
MPP4	58538	broad.mit.edu	37	2	202550668	202550668	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:202550668A>T	ENST00000409474.3	-	6	673	c.466T>A	c.(466-468)Tgt>Agt	p.C156S	MPP4_ENST00000428900.2_Missense_Mutation_p.C156S|MPP4_ENST00000315506.7_Missense_Mutation_p.C156S|MPP4_ENST00000396886.3_Intron|MPP4_ENST00000359962.5_Missense_Mutation_p.C156S|MPP4_ENST00000447335.2_Missense_Mutation_p.C156S|MPP4_ENST00000409143.1_Missense_Mutation_p.C129S	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	156	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)		p.C156S(2)		kidney(1)|lung(11)	12						TTCACTAAACAAACAATCCTC	0.413																																						uc002uyk.3																			2	Substitution - Missense(2)		lung(2)		0						c.(466-468)TGT>AGT		membrane protein, palmitoylated 4							124.0	118.0	120.0					2																	202550668		1880	4102	5982	SO:0001583	missense	58538					cytoplasm	protein binding	g.chr2:202550668A>T	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.466T>A	2.37:g.202550668A>T	ENSP00000387278:p.Cys156Ser					MPP4_uc010ftj.2_Missense_Mutation_p.C156S|MPP4_uc010zhq.1_Missense_Mutation_p.C156S|MPP4_uc010zhr.1_Missense_Mutation_p.C156S|MPP4_uc010zhs.1_Intron|MPP4_uc002uyj.3_Intron|MPP4_uc010zht.1_Missense_Mutation_p.C129S|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.C156S|MPP4_uc002uym.1_Intron|MPP4_uc002uyn.2_Intron	p.C156S	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN			6	674	-			156			PDZ.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	c.466T>A	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	A	18.20	3.571233	0.65765	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000359962;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.04654	3.59;3.6;3.59;3.58;3.62;3.59	5.86	5.86	0.93980	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.13200	0.0320	L	0.38531	1.155	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.81914	0.988;0.995;0.995;0.992;0.995;0.993	T	0.32107	-0.9919	10	0.18710	T	0.47	.	16.255	0.82510	1.0:0.0:0.0:0.0	.	129;156;156;156;156;156	F6Q0Y6;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;Q96JB8	.;.;.;.;.;MPP4_HUMAN	S	156;156;156;156;129;156	ENSP00000387278:C156S;ENSP00000319363:C156S;ENSP00000353047:C156S;ENSP00000416781:C156S;ENSP00000387293:C129S;ENSP00000406160:C156S	ENSP00000319363:C156S	C	-	1	0	MPP4	202258913	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.036000	0.57304	2.240000	0.73641	0.533000	0.62120	TGT		PASS	0.413	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			34	114	34	114	---	---	---	---
NOP58	51602	broad.mit.edu	37	2	203167649	203167649	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:203167649G>A	ENST00000264279.5	+	14	1634	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	470	Lys-rich.				cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.E470K(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TTCAGTTgaagaagaggaaga	0.358																																						uc002uzb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1408-1410)GAA>AAA		NOP58 ribonucleoprotein homolog							64.0	67.0	66.0					2																	203167649		2203	4300	6503	SO:0001583	missense	51602				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding	g.chr2:203167649G>A		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.1408G>A	2.37:g.203167649G>A	ENSP00000264279:p.Glu470Lys						p.E470K	NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN			14	1558	+			470			Lys-rich.		Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	ENST00000264279.5	37	c.1408G>A	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676816	0.47886	.	.	ENSG00000055044	ENST00000264279	T	0.60797	0.16	4.41	4.41	0.53225	.	0.658624	0.15870	N	0.240573	T	0.35068	0.0919	N	0.08118	0	0.29801	N	0.832457	B	0.18461	0.028	B	0.15484	0.013	T	0.13415	-1.0510	10	0.15952	T	0.53	-16.8766	12.6805	0.56918	0.0:0.0:1.0:0.0	.	470	Q9Y2X3	NOP58_HUMAN	K	470	ENSP00000264279:E470K	ENSP00000264279:E470K	E	+	1	0	NOP58	202875894	0.999000	0.42202	0.962000	0.40283	0.749000	0.42624	3.706000	0.54830	2.459000	0.83118	0.655000	0.94253	GAA		PASS	0.358	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		49	51	49	51	---	---	---	---
NBEAL1	65065	broad.mit.edu	37	2	204066306	204066306	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:204066306G>C	ENST00000449802.1	+	49	7525	c.7192G>C	c.(7192-7194)Gag>Cag	p.E2398Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2398								p.E2398Q(1)|p.E1108Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCCCGGGCTAGAGATCACTTC	0.383																																						uc002uzt.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(7192-7194)GAG>CAG		neurobeachin-like 1 isoform 3							162.0	143.0	149.0					2																	204066306		1851	4108	5959	SO:0001583	missense	65065						binding	g.chr2:204066306G>C	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7192G>C	2.37:g.204066306G>C	ENSP00000399903:p.Glu2398Gln					NBEAL1_uc002uzs.3_Missense_Mutation_p.E1039Q	p.E2398Q	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN			49	7525	+			2398					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.7192G>C	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606637	0.28623	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.53640	0.61;1.18	5.87	4.99	0.66335	.	0.183419	0.64402	D	0.000019	T	0.46678	0.1405	L	0.49350	1.555	0.48696	D	0.999696	B;B	0.28971	0.145;0.229	B;B	0.38225	0.216;0.268	T	0.32161	-0.9917	10	0.13108	T	0.6	.	14.5253	0.67884	0.0709:0.0:0.9291:0.0	.	2398;2387	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	Q	2398;2329;413	ENSP00000399903:E2398Q;ENSP00000388466:E413Q	ENSP00000344985:E2329Q	E	+	1	0	NBEAL1	203774551	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	7.489000	0.81451	1.476000	0.48215	0.655000	0.94253	GAG		PASS	0.383	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			34	108	34	108	---	---	---	---
C2orf80	389073	broad.mit.edu	37	2	209045987	209045987	+	Silent	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:209045987T>C	ENST00000341287.4	-	5	444	c.249A>G	c.(247-249)agA>agG	p.R83R	C2orf80_ENST00000451346.1_Silent_p.R64R|C2orf80_ENST00000453017.1_Silent_p.R83R	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	83								p.R83R(1)		endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						CTTCTCGTTCTCTACGATTTG	0.353																																						uc002vcr.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(247-249)AGA>AGG		hypothetical protein LOC389073							126.0	115.0	119.0					2																	209045987		1835	4079	5914	SO:0001819	synonymous_variant	389073							g.chr2:209045987T>C	AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"""gonad development associated 1"""	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.249A>G	2.37:g.209045987T>C							p.R83R	NM_001099334	NP_001092804	Q0P641	CB080_HUMAN			5	421	-			83					A6NKZ3	Silent	SNP	ENST00000341287.4	37	c.249A>G	CCDS42809.1	.	.	.	.	.	.	.	.	.	.	T	5.288	0.238530	0.10023	.	.	ENSG00000188674	ENST00000428015	T	0.26957	1.7	4.97	2.45	0.29901	.	0.793921	0.11417	N	0.566151	T	0.25457	0.0619	.	.	.	0.37342	D	0.910432	.	.	.	.	.	.	T	0.35025	-0.9805	7	0.48119	T	0.1	-5.4118	1.7787	0.03027	0.1641:0.0925:0.1708:0.5725	.	.	.	.	G	35	ENSP00000408378:R35G	ENSP00000408378:R35G	R	-	1	2	C2orf80	208754232	0.330000	0.24705	0.788000	0.31933	0.559000	0.35586	0.479000	0.22228	1.031000	0.39867	0.460000	0.39030	AGA		PASS	0.353	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336931.1	NM_001099334		20	71	20	71	---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212426717	212426717	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:212426717G>A	ENST00000342788.4	-	20	2708	c.2398C>T	c.(2398-2400)Ccc>Tcc	p.P800S	ERBB4_ENST00000436443.1_Missense_Mutation_p.P800S|ERBB4_ENST00000402597.1_Missense_Mutation_p.P790S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	800	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P800S(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CAGCCATGGGGCATAAGTTGA	0.507										TSP Lung(8;0.080)																												uc002veg.1																			1	Substitution - Missense(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(2398-2400)CCC>TCC		v-erb-a erythroblastic leukemia viral oncogene							147.0	124.0	132.0					2																	212426717		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212426717G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2398C>T	2.37:g.212426717G>A	ENSP00000342235:p.Pro800Ser	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.P800S|ERBB4_uc010zji.1_Missense_Mutation_p.P790S|ERBB4_uc010zjj.1_Missense_Mutation_p.P790S|ERBB4_uc010fut.1_Missense_Mutation_p.P800S	p.P800S	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	20	2496	-		Renal(323;0.06)|Lung NSC(271;0.197)	800			Protein kinase.|Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2398C>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928525	0.92389	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.62788	0.0;0.0;0.0	5.12	5.12	0.69794	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73830	0.3637	L	0.39467	1.215	0.80722	D	1	D;P;D;D	0.89917	1.0;0.654;1.0;1.0	D;P;D;D	0.85130	0.995;0.636;0.994;0.997	T	0.76468	-0.2948	10	0.87932	D	0	.	18.9378	0.92592	0.0:0.0:1.0:0.0	.	790;790;800;800	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	S	800;800;790	ENSP00000342235:P800S;ENSP00000403204:P800S;ENSP00000385565:P790S	ENSP00000342235:P800S	P	-	1	0	ERBB4	212134962	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.550000	0.86006	0.655000	0.94253	CCC		PASS	0.507	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		45	70	45	70	---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	215274882	215274882	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:215274882C>A	ENST00000331683.5	+	16	1834	c.1739C>A	c.(1738-1740)gCa>gAa	p.A580E	VWC2L_ENST00000427124.1_5'Flank|SPAG16_ENST00000374309.3_Missense_Mutation_p.A486E|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000312504.5_5'Flank	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	580					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.A580E(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTAGCTCAGGCAAGTGGCAAT	0.423																																						uc002veq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1738-1740)GCA>GAA		sperm associated antigen 16 isoform 1							84.0	82.0	83.0					2																	215274882		2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:215274882C>A	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1739C>A	2.37:g.215274882C>A	ENSP00000332592:p.Ala580Glu					SPAG16_uc002ver.2_Missense_Mutation_p.A526E|SPAG16_uc010zjk.1_Missense_Mutation_p.A486E|VWC2L_uc002vet.2_5'Flank|VWC2L_uc010zjl.1_5'Flank	p.A580E	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	16	1831	+		Renal(323;0.00461)	580			WD 6.		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.1739C>A	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301172	0.60195	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	D;D;D	0.83163	-1.67;-1.67;-1.69	5.19	5.19	0.71726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.53938	D	0.000044	D	0.91971	0.7457	M	0.85299	2.745	0.47308	D	0.999389	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.98;0.994	D	0.93059	0.6472	10	0.87932	D	0	.	17.2593	0.87065	0.0:1.0:0.0:0.0	.	486;520;580	B4DYB5;Q4G1A2;Q8N0X2	.;.;SPG16_HUMAN	E	580;486;204	ENSP00000332592:A580E;ENSP00000363428:A486E;ENSP00000416600:A204E	ENSP00000332592:A580E	A	+	2	0	SPAG16	214983127	0.998000	0.40836	0.966000	0.40874	0.447000	0.32167	4.606000	0.61126	2.579000	0.87056	0.563000	0.77884	GCA		PASS	0.423	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		17	55	17	55	---	---	---	---
VWC2L	402117	broad.mit.edu	37	2	215440412	215440412	+	Silent	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:215440412A>T	ENST00000312504.5	+	4	1339	c.537A>T	c.(535-537)gcA>gcT	p.A179A	VWC2L_ENST00000427124.1_Missense_Mutation_p.Q136L|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	179					negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.A179A(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						ACTGCTTTGCAGGAACGACGA	0.478																																						uc002vet.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(535-537)GCA>GCT		von Willebrand factor C domain-containing							186.0	179.0	181.0					2																	215440412		1981	4193	6174	SO:0001819	synonymous_variant	402117					extracellular region		g.chr2:215440412A>T	AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"""von Willebrand factor C domain-containing protein 2-like"""				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.537A>T	2.37:g.215440412A>T						VWC2L_uc010zjl.1_Missense_Mutation_p.Q136L	p.A179A	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN			4	667	+			179					A6NC69|B2RUW7|B7X8X1	Silent	SNP	ENST00000312504.5	37	c.537A>T	CCDS46509.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.013965	0.35511	.	.	ENSG00000174453	ENST00000427124	.	.	.	5.78	3.36	0.38483	.	.	.	.	.	T	0.32102	0.0818	.	.	.	0.27452	N	0.953394	B	0.02656	0.0	B	0.01281	0.0	T	0.26573	-1.0099	7	0.66056	D	0.02	-2.3055	7.3479	0.26674	0.7476:0.1217:0.1307:0.0	.	136	B7ZW27	.	L	136	.	ENSP00000403779:Q136L	Q	+	2	0	VWC2L	215148657	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.950000	0.29122	0.431000	0.26258	-0.256000	0.11100	CAG		PASS	0.478	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500		40	91	40	91	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216289835	216289835	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:216289835C>T	ENST00000359671.1	-	7	1283	c.1018G>A	c.(1018-1020)Gtc>Atc	p.V340I	FN1_ENST00000443816.1_Missense_Mutation_p.V340I|FN1_ENST00000356005.4_Missense_Mutation_p.V340I|FN1_ENST00000426059.1_Missense_Mutation_p.V340I|FN1_ENST00000357867.4_Missense_Mutation_p.V340I|FN1_ENST00000432072.2_Missense_Mutation_p.V340I|FN1_ENST00000446046.1_Missense_Mutation_p.V340I|FN1_ENST00000357009.2_Missense_Mutation_p.V340I|FN1_ENST00000346544.3_Missense_Mutation_p.V340I|FN1_ENST00000354785.4_Missense_Mutation_p.V340I|FN1_ENST00000323926.6_Missense_Mutation_p.V340I|FN1_ENST00000336916.4_Missense_Mutation_p.V340I|FN1_ENST00000345488.5_Missense_Mutation_p.V340I|FN1_ENST00000421182.1_Missense_Mutation_p.V340I			P02751	FINC_HUMAN	fibronectin 1	340	Collagen-binding.|Fibronectin type-I 6. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.V340I(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TGGCAGCTGACTCCGTTGCCC	0.428																																						uc002vfa.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(1018-1020)GTC>ATC		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						190.0	198.0	195.0					2																	216289835		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216289835C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1018G>A	2.37:g.216289835C>T	ENSP00000352696:p.Val340Ile					FN1_uc002vfb.2_Missense_Mutation_p.V340I|FN1_uc002vfc.2_Missense_Mutation_p.V340I|FN1_uc002vfd.2_Missense_Mutation_p.V340I|FN1_uc002vfe.2_Missense_Mutation_p.V340I|FN1_uc002vff.2_Missense_Mutation_p.V340I|FN1_uc002vfg.2_Missense_Mutation_p.V340I|FN1_uc002vfh.2_Missense_Mutation_p.V340I|FN1_uc002vfi.2_Missense_Mutation_p.V340I|FN1_uc002vfj.2_Missense_Mutation_p.V340I|FN1_uc002vfl.2_Missense_Mutation_p.V340I	p.V340I	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	1284	-		Renal(323;0.127)	340			Fibronectin type-I 6.|Collagen-binding.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1018G>A		.	.	.	.	.	.	.	.	.	.	C	17.64	3.440524	0.63067	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.83	4.96	0.65561	.	0.091899	0.46145	N	0.000317	T	0.46268	0.1384	N	0.25144	0.715	0.58432	D	0.999999	B;P;B;P;B;B;B;D;B;B;P	0.55385	0.023;0.882;0.003;0.8;0.018;0.005;0.068;0.971;0.018;0.018;0.803	B;P;B;B;B;B;B;P;B;B;P	0.62560	0.015;0.877;0.004;0.269;0.005;0.009;0.064;0.642;0.005;0.005;0.904	T	0.31971	-0.9924	10	0.22706	T	0.39	.	14.9222	0.70847	0.0:0.9316:0.0:0.0684	.	340;340;340;340;340;340;340;340;340;340;340	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	I	340	ENSP00000394423:V340I;ENSP00000323534:V340I;ENSP00000338200:V340I;ENSP00000350534:V340I;ENSP00000346839:V340I;ENSP00000352696:V340I;ENSP00000265312:V340I;ENSP00000273049:V340I;ENSP00000349509:V340I;ENSP00000410422:V340I;ENSP00000415018:V340I;ENSP00000399538:V340I;ENSP00000348285:V340I;ENSP00000398907:V340I	ENSP00000265313:V340I	V	-	1	0	FN1	215998080	0.930000	0.31532	0.999000	0.59377	0.996000	0.88848	1.824000	0.39072	1.481000	0.48307	0.563000	0.77884	GTC		PASS	0.428	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		79	154	79	154	---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227663167	227663167	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:227663167C>A	ENST00000305123.5	-	1	1308	c.288G>T	c.(286-288)gcG>gcT	p.A96A	RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	96	Mediates interaction with PHIP. {ECO:0000250}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.A96A(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGCTGTCCGCCGCGATGGCAA	0.637											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002voh.3																			2	Substitution - coding silent(2)		lung(2)	lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(286-288)GCG>GCT		insulin receptor substrate 1							71.0	86.0	81.0					2																	227663167		2202	4300	6502	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227663167C>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.288G>T	2.37:g.227663167C>A			OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.A96A	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	340	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	96			PH.|Mediates interaction with PHIP (By similarity).			Silent	SNP	ENST00000305123.5	37	c.288G>T	CCDS2463.1																																																																																				PASS	0.637	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		26	72	26	72	---	---	---	---
COL4A3	1285	broad.mit.edu	37	2	228115904	228115904	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:228115904C>A	ENST00000396578.3	+	10	757	c.595C>A	c.(595-597)Cct>Act	p.P199T	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	199	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.P199T(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCCACCTGGTCCTCCGGGATT	0.368																																						uc002vom.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(595-597)CCT>ACT		alpha 3 type IV collagen isoform 1 precursor							61.0	57.0	58.0					2																	228115904		1806	4070	5876	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228115904C>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.595C>A	2.37:g.228115904C>A	ENSP00000379823:p.Pro199Thr					COL4A3_uc002von.1_Missense_Mutation_p.P199T|COL4A3_uc002voo.1_Missense_Mutation_p.P199T|COL4A3_uc002vop.1_Missense_Mutation_p.P199T|uc002voq.1_Intron|uc002vor.1_Intron	p.P199T	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	10	757	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	199			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.595C>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321007	0.41096	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93133	-3.17	5.24	4.35	0.52113	.	0.503411	0.18540	N	0.138229	D	0.96234	0.8772	M	0.85859	2.78	0.31346	N	0.683126	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.996;0.999;0.999;0.996	D	0.94115	0.7374	10	0.22706	T	0.39	.	11.4012	0.49871	0.1812:0.8188:0.0:0.0	.	199;199;199;199	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	T	199	ENSP00000379823:P199T	ENSP00000323334:P199T	P	+	1	0	COL4A3	227824148	0.972000	0.33761	0.970000	0.41538	0.679000	0.39708	1.773000	0.38563	1.307000	0.44944	0.563000	0.77884	CCT		PASS	0.368	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		23	60	23	60	---	---	---	---
CAPN10	11132	broad.mit.edu	37	2	241534701	241534701	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:241534701G>T	ENST00000391984.2	+	7	1454	c.1258G>T	c.(1258-1260)Gtg>Ttg	p.V420L	CAPN10_ENST00000391982.2_Missense_Mutation_p.V420L|CAPN10_ENST00000404753.3_Missense_Mutation_p.V420L|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.V420L|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	420	Domain III 1.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)	p.V420L(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CTACCAGGCTGTGGGTCTGCA	0.662																																						uc002vzk.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|lung(1)	6						c.(1258-1260)GTG>TTG		calpain 10 isoform a							34.0	35.0	34.0					2																	241534701		2202	4300	6502	SO:0001583	missense	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241534701G>T	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1258G>T	2.37:g.241534701G>T	ENSP00000375844:p.Val420Leu					CAPN10_uc010zoh.1_Missense_Mutation_p.V420L|CAPN10_uc002vzl.1_Missense_Mutation_p.V420L|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.V292L|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	p.V420L	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	7	1442	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	420			Domain III 1.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	ENST00000391984.2	37	c.1258G>T	CCDS42838.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458421	0.84317	.	.	ENSG00000142330	ENST00000391984;ENST00000391982;ENST00000404753;ENST00000354082	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	4.3	3.39	0.38822	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.066385	0.64402	D	0.000013	D	0.92153	0.7512	M	0.68952	2.095	0.33744	D	0.619803	D;P;P;P	0.63880	0.993;0.747;0.812;0.756	D;P;B;P	0.63381	0.914;0.68;0.355;0.587	D	0.94437	0.7655	10	0.87932	D	0	.	11.935	0.52868	0.0:0.1777:0.8223:0.0	.	420;420;420;420	B7Z6G3;B7WPF5;Q9HC96-3;Q9HC96	.;.;.;CAN10_HUMAN	L	420	ENSP00000375844:V420L;ENSP00000375842:V420L;ENSP00000384422:V420L;ENSP00000270362:V420L	ENSP00000270362:V420L	V	+	1	0	CAPN10	241183374	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	3.215000	0.51169	0.887000	0.36136	0.655000	0.94253	GTG		PASS	0.662	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		8	18	8	18	---	---	---	---
FARP2	9855	broad.mit.edu	37	2	242396180	242396180	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:242396180C>A	ENST00000264042.3	+	14	1600	c.1430C>A	c.(1429-1431)cCt>cAt	p.P477H	FARP2_ENST00000373287.4_Missense_Mutation_p.P477H|FARP2_ENST00000545004.1_Missense_Mutation_p.P477H	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	477	Pro-rich.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P477H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACGAAGAGTCCTCAGCCTTCT	0.597																																						uc002wbi.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1429-1431)CCT>CAT		FERM, RhoGEF and pleckstrin domain protein 2							107.0	105.0	106.0					2																	242396180		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242396180C>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1430C>A	2.37:g.242396180C>A	ENSP00000264042:p.Pro477His					FARP2_uc010zoq.1_Missense_Mutation_p.P477H|FARP2_uc010zor.1_Missense_Mutation_p.P477H	p.P477H	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	14	1547	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	477			Pro-rich.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.1430C>A	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240417	0.39598	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287	T;D;D	0.82167	-0.98;-1.58;-1.58	5.18	4.28	0.50868	.	0.551148	0.18122	N	0.151002	D	0.83128	0.5187	L	0.29908	0.895	0.40919	D	0.984292	D;D;D	0.65815	0.995;0.986;0.991	P;P;P	0.58873	0.847;0.824;0.541	T	0.82731	-0.0312	10	0.48119	T	0.1	.	12.1633	0.54115	0.1715:0.8285:0.0:0.0	.	477;477;477	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	H	477	ENSP00000264042:P477H;ENSP00000443876:P477H;ENSP00000362384:P477H	ENSP00000264042:P477H	P	+	2	0	FARP2	242044853	1.000000	0.71417	0.962000	0.40283	0.673000	0.39480	2.790000	0.47821	1.136000	0.42199	0.609000	0.83330	CCT		PASS	0.597	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			4	129	4	129	---	---	---	---
NGLY1	55768	broad.mit.edu	37	3	25792627	25792627	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:25792627G>A	ENST00000280700.5	-	4	780	c.620C>T	c.(619-621)tCa>tTa	p.S207L	NGLY1_ENST00000417874.2_Missense_Mutation_p.S165L|NGLY1_ENST00000428257.1_Missense_Mutation_p.S207L|NGLY1_ENST00000396649.3_Missense_Mutation_p.S207L|NGLY1_ENST00000422724.2_Missense_Mutation_p.S130L	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	207					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)	p.S207L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CTTTTCTTGTGATTTCCTTTT	0.348																																						uc003cdl.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(619-621)TCA>TTA		N-glycanase 1 isoform 1							177.0	170.0	173.0					3																	25792627		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25792627G>A	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.620C>T	3.37:g.25792627G>A	ENSP00000280700:p.Ser207Leu					NGLY1_uc010hfg.2_Missense_Mutation_p.S207L|NGLY1_uc003cdm.2_Missense_Mutation_p.S207L|NGLY1_uc011awo.1_Missense_Mutation_p.S165L|NGLY1_uc003cdk.2_RNA	p.S207L	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN			4	728	-			207					B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.620C>T	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021480	0.54576	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000422724;ENST00000417874	T;T;T;T;T;T	0.20069	2.19;2.19;2.19;2.19;2.1;2.19	5.76	3.83	0.44106	.	0.430246	0.25714	N	0.028787	T	0.17874	0.0429	L	0.40543	1.245	0.22648	N	0.998892	B;B;B;B	0.09022	0.001;0.001;0.001;0.002	B;B;B;B	0.12156	0.002;0.007;0.005;0.003	T	0.11494	-1.0585	10	0.59425	D	0.04	-4.0049	11.1636	0.48531	0.0713:0.1278:0.801:0.0	.	165;207;207;207	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	L	207;207;207;204;130;165	ENSP00000387430:S207L;ENSP00000280700:S207L;ENSP00000379886:S207L;ENSP00000307980:S204L;ENSP00000395878:S130L;ENSP00000389888:S165L	ENSP00000280700:S207L	S	-	2	0	NGLY1	25767631	0.997000	0.39634	0.961000	0.40146	0.382000	0.30200	3.542000	0.53625	2.721000	0.93114	0.591000	0.81541	TCA		PASS	0.348	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			21	8	21	8	---	---	---	---
CMTM7	112616	broad.mit.edu	37	3	32483427	32483427	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:32483427G>C	ENST00000334983.5	+	2	491	c.255G>C	c.(253-255)ttG>ttC	p.L85F	CMTM7_ENST00000349718.4_Missense_Mutation_p.L85F	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	85	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L85F(1)		endometrium(1)|large_intestine(1)|lung(2)	4						TTTGCGACTTGATAATGATCC	0.562																																						uc003cey.1																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)TTG>TTC		CKLF-like MARVEL transmembrane domain containing							225.0	188.0	200.0					3																	32483427		2203	4300	6503	SO:0001583	missense	112616				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr3:32483427G>C	AF479263	CCDS33730.1, CCDS33731.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000153551	ENSG00000153551			19178	protein-coding gene	gene with protein product		607890	"""chemokine-like factor super family 7"", ""chemokine-like factor superfamily 7"""	CKLFSF7			Standard	NM_138410		Approved	FLJ30992	uc003cey.1	Q96FZ5	OTTHUMG00000155869	ENST00000334983.5:c.255G>C	3.37:g.32483427G>C	ENSP00000335605:p.Leu85Phe					CMTM7_uc003cez.1_Missense_Mutation_p.L85F	p.L85F	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN			2	491	+			85			Helical; (Potential).|MARVEL.		Q5VLK1	Missense_Mutation	SNP	ENST00000334983.5	37	c.255G>C	CCDS33730.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704899	0.30232	.	.	ENSG00000153551	ENST00000334983;ENST00000349718;ENST00000465248	T	0.21543	2.0	5.5	2.68	0.31781	Marvel (1);MARVEL-like domain (1);	0.334237	0.27720	N	0.018132	T	0.10252	0.0251	L	0.27053	0.805	0.37781	D	0.927014	P;B	0.38078	0.617;0.089	B;B	0.36289	0.221;0.085	T	0.23297	-1.0192	10	0.02654	T	1	.	6.7635	0.23554	0.0715:0.1275:0.6689:0.1321	.	85;85	Q5VLK1;Q96FZ5	.;CKLF7_HUMAN	F	85;85;41	ENSP00000335605:L85F	ENSP00000335605:L85F	L	+	3	2	CMTM7	32458431	1.000000	0.71417	0.985000	0.45067	0.943000	0.58893	0.985000	0.29578	0.267000	0.21916	-0.293000	0.09583	TTG		PASS	0.562	CMTM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342084.1			65	40	65	40	---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38601752	38601752	+	Silent	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:38601752G>T	ENST00000333535.4	-	23	4280	c.4131C>A	c.(4129-4131)atC>atA	p.I1377I	SCN5A_ENST00000413689.1_Silent_p.I1377I|SCN5A_ENST00000455624.2_Silent_p.I1376I|SCN5A_ENST00000451551.2_Silent_p.I1323I|SCN5A_ENST00000423572.2_Silent_p.I1376I|SCN5A_ENST00000443581.1_Silent_p.I1376I|SCN5A_ENST00000425664.1_Silent_p.I1377I|SCN5A_ENST00000450102.2_Silent_p.I1323I|SCN5A_ENST00000414099.2_Silent_p.I1377I|SCN5A_ENST00000449557.2_Silent_p.I1323I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1377					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.I1377I(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGTTGTTCACGATGGTGTAGT	0.522																																						uc003cio.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(4129-4131)ATC>ATA		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						101.0	102.0	102.0					3																	38601752		2203	4300	6503	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38601752G>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4131C>A	3.37:g.38601752G>T						SCN5A_uc003cin.2_Silent_p.I1376I|SCN5A_uc003cil.3_Silent_p.I1377I|SCN5A_uc010hhi.2_Silent_p.I1377I|SCN5A_uc010hhk.2_Silent_p.I1376I|SCN5A_uc011ayr.1_Silent_p.I1323I|SCN5A_uc010hhj.1_Silent_p.I987I	p.I1377I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	23	4325	-	Medulloblastoma(35;0.163)		1377					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.4131C>A	CCDS46796.1																																																																																				PASS	0.522	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		19	12	19	12	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38888607	38888607	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:38888607C>T	ENST00000302328.3	-	26	5152	c.4954G>A	c.(4954-4956)Gcc>Acc	p.A1652T	SCN11A_ENST00000456224.3_Missense_Mutation_p.A1614T|SCN11A_ENST00000450244.1_Missense_Mutation_p.A1652T	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1652					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A1652T(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCAGGCAAGGCATCAGCAAAG	0.418																																						uc011ays.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(4954-4956)GCC>ACC		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						95.0	98.0	97.0					3																	38888607		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888607C>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4954G>A	3.37:g.38888607C>T	ENSP00000307599:p.Ala1652Thr						p.A1652T	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	5153	-			1652					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4954G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373338	0.24857	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.96073	-3.9;-3.9;-3.85	5.46	3.61	0.41365	.	0.235212	0.43579	D	0.000553	D	0.90882	0.7135	L	0.38953	1.18	0.36848	D	0.887772	P	0.39748	0.686	B	0.33392	0.163	D	0.88928	0.3371	10	0.28530	T	0.3	.	14.997	0.71439	0.2253:0.7747:0.0:0.0	.	1652	Q9UI33	SCNBA_HUMAN	T	1652;1652;1614	ENSP00000307599:A1652T;ENSP00000400945:A1652T;ENSP00000416757:A1614T	ENSP00000307599:A1652T	A	-	1	0	SCN11A	38863611	0.994000	0.37717	0.998000	0.56505	0.747000	0.42532	0.503000	0.22610	0.613000	0.30089	-0.271000	0.10264	GCC		PASS	0.418	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		50	26	50	26	---	---	---	---
ZNF619	285267	broad.mit.edu	37	3	40529090	40529090	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:40529090G>T	ENST00000314686.5	+	6	1446	c.1041G>T	c.(1039-1041)caG>caT	p.Q347H	ZNF619_ENST00000429348.2_Missense_Mutation_p.Q363H|ZNF619_ENST00000432264.2_Missense_Mutation_p.Q363H|ZNF619_ENST00000456778.1_Missense_Mutation_p.Q319H|ZNF619_ENST00000522736.1_Missense_Mutation_p.Q354H|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000447116.2_Missense_Mutation_p.Q403H|ZNF619_ENST00000521353.1_Missense_Mutation_p.Q403H			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	347					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.Q347H(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TTCAGCATCAGAGAATCCACA	0.468																																						uc011azb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1207-1209)CAG>CAT		zinc finger protein 619 isoform 1							69.0	72.0	71.0					3																	40529090		2203	4300	6503	SO:0001583	missense	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40529090G>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1041G>T	3.37:g.40529090G>T	ENSP00000322529:p.Gln347His					ZNF619_uc010hhz.2_Missense_Mutation_p.Q354H|ZNF619_uc003ckj.2_Missense_Mutation_p.Q347H|ZNF619_uc011azc.1_Missense_Mutation_p.Q363H|ZNF619_uc011azd.1_Missense_Mutation_p.Q319H|ZNF619_uc011aza.1_Missense_Mutation_p.Q305H	p.Q403H	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	1487	+			403					B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37	c.1209G>T		.	.	.	.	.	.	.	.	.	.	G	14.29	2.491051	0.44249	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21	2.71	0.748	0.18376	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32734	0.0839	M	0.71920	2.185	0.21445	N	0.999688	D;B;B;D;B;D	0.89917	1.0;0.096;0.096;0.985;0.044;1.0	D;B;B;P;B;D	0.91635	0.999;0.038;0.038;0.749;0.016;0.993	T	0.11348	-1.0591	9	0.56958	D	0.05	.	2.6566	0.05014	0.2774:0.2766:0.446:0.0	.	319;363;403;305;354;347	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	H	347;403;363;319;354;403;363	ENSP00000322529:Q347H;ENSP00000411132:Q403H;ENSP00000398024:Q363H;ENSP00000397232:Q319H;ENSP00000428004:Q354H;ENSP00000430705:Q403H;ENSP00000388710:Q363H	ENSP00000322529:Q347H	Q	+	3	2	ZNF619	40504094	0.000000	0.05858	0.996000	0.52242	0.995000	0.86356	0.172000	0.16704	0.453000	0.26858	0.563000	0.77884	CAG		PASS	0.468	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		27	23	27	23	---	---	---	---
SMARCC1	6599	broad.mit.edu	37	3	47704056	47704056	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:47704056C>G	ENST00000254480.5	-	20	2045	c.1926G>C	c.(1924-1926)tgG>tgC	p.W642C	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	642	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)	p.W642C(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		ACACTTTGTTCCAATCATCCT	0.398																																						uc003crq.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)	3						c.(1924-1926)TGG>TGC		SWI/SNF-related matrix-associated							100.0	92.0	94.0					3																	47704056		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47704056C>G	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1926G>C	3.37:g.47704056C>G	ENSP00000254480:p.Trp642Cys					SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.W533C	p.W642C	NM_003074	NP_003065	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	20	2044	-			642			SANT.		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.1926G>C	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195647	0.78902	.	.	ENSG00000173473	ENST00000254480	D	0.89746	-2.56	5.04	5.04	0.67666	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	D	0.97018	0.9026	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.98810	1.0743	10	0.87932	D	0	-7.4424	17.7277	0.88370	0.0:1.0:0.0:0.0	.	642	Q92922	SMRC1_HUMAN	C	642	ENSP00000254480:W642C	ENSP00000254480:W642C	W	-	3	0	SMARCC1	47679060	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.627000	0.83176	2.490000	0.84030	0.591000	0.81541	TGG		PASS	0.398	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			43	14	43	14	---	---	---	---
ATRIP	84126	broad.mit.edu	37	3	48501837	48501837	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:48501837A>G	ENST00000320211.3	+	8	1497	c.1384A>G	c.(1384-1386)Acc>Gcc	p.T462A	ATRIP_ENST00000357105.6_Missense_Mutation_p.T335A|ATRIP_ENST00000412052.1_Missense_Mutation_p.T369A|ATRIP_ENST00000346691.4_Missense_Mutation_p.T462A	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	462					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.T462A(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGGGTAGAGACCAACCCTGA	0.587								Other conserved DNA damage response genes																														uc003ctf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1384-1386)ACC>GCC	Other_conserved_DNA_damage_response_genes	ATR interacting protein isoform 1							97.0	96.0	96.0					3																	48501837		2203	4300	6503	SO:0001583	missense	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48501837A>G	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.1384A>G	3.37:g.48501837A>G	ENSP00000323099:p.Thr462Ala					ATRIP_uc011bbj.1_Missense_Mutation_p.T335A|ATRIP_uc003ctg.1_Missense_Mutation_p.T462A|TREX1_uc010hjy.2_Intron	p.T462A	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	8	1416	+			462					A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	37	c.1384A>G	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	A	1.507	-0.550612	0.03996	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.41758	1.58;1.57;0.99;1.58	5.65	1.14	0.20703	.	0.229393	0.45361	N	0.000374	T	0.07369	0.0186	N	0.00197	-1.87	0.24732	N	0.993084	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.28681	-1.0036	9	.	.	.	-7.1278	1.2335	0.01948	0.1839:0.1294:0.4073:0.2795	.	462;462	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	A	462;462;335;369	ENSP00000323099:T462A;ENSP00000302338:T462A;ENSP00000349620:T335A;ENSP00000400930:T369A	.	T	+	1	0	ATRIP	48476841	0.997000	0.39634	0.999000	0.59377	0.174000	0.22865	2.338000	0.43957	0.399000	0.25367	-1.074000	0.02243	ACC		PASS	0.587	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		41	22	41	22	---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48678785	48678785	+	Silent	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:48678785A>G	ENST00000164024.4	-	33	9277	c.8997T>C	c.(8995-8997)tcT>tcC	p.S2999S	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Silent_p.S3004S	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2999					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S2999S(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCGGCCCAGAGAAGTCTCAT	0.647																																						uc003cul.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(8995-8997)TCT>TCC		cadherin EGF LAG seven-pass G-type receptor 3							57.0	66.0	63.0					3																	48678785		2202	4299	6501	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48678785A>G	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8997T>C	3.37:g.48678785A>G						CELSR3_uc003cuf.1_Silent_p.S3097S|CELSR3_uc010hkf.2_Silent_p.S289S|CELSR3_uc010hkg.2_Silent_p.S982S	p.S2999S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	33	9278	-			2999			Cytoplasmic (Potential).		O75092	Silent	SNP	ENST00000164024.4	37	c.8997T>C	CCDS2775.1																																																																																				PASS	0.647	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		65	33	65	33	---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48696418	48696418	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:48696418T>A	ENST00000164024.4	-	1	3930	c.3650A>T	c.(3649-3651)cAg>cTg	p.Q1217L	CELSR3_ENST00000544264.1_Missense_Mutation_p.Q1217L	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1217	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.Q1217L(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TACCAGCAGCTGCAGCTCATT	0.572																																						uc003cul.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(3649-3651)CAG>CTG		cadherin EGF LAG seven-pass G-type receptor 3							69.0	58.0	62.0					3																	48696418		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48696418T>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3650A>T	3.37:g.48696418T>A	ENSP00000164024:p.Gln1217Leu					CELSR3_uc003cuf.1_Missense_Mutation_p.Q1287L	p.Q1217L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	3931	-			1217			Extracellular (Potential).|Cadherin 9.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.3650A>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.053011	0.36181	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.38722	1.12;1.12	5.44	5.44	0.79542	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.24122	0.0584	N	0.14661	0.345	0.39278	D	0.964508	B;P	0.38335	0.133;0.627	B;B	0.32677	0.119;0.15	T	0.16630	-1.0396	9	0.54805	T	0.06	.	9.9443	0.41600	0.0:0.0759:0.0:0.9241	.	1217;1287	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	L	1217	ENSP00000164024:Q1217L;ENSP00000445694:Q1217L	ENSP00000164024:Q1217L	Q	-	2	0	CELSR3	48671422	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.818000	0.62657	2.071000	0.62044	0.459000	0.35465	CAG		PASS	0.572	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		25	9	25	9	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53752342	53752342	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:53752342A>T	ENST00000350061.5	+	10	1916	c.1405A>T	c.(1405-1407)Agc>Tgc	p.S469C	CACNA1D_ENST00000422281.2_Missense_Mutation_p.S469C|CACNA1D_ENST00000288139.4_Missense_Mutation_p.S469C	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	469					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.S469C(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CATGCCCACCAGCGAGACTGA	0.627																																						uc003dgv.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(1405-1407)AGC>TGC		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						130.0	113.0	118.0					3																	53752342		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53752342A>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1405A>T	3.37:g.53752342A>T	ENSP00000288133:p.Ser469Cys					CACNA1D_uc003dgu.3_Missense_Mutation_p.S469C|CACNA1D_uc003dgy.3_Missense_Mutation_p.S469C|CACNA1D_uc003dgw.3_Missense_Mutation_p.S116C	p.S469C	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	10	1568	+			469			Cytoplasmic (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.1405A>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.477442	0.84640	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39	5.44	5.44	0.79542	.	4.530330	0.00669	N	0.000625	D	0.98074	0.9365	M	0.93016	3.37	0.80722	D	1	D;D;P;D	0.89917	0.999;0.966;0.913;1.0	D;P;B;D	0.97110	0.94;0.541;0.423;1.0	D	0.89648	0.3867	10	0.87932	D	0	.	14.6721	0.68951	1.0:0.0:0.0:0.0	.	469;142;469;469	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	C	469;469;469;142	ENSP00000288133:S469C;ENSP00000288139:S469C;ENSP00000409174:S469C;ENSP00000418014:S142C	ENSP00000288139:S469C	S	+	1	0	CACNA1D	53727382	1.000000	0.71417	0.998000	0.56505	0.841000	0.47740	9.033000	0.93741	2.063000	0.61619	0.533000	0.62120	AGC		PASS	0.627	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		43	20	43	20	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64627625	64627625	+	Silent	SNP	G	G	A	rs375921755		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:64627625G>A	ENST00000498707.1	-	12	2097	c.1755C>T	c.(1753-1755)ccC>ccT	p.P585P	ADAMTS9_ENST00000295903.4_Silent_p.P557P	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	585	Disintegrin.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P585P(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CATCTGTCACGGGGACATCCA	0.493																																						uc003dmg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(1753-1755)CCC>CCT		ADAM metallopeptidase with thrombospondin type 1		G		0,4406		0,0,2203	128.0	123.0	124.0		1755	-11.1	0.1	3		124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS9	NM_182920.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		585/1936	64627625	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64627625G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.1755C>T	3.37:g.64627625G>A						ADAMTS9_uc011bfo.1_Silent_p.P557P|ADAMTS9_uc003dmh.1_Silent_p.P414P|ADAMTS9_uc003dmk.1_Silent_p.P585P	p.P585P	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	12	1787	-		Lung NSC(201;0.00682)	585			Disintegrin.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	ENST00000498707.1	37	c.1755C>T	CCDS2903.1																																																																																				PASS	0.493	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			90	33	90	33	---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74344369	74344369	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:74344369G>T	ENST00000263665.6	-	18	2447	c.2420C>A	c.(2419-2421)tCt>tAt	p.S807Y		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	807	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.S807Y(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AGAGACTTGAGATGGGGCCAC	0.368																																						uc003dpm.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(2419-2421)TCT>TAT		contactin 3 precursor							89.0	84.0	86.0					3																	74344369		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74344369G>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2420C>A	3.37:g.74344369G>T	ENSP00000263665:p.Ser807Tyr						p.S807Y	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	18	2500	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	807			Fibronectin type-III 3.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2420C>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969070	0.53614	.	.	ENSG00000113805	ENST00000263665	T	0.59083	0.29	5.63	4.74	0.60224	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.307323	0.37053	N	0.002276	T	0.75117	0.3806	M	0.82323	2.585	0.23602	N	0.997315	D	0.54601	0.967	P	0.59115	0.852	T	0.71530	-0.4565	10	0.72032	D	0.01	.	16.2965	0.82776	0.0:0.1326:0.8674:0.0	.	807	Q9P232	CNTN3_HUMAN	Y	807	ENSP00000263665:S807Y	ENSP00000263665:S807Y	S	-	2	0	CNTN3	74427059	0.331000	0.24713	0.974000	0.42286	0.975000	0.68041	1.777000	0.38604	1.324000	0.45282	0.650000	0.86243	TCT		PASS	0.368	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		34	26	34	26	---	---	---	---
CADM2	253559	broad.mit.edu	37	3	85961688	85961688	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:85961688T>C	ENST00000407528.2	+	5	730	c.668T>C	c.(667-669)aTa>aCa	p.I223T	CADM2_ENST00000383699.3_Missense_Mutation_p.I232T|CADM2_ENST00000405615.2_Missense_Mutation_p.I225T	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	223					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.I232T(1)|p.I225T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GTGCTAGAAATACACTGTAAG	0.458																																						uc003dqj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(667-669)ATA>ACA		immunoglobulin superfamily, member 4D							100.0	88.0	92.0					3																	85961688		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85961688T>C	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.668T>C	3.37:g.85961688T>C	ENSP00000384575:p.Ile223Thr					CADM2_uc003dqk.2_Missense_Mutation_p.I232T|CADM2_uc003dql.2_Missense_Mutation_p.I225T	p.I223T	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	5	1294	+		Lung NSC(201;0.0148)	223			Extracellular (Potential).		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.668T>C	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.501448	0.64298	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	D;D;D	0.87179	-2.22;-2.22;-2.22	5.5	5.5	0.81552	Immunoglobulin-like fold (1);	0.044409	0.85682	D	0.000000	D	0.85561	0.5725	L	0.53249	1.67	0.53688	D	0.999971	P;P;P	0.46064	0.859;0.804;0.872	B;B;B	0.41412	0.356;0.292;0.24	D	0.87600	0.2496	10	0.87932	D	0	.	15.6018	0.76631	0.0:0.0:0.0:1.0	.	225;232;223	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	T	232;223;225	ENSP00000373200:I232T;ENSP00000384575:I223T;ENSP00000384193:I225T	ENSP00000373200:I232T	I	+	2	0	CADM2	86044378	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.526000	0.81920	2.088000	0.63022	0.482000	0.46254	ATA		PASS	0.458	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		28	18	28	18	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89498461	89498461	+	Silent	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:89498461G>T	ENST00000336596.2	+	14	2658	c.2433G>T	c.(2431-2433)ggG>ggT	p.G811G	EPHA3_ENST00000494014.1_Silent_p.G811G	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	811	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.G811G(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GGAGTTATGGGATTGTTCTCT	0.448										TSP Lung(6;0.00050)																												uc003dqy.2																			1	Substitution - coding silent(1)		lung(1)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(2431-2433)GGG>GGT		ephrin receptor EphA3 isoform a precursor							258.0	237.0	244.0					3																	89498461		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89498461G>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2433G>T	3.37:g.89498461G>T		TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.G811G	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	14	2658	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	811			Cytoplasmic (Potential).|Protein kinase.		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.2433G>T	CCDS2922.1																																																																																				PASS	0.448	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		61	35	61	35	---	---	---	---
TBC1D23	55773	broad.mit.edu	37	3	100018091	100018091	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:100018091C>T	ENST00000394144.4	+	10	1015	c.1008C>T	c.(1006-1008)gtC>gtT	p.V336V	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Silent_p.V336V|TBC1D23_ENST00000475134.1_Silent_p.V199V	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	336	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.V336V(2)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AGGAAGGAGTCCGGTTCTTTG	0.398																																						uc003dtt.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|liver(1)	2						c.(1006-1008)GTC>GTT		TBC1 domain family, member 23							131.0	120.0	124.0					3																	100018091		2203	4300	6503	SO:0001819	synonymous_variant	55773					intracellular	Rab GTPase activator activity	g.chr3:100018091C>T	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1008C>T	3.37:g.100018091C>T						TBC1D23_uc003dts.2_Silent_p.V336V	p.V336V	NM_018309	NP_060779	Q9NUY8	TBC23_HUMAN			10	1185	+			336			Rhodanese.		B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Silent	SNP	ENST00000394144.4	37	c.1008C>T	CCDS56265.1																																																																																				PASS	0.398	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		33	33	33	33	---	---	---	---
CBLB	868	broad.mit.edu	37	3	105439079	105439079	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:105439079C>A	ENST00000264122.4	-	10	1540	c.1219G>T	c.(1219-1221)Ggc>Tgc	p.G407C	CBLB_ENST00000403724.1_Missense_Mutation_p.G407C|CBLB_ENST00000405772.1_Missense_Mutation_p.G407C|CBLB_ENST00000394027.3_Missense_Mutation_p.G429C|CBLB_ENST00000545639.1_3'UTR	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	407					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G407C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AAAGGGCAGCCCTGACCATCC	0.408			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	uc003dwc.2				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(1219-1221)GGC>TGC		Cas-Br-M (murine) ecotropic retroviral							58.0	53.0	55.0					3																	105439079		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105439079C>A	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1219G>T	3.37:g.105439079C>A	ENSP00000264122:p.Gly407Cys					CBLB_uc011bhi.1_Missense_Mutation_p.G429C|CBLB_uc003dwd.1_Missense_Mutation_p.G407C|CBLB_uc003dwe.1_Missense_Mutation_p.G407C|CBLB_uc011bhj.1_RNA	p.G407C	NM_170662	NP_733762	Q13191	CBLB_HUMAN			10	1541	-			407			RING-type.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.1219G>T	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992311	0.93167	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	6.03	6.03	0.97812	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.79724	0.4495	N	0.05351	-0.065	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	D	0.83877	0.0277	10	0.87932	D	0	-15.434	20.5753	0.99366	0.0:1.0:0.0:0.0	.	429;407;407	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	C	407;429;407;407	ENSP00000264122:G407C;ENSP00000377595:G429C;ENSP00000384816:G407C;ENSP00000384938:G407C	ENSP00000264122:G407C	G	-	1	0	CBLB	106921769	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.445000	0.80570	2.868000	0.98415	0.557000	0.71058	GGC		PASS	0.408	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		18	16	18	16	---	---	---	---
RETNLB	84666	broad.mit.edu	37	3	108475364	108475364	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:108475364A>T	ENST00000295755.6	-	2	397	c.199T>A	c.(199-201)Tgc>Agc	p.C67S	RETNLB_ENST00000482939.1_5'UTR	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	67					cell proliferation (GO:0008283)	extracellular region (GO:0005576)		p.C67S(1)		endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CCAGCAGGGCAGGAGGACGGT	0.547																																						uc003dxh.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(199-201)TGC>AGC		resistin like beta precursor							154.0	122.0	133.0					3																	108475364		2203	4300	6503	SO:0001583	missense	84666				cell proliferation	extracellular region	hormone activity	g.chr3:108475364A>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.199T>A	3.37:g.108475364A>T	ENSP00000295755:p.Cys67Ser						p.C67S	NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN			2	297	-			67					Q14D27	Missense_Mutation	SNP	ENST00000295755.6	37	c.199T>A	CCDS2953.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.862375	0.51482	.	.	ENSG00000163515	ENST00000295755	T	0.67171	-0.25	4.06	2.86	0.33363	.	0.398318	0.21468	N	0.074045	T	0.77465	0.4134	M	0.76170	2.325	0.29506	N	0.854547	D	0.76494	0.999	D	0.83275	0.996	T	0.71126	-0.4683	10	0.87932	D	0	.	6.5062	0.22196	0.7847:0.0:0.0:0.2153	.	67	Q9BQ08	RETNB_HUMAN	S	67	ENSP00000295755:C67S	ENSP00000295755:C67S	C	-	1	0	RETNLB	109958054	0.991000	0.36638	0.223000	0.23860	0.024000	0.10985	2.477000	0.45180	0.588000	0.29660	0.523000	0.50628	TGC		PASS	0.547	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355093.1			13	60	13	60	---	---	---	---
DPPA4	55211	broad.mit.edu	37	3	109049497	109049497	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:109049497G>T	ENST00000335658.6	-	5	607	c.553C>A	c.(553-555)Ctc>Atc	p.L185I	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	185					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.L185I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCCTCAAGGAGAGCAGTGGAA	0.572																																						uc003dxq.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(553-555)CTC>ATC		developmental pluripotency associated 4							71.0	76.0	75.0					3																	109049497		2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109049497G>T	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.553C>A	3.37:g.109049497G>T	ENSP00000335306:p.Leu185Ile					DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.L185I	p.L185I	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			5	608	-			185					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.553C>A	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206298	0.58343	.	.	ENSG00000121570	ENST00000335658	T	0.24908	1.83	3.99	3.11	0.35812	.	.	.	.	.	T	0.43211	0.1237	M	0.64997	1.995	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.983	T	0.10965	-1.0607	8	.	.	.	-5.4111	7.5765	0.27939	0.1148:0.0:0.8852:0.0	.	175;185	B7Z5Q7;Q7L190	.;DPPA4_HUMAN	I	185	ENSP00000335306:L185I	.	L	-	1	0	DPPA4	110532187	0.000000	0.05858	0.011000	0.14972	0.380000	0.30137	0.135000	0.15952	1.255000	0.44051	0.563000	0.77884	CTC		PASS	0.572	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		29	90	29	90	---	---	---	---
POGLUT1	56983	broad.mit.edu	37	3	119198946	119198946	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:119198946G>A	ENST00000295588.4	+	5	589	c.505G>A	c.(505-507)Ggg>Agg	p.G169R		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	169					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)	p.G169R(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						ATTTTGGGAAGGGGGACCTGC	0.433																																						uc003ecm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(505-507)GGG>AGG		KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor							134.0	121.0	126.0					3																	119198946		2203	4300	6503	SO:0001583	missense	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119198946G>A	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.505G>A	3.37:g.119198946G>A	ENSP00000295588:p.Gly169Arg					KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Missense_Mutation_p.G10R	p.G169R	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN		GBM - Glioblastoma multiforme(114;0.233)	5	589	+			169					B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	ENST00000295588.4	37	c.505G>A	CCDS2988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.354146|4.354146	0.82243|0.82243	.|.	.|.	ENSG00000163389|ENSG00000163389	ENST00000295588|ENST00000476573	T|.	0.34275|.	1.37|.	4.96|4.96	4.08|4.08	0.47627|0.47627	.|.	0.052028|.	0.85682|.	N|.	0.000000|.	T|T	0.74261|0.74261	0.3693|0.3693	M|M	0.84948|0.84948	2.725|2.725	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.75671|0.75671	-0.3237|-0.3237	10|5	0.33940|.	T|.	0.23|.	-15.7758|-15.7758	8.9964|8.9964	0.36055|0.36055	0.0997:0.0:0.9003:0.0|0.0997:0.0:0.9003:0.0	.|.	169|.	Q8NBL1|.	PGLT1_HUMAN|.	R|K	169|155	ENSP00000295588:G169R|.	ENSP00000295588:G169R|.	G|R	+|+	1|2	0|0	POGLUT1|POGLUT1	120681636|120681636	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.166000|9.166000	0.94766|0.94766	1.310000|1.310000	0.45006|0.45006	0.655000|0.655000	0.94253|0.94253	GGG|AGG		PASS	0.433	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		39	49	39	49	---	---	---	---
HGD	3081	broad.mit.edu	37	3	120363167	120363167	+	Splice_Site	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:120363167T>A	ENST00000283871.5	-	10	1232	c.773A>T	c.(772-774)cAg>cTg	p.Q258L		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	258					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)	p.Q258L(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TTACTTTACCTGTTTGGCAGC	0.443																																						uc003edw.2																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM025359	HGD	M		c.(772-774)CAG>CTG		homogentisate 1,2-dioxygenase							129.0	125.0	126.0					3																	120363167		2203	4296	6499	SO:0001630	splice_region_variant	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120363167T>A		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.774+1A>T	3.37:g.120363167T>A						HGD_uc003edv.2_Missense_Mutation_p.Q117L	p.Q258L	NM_000187	NP_000178	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	10	1143	-			258					A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	c.773A>T	CCDS3000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.94|11.94	1.789075|1.789075	0.31685|0.31685	.|.	.|.	ENSG00000113924|ENSG00000113924	ENST00000283871|ENST00000494453	D|.	0.98807|.	-5.15|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Cupin, RmlC-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73171|0.73171	0.3553|0.3553	M|M	0.66439|0.66439	2.03|2.03	0.80722|0.80722	D|D	1|1	B|.	0.26935|.	0.164|.	B|.	0.36378|.	0.223|.	T|T	0.72134|0.72134	-0.4382|-0.4382	10|5	0.02654|.	T|.	1|.	-1.2165|-1.2165	15.6463|15.6463	0.77055|0.77055	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	258|.	Q93099|.	HGD_HUMAN|.	L|W	258|65	ENSP00000283871:Q258L|.	ENSP00000283871:Q258L|.	Q|R	-|-	2|1	0|2	HGD|HGD	121845857|121845857	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.866000|0.866000	0.49608|0.49608	7.245000|7.245000	0.78237|0.78237	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CAG|AGG		PASS	0.443	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1		Missense_Mutation	58	171	58	171	---	---	---	---
FBXO40	51725	broad.mit.edu	37	3	121341801	121341801	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:121341801C>A	ENST00000338040.4	+	3	1939	c.1525C>A	c.(1525-1527)Cat>Aat	p.H509N		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	509					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H509N(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CTGGTTCCAGCATCGATGCCC	0.483																																						uc003eeg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1525-1527)CAT>AAT		F-box protein 40							76.0	69.0	71.0					3																	121341801		2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121341801C>A	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1525C>A	3.37:g.121341801C>A	ENSP00000337510:p.His509Asn						p.H509N	NM_016298	NP_057382	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	1735	+			509					B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.1525C>A	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364995	0.61513	.	.	ENSG00000163833	ENST00000338040	T	0.29917	1.55	5.96	5.96	0.96718	.	0.156674	0.64402	D	0.000016	T	0.29684	0.0741	L	0.29908	0.895	0.46823	D	0.999211	P	0.47302	0.893	B	0.43301	0.415	T	0.02683	-1.1124	10	0.66056	D	0.02	-8.5514	17.913	0.88940	0.0:1.0:0.0:0.0	.	509	Q9UH90	FBX40_HUMAN	N	509	ENSP00000337510:H509N	ENSP00000337510:H509N	H	+	1	0	FBXO40	122824491	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.818000	0.86416	2.831000	0.97527	0.650000	0.86243	CAT		PASS	0.483	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		19	25	19	25	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124369677	124369677	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:124369677G>T	ENST00000291478.5	+	5	756	c.593G>T	c.(592-594)cGg>cTg	p.R198L	KALRN_ENST00000393496.1_Missense_Mutation_p.R236L|KALRN_ENST00000360013.3_Missense_Mutation_p.R1895L|KALRN_ENST00000428018.2_Missense_Mutation_p.R166L|KALRN_ENST00000459915.1_5'UTR	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1894					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R198L(1)|p.R1895L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCTCATACCGGGGGAGCTTG	0.507																																						uc003ehg.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(5683-5685)CGG>CTG		kalirin, RhoGEF kinase isoform 1							74.0	80.0	78.0					3																	124369677		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124369677G>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.593G>T	3.37:g.124369677G>T	ENSP00000291478:p.Arg198Leu					KALRN_uc003ehi.2_Missense_Mutation_p.R236L|KALRN_uc003ehk.2_Missense_Mutation_p.R198L|KALRN_uc011bjz.1_5'UTR|KALRN_uc003ehj.2_Missense_Mutation_p.R166L	p.R1895L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			38	5811	+			1894					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.5684G>T	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.222562|4.222562	0.79464|0.79464	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000360013;ENST00000393496;ENST00000291478;ENST00000454902;ENST00000428018	.|T;T;T;T	.|0.61040	.|0.14;0.75;0.19;0.23	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	.|0.329079	.|0.25264	.|N	.|0.031927	T|T	0.53642|0.53642	0.1809|0.1809	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|B;P;P	.|0.38827	.|0.173;0.467;0.649	.|B;B;B	.|0.31390	.|0.021;0.119;0.129	T|T	0.62826|0.62826	-0.6772|-0.6772	5|10	.|0.66056	.|D	.|0.02	.|.	17.9432|17.9432	0.89031|0.89031	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|198;236;1894	.|C9JQ37;O60229-5;O60229	.|.;.;KALRN_HUMAN	W|L	1864|1895;236;198;166;166	.|ENSP00000353109:R1895L;ENSP00000377134:R236L;ENSP00000291478:R198L;ENSP00000402419:R166L	.|ENSP00000291478:R198L	G|R	+|+	1|2	0|0	KALRN|KALRN	125852367|125852367	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.316000|5.316000	0.65815|0.65815	2.551000|2.551000	0.86045|0.86045	0.655000|0.655000	0.94253|0.94253	GGG|CGG		PASS	0.507	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		25	70	25	70	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130290070	130290070	+	Missense_Mutation	SNP	G	G	C	rs372152442		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:130290070G>C	ENST00000358511.6	+	6	2841	c.2810G>C	c.(2809-2811)cGg>cCg	p.R937P	COL6A6_ENST00000453409.2_Missense_Mutation_p.R937P	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	937	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R937P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAGGCCTTGCGGGACAAAGGC	0.557																																						uc010htl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2809-2811)CGG>CCG		collagen type VI alpha 6 precursor							63.0	63.0	63.0					3																	130290070		1971	4156	6127	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130290070G>C	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2810G>C	3.37:g.130290070G>C	ENSP00000351310:p.Arg937Pro						p.R937P	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			6	2841	+			937			VWFA 5.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2810G>C	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707512	0.48412	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.81247	-1.47;-1.47	4.82	4.82	0.62117	von Willebrand factor, type A (3);	0.000000	0.52532	D	0.000067	D	0.89649	0.6776	M	0.90595	3.13	0.09310	N	1	D	0.76494	0.999	D	0.70227	0.968	T	0.82686	-0.0334	10	0.59425	D	0.04	.	9.2736	0.37686	0.1654:0.0:0.8346:0.0	.	937	A6NMZ7	CO6A6_HUMAN	P	937	ENSP00000351310:R937P;ENSP00000399236:R937P	ENSP00000351310:R937P	R	+	2	0	COL6A6	131772760	0.109000	0.22037	0.874000	0.34290	0.921000	0.55340	2.334000	0.43920	2.403000	0.81681	0.561000	0.74099	CGG		PASS	0.557	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		38	34	38	34	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132241716	132241716	+	Silent	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:132241716T>C	ENST00000260818.6	+	49	5966	c.5718T>C	c.(5716-5718)gaT>gaC	p.D1906D		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1906					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.D1906D(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTTTCATGGATGCTATGAGAG	0.348																																						uc003eor.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(5716-5718)GAT>GAC		DnaJ (Hsp40) homolog, subfamily C, member 13							53.0	54.0	54.0					3																	132241716		2203	4299	6502	SO:0001819	synonymous_variant	23317						heat shock protein binding	g.chr3:132241716T>C	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.5718T>C	3.37:g.132241716T>C							p.D1906D	NM_015268	NP_056083	O75165	DJC13_HUMAN			49	5783	+			1906					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	c.5718T>C	CCDS33857.1																																																																																				PASS	0.348	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		26	30	26	30	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134825429	134825429	+	Silent	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:134825429A>T	ENST00000398015.3	+	4	1315	c.945A>T	c.(943-945)ccA>ccT	p.P315P	EPHB1_ENST00000493838.1_5'UTR|EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	315	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.P315P(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTGACCCTCCAGAAGTGGCAT	0.587																																						uc003eqt.2																			2	Substitution - coding silent(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(943-945)CCA>CCT		ephrin receptor EphB1 precursor							48.0	49.0	49.0					3																	134825429		1938	4142	6080	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134825429A>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.945A>T	3.37:g.134825429A>T						EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.Q204L|EPHB1_uc003equ.2_5'UTR	p.P315P	NM_004441	NP_004432	P54762	EPHB1_HUMAN			4	1165	+			315			Extracellular (Potential).|Cys-rich.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.945A>T	CCDS46921.1																																																																																				PASS	0.587	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		27	33	27	33	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128212	147128212	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:147128212C>A	ENST00000282928.4	+	1	1042	c.313C>A	c.(313-315)Cgg>Agg	p.R105R		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	105					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R105R(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GTTCCGCAACCGGGGTTTTGG	0.711																																						uc003ewe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(313-315)CGG>AGG		zinc finger protein of the cerebellum 1							13.0	16.0	15.0					3																	147128212		2051	4223	6274	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128212C>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.313C>A	3.37:g.147128212C>A							p.R105R	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1032	+			105					Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.313C>A	CCDS3136.1																																																																																				PASS	0.711	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		18	47	18	47	---	---	---	---
CPA3	1359	broad.mit.edu	37	3	148597673	148597673	+	Silent	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:148597673T>C	ENST00000296046.3	+	6	625	c.573T>C	c.(571-573)taT>taC	p.Y191Y	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	191					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.Y191Y(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GGTTTGTCTATCAGGTAAGTG	0.453																																						uc003ewm.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(571-573)TAT>TAC		carboxypeptidase A3 precursor							100.0	93.0	95.0					3																	148597673		2203	4300	6503	SO:0001819	synonymous_variant	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148597673T>C		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.573T>C	3.37:g.148597673T>C							p.Y191Y	NM_001870	NP_001861	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		6	625	+			191					Q96E94	Silent	SNP	ENST00000296046.3	37	c.573T>C	CCDS3138.1																																																																																				PASS	0.453	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		41	82	41	82	---	---	---	---
TSC22D2	9819	broad.mit.edu	37	3	150128173	150128173	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:150128173G>A	ENST00000361875.3	+	1	2052	c.1036G>A	c.(1036-1038)Gtg>Atg	p.V346M	TSC22D2_ENST00000361136.2_Missense_Mutation_p.V346M	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	346					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V346M(1)		cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGGCCCTGCAGTGGGCGCCCC	0.721																																						uc003exv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1036-1038)GTG>ATG		TSC22 domain family, member 2							7.0	8.0	7.0					3																	150128173		1923	3864	5787	SO:0001583	missense	9819						sequence-specific DNA binding transcription factor activity	g.chr3:150128173G>A	AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.1036G>A	3.37:g.150128173G>A	ENSP00000354543:p.Val346Met					TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Missense_Mutation_p.V346M	p.V346M	NM_014779	NP_055594	O75157	T22D2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		1	1386	+			346					D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	c.1036G>A	CCDS3149.1	.	.	.	.	.	.	.	.	.	.	G	1.687	-0.505047	0.04261	.	.	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.32515	1.49;1.45	3.91	-0.271	0.12922	.	0.855898	0.09755	N	0.760042	T	0.19644	0.0472	L	0.27053	0.805	0.09310	N	1	B;B	0.29805	0.257;0.167	B;B	0.30316	0.114;0.053	T	0.28267	-1.0049	10	0.56958	D	0.05	.	6.1192	0.20144	0.1794:0.2894:0.5312:0.0	.	346;346	O75157-2;O75157	.;T22D2_HUMAN	M	346	ENSP00000354543:V346M;ENSP00000354893:V346M	ENSP00000354893:V346M	V	+	1	0	TSC22D2	151610863	0.003000	0.15002	0.006000	0.13384	0.016000	0.09150	1.243000	0.32767	0.318000	0.23185	0.650000	0.86243	GTG		PASS	0.721	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		5	19	5	19	---	---	---	---
ERICH6	131831	broad.mit.edu	37	3	150384672	150384672	+	Missense_Mutation	SNP	G	G	T	rs373184930		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:150384672G>T	ENST00000295910.6	-	13	1682	c.1630C>A	c.(1630-1632)Cgt>Agt	p.R544S	FAM194A_ENST00000491361.1_Missense_Mutation_p.R398S	NM_152394.3	NP_689607.2												p.R544S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCAATATAACGGTTCAAAGCC	0.413																																						uc003eyg.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1630-1632)CGT>AGT		hypothetical protein LOC131831							129.0	125.0	126.0					3																	150384672		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150384672G>T																												ENST00000295910.6:c.1630C>A	3.37:g.150384672G>T	ENSP00000295910:p.Arg544Ser					FAM194A_uc003eyh.2_Missense_Mutation_p.R398S	p.R544S	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN			13	1687	-			544						Missense_Mutation	SNP	ENST00000295910.6	37	c.1630C>A	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955525	0.34471	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.11821	2.74;2.74	5.41	3.33	0.38152	.	0.894418	0.09712	N	0.765534	T	0.10766	0.0263	L	0.31926	0.97	0.26621	N	0.972644	P	0.37573	0.6	B	0.33690	0.168	T	0.18967	-1.0320	10	0.33141	T	0.24	-2.3232	9.7423	0.40427	0.0907:0.0:0.7615:0.1477	.	544	Q7L0X2	F194A_HUMAN	S	544;398;502	ENSP00000295910:R544S;ENSP00000419366:R398S	ENSP00000295910:R544S	R	-	1	0	FAM194A	151867362	0.970000	0.33590	0.828000	0.32881	0.990000	0.78478	1.614000	0.36911	1.206000	0.43276	0.655000	0.94253	CGT		PASS	0.413	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			53	91	53	91	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151075017	151075017	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:151075017G>T	ENST00000474524.1	+	18	2611	c.2573G>T	c.(2572-2574)aGt>aTt	p.S858I	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Missense_Mutation_p.S718I	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	858						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.S858I(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATGAACTGAGTGTTGTGGAA	0.398																																						uc003eyp.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(2572-2574)AGT>ATT		mediator of RNA polymerase II transcription,							79.0	72.0	74.0					3																	151075017		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151075017G>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2573G>T	3.37:g.151075017G>T	ENSP00000417235:p.Ser858Ile					MED12L_uc011bnz.1_Missense_Mutation_p.S718I|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.S22I	p.S858I	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		18	2611	+			858					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.2573G>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769149	0.69992	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.80214	-1.35;-1.35	5.17	5.17	0.71159	.	0.042365	0.85682	D	0.000000	D	0.84234	0.5427	L	0.51422	1.61	0.80722	D	1	P;D;P	0.54964	0.937;0.969;0.948	P;P;P	0.53649	0.731;0.698;0.502	D	0.86117	0.1566	10	0.87932	D	0	-14.3683	18.6342	0.91371	0.0:0.0:1.0:0.0	.	718;858;858	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	I	858;718	ENSP00000417235:S858I;ENSP00000273432:S718I	ENSP00000273432:S718I	S	+	2	0	MED12L	152557707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.763000	0.91715	2.545000	0.85829	0.563000	0.77884	AGT		PASS	0.398	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		16	73	16	73	---	---	---	---
MME	4311	broad.mit.edu	37	3	154866431	154866431	+	Silent	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:154866431G>T	ENST00000460393.1	+	16	1710	c.1590G>T	c.(1588-1590)gtG>gtT	p.V530V	MME_ENST00000462745.1_Silent_p.V530V|MME_ENST00000360490.2_Silent_p.V530V|MME_ENST00000492661.1_Silent_p.V530V|MME_ENST00000493237.1_Silent_p.V530V	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	530					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.V530V(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GAGAAAAGGTGGACAAAGATG	0.358																																						uc010hvr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1588-1590)GTG>GTT		membrane metallo-endopeptidase	Candoxatril(DB00616)						73.0	81.0	79.0					3																	154866431		2203	4300	6503	SO:0001819	synonymous_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154866431G>T		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1590G>T	3.37:g.154866431G>T						MME_uc003fab.1_Silent_p.V530V|MME_uc003fac.1_Silent_p.V530V|MME_uc003fad.1_Silent_p.V530V|MME_uc003fae.1_Silent_p.V530V	p.V530V	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		16	1801	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	530			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	c.1590G>T	CCDS3172.1																																																																																				PASS	0.358	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		30	192	30	192	---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157098948	157098948	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:157098948C>G	ENST00000362010.2	-	7	1431	c.1124G>C	c.(1123-1125)gGc>gCc	p.G375A	VEPH1_ENST00000392833.2_Missense_Mutation_p.G375A|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Missense_Mutation_p.G375A|VEPH1_ENST00000392832.2_Missense_Mutation_p.G375A	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	375						plasma membrane (GO:0005886)		p.G375A(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGCTCACCTGCCACTTCCAGC	0.517																																						uc003fbj.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|lung(1)	5						c.(1123-1125)GGC>GCC		ventricular zone expressed PH domain homolog 1							165.0	150.0	155.0					3																	157098948		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157098948C>G	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1124G>C	3.37:g.157098948C>G	ENSP00000354919:p.Gly375Ala					VEPH1_uc003fbk.1_Missense_Mutation_p.G375A|VEPH1_uc010hvu.1_Missense_Mutation_p.G375A	p.G375A	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		7	1441	-			375					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1124G>C	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002410	0.35320	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.07567	3.18;3.19;3.18;3.19	5.47	1.66	0.24008	.	0.716976	0.14715	N	0.302665	T	0.02267	0.0070	N	0.01576	-0.805	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.41698	-0.9494	10	0.06891	T	0.86	.	5.9393	0.19184	0.0:0.6245:0.139:0.2365	.	375;375	Q14D04-2;Q14D04	.;MELT_HUMAN	A	375	ENSP00000376578:G375A;ENSP00000354919:G375A;ENSP00000446258:G375A;ENSP00000376577:G375A	ENSP00000354919:G375A	G	-	2	0	VEPH1	158581642	0.054000	0.20591	0.568000	0.28447	0.868000	0.49771	0.397000	0.20883	0.273000	0.22049	-0.127000	0.14921	GGC		PASS	0.517	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		34	159	34	159	---	---	---	---
RSRC1	51319	broad.mit.edu	37	3	157839991	157839991	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:157839991G>T	ENST00000295930.3	+	2	260	c.98G>T	c.(97-99)aGa>aTa	p.R33I	RSRC1_ENST00000464171.1_Missense_Mutation_p.R33I|RSRC1_ENST00000312179.6_Missense_Mutation_p.R33I|RSRC1_ENST00000475278.2_Missense_Mutation_p.R33I|RSRC1_ENST00000480820.1_Missense_Mutation_p.R33I	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	33	Arg/Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.R33I(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TCAGATAGTAGAACATACAGC	0.433																																						uc003fbt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)AGA>ATA		arginine/serine-rich coiled-coil 1							98.0	94.0	96.0					3																	157839991		2203	4300	6503	SO:0001583	missense	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:157839991G>T	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.98G>T	3.37:g.157839991G>T	ENSP00000295930:p.Arg33Ile					RSRC1_uc011bou.1_Missense_Mutation_p.R33I|RSRC1_uc003fbu.1_Missense_Mutation_p.R33I|RSRC1_uc003fbv.2_Missense_Mutation_p.R33I	p.R33I	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		2	209	+			33			Arg/Ser-rich.		A8K2R9|Q96QK2|Q9NZE5	Missense_Mutation	SNP	ENST00000295930.3	37	c.98G>T	CCDS3181.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759945	0.69763	.	.	ENSG00000174891	ENST00000480820;ENST00000494002;ENST00000295930;ENST00000471994;ENST00000464171;ENST00000312179;ENST00000475278;ENST00000476899	.	.	.	5.41	5.41	0.78517	.	0.193599	0.56097	D	0.000040	T	0.79311	0.4424	M	0.69823	2.125	0.80722	D	1	D;D;D	0.69078	0.994;0.997;0.997	D;D;D	0.78314	0.975;0.991;0.991	T	0.81064	-0.1102	9	0.72032	D	0.01	.	18.7972	0.91999	0.0:0.0:1.0:0.0	.	33;33;33	B4DTW0;Q96IZ7-2;Q96IZ7	.;.;RSRC1_HUMAN	I	33	.	ENSP00000295930:R33I	R	+	2	0	RSRC1	159322685	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	6.635000	0.74295	2.533000	0.85409	0.555000	0.69702	AGA		PASS	0.433	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		10	48	10	48	---	---	---	---
GFM1	85476	broad.mit.edu	37	3	158408930	158408930	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:158408930C>T	ENST00000486715.1	+	17	2430	c.2073C>T	c.(2071-2073)gtC>gtT	p.V691V	GFM1_ENST00000264263.5_Silent_p.V710V|RP11-379F4.7_ENST00000607624.1_lincRNA	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1									p.V691V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GTTTTCAGGTCCCTCTAAATG	0.338																																						uc003fce.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2071-2073)GTC>GTT		G elongation factor, mitochondrial 1 precursor							137.0	134.0	135.0					3																	158408930		2203	4300	6503	SO:0001819	synonymous_variant	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158408930C>T	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.2073C>T	3.37:g.158408930C>T						GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Silent_p.V622V	p.V691V	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		17	2180	+			691						Silent	SNP	ENST00000486715.1	37	c.2073C>T	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710297	0.30322	.	.	ENSG00000168827	ENST00000472383	.	.	.	5.76	-9.76	0.00503	.	.	.	.	.	T	0.34048	0.0884	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40924	-0.9537	4	.	.	.	-15.6626	2.4543	0.04525	0.1454:0.1598:0.3042:0.3906	.	.	.	.	F	14	.	.	S	+	2	0	GFM1	159891624	0.080000	0.21391	0.471000	0.27229	0.967000	0.64934	-0.857000	0.04286	-1.797000	0.01252	-0.136000	0.14681	TCC		PASS	0.338	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		12	86	12	86	---	---	---	---
SI	6476	broad.mit.edu	37	3	164700133	164700133	+	Silent	SNP	G	G	T	rs147742320		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:164700133G>T	ENST00000264382.3	-	47	5375	c.5313C>A	c.(5311-5313)tcC>tcA	p.S1771S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1771	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.S1771S(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ATACATGAAGGGATCCAAGCC	0.348										HNSCC(35;0.089)																												uc003fei.2																			2	Substitution - coding silent(2)	p.S1771S(1)	lung(1)|skin(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(5311-5313)TCC>TCA		sucrase-isomaltase	Acarbose(DB00284)						131.0	126.0	128.0					3																	164700133		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164700133G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5313C>A	3.37:g.164700133G>T		HNSCC(35;0.089)					p.S1771S	NM_001041	NP_001032	P14410	SUIS_HUMAN			47	5375	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1771			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.5313C>A	CCDS3196.1																																																																																				PASS	0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		27	65	27	65	---	---	---	---
SI	6476	broad.mit.edu	37	3	164700156	164700156	+	Nonsense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:164700156T>A	ENST00000264382.3	-	47	5352	c.5290A>T	c.(5290-5292)Aaa>Taa	p.K1764*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1764	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.K1764*(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTTTCACTTTTATTTATGTAA	0.338										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(5290-5292)AAA>TAA		sucrase-isomaltase	Acarbose(DB00284)						125.0	120.0	122.0					3																	164700156		2202	4300	6502	SO:0001587	stop_gained	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164700156T>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5290A>T	3.37:g.164700156T>A	ENSP00000264382:p.Lys1764*	HNSCC(35;0.089)					p.K1764*	NM_001041	NP_001032	P14410	SUIS_HUMAN			47	5352	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1764			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	c.5290A>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	40	8.467996	0.98825	.	.	ENSG00000090402	ENST00000264382	.	.	.	4.56	0.51	0.16983	.	0.891435	0.09688	N	0.768803	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	4.7665	0.13135	0.0:0.1034:0.3835:0.5131	.	.	.	.	X	1764	.	ENSP00000264382:K1764X	K	-	1	0	SI	166182850	0.009000	0.17119	0.065000	0.19835	0.350000	0.29205	-0.329000	0.07935	0.336000	0.23639	0.482000	0.46254	AAA		PASS	0.338	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		21	52	21	52	---	---	---	---
SI	6476	broad.mit.edu	37	3	164792437	164792437	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:164792437G>A	ENST00000264382.3	-	3	199	c.137C>T	c.(136-138)tCa>tTa	p.S46L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	46	Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.S46L(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AGCTGGAGTTGAAGTAGAATC	0.318										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(136-138)TCA>TTA		sucrase-isomaltase	Acarbose(DB00284)						77.0	80.0	79.0					3																	164792437		2203	4299	6502	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164792437G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.137C>T	3.37:g.164792437G>A	ENSP00000264382:p.Ser46Leu	HNSCC(35;0.089)					p.S46L	NM_001041	NP_001032	P14410	SUIS_HUMAN			3	199	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	46			Ser/Thr-rich.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.137C>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	7.662	0.685235	0.14973	.	.	ENSG00000090402	ENST00000264382	D	0.89050	-2.46	2.7	2.7	0.31948	.	3.264110	0.01208	N	0.007767	D	0.86510	0.5950	M	0.63428	1.95	0.09310	N	1	B	0.24823	0.112	B	0.18871	0.023	T	0.67241	-0.5720	10	0.10111	T	0.7	.	9.0549	0.36399	0.0:0.0:1.0:0.0	.	46	P14410	SUIS_HUMAN	L	46	ENSP00000264382:S46L	ENSP00000264382:S46L	S	-	2	0	SI	166275131	0.000000	0.05858	0.134000	0.22075	0.234000	0.25298	0.189000	0.17037	1.831000	0.53308	0.484000	0.47621	TCA		PASS	0.318	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		25	179	25	179	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167031801	167031801	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:167031801G>T	ENST00000392766.2	-	16	1718	c.1378C>A	c.(1378-1380)Ctg>Atg	p.L460M	ZBBX_ENST00000307529.5_Missense_Mutation_p.L460M|ZBBX_ENST00000469220.1_5'Flank|ZBBX_ENST00000392767.2_Missense_Mutation_p.L460M|ZBBX_ENST00000392764.1_Missense_Mutation_p.L431M|ZBBX_ENST00000455345.2_Missense_Mutation_p.L460M	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	460						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.L460M(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTGTTTCTCAGACAAAGATTT	0.313																																						uc003fep.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1378-1380)CTG>ATG		zinc finger, B-box domain containing							121.0	115.0	117.0					3																	167031801		1810	4074	5884	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167031801G>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1378C>A	3.37:g.167031801G>T	ENSP00000376519:p.Leu460Met					ZBBX_uc011bpc.1_Missense_Mutation_p.L460M|ZBBX_uc003feq.2_Missense_Mutation_p.L431M	p.L460M	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			16	1701	-			460					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1378C>A	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	9.138	1.013143	0.19277	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.10960	2.99;2.99;2.98;2.98;2.82	5.01	-2.58	0.06228	.	0.660808	0.13452	N	0.386805	T	0.20007	0.0481	L	0.59436	1.845	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.96	T	0.07424	-1.0773	10	0.59425	D	0.04	-0.3425	4.3312	0.11064	0.4877:0.0:0.3208:0.1915	.	460;460	A8MT70-2;A8MT70	.;ZBBX_HUMAN	M	460;460;460;460;431	ENSP00000376519:L460M;ENSP00000376520:L460M;ENSP00000390232:L460M;ENSP00000305065:L460M;ENSP00000376517:L431M	ENSP00000305065:L460M	L	-	1	2	ZBBX	168514495	0.001000	0.12720	0.002000	0.10522	0.162000	0.22319	-0.198000	0.09505	-0.234000	0.09782	-0.258000	0.10820	CTG		PASS	0.313	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		116	103	116	103	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169890469	169890469	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:169890469C>T	ENST00000494943.1	-	3	244	c.176G>A	c.(175-177)aGc>aAc	p.S59N	PHC3_ENST00000497658.1_Missense_Mutation_p.S71N|PHC3_ENST00000481639.1_Missense_Mutation_p.S67N|PHC3_ENST00000467570.1_Missense_Mutation_p.S71N|PHC3_ENST00000495893.2_Missense_Mutation_p.S71N|PHC3_ENST00000474275.1_Missense_Mutation_p.S55N			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	59					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S59N(1)|p.S71N(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AGCAGCTGAGCTGGGGGGCCG	0.448																																						uc010hws.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(175-177)AGC>AAC		polyhomeotic like 3							101.0	101.0	101.0					3																	169890469		1986	4161	6147	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169890469C>T		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.176G>A	3.37:g.169890469C>T	ENSP00000420271:p.Ser59Asn					PHC3_uc003fgl.2_Missense_Mutation_p.S71N|PHC3_uc011bpq.1_Missense_Mutation_p.S71N|PHC3_uc011bpr.1_Missense_Mutation_p.S71N|PHC3_uc003fgm.2_Missense_Mutation_p.S71N|PHC3_uc003fgo.1_Missense_Mutation_p.S55N|PHC3_uc003fgp.3_Missense_Mutation_p.S67N|PHC3_uc003fgq.3_Missense_Mutation_p.S71N	p.S59N	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		3	240	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		59					A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.176G>A		.	.	.	.	.	.	.	.	.	.	C	18.91	3.723084	0.68959	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570;ENST00000484931;ENST00000466189;ENST00000475729;ENST00000474275;ENST00000465896;ENST00000497658;ENST00000481639	T;T	0.36340	1.26;1.27	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.55194	0.1905	L	0.48877	1.53	0.50171	D	0.999858	D;P;B;P;P;D;B;P	0.67145	0.996;0.682;0.384;0.518;0.518;0.981;0.376;0.518	D;P;B;B;B;D;B;B	0.75484	0.986;0.593;0.242;0.302;0.422;0.943;0.225;0.422	T	0.46965	-0.9153	9	.	.	.	-7.0847	19.5659	0.95393	0.0:1.0:0.0:0.0	.	71;71;59;71;67;55;71;71	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-5;G5E9U7;Q8NDX5-4;Q8NDX5-3;Q8NDX5-7	.;.;PHC3_HUMAN;.;.;.;.;.	N	59;71;71;71;71;71;55;71;71;67	ENSP00000420271:S59N;ENSP00000420294:S71N	.	S	-	2	0	PHC3	171373163	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	3.558000	0.53749	2.619000	0.88677	0.563000	0.77884	AGC		PASS	0.448	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		67	198	67	198	---	---	---	---
MFN1	55669	broad.mit.edu	37	3	179096536	179096536	+	Silent	SNP	A	A	G	rs200209094		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:179096536A>G	ENST00000471841.1	+	14	1722	c.1596A>G	c.(1594-1596)gtA>gtG	p.V532V	MFN1_ENST00000280653.7_Intron|MFN1_ENST00000263969.5_Silent_p.V532V	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	532					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V532V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTTCCCTTGTACATCGATTTT	0.373																																						uc003fjs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1594-1596)GTA>GTG		mitofusin 1							107.0	107.0	107.0					3																	179096536		2203	4300	6503	SO:0001819	synonymous_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179096536A>G	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.1596A>G	3.37:g.179096536A>G						MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.V560V|MFN1_uc010hxc.2_Intron	p.V532V	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		14	1722	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		532			Cytoplasmic (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	c.1596A>G	CCDS3228.1																																																																																				PASS	0.373	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		32	273	32	273	---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	183014925	183014925	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:183014925G>T	ENST00000328913.3	-	12	1633	c.1336C>A	c.(1336-1338)Ctc>Atc	p.L446I	MCF2L2_ENST00000447025.2_Missense_Mutation_p.L446I|MCF2L2_ENST00000414362.2_Missense_Mutation_p.L446I|B3GNT5_ENST00000462559.1_3'UTR|MCF2L2_ENST00000473233.1_Missense_Mutation_p.L446I	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	446							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L446I(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GAAGCCAAGAGGTAGATTCCT	0.532																																						uc003fli.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(1336-1338)CTC>ATC		Rho family guanine-nucleotide exchange factor							109.0	98.0	102.0					3																	183014925		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183014925G>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1336C>A	3.37:g.183014925G>T	ENSP00000328118:p.Leu446Ile					MCF2L2_uc003flj.1_Missense_Mutation_p.L446I|MCF2L2_uc011bqr.1_Intron|uc003fln.1_RNA|uc003flo.2_5'Flank	p.L446I	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		12	1426	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		446					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.1336C>A	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067818	0.93950	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000001	T	0.59155	0.2173	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.985;0.991	T	0.68250	-0.5458	10	0.87932	D	0	.	18.2836	0.90107	0.0:0.0:1.0:0.0	.	446;446	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	I	446	ENSP00000328118:L446I;ENSP00000420070:L446I;ENSP00000388190:L446I;ENSP00000414131:L446I	ENSP00000328118:L446I	L	-	1	0	MCF2L2	184497619	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.963000	0.63694	2.537000	0.85549	0.655000	0.94253	CTC		PASS	0.532	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		40	296	40	296	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183667579	183667579	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:183667579G>A	ENST00000334444.6	-	22	3429	c.3189C>T	c.(3187-3189)acC>acT	p.T1063T	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1063	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.T1063T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	AGGCGTGGATGGTGGCAAGGC	0.552																																						uc003fmg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(3187-3189)ACC>ACT		ATP-binding cassette, sub-family C, member 5							105.0	110.0	108.0					3																	183667579		2095	4218	6313	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183667579G>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3189C>T	3.37:g.183667579G>A						ABCC5_uc011bqt.1_Silent_p.T591T|ABCC5_uc010hxl.2_Intron	p.T1063T	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		22	3354	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1063			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.3189C>T	CCDS43176.1																																																																																				PASS	0.552	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		123	199	123	199	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183669786	183669786	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr3:183669786G>A	ENST00000334444.6	-	19	2913	c.2673C>T	c.(2671-2673)acC>acT	p.T891T	ABCC5_ENST00000265586.6_Silent_p.T891T	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	891	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.T891T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GAGTCACAGTGGTGTTCTGTT	0.547																																						uc003fmg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(2671-2673)ACC>ACT		ATP-binding cassette, sub-family C, member 5							103.0	102.0	102.0					3																	183669786		2068	4188	6256	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183669786G>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2673C>T	3.37:g.183669786G>A						ABCC5_uc011bqt.1_Silent_p.T419T|ABCC5_uc010hxl.2_Silent_p.T891T	p.T891T	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		19	2838	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		891			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.2673C>T	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	G	9.039	0.989225	0.18966	.	.	ENSG00000114770	ENST00000382495	.	.	.	6.03	5.14	0.70334	.	.	.	.	.	T	0.64249	0.2581	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60250	-0.7300	5	0.36615	T	0.2	-11.6455	12.4824	0.55852	0.0723:0.1499:0.7778:0.0	.	.	.	.	Y	826	.	ENSP00000371935:H826Y	H	-	1	0	ABCC5	185152480	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	0.612000	0.24283	2.861000	0.98227	0.655000	0.94253	CAC		PASS	0.547	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		126	222	126	222	---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22749310	22749310	+	RNA	SNP	G	G	T	rs185303143	byFrequency	TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:22749310G>T	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.A226A(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CACTTTTTGCGGTCTGGTTGG	0.428																																						uc003gqp.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(676-678)GCG>GCT		cytosolic beta-glucosidase isoform a							161.0	157.0	158.0					4																	22749310		1886	4101	5987			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749310G>T	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749310G>T						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Silent_p.A227A	p.A226A	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	769	+			226					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Silent	SNP	ENST00000503442.1	37	c.678G>T																																																																																					PASS	0.428	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			107	43	107	43	---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46307694	46307695	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:46307694_46307695CC>AA	ENST00000510861.1	-	7	766_767	c.593_594GG>TT	c.(592-594)tGG>tTT	p.W198F	GABRA2_ENST00000507069.1_Missense_Mutation_p.W198F|GABRA2_ENST00000356504.1_Missense_Mutation_p.W198F|GABRA2_ENST00000515082.1_Missense_Mutation_p.W198F|GABRA2_ENST00000540012.1_Missense_Mutation_p.W143F|GABRA2_ENST00000381620.4_Missense_Mutation_p.W198F|GABRA2_ENST00000514090.1_Missense_Mutation_p.W198F			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	198					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|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.W198L(1)|p.W198F(1)|p.W198C(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|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)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CATTGTAAGTCCAAATATAAGT	0.361																																						uc003gxc.3																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)	4						c.(592-594)TGG>TGT|c.(592-594)TGG>TTG		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)																																			SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46307694C>A|g.chr4:46307695C>A		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.593_594delinsAA	4.37:g.46307694_46307695delinsAA	ENSP00000421828:p.Trp198Phe					GABRA2_uc010igc.2_Missense_Mutation_p.W198C|GABRA2_uc011bzc.1_Missense_Mutation_p.W143C|GABRA2_uc003gxe.2_Missense_Mutation_p.W198C|GABRA2_uc010igc.2_Missense_Mutation_p.W198L|GABRA2_uc011bzc.1_Missense_Mutation_p.W143L|GABRA2_uc003gxe.2_Missense_Mutation_p.W198L	p.W198C|p.W198L	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			6	1267|1266	-			198			Extracellular (Probable).		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.594G>T|c.593G>T	CCDS3471.1																																																																																				PASS	0.361	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			13	16	13	16	---	---	---	---
LRRC66	339977	broad.mit.edu	37	4	52864046	52864046	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:52864046G>A	ENST00000343457.3	-	3	730	c.724C>T	c.(724-726)Cta>Tta	p.L242L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	242						integral component of membrane (GO:0016021)		p.L242L(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GGAAATTCTAGAGCTATGATC	0.393																																						uc003gzi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(724-726)CTA>TTA		leucine rich repeat containing 66							212.0	196.0	201.0					4																	52864046		1908	4132	6040	SO:0001819	synonymous_variant	339977					integral to membrane		g.chr4:52864046G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.724C>T	4.37:g.52864046G>A							p.L242L	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			3	737	-			242						Silent	SNP	ENST00000343457.3	37	c.724C>T	CCDS43229.1																																																																																				PASS	0.393	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		89	78	89	78	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57181005	57181005	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:57181005A>G	ENST00000504228.1	+	6	1442	c.1337A>G	c.(1336-1338)gAg>gGg	p.E446G	KIAA1211_ENST00000264229.6_Missense_Mutation_p.E446G|KIAA1211_ENST00000541073.1_Missense_Mutation_p.E439G			Q6ZU35	K1211_HUMAN	KIAA1211	446	Glu-rich.							p.E446G(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAACACTCCGAGGAGCCAGGT	0.617																																						uc003hbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1336-1338)GAG>GGG		hypothetical protein LOC57482							31.0	39.0	36.0					4																	57181005		2003	4170	6173	SO:0001583	missense	57482							g.chr4:57181005A>G	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1337A>G	4.37:g.57181005A>G	ENSP00000423366:p.Glu446Gly					KIAA1211_uc010iha.2_Missense_Mutation_p.E439G|KIAA1211_uc011bzz.1_Missense_Mutation_p.E356G|KIAA1211_uc003hbm.1_Missense_Mutation_p.E332G	p.E446G	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	1728	+	Glioma(25;0.08)|all_neural(26;0.101)		446			Glu-rich.		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.1337A>G	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113285	0.56398	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.13420	2.59;2.59;2.59	4.63	2.15	0.27550	.	.	.	.	.	T	0.13329	0.0323	N	0.24115	0.695	0.09310	N	0.999999	P;P;P	0.52316	0.952;0.763;0.763	P;B;B	0.51701	0.677;0.387;0.387	T	0.13308	-1.0514	9	0.59425	D	0.04	-4.8269	5.4125	0.16356	0.5741:0.2659:0.16:0.0	.	439;439;446	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	G	446;446;439;356	ENSP00000264229:E446G;ENSP00000423366:E446G;ENSP00000444006:E439G	ENSP00000264229:E446G	E	+	2	0	KIAA1211	56875762	0.031000	0.19500	0.010000	0.14722	0.034000	0.12701	1.645000	0.37238	0.758000	0.33059	0.369000	0.22263	GAG		PASS	0.617	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		7	33	7	33	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66280001	66280001	+	Splice_Site	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:66280001C>G	ENST00000273854.3	-	7	2288		c.e7+1		EPHA5_ENST00000511294.1_Splice_Site|EPHA5_ENST00000354839.4_Splice_Site|EPHA5_ENST00000432638.2_Splice_Site	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5						axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.?(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAATGACTTACACACTGGGGT	0.443										TSP Lung(17;0.13)																												uc003hcy.2																			1	Unknown(1)		lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.e7+1		ephrin receptor EphA5 isoform a precursor							117.0	103.0	107.0					4																	66280001		2203	4300	6503	SO:0001630	splice_region_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66280001C>G	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1687+1G>C	4.37:g.66280001C>G		TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Splice_Site_p.S494_splice|EPHA5_uc003hcz.2_Splice_Site_p.F563_splice|EPHA5_uc011cah.1_Splice_Site_p.S563_splice|EPHA5_uc011cai.1_Splice_Site_p.S563_splice|EPHA5_uc003hda.2_Splice_Site_p.S563_splice	p.F563_splice	NM_004439	NP_004430	P54756	EPHA5_HUMAN			7	1880	-								Q7Z3F2	Splice_Site	SNP	ENST00000273854.3	37	c.1687_splice	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852400	0.91355	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPHA5	65962596	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.537000	0.82033	2.941000	0.99782	0.655000	0.94253	.		PASS	0.443	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	Intron	26	30	26	30	---	---	---	---
UGT2B4	7363	broad.mit.edu	37	4	70355265	70355265	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:70355265G>T	ENST00000305107.6	-	3	940	c.894C>A	c.(892-894)agC>agA	p.S298R	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.S298R|UGT2B4_ENST00000381096.3_Missense_Mutation_p.S162R	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	298					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.S298R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TTTCTCCAGAGCTCTGGACAA	0.398																																						uc003hek.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(892-894)AGC>AGA		UDP glucuronosyltransferase 2B4 precursor							123.0	123.0	123.0					4																	70355265		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70355265G>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.894C>A	4.37:g.70355265G>T	ENSP00000305221:p.Ser298Arg					UGT2B4_uc011cap.1_Missense_Mutation_p.S162R|UGT2B4_uc003hel.3_Missense_Mutation_p.S298R	p.S298R	NM_021139	NP_066962	P06133	UD2B4_HUMAN			3	941	-			298					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.894C>A	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	9.513	1.106177	0.20632	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.63255	-0.03;-0.03;-0.03	2.25	1.4	0.22301	.	0.000000	0.85682	U	0.000000	T	0.79185	0.4403	M	0.90922	3.16	0.26427	N	0.975992	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.97110	0.999;0.977;1.0	T	0.68368	-0.5427	10	0.87932	D	0	.	7.3165	0.26503	0.1463:0.0:0.8537:0.0	.	162;298;298	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	R	298;298;162	ENSP00000421290:S298R;ENSP00000305221:S298R;ENSP00000370486:S162R	ENSP00000305221:S298R	S	-	3	2	UGT2B4	70389854	1.000000	0.71417	0.688000	0.30117	0.049000	0.14656	1.455000	0.35190	0.525000	0.28522	-0.683000	0.03753	AGC		PASS	0.398	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		77	83	77	83	---	---	---	---
UGT2B4	7363	broad.mit.edu	37	4	70361031	70361031	+	Silent	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:70361031A>G	ENST00000305107.6	-	1	595	c.549T>C	c.(547-549)caT>caC	p.H183H	UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Silent_p.H183H|UGT2B4_ENST00000381096.3_Silent_p.H47H	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	183					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.H183H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	GTCCTCCACTATGCTTTTCAA	0.443																																						uc003hek.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(547-549)CAT>CAC		UDP glucuronosyltransferase 2B4 precursor							68.0	69.0	68.0					4																	70361031		2189	4295	6484	SO:0001819	synonymous_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361031A>G	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.549T>C	4.37:g.70361031A>G						UGT2B4_uc011cap.1_Silent_p.H47H|UGT2B4_uc003hel.3_Silent_p.H183H	p.H183H	NM_021139	NP_066962	P06133	UD2B4_HUMAN			1	596	-			183					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	c.549T>C	CCDS43234.1																																																																																				PASS	0.443	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		18	61	18	61	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73156630	73156630	+	Missense_Mutation	SNP	C	C	G	rs553440149		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:73156630C>G	ENST00000286657.4	-	20	2909	c.2873G>C	c.(2872-2874)cGc>cCc	p.R958P		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	958	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R958P(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACAGGGCCGGCGGCTCTCGGG	0.567																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2872-2874)CGC>CCC		ADAM metallopeptidase with thrombospondin type 1							111.0	95.0	101.0					4																	73156630		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73156630C>G	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2873G>C	4.37:g.73156630C>G	ENSP00000286657:p.Arg958Pro						p.R958P	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		20	2910	-			958			TSP type-1 3.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2873G>C	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	31	5.089292	0.94100	.	.	ENSG00000156140	ENST00000286657	T	0.53423	0.62	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.76428	0.3986	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78290	-0.2261	10	0.32370	T	0.25	.	19.2087	0.93746	0.0:1.0:0.0:0.0	.	958	O15072	ATS3_HUMAN	P	958	ENSP00000286657:R958P	ENSP00000286657:R958P	R	-	2	0	ADAMTS3	73375494	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.015000	0.70791	2.533000	0.85409	0.557000	0.71058	CGC		PASS	0.567	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			19	39	19	39	---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73987360	73987360	+	Silent	SNP	T	T	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:73987360T>G	ENST00000358602.4	-	19	3725	c.3609A>C	c.(3607-3609)ctA>ctC	p.L1203L	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Silent_p.L952L|ANKRD17_ENST00000509867.2_Silent_p.L1090L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1203					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L1203L(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTCCTGCATTTAGTAATATTT	0.383																																						uc003hgp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(3607-3609)CTA>CTC		ankyrin repeat domain protein 17 isoform a							125.0	130.0	128.0					4																	73987360		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73987360T>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3609A>C	4.37:g.73987360T>G						ANKRD17_uc003hgo.2_Silent_p.L1090L|ANKRD17_uc003hgq.2_Silent_p.L952L|ANKRD17_uc003hgr.2_Silent_p.L1202L|ANKRD17_uc011cbd.1_Silent_p.L768L	p.L1203L	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		19	3726	-	Breast(15;0.000295)		1203			ANK 19.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.3609A>C	CCDS34004.1																																																																																				PASS	0.383	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		49	54	49	54	---	---	---	---
AFM	173	broad.mit.edu	37	4	74364930	74364930	+	Silent	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:74364930G>T	ENST00000226355.3	+	11	1482	c.1389G>T	c.(1387-1389)acG>acT	p.T463T		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	463	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)	p.T463T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTGCTGTACGCTAAGTGAAG	0.413																																						uc003hhb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1387-1389)ACG>ACT		afamin precursor							153.0	135.0	141.0					4																	74364930		2203	4300	6503	SO:0001819	synonymous_variant	173				vitamin transport		vitamin E binding	g.chr4:74364930G>T	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1389G>T	4.37:g.74364930G>T							p.T463T	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1420	+	Breast(15;0.00102)		463			Albumin 3.		A8K3E1|Q32MR3|Q4W5C5	Silent	SNP	ENST00000226355.3	37	c.1389G>T	CCDS3557.1																																																																																				PASS	0.413	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			14	41	14	41	---	---	---	---
THAP9	79725	broad.mit.edu	37	4	83839358	83839358	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:83839358C>T	ENST00000302236.5	+	5	2044	c.1993C>T	c.(1993-1995)Cga>Tga	p.R665*	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	665					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.R665*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TTCAATTGCTCGAAGGAAAGA	0.398																																						uc003hnt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5						c.(1993-1995)CGA>TGA		THAP domain containing 9							90.0	90.0	90.0					4																	83839358		2203	4300	6503	SO:0001587	stop_gained	79725						DNA binding|metal ion binding	g.chr4:83839358C>T	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1993C>T	4.37:g.83839358C>T	ENSP00000305533:p.Arg665*					THAP9_uc003hns.1_Nonsense_Mutation_p.R521*|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Nonsense_Mutation_p.R382*	p.R665*	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN			5	2112	+		Hepatocellular(203;0.114)	665					B3KRE2|Q59AC9	Nonsense_Mutation	SNP	ENST00000302236.5	37	c.1993C>T	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480589	0.63849	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	.	.	.	3.87	2.09	0.27110	.	0.729810	0.11282	N	0.580227	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-1.7736	6.6186	0.22790	0.1768:0.7285:0.0:0.0947	.	.	.	.	X	665	.	ENSP00000305533:R665X	R	+	1	2	THAP9	84058382	0.404000	0.25328	0.008000	0.14137	0.446000	0.32137	2.234000	0.43035	0.573000	0.29400	0.655000	0.94253	CGA		PASS	0.398	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		17	75	17	75	---	---	---	---
HELQ	113510	broad.mit.edu	37	4	84376793	84376793	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:84376793G>A	ENST00000295488.3	-	1	216	c.54C>T	c.(52-54)aaC>aaT	p.N18N	HELQ_ENST00000510985.1_Silent_p.N18N|HELQ_ENST00000440639.2_5'UTR|MRPS18C_ENST00000507019.1_5'Flank|MRPS18C_ENST00000507349.1_5'Flank|MRPS18C_ENST00000295491.4_5'Flank	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	18					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.N18N(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGCTTGGACGGTTCCTTTTGG	0.602								Other identified genes with known or suspected DNA repair function			OREG0016254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003hom.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(52-54)AAC>AAT	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA helicase HEL308							79.0	95.0	90.0					4																	84376793		2203	4300	6503	SO:0001819	synonymous_variant	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84376793G>A	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.54C>T	4.37:g.84376793G>A			OREG0016254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1228	HELQ_uc010ikb.2_Silent_p.N18N|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_5'UTR|HELQ_uc003hoo.1_Silent_p.N18N|HELQ_uc003hop.1_5'UTR|HELQ_uc003hoq.1_Silent_p.N18N|MRPS18C_uc003hor.3_5'Flank|MRPS18C_uc011ccu.1_5'Flank	p.N18N	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN			1	233	-			18					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	ENST00000295488.3	37	c.54C>T	CCDS3603.1																																																																																				PASS	0.602	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		41	139	41	139	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85598396	85598396	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:85598396T>G	ENST00000295888.4	-	67	10820	c.10413A>C	c.(10411-10413)gaA>gaC	p.E3471D	WDFY3_ENST00000322366.6_Missense_Mutation_p.E3454D	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3471	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.E3471D(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTGTCGTCTTTCTGTGAGTG	0.473																																						uc003hpd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(10411-10413)GAA>GAC		WD repeat and FYVE domain containing 3 isoform							90.0	87.0	88.0					4																	85598396		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85598396T>G	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.10413A>C	4.37:g.85598396T>G	ENSP00000295888:p.Glu3471Asp					WDFY3_uc003hpc.2_Missense_Mutation_p.E226D	p.E3471D	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	67	10821	-		Hepatocellular(203;0.114)	3471			FYVE-type.		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.10413A>C	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.235797	0.58886	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.72282	-0.64;-0.64	5.5	-1.35	0.09114	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.72162	0.3426	L	0.33137	0.985	0.52099	D	0.999948	D	0.57257	0.979	D	0.74023	0.982	T	0.68872	-0.5294	10	0.42905	T	0.14	.	12.6187	0.56592	0.0:0.6075:0.0:0.3925	.	3471	Q8IZQ1	WDFY3_HUMAN	D	3454;3471	ENSP00000318466:E3454D;ENSP00000295888:E3471D	ENSP00000295888:E3471D	E	-	3	2	WDFY3	85817420	0.561000	0.26578	0.068000	0.19968	0.748000	0.42578	-0.088000	0.11198	-0.149000	0.11215	-0.290000	0.09829	GAA		PASS	0.473	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		14	72	14	72	---	---	---	---
HSD17B13	345275	broad.mit.edu	37	4	88235003	88235003	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:88235003T>A	ENST00000328546.4	-	5	731	c.667A>T	c.(667-669)Act>Tct	p.T223S	HSD17B13_ENST00000302219.6_Missense_Mutation_p.T187S	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	223						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.T223S(1)		endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		GTGAACCCAGTATTCACAAAA	0.388																																						uc003hqo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(667-669)ACT>TCT		hydroxysteroid (17-beta) dehydrogenase 13							114.0	111.0	112.0					4																	88235003		2203	4300	6503	SO:0001583	missense	345275					extracellular region	binding|oxidoreductase activity	g.chr4:88235003T>A		CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18685	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 3"""	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.667A>T	4.37:g.88235003T>A	ENSP00000333300:p.Thr223Ser					HSD17B13_uc010ikk.2_Missense_Mutation_p.T187S	p.T223S	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000308)	5	730	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	223					A8K9R9|Q2M1L5|Q86W22|Q86W23	Missense_Mutation	SNP	ENST00000328546.4	37	c.667A>T	CCDS3618.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.491835	0.84962	.	.	ENSG00000170509	ENST00000302219;ENST00000328546	D;D	0.94092	-3.35;-3.35	5.55	5.55	0.83447	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000009	D	0.96568	0.8880	M	0.85630	2.765	0.48135	D	0.999595	D;P	0.64830	0.994;0.852	D;P	0.63877	0.919;0.484	D	0.96981	0.9715	10	0.62326	D	0.03	.	15.3705	0.74560	0.0:0.0:0.0:1.0	.	187;223	Q7Z5P4-2;Q7Z5P4	.;DHB13_HUMAN	S	187;223	ENSP00000305438:T187S;ENSP00000333300:T223S	ENSP00000305438:T187S	T	-	1	0	HSD17B13	88454027	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	6.546000	0.73887	2.093000	0.63338	0.533000	0.62120	ACT		PASS	0.388	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253052.1	NM_178135		21	39	21	39	---	---	---	---
PKD2	5311	broad.mit.edu	37	4	88989126	88989126	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:88989126C>T	ENST00000508588.1	+	8	1084	c.689C>T	c.(688-690)tCt>tTt	p.S230F	PKD2_ENST00000237596.2_Missense_Mutation_p.S812F|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Missense_Mutation_p.S230F			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.S812F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTGGATGACTCTGAGGAGGAT	0.488																																						uc003hre.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2434-2436)TCT>TTT		polycystin 2							137.0	124.0	128.0					4																	88989126		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88989126C>T	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.689C>T	4.37:g.88989126C>T	ENSP00000427131:p.Ser230Phe					PKD2_uc011cdf.1_Missense_Mutation_p.S230F|PKD2_uc011cdg.1_Missense_Mutation_p.S138F|PKD2_uc011cdh.1_Missense_Mutation_p.S35F	p.S812F	NM_000297	NP_000288	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	13	2501	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	812			Linker.|Cytoplasmic (Potential).		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	37	c.2435C>T		.	.	.	.	.	.	.	.	.	.	C	26.5	4.745713	0.89663	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;D;D	0.92397	-0.35;-3.03;-3.03	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.95300	0.8475	L	0.56769	1.78	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.95502	0.8578	10	0.72032	D	0.01	-13.9236	19.1746	0.93599	0.0:1.0:0.0:0.0	.	812	Q13563	PKD2_HUMAN	F	812;230;230	ENSP00000237596:S812F;ENSP00000427131:S230F;ENSP00000425289:S230F	ENSP00000237596:S812F	S	+	2	0	PKD2	89208150	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.219000	0.78000	2.587000	0.87381	0.563000	0.77884	TCT		PASS	0.488	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		11	50	11	50	---	---	---	---
MMRN1	22915	broad.mit.edu	37	4	90874208	90874208	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:90874208A>G	ENST00000394980.1	+	9	3645	c.3326A>G	c.(3325-3327)tAt>tGt	p.Y1109C	MMRN1_ENST00000264790.2_Missense_Mutation_p.Y1109C|MMRN1_ENST00000394981.1_Missense_Mutation_p.Y412C|MMRN1_ENST00000508372.1_Missense_Mutation_p.Y851C			Q13201	MMRN1_HUMAN	multimerin 1	1109	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.Y1109F(2)|p.Y1109C(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCTCATACGTATGGAATGACT	0.353																																						uc003hst.2																			3	Substitution - Missense(3)		liver(2)|lung(1)	ovary(4)	4						c.(3325-3327)TAT>TGT		multimerin 1							112.0	115.0	114.0					4																	90874208		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90874208A>G	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3326A>G	4.37:g.90874208A>G	ENSP00000378431:p.Tyr1109Cys					MMRN1_uc010iku.2_Missense_Mutation_p.Y412C|MMRN1_uc011cds.1_Missense_Mutation_p.Y851C	p.Y1109C	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	8	3397	+		Hepatocellular(203;0.114)	1109			C1q.		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.3326A>G	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.274189	0.59649	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	4.73	4.73	0.59995	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.115539	0.39020	N	0.001500	T	0.80154	0.4571	L	0.40543	1.245	0.27758	N	0.943932	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.975	T	0.74031	-0.3795	10	0.56958	D	0.05	.	13.4838	0.61353	1.0:0.0:0.0:0.0	.	412;1109	Q13201-2;Q13201	.;MMRN1_HUMAN	C	1109;1109;412;851	ENSP00000378431:Y1109C;ENSP00000264790:Y1109C;ENSP00000378432:Y412C;ENSP00000426461:Y851C	ENSP00000264790:Y1109C	Y	+	2	0	MMRN1	91093231	1.000000	0.71417	0.913000	0.36048	0.922000	0.55478	5.962000	0.70364	2.077000	0.62373	0.397000	0.26171	TAT		PASS	0.353	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		28	86	28	86	---	---	---	---
NDST3	9348	broad.mit.edu	37	4	118975630	118975630	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:118975630G>A	ENST00000296499.5	+	2	968	c.565G>A	c.(565-567)Gca>Aca	p.A189T	NDST3_ENST00000433996.2_Missense_Mutation_p.A189T	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	189	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.A189T(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TGGAAATCTTGCAGTAAAAGA	0.378																																						uc003ibx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(565-567)GCA>ACA		N-deacetylase/N-sulfotransferase (heparan							92.0	93.0	93.0					4																	118975630		2203	4299	6502	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:118975630G>A	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.565G>A	4.37:g.118975630G>A	ENSP00000296499:p.Ala189Thr					NDST3_uc011cgf.1_Missense_Mutation_p.A189T|NDST3_uc003ibw.2_Missense_Mutation_p.A189T	p.A189T	NM_004784	NP_004775	O95803	NDST3_HUMAN			2	968	+			189			Lumenal (Potential).|Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.565G>A	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127929	0.56721	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.44083	1.26;0.93	5.3	4.42	0.53409	.	0.166767	0.51477	D	0.000089	T	0.55065	0.1897	M	0.65975	2.015	0.46798	D	0.999203	P;B;D	0.53619	0.503;0.433;0.961	B;P;P	0.54590	0.365;0.45;0.756	T	0.54944	-0.8217	10	0.37606	T	0.19	.	15.9813	0.80111	0.0:0.1343:0.8657:0.0	.	189;189;189	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	T	189	ENSP00000296499:A189T;ENSP00000396625:A189T	ENSP00000296499:A189T	A	+	1	0	NDST3	119195078	1.000000	0.71417	0.950000	0.38849	0.983000	0.72400	7.672000	0.83956	2.464000	0.83262	0.655000	0.94253	GCA		PASS	0.378	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		22	87	22	87	---	---	---	---
PDE5A	8654	broad.mit.edu	37	4	120528376	120528376	+	Missense_Mutation	SNP	C	C	T	rs200040534		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:120528376C>T	ENST00000354960.3	-	2	548	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	PDE5A_ENST00000264805.5_Missense_Mutation_p.E35K|PDE5A_ENST00000394439.1_Missense_Mutation_p.E25K	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	77					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.E77K(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	GAGCAAGATTCGGTGTGGCCT	0.517																																						uc003idh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(229-231)GAA>AAA		phosphodiesterase 5A isoform 1	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						80.0	78.0	79.0					4																	120528376		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120528376C>T	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.229G>A	4.37:g.120528376C>T	ENSP00000347046:p.Glu77Lys					PDE5A_uc003idf.2_Missense_Mutation_p.E35K|PDE5A_uc003idg.2_Missense_Mutation_p.E25K	p.E77K	NM_001083	NP_001074	O76074	PDE5A_HUMAN			2	384	-			77					A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.229G>A	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640623	0.47153	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805;ENST00000420633	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	5.64	5.64	0.86602	.	0.516189	0.20576	N	0.089624	T	0.11623	0.0283	L	0.56769	1.78	0.58432	D	0.999999	P;P	0.38597	0.639;0.564	B;B	0.26864	0.074;0.054	T	0.22906	-1.0203	10	0.13108	T	0.6	.	19.7186	0.96134	0.0:1.0:0.0:0.0	.	77;35	O76074;O76074-2	PDE5A_HUMAN;.	K	77;25;35;25	ENSP00000347046:E77K;ENSP00000377957:E25K;ENSP00000264805:E35K;ENSP00000416309:E25K	ENSP00000264805:E35K	E	-	1	0	PDE5A	120747824	0.723000	0.28027	0.097000	0.21041	0.664000	0.39144	4.196000	0.58407	2.659000	0.90383	0.655000	0.94253	GAA		PASS	0.517	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		14	52	14	52	---	---	---	---
BBS7	55212	broad.mit.edu	37	4	122774121	122774121	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:122774121C>A	ENST00000264499.4	-	8	1022	c.839G>T	c.(838-840)cGa>cTa	p.R280L	BBS7_ENST00000506636.1_Missense_Mutation_p.R280L	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	280					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.R280L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTGATCAAATCGTAGAACAGG	0.308									Bardet-Biedl syndrome																													uc003ied.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(838-840)CGA>CTA		Bardet-Biedl syndrome 7 protein isoform a							111.0	96.0	101.0					4																	122774121		2203	4300	6503	SO:0001583	missense	55212	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122774121C>A	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.839G>T	4.37:g.122774121C>A	ENSP00000264499:p.Arg280Leu					BBS7_uc003iee.1_Missense_Mutation_p.R280L	p.R280L	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN			8	1013	-			280					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.839G>T	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854212	0.51270	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.92199	-2.99;-2.99	5.26	3.52	0.40303	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.133902	0.52532	D	0.000080	D	0.87216	0.6122	L	0.61036	1.89	0.58432	D	0.999992	B	0.25312	0.123	B	0.27887	0.084	T	0.77316	-0.2633	10	0.02654	T	1	-4.943	8.4779	0.33025	0.0:0.7654:0.0:0.2346	.	280	Q8IWZ6	BBS7_HUMAN	L	280	ENSP00000264499:R280L;ENSP00000423626:R280L	ENSP00000264499:R280L	R	-	2	0	BBS7	122993571	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	2.059000	0.41384	1.223000	0.43536	0.585000	0.79938	CGA		PASS	0.308	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			15	19	15	19	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123178522	123178522	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:123178522G>C	ENST00000264501.4	+	41	6864	c.6491G>C	c.(6490-6492)aGa>aCa	p.R2164T	KIAA1109_ENST00000455637.1_Missense_Mutation_p.R2164T|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R2164T			Q2LD37	K1109_HUMAN	KIAA1109	2164					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R2164T(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGCTTACATAGACCAGCTCAG	0.448																																						uc003ieh.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(6490-6492)AGA>ACA		fragile site-associated protein							201.0	197.0	199.0					4																	123178522		2062	4216	6278	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123178522G>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.6491G>C	4.37:g.123178522G>C	ENSP00000264501:p.Arg2164Thr					KIAA1109_uc003iel.1_Missense_Mutation_p.R99T|KIAA1109_uc003iek.2_Missense_Mutation_p.R783T	p.R2164T	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			39	6536	+			2164					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.6491G>C	CCDS43267.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	25.2|25.2|25.2	4.613256|4.613256|4.613256	0.87359|0.87359|0.87359	.|.|.	.|.|.	ENSG00000138688|ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	.|T;T;T|.	.|0.30182|.	.|2.26;2.26;1.54|.	6.07|6.07|6.07	6.07|6.07|6.07	0.98685|0.98685|0.98685	.|.|.	.|0.113822|.	.|0.31648|.	.|U|.	.|0.007294|.	T|T|.	0.50803|0.50803|.	0.1637|0.1637|.	N|N|N	0.19112|0.19112|0.19112	0.55|0.55|0.55	0.34756|0.34756|0.34756	D|D|D	0.732234|0.732234|0.732234	.|B;P;P|.	.|0.38922|.	.|0.403;0.557;0.651|.	.|B;B;B|.	.|0.39258|.	.|0.12;0.295;0.15|.	T|T|.	0.52472|0.52472|.	-0.8571|-0.8571|.	5|10|.	.|0.72032|.	.|D|.	.|0.01|.	.|.|.	20.6525|20.6525|20.6525	0.99598|0.99598|0.99598	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|2164;2163;2164|.	.|Q2LD37-6;Q2LD37-2;Q2LD37|.	.|.;.;K1109_HUMAN|.	H|T|Y	737|2164|121	.|ENSP00000264501:R2164T;ENSP00000373390:R2164T;ENSP00000389925:R2164T|.	.|ENSP00000264501:R2164T|.	D|R|X	+|+|+	1|2|3	0|0|2	KIAA1109|KIAA1109|KIAA1109	123397972|123397972|123397972	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.945000|0.945000|0.945000	0.38365|0.38365|0.38365	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	6.669000|6.669000|6.669000	0.74462|0.74462|0.74462	2.890000|2.890000|2.890000	0.99128|0.99128|0.99128	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GAC|AGA|TAG		PASS	0.448	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		60	80	60	80	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126389770	126389770	+	Silent	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:126389770A>G	ENST00000394329.3	+	11	12016	c.12003A>G	c.(12001-12003)aaA>aaG	p.K4001K	FAT4_ENST00000335110.5_Silent_p.K2264K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4001	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K3966K(1)|p.K4001K(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTTATGTCAAATTTGCCACGA	0.403																																						uc003ifj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(12001-12003)AAA>AAG		FAT tumor suppressor homolog 4 precursor							71.0	71.0	71.0					4																	126389770		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126389770A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12003A>G	4.37:g.126389770A>G						FAT4_uc011cgp.1_Silent_p.K2264K|FAT4_uc003ifi.1_Silent_p.K1479K	p.K4001K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			11	12003	+			4001			Laminin G-like 1.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.12003A>G	CCDS3732.3																																																																																				PASS	0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		24	33	24	33	---	---	---	---
JADE1	79960	broad.mit.edu	37	4	129776951	129776951	+	Splice_Site	SNP	A	A	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:129776951A>C	ENST00000226319.6	+	7	1143	c.863A>C	c.(862-864)gAg>gCg	p.E288A	PHF17_ENST00000413543.2_Splice_Site_p.E288A|PHF17_ENST00000452328.2_Splice_Site_p.E276A|PHF17_ENST00000511647.1_Splice_Site_p.E288A|PHF17_ENST00000512960.1_Splice_Site_p.E288A	NM_199320.2	NP_955352.1												p.E288A(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGGATCCCTGAGGTACGTGTG	0.498																																						uc003igk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(862-864)GAG>GCG		PHD finger protein 17 long isoform							118.0	114.0	116.0					4																	129776951		2203	4300	6503	SO:0001630	splice_region_variant	79960				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129776951A>C																												ENST00000226319.6:c.864+1A>C	4.37:g.129776951A>C						PHF17_uc003igj.2_Missense_Mutation_p.E288A|PHF17_uc003igl.2_Missense_Mutation_p.E276A|PHF17_uc011cgy.1_Missense_Mutation_p.E288A|PHF17_uc003igm.2_Missense_Mutation_p.E288A	p.E288A	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN			7	1143	+			288						Missense_Mutation	SNP	ENST00000226319.6	37	c.863A>C	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.457579	0.84317	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	4.41	4.41	0.53225	.	0.050075	0.85682	D	0.000000	T	0.55752	0.1940	H	0.96662	3.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.996;0.987	T	0.72367	-0.4315	9	.	.	.	.	14.1032	0.65070	1.0:0.0:0.0:0.0	.	276;288;288	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	A	288;288;276;288;288;288	ENSP00000226319:E288A;ENSP00000423737:E288A;ENSP00000388015:E276A;ENSP00000425730:E288A;ENSP00000404211:E288A	.	E	+	2	0	PHF17	129996401	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	8.724000	0.91462	1.975000	0.57531	0.459000	0.35465	GAG		PASS	0.498	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1		Missense_Mutation	15	25	15	25	---	---	---	---
MAP9	79884	broad.mit.edu	37	4	156289766	156289766	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:156289766T>A	ENST00000311277.4	-	5	943	c.680A>T	c.(679-681)aAa>aTa	p.K227I	AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000600928.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.K227I|AC097467.2_ENST00000597831.1_RNA|MAP9_ENST00000379248.2_Missense_Mutation_p.K154I|AC097467.2_ENST00000596165.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	227					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)		p.K227I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AGAGAATGCTTTTTTCTCAGC	0.373																																						uc003ios.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(679-681)AAA>ATA		aster-associated protein							130.0	121.0	124.0					4																	156289766		2203	4300	6503	SO:0001583	missense	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156289766T>A	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.680A>T	4.37:g.156289766T>A	ENSP00000310593:p.Lys227Ile					MAP9_uc011cin.1_Missense_Mutation_p.K226I|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.K226I|MAP9_uc010iqb.1_Missense_Mutation_p.K154I	p.K227I	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	5	944	-	all_hematologic(180;0.24)	Renal(120;0.0458)	227					Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	c.680A>T	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	T	12.54	1.968566	0.34754	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836;ENST00000379248	T;T;T;T	0.35421	2.1;2.13;1.35;1.31	4.9	1.35	0.21983	.	1.130040	0.06552	N	0.745254	T	0.42245	0.1194	L	0.47716	1.5	0.09310	N	1	B;D;P;P	0.61080	0.131;0.989;0.753;0.753	B;P;B;B	0.55161	0.081;0.77;0.246;0.246	T	0.20672	-1.0268	10	0.72032	D	0.01	0.0019	3.2756	0.06897	0.0:0.3904:0.2352:0.3744	.	226;154;227;227	B4DVG9;A8MSM7;B9EJB6;Q49MG5	.;.;.;MAP9_HUMAN	I	227;227;226;227;154	ENSP00000310593:K227I;ENSP00000427402:K227I;ENSP00000394048:K226I;ENSP00000368550:K154I	ENSP00000310593:K227I	K	-	2	0	MAP9	156509216	0.348000	0.24861	0.000000	0.03702	0.121000	0.20230	0.846000	0.27682	-0.021000	0.14009	-0.456000	0.05471	AAA		PASS	0.373	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		23	77	23	77	---	---	---	---
GUCY1B3	2983	broad.mit.edu	37	4	156715238	156715238	+	Splice_Site	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:156715238G>T	ENST00000264424.8	+	6	808	c.726G>T	c.(724-726)caG>caT	p.Q242H	GUCY1B3_ENST00000502959.1_Splice_Site_p.Q264H|GUCY1B3_ENST00000507146.1_Splice_Site_p.Q174H|GUCY1B3_ENST00000503520.1_Splice_Site_p.Q242H|GUCY1B3_ENST00000505154.1_Splice_Site_p.Q174H|GUCY1B3_ENST00000505764.1_Splice_Site_p.Q222H|GUCY1B3_ENST00000513437.1_Splice_Site_p.Q174H	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	242					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.Q242H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TTCTCCCCCAGGTAAAATGAC	0.423																																						uc003ipc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(724-726)CAG>CAT		guanylate cyclase 1, soluble, beta 3							40.0	37.0	38.0					4																	156715238		1866	4098	5964	SO:0001630	splice_region_variant	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156715238G>T	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.726+1G>T	4.37:g.156715238G>T						GUCY1B3_uc011cio.1_Missense_Mutation_p.Q264H|GUCY1B3_uc011cip.1_Missense_Mutation_p.Q222H|GUCY1B3_uc003ipd.2_Missense_Mutation_p.Q170H|GUCY1B3_uc010iqf.2_Missense_Mutation_p.Q242H|GUCY1B3_uc010iqg.2_Missense_Mutation_p.Q170H|GUCY1B3_uc011ciq.1_Missense_Mutation_p.Q170H	p.Q242H	NM_000857	NP_000848	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	6	893	+	all_hematologic(180;0.24)	Renal(120;0.0854)	242					B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	c.726G>T	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488306	0.64074	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	D;D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	5.93	5.93	0.95920	Haem NO binding associated (1);	0.000000	0.85682	D	0.000000	T	0.79353	0.4431	N	0.02960	-0.455	0.80722	D	1	B;B;B;B;B	0.24483	0.012;0.016;0.029;0.104;0.074	B;B;B;B;B	0.26202	0.028;0.046;0.06;0.04;0.067	T	0.74225	-0.3734	10	0.41790	T	0.15	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	222;264;174;242;242	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	H	174;264;222;174;242;242;174	ENSP00000427226:Q174H;ENSP00000426786:Q264H;ENSP00000426319:Q222H;ENSP00000422313:Q174H;ENSP00000264424:Q242H;ENSP00000420842:Q242H;ENSP00000425065:Q174H	ENSP00000264424:Q242H	Q	+	3	2	GUCY1B3	156934688	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.476000	0.97823	2.805000	0.96524	0.655000	0.94253	CAG		PASS	0.423	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2		Missense_Mutation	16	16	16	16	---	---	---	---
NPY5R	4889	broad.mit.edu	37	4	164271902	164271902	+	Silent	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:164271902G>C	ENST00000515560.1	+	4	1999	c.477G>C	c.(475-477)ctG>ctC	p.L159L	NPY5R_ENST00000506953.1_Silent_p.L159L|NPY5R_ENST00000338566.3_Silent_p.L159L			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	159					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.L159L(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GCTACTTTCTGATAGCTACTG	0.368																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2																			1	Substitution - coding silent(1)		lung(1)	lung(6)|skin(1)	7						c.(475-477)CTG>CTC		neuropeptide Y receptor Y5							198.0	201.0	200.0					4																	164271902		2203	4300	6503	SO:0001819	synonymous_variant	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271902G>C	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.477G>C	4.37:g.164271902G>C							p.L159L	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	659	+	all_hematologic(180;0.166)	Prostate(90;0.109)	159			Helical; Name=4; (Potential).		Q6GTR7|Q92916	Silent	SNP	ENST00000515560.1	37	c.477G>C	CCDS3804.1																																																																																				PASS	0.368	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		58	159	58	159	---	---	---	---
TKTL2	84076	broad.mit.edu	37	4	164393427	164393427	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:164393427G>C	ENST00000280605.3	-	1	1620	c.1460C>G	c.(1459-1461)cCa>cGa	p.P487R		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	487						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.P487R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATTTTCTTGTGGGGTATAAAT	0.463																																						uc003iqp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(1459-1461)CCA>CGA		transketolase-like 2							113.0	119.0	117.0					4																	164393427		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393427G>C	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1460C>G	4.37:g.164393427G>C	ENSP00000280605:p.Pro487Arg						p.P487R	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	1621	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	487					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.1460C>G	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	9.300	1.052792	0.19907	.	.	ENSG00000151005	ENST00000280605	D	0.91740	-2.9	4.15	4.15	0.48705	.	0.192855	0.45126	D	0.000381	D	0.89660	0.6779	L	0.60067	1.865	0.09310	N	1	P	0.36495	0.556	B	0.39027	0.288	T	0.82041	-0.0654	10	0.30078	T	0.28	-1.9798	12.2328	0.54497	0.0:0.0:1.0:0.0	.	487	Q9H0I9	TKTL2_HUMAN	R	487	ENSP00000280605:P487R	ENSP00000280605:P487R	P	-	2	0	TKTL2	164612877	0.871000	0.30034	0.010000	0.14722	0.934000	0.57294	4.285000	0.58989	2.611000	0.88343	0.650000	0.86243	CCA		PASS	0.463	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		44	113	44	113	---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169158919	169158919	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:169158919G>A	ENST00000393743.3	-	31	4483	c.4192C>T	c.(4192-4194)Ctg>Ttg	p.L1398L		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1398					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.L1398L(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTGAAGGACAGCAATGAATGC	0.348																																						uc003irp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(4192-4194)CTG>TTG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							113.0	104.0	107.0					4																	169158919		2203	4299	6502	SO:0001819	synonymous_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169158919G>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.4192C>T	4.37:g.169158919G>A							p.L1398L	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	31	4484	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1398					Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	37	c.4192C>T	CCDS34097.1																																																																																				PASS	0.348	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		42	41	42	41	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177100702	177100702	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:177100702G>T	ENST00000280190.4	+	31	4097	c.3941G>T	c.(3940-3942)gGg>gTg	p.G1314V	WDR17_ENST00000393643.2_Missense_Mutation_p.G1290V|WDR17_ENST00000508596.1_Missense_Mutation_p.G1275V|WDR17_ENST00000507824.2_Missense_Mutation_p.G1289V			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1314								p.G1314V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCACCTTTAGGGACTGGAATA	0.388																																						uc003iuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(3940-3942)GGG>GTG		WD repeat domain 17 isoform 1							149.0	136.0	140.0					4																	177100702		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177100702G>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3941G>T	4.37:g.177100702G>T	ENSP00000280190:p.Gly1314Val					WDR17_uc003iuk.2_Missense_Mutation_p.G1290V|WDR17_uc003ium.3_Missense_Mutation_p.G1275V|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.G525V	p.G1314V	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	31	4097	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1314					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.3941G>T	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.809025|4.809025	0.90707|0.90707	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.62498|.	0.05;0.08;0.02|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77592|0.77592	0.4153|0.4153	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.75659|0.75659	-0.3241|-0.3241	10|5	0.72032|.	D|.	0.01|.	-17.2352|-17.2352	19.9855|19.9855	0.97347|0.97347	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1290;1275;1314|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	V|S	1275;1290;1314;1290|548	ENSP00000422763:G1275V;ENSP00000377258:G1290V;ENSP00000280190:G1314V|.	ENSP00000280190:G1314V|.	G|R	+|+	2|3	0|2	WDR17|WDR17	177337696|177337696	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.700000|9.700000	0.98707|0.98707	2.806000|2.806000	0.96561|0.96561	0.655000|0.655000	0.94253|0.94253	GGG|AGG		PASS	0.388	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			40	61	40	61	---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189020207	189020207	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr4:189020207G>A	ENST00000512729.1	-	4	827	c.453C>T	c.(451-453)ggC>ggT	p.G151G	TRIML2_ENST00000326754.3_Silent_p.G151G|TRIML2_ENST00000536972.1_Silent_p.G201G	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	151					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.G151G(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATGCCAAGGTGCCTTCCCCAC	0.458																																						uc003izl.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(451-453)GGC>GGT		tripartite motif family-like 2							90.0	85.0	87.0					4																	189020207		2203	4300	6503	SO:0001819	synonymous_variant	205860						ligase activity	g.chr4:189020207G>A	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.453C>T	4.37:g.189020207G>A						TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Silent_p.G201G|TRIML2_uc011clf.1_Silent_p.G201G	p.G151G	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	4	489	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	151					B7Z6J6	Silent	SNP	ENST00000512729.1	37	c.453C>T	CCDS3850.1																																																																																				PASS	0.458	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		18	62	18	62	---	---	---	---
SLC9A3	6550	broad.mit.edu	37	5	482234	482234	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:482234C>A	ENST00000264938.3	-	8	1404	c.1395G>T	c.(1393-1395)gtG>gtT	p.V465V	CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.V456V	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	465					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)	p.V465V(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGCTCCTCTTCACCTTCAGCC	0.706																																						uc003jbe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1393-1395)GTG>GTT		solute carrier family 9 (sodium/hydrogen							38.0	37.0	37.0					5																	482234		2202	4300	6502	SO:0001819	synonymous_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:482234C>A		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1395G>T	5.37:g.482234C>A						SLC9A3_uc011clx.1_Silent_p.V456V	p.V465V	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		8	1507	-			465			Cytoplasmic (Potential).		B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	c.1395G>T	CCDS3855.1																																																																																				PASS	0.706	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		6	15	6	15	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7520856	7520856	+	Silent	SNP	G	G	T	rs139006667		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:7520856G>T	ENST00000338316.4	+	3	503	c.414G>T	c.(412-414)tcG>tcT	p.S138S		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	138					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.S138S(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGTAGGTATCGTTCTTCCTCT	0.498																																						uc003jdz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(412-414)TCG>TCT		adenylate cyclase 2							151.0	108.0	122.0					5																	7520856		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7520856G>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.414G>T	5.37:g.7520856G>T							p.S138S	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			3	481	+			138			Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.414G>T	CCDS3872.2																																																																																				PASS	0.498	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		9	45	9	45	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7743796	7743796	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:7743796C>A	ENST00000338316.4	+	15	1976	c.1887C>A	c.(1885-1887)ggC>ggA	p.G629G	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.G449G	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	629					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.G629G(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCGTCCTGGGCATCTCCTTTG	0.488																																						uc003jdz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(1885-1887)GGC>GGA		adenylate cyclase 2							366.0	327.0	340.0					5																	7743796		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7743796C>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1887C>A	5.37:g.7743796C>A						ADCY2_uc011cmo.1_Silent_p.G449G	p.G629G	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			15	1954	+			629			Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.1887C>A	CCDS3872.2																																																																																				PASS	0.488	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		102	190	102	190	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13770908	13770908	+	Nonsense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:13770908A>T	ENST00000265104.4	-	56	9659	c.9555T>A	c.(9553-9555)taT>taA	p.Y3185*	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3185	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Y3185*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATATGAACTTATAGCCCTGAA	0.458									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(9553-9555)TAT>TAA		dynein, axonemal, heavy chain 5							106.0	99.0	102.0					5																	13770908		2203	4300	6503	SO:0001587	stop_gained	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13770908A>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9555T>A	5.37:g.13770908A>T	ENSP00000265104:p.Tyr3185*					DNAH5_uc003jfc.2_5'Flank	p.Y3185*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			56	9597	-	Lung NSC(4;0.00476)		3185			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.9555T>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	51	18.292288	0.99902	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.81	2.12	0.27331	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5342	0.33353	0.7114:0.0:0.2886:0.0	.	.	.	.	X	3185	.	ENSP00000265104:Y3185X	Y	-	3	2	DNAH5	13823908	1.000000	0.71417	0.996000	0.52242	0.526000	0.34562	0.867000	0.27968	0.123000	0.18342	0.533000	0.62120	TAT		PASS	0.458	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		18	41	18	41	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23509588	23509588	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:23509588G>T	ENST00000296682.3	+	3	261	c.79G>T	c.(79-81)Gcc>Tcc	p.A27S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	27	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.A27S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGTCAAAGATGCCTTCAAAGA	0.438										HNSCC(3;0.000094)																												uc003jgo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(79-81)GCC>TCC		PR domain containing 9							187.0	178.0	181.0					5																	23509588		1869	4112	5981	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23509588G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.79G>T	5.37:g.23509588G>T	ENSP00000296682:p.Ala27Ser	HNSCC(3;0.000094)					p.A27S	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			3	261	+			27			KRAB-related.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.79G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346251	0.24426	.	.	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.00776	5.71;5.71	2.76	0.765	0.18470	Krueppel-associated box (2);Krueppel-associated box-related (1);	.	.	.	.	T	0.00496	0.0016	N	0.04090	-0.28	0.18873	N	0.999989	P	0.35033	0.481	B	0.36335	0.222	T	0.47886	-0.9082	9	0.41790	T	0.15	0.6558	3.1967	0.06635	0.1512:0.0:0.592:0.2568	.	27	Q9NQV7	PRDM9_HUMAN	S	27	ENSP00000425471:A27S;ENSP00000296682:A27S	ENSP00000296682:A27S	A	+	1	0	PRDM9	23545345	0.998000	0.40836	0.977000	0.42913	0.605000	0.37080	1.300000	0.33436	0.176000	0.19873	0.609000	0.83330	GCC		PASS	0.438	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		30	138	30	138	---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33937291	33937291	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:33937291C>A	ENST00000330120.3	+	1	801	c.446C>A	c.(445-447)cCc>cAc	p.P149H		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	149					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.P149H(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TTCAAATGGCCCTTCGGCAAG	0.547																																						uc003jic.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(445-447)CCC>CAC		relaxin/insulin-like family peptide receptor 3							136.0	121.0	126.0					5																	33937291		2203	4300	6503	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937291C>A	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.446C>A	5.37:g.33937291C>A	ENSP00000328708:p.Pro149His						p.P149H	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	803	+			149			Extracellular (Potential).		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.446C>A	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296503	0.60086	.	.	ENSG00000182631	ENST00000330120	T	0.26660	1.72	5.53	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.200049	0.45867	D	0.000329	T	0.52725	0.1752	M	0.91196	3.185	0.34267	D	0.680537	D	0.89917	1.0	D	0.79108	0.992	T	0.68538	-0.5382	10	0.87932	D	0	-40.5252	5.2494	0.15514	0.0:0.7226:0.0:0.2774	.	149	Q9NSD7	RL3R1_HUMAN	H	149	ENSP00000328708:P149H	ENSP00000328708:P149H	P	+	2	0	RXFP3	33973048	0.946000	0.32159	1.000000	0.80357	0.954000	0.61252	1.070000	0.30653	2.598000	0.87819	0.650000	0.86243	CCC		PASS	0.547	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		31	81	31	81	---	---	---	---
OSMR	9180	broad.mit.edu	37	5	38881806	38881806	+	Missense_Mutation	SNP	G	G	A	rs370592814		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:38881806G>A	ENST00000274276.3	+	4	760	c.358G>A	c.(358-360)Gat>Aat	p.D120N	OSMR_ENST00000502536.1_Missense_Mutation_p.D120N	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	120					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)	p.D120N(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTTGGTGGACGATGCCAAGTT	0.473																																						uc003jln.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(358-360)GAT>AAT		oncostatin M receptor precursor							94.0	96.0	95.0					5																	38881806		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38881806G>A	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.358G>A	5.37:g.38881806G>A	ENSP00000274276:p.Asp120Asn					OSMR_uc003jlm.1_Missense_Mutation_p.D120N	p.D120N	NM_003999	NP_003990	Q99650	OSMR_HUMAN			4	725	+	all_lung(31;0.000365)		120			Extracellular (Potential).		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.358G>A	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001510	0.54254	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	T;T	0.64085	-0.08;-0.08	5.81	4.03	0.46877	.	0.435722	0.23904	N	0.043415	T	0.73598	0.3607	M	0.70275	2.135	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.974;0.989	T	0.62737	-0.6791	10	0.31617	T	0.26	.	8.7583	0.34658	0.1723:0.0:0.8277:0.0	.	120;120	Q99650;Q99650-2	OSMR_HUMAN;.	N	120	ENSP00000422023:D120N;ENSP00000274276:D120N	ENSP00000274276:D120N	D	+	1	0	OSMR	38917563	0.963000	0.33076	0.008000	0.14137	0.032000	0.12392	2.813000	0.48002	0.798000	0.33994	0.655000	0.94253	GAT		PASS	0.473	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		41	72	41	72	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43659318	43659318	+	Missense_Mutation	SNP	G	G	T	rs372546826		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:43659318G>T	ENST00000264663.5	+	17	2721	c.2500G>T	c.(2500-2502)Gtt>Ttt	p.V834F	NNT_ENST00000344920.4_Missense_Mutation_p.V834F|NNT_ENST00000512996.2_Missense_Mutation_p.V703F	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	834					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.V834F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CATGCCCGTCGTTATCACTGT	0.473																																						uc003joe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2500-2502)GTT>TTT		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						174.0	162.0	166.0					5																	43659318		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43659318G>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2500G>T	5.37:g.43659318G>T	ENSP00000264663:p.Val834Phe					NNT_uc003jof.2_Missense_Mutation_p.V834F	p.V834F	NM_012343	NP_036475	Q13423	NNTM_HUMAN			17	2755	+	Lung NSC(6;2.58e-06)		834			Helical; (Potential).		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.2500G>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137403	0.94517	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.94758	-3.51;-3.51;-3.51	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.98582	0.9526	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99060	1.0830	10	0.87932	D	0	-20.7775	20.3325	0.98724	0.0:0.0:1.0:0.0	.	834	Q13423	NNTM_HUMAN	F	349;834;834;703	ENSP00000264663:V834F;ENSP00000343873:V834F;ENSP00000426343:V703F	ENSP00000264663:V834F	V	+	1	0	NNT	43695075	1.000000	0.71417	0.956000	0.39512	0.812000	0.45895	9.476000	0.97823	2.805000	0.96524	0.655000	0.94253	GTT		PASS	0.473	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		70	107	70	107	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262680	45262680	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:45262680G>T	ENST00000303230.4	-	8	2073	c.2016C>A	c.(2014-2016)agC>agA	p.S672R		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	672					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.S672R(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTGAGACAGGCTGGTCGCTG	0.587																																						uc003jok.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2014-2016)AGC>AGA		hyperpolarization activated cyclic							134.0	132.0	133.0					5																	45262680		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262680G>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2016C>A	5.37:g.45262680G>T	ENSP00000307342:p.Ser672Arg						p.S672R	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2041	-			672			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.2016C>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080433	0.36662	.	.	ENSG00000164588	ENST00000303230	D	0.97710	-4.5	5.39	-6.07	0.02158	.	0.071589	0.56097	D	0.000029	D	0.95472	0.8529	L	0.43152	1.355	0.39700	D	0.97116	P	0.50272	0.933	P	0.44860	0.462	D	0.89975	0.4096	10	0.52906	T	0.07	.	20.8808	0.99940	0.1802:0.0:0.8198:0.0	.	672	O60741	HCN1_HUMAN	R	672	ENSP00000307342:S672R	ENSP00000307342:S672R	S	-	3	2	HCN1	45298437	0.214000	0.23563	0.830000	0.32933	0.970000	0.65996	-0.305000	0.08188	-1.381000	0.02112	-0.471000	0.05019	AGC		PASS	0.587	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		17	34	17	34	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45461983	45461983	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:45461983G>T	ENST00000303230.4	-	3	1033	c.976C>A	c.(976-978)Cca>Aca	p.P326T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	326					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.P326T(2)|p.P326S(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAATCTGGTGGGAAGTCCTGC	0.408																																						uc003jok.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(976-978)CCA>ACA		hyperpolarization activated cyclic							72.0	71.0	71.0					5																	45461983		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45461983G>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.976C>A	5.37:g.45461983G>T	ENSP00000307342:p.Pro326Thr						p.P326T	NM_021072	NP_066550	O60741	HCN1_HUMAN			3	1001	-			326			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.976C>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902319	0.92035	.	.	ENSG00000164588	ENST00000303230	D	0.98329	-4.87	5.73	5.73	0.89815	Ion transport (1);	0.208456	0.33959	N	0.004387	D	0.98523	0.9507	M	0.78285	2.405	0.80722	D	1	P	0.41041	0.736	P	0.50440	0.641	D	0.99651	1.0991	10	0.87932	D	0	.	19.8983	0.96975	0.0:0.0:1.0:0.0	.	326	O60741	HCN1_HUMAN	T	326	ENSP00000307342:P326T	ENSP00000307342:P326T	P	-	1	0	HCN1	45497740	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.857000	0.99534	2.718000	0.92993	0.650000	0.86243	CCA		PASS	0.408	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		6	24	6	24	---	---	---	---
KIF2A	3796	broad.mit.edu	37	5	61648442	61648442	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:61648442G>T	ENST00000401507.3	+	5	673	c.362G>T	c.(361-363)aGt>aTt	p.S121I	KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Missense_Mutation_p.S121I|KIF2A_ENST00000506857.1_Missense_Mutation_p.S94I|KIF2A_ENST00000381103.2_Missense_Mutation_p.S101I	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	121	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.S94I(1)|p.S121I(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		GCACGGCCCAGTCAATTTCCT	0.378																																						uc003jsy.3																			2	Substitution - Missense(2)		lung(2)		0						c.(361-363)AGT>ATT		kinesin heavy chain member 2 isoform 1							80.0	68.0	72.0					5																	61648442		2201	4299	6500	SO:0001583	missense	3796				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding	g.chr5:61648442G>T	BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.362G>T	5.37:g.61648442G>T	ENSP00000385622:p.Ser121Ile					KIF2A_uc003jsz.3_Missense_Mutation_p.S121I|KIF2A_uc010iwp.2_Missense_Mutation_p.S121I|KIF2A_uc003jsx.3_Missense_Mutation_p.S101I|KIF2A_uc010iwq.2_5'UTR	p.S121I	NM_004520	NP_004511	O00139	KIF2A_HUMAN		Lung(70;0.14)	5	673	+		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)	121			Globular (Potential).		A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	ENST00000401507.3	37	c.362G>T	CCDS3980.2	.	.	.	.	.	.	.	.	.	.	G	7.021	0.558613	0.13436	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000514082;ENST00000407818;ENST00000506857	T;T;T;T;T	0.74632	-0.69;-0.68;1.83;-0.86;-0.7	5.33	3.52	0.40303	.	0.581162	0.20964	N	0.082506	T	0.66436	0.2789	L	0.46157	1.445	0.32246	N	0.572125	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.10450	0.005;0.004;0.001;0.001	T	0.66760	-0.5842	10	0.51188	T	0.08	.	10.1873	0.43006	0.0764:0.3211:0.6025:0.0	.	121;121;121;101	B4DM85;O00139-4;O00139;E9PB70	.;.;KIF2A_HUMAN;.	I	121;101;121;121;94	ENSP00000385622:S121I;ENSP00000370493:S101I;ENSP00000423542:S121I;ENSP00000385000:S121I;ENSP00000423772:S94I	ENSP00000370493:S101I	S	+	2	0	KIF2A	61684199	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	1.879000	0.39618	0.613000	0.30089	0.591000	0.81541	AGT		PASS	0.378	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520		7	13	7	13	---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63256827	63256827	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:63256827G>A	ENST00000323865.3	-	1	953	c.720C>T	c.(718-720)acC>acT	p.T240T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	240					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.T240T(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CTCCATGGCGGGTGTCCGCTC	0.632																																						uc011cqt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)	4						c.(718-720)ACC>ACT		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						53.0	56.0	55.0					5																	63256827		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256827G>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.720C>T	5.37:g.63256827G>A							p.T240T	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	720	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	240			Cytoplasmic (By similarity).		Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.720C>T	CCDS34168.1																																																																																				PASS	0.632	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		30	45	30	45	---	---	---	---
MAST4	375449	broad.mit.edu	37	5	66460076	66460076	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:66460076G>T	ENST00000403625.2	+	29	5364	c.5069G>T	c.(5068-5070)cGa>cTa	p.R1690L	MAST4_ENST00000404260.3_Missense_Mutation_p.R1693L|MAST4_ENST00000403666.1_Missense_Mutation_p.R1501L|MAST4_ENST00000405643.1_Missense_Mutation_p.R1511L|MAST4_ENST00000261569.7_Missense_Mutation_p.R1496L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1693						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R1693L(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GATTACCTCCGAAAGAAAATG	0.547																																						uc003jut.1																			1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(4501-4503)CGA>CTA		microtubule associated serine/threonine kinase							43.0	44.0	44.0					5																	66460076		2001	4178	6179	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66460076G>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.5069G>T	5.37:g.66460076G>T	ENSP00000385727:p.Arg1690Leu					MAST4_uc003juw.2_Missense_Mutation_p.R1429L|MAST4_uc003jux.2_5'Flank	p.R1501L	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	28	4570	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1693					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.4502G>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380677	0.82792	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.74842	-0.86;-0.86;-0.87;-0.88;-0.85	5.09	5.09	0.68999	.	0.149296	0.31113	N	0.008240	T	0.79534	0.4462	L	0.34521	1.04	0.40708	D	0.982548	D;D	0.69078	0.994;0.997	P;P	0.62089	0.687;0.898	T	0.82408	-0.0472	10	0.87932	D	0	-5.4143	18.6819	0.91549	0.0:0.0:1.0:0.0	.	1693;1501	O15021;O15021-3	MAST4_HUMAN;.	L	1693;1690;1501;1511;1511;1496	ENSP00000385048:R1693L;ENSP00000385727:R1690L;ENSP00000384313:R1501L;ENSP00000384099:R1511L;ENSP00000261569:R1496L	ENSP00000261569:R1496L	R	+	2	0	MAST4	66495832	1.000000	0.71417	0.990000	0.47175	0.539000	0.34962	9.263000	0.95617	2.629000	0.89072	0.655000	0.94253	CGA		PASS	0.547	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			9	11	9	11	---	---	---	---
TAF9	6880	broad.mit.edu	37	5	68661401	68661401	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:68661401T>G	ENST00000328663.4	-	3	630	c.164A>C	c.(163-165)aAa>aCa	p.K55T	TAF9_ENST00000380818.3_Intron|TAF9_ENST00000506736.1_Missense_Mutation_p.K55T|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000217893.5_Missense_Mutation_p.K55T|TAF9_ENST00000502819.1_Intron	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	55					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|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)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.K55T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		TGAATAAATTTTTGCATCATC	0.428																																						uc003jwc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(163-165)AAA>ACA		TAF9 RNA polymerase II, TATA box binding							118.0	114.0	116.0					5																	68661401		2203	4300	6503	SO:0001583	missense	6880				histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr5:68661401T>G	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.164A>C	5.37:g.68661401T>G	ENSP00000370193:p.Lys55Thr					TAF9_uc003jwa.2_Intron|TAF9_uc003jwb.2_Intron|TAF9_uc003jwd.1_Missense_Mutation_p.K55T|TAF9_uc003jwe.1_Missense_Mutation_p.K55T|TAF9_uc003jwf.1_Missense_Mutation_p.K55T	p.K55T	NM_003187	NP_003178	Q16594	TAF9_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	2	496	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	55					D3DWA3|Q5U0D1|Q9BTS1	Missense_Mutation	SNP	ENST00000328663.4	37	c.164A>C	CCDS4002.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.853360	0.51270	.	.	ENSG00000085231	ENST00000506736;ENST00000328663;ENST00000217893;ENST00000503245;ENST00000509462;ENST00000504109;ENST00000512152;ENST00000508954	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.16	5.16	0.70880	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.49712	0.1573	L	0.58583	1.82	0.80722	D	1	B	0.22604	0.072	B	0.32980	0.156	T	0.53194	-0.8473	10	0.87932	D	0	-5.6115	13.2768	0.60191	0.0:0.0:0.0:1.0	.	55	Q16594	TAF9_HUMAN	T	55	ENSP00000421873:K55T;ENSP00000370193:K55T;ENSP00000217893:K55T;ENSP00000425944:K55T;ENSP00000427343:K55T;ENSP00000426283:K55T;ENSP00000425798:K55T;ENSP00000427617:K55T	ENSP00000217893:K55T	K	-	2	0	TAF9	68697157	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.278000	0.78587	2.306000	0.77630	0.533000	0.62120	AAA		PASS	0.428	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187		30	64	30	64	---	---	---	---
GTF2H2	2966	broad.mit.edu	37	5	70338049	70338049	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:70338049C>A	ENST00000330280.7	-	14	1171	c.884G>T	c.(883-885)cGg>cTg	p.R295L	GTF2H2_ENST00000517900.1_Intron|GTF2H2_ENST00000274400.5_Missense_Mutation_p.R295L|GTF2H2_ENST00000425596.2_Missense_Mutation_p.R238L			Q13888	TF2H2_HUMAN	general transcription factor IIH, polypeptide 2, 44kDa	295					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G-protein coupled receptor internalization (GO:0002031)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	nucleic acid binding (GO:0003676)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)|zinc ion binding (GO:0008270)	p.R295L(1)		endometrium(1)|lung(1)|urinary_tract(1)	3		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GTACTTTGCCCGACACTGTGG	0.393								Nucleotide excision repair (NER)																													Esophageal Squamous(64;995 1128 1466 1620 27952)	uc003kav.3																			1	Substitution - Missense(1)		lung(1)		0						c.(883-885)CGG>CTG	NER	general transcription factor IIH, polypeptide 2,							74.0	70.0	71.0					5																	70338049		1673	2979	4652	SO:0001583	missense	2966				G-protein coupled receptor internalization|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|response to UV|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding|zinc ion binding	g.chr5:70338049C>A	Z30094	CCDS34183.1	5q13.2	2012-11-05	2002-08-29		ENSG00000145736	ENSG00000145736		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4656	protein-coding gene	gene with protein product		601748	"""general transcription factor IIH, polypeptide 2 (44kD subunit)"""			8194529	Standard	NM_001515		Approved	BTF2, TFIIH, BTF2P44, T-BTF2P44, p44	uc003kav.4	Q13888	OTTHUMG00000164542	ENST00000330280.7:c.884G>T	5.37:g.70338049C>A	ENSP00000328901:p.Arg295Leu					NAIP_uc003kat.1_Intron|GTF2H2_uc003kau.3_Missense_Mutation_p.R295L|GTF2H2_uc011crt.1_Missense_Mutation_p.R238L	p.R295L	NM_001515	NP_001506	Q13888	TF2H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	13	1094	-		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	295			C4-type.		Q15570|Q15571|Q9BS41	Missense_Mutation	SNP	ENST00000330280.7	37	c.884G>T	CCDS34183.1	.	.	.	.	.	.	.	.	.	.	C	6.936	0.542388	0.13250	.	.	ENSG00000145736	ENST00000274400;ENST00000330280;ENST00000425596;ENST00000522323	T;T;T	0.50813	0.73;0.73;0.73	2.84	2.84	0.33178	TFIIH C1-like, C-terminal (1);	0.242565	0.39210	N	0.001427	T	0.38348	0.1037	L	0.50333	1.59	0.47737	D	0.999502	B	0.06786	0.001	B	0.04013	0.001	T	0.23261	-1.0193	10	0.12103	T	0.63	-0.0129	13.4888	0.61382	0.0:1.0:0.0:0.0	.	295	Q13888	TF2H2_HUMAN	L	295;295;238;295	ENSP00000274400:R295L;ENSP00000328901:R295L;ENSP00000394164:R238L	ENSP00000274400:R295L	R	-	2	0	GTF2H2	70373805	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.802000	0.62539	1.885000	0.54596	0.536000	0.68110	CGG		PASS	0.393	GTF2H2-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372632.4	NM_001515		50	23	50	23	---	---	---	---
ZFYVE16	9765	broad.mit.edu	37	5	79743890	79743890	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:79743890C>T	ENST00000338008.5	+	7	2950	c.2770C>T	c.(2770-2772)Cca>Tca	p.P924S	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P924S|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P924S	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	924					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)	p.P924S(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AGTGGAAAAGCCAAACAATGA	0.328																																					Melanoma(150;1452 1854 16018 17851 37292)	uc003kgr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2770-2772)CCA>TCA		zinc finger, FYVE domain containing 16							80.0	79.0	79.0					5																	79743890		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79743890C>T	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2770C>T	5.37:g.79743890C>T	ENSP00000337159:p.Pro924Ser					ZFYVE16_uc003kgp.2_Missense_Mutation_p.P924S|ZFYVE16_uc003kgq.3_Missense_Mutation_p.P924S|ZFYVE16_uc003kgs.3_Missense_Mutation_p.P924S|ZFYVE16_uc003kgt.3_Intron	p.P924S	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	8	3072	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	924					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.2770C>T	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696757	0.30142	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.37235	1.21;1.21;1.21	5.43	-8.45	0.00946	.	0.907949	0.09386	N	0.809247	T	0.14399	0.0348	N	0.17082	0.46	0.24123	N	0.995791	B	0.13594	0.008	B	0.10450	0.005	T	0.15723	-1.0427	10	0.25751	T	0.34	0.6803	3.2596	0.06844	0.419:0.2162:0.2522:0.1126	.	924	Q7Z3T8	ZFY16_HUMAN	S	924	ENSP00000337159:P924S;ENSP00000423663:P924S;ENSP00000426848:P924S	ENSP00000337159:P924S	P	+	1	0	ZFYVE16	79779646	0.000000	0.05858	0.018000	0.16275	0.867000	0.49689	-1.996000	0.01471	-1.819000	0.01216	0.650000	0.86243	CCA		PASS	0.328	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		7	26	7	26	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82833026	82833026	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:82833026G>A	ENST00000265077.3	+	8	4769	c.4204G>A	c.(4204-4206)Gtg>Atg	p.V1402M	VCAN_ENST00000343200.5_Missense_Mutation_p.V415M|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1402	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.V1402M(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGCTACTGATGTGACAACCAC	0.448																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(4204-4206)GTG>ATG		versican isoform 1 precursor							46.0	48.0	47.0					5																	82833026		2203	4299	6502	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82833026G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4204G>A	5.37:g.82833026G>A	ENSP00000265077:p.Val1402Met					VCAN_uc003kij.3_Missense_Mutation_p.V415M|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.V66M	p.V1402M	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	4560	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1402			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.4204G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144639	0.37825	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.93953	-3.32;-2.95;2.14	5.68	3.88	0.44766	.	0.116279	0.38492	N	0.001671	D	0.94922	0.8358	M	0.72894	2.215	0.32845	D	0.505825	D;D	0.67145	0.994;0.996	P;P	0.58780	0.845;0.794	D	0.95816	0.8845	10	0.87932	D	0	.	11.6326	0.51185	0.0673:0.1246:0.8081:0.0	.	415;1402	P13611-2;P13611	.;CSPG2_HUMAN	M	1402;415;415	ENSP00000265077:V1402M;ENSP00000340062:V415M;ENSP00000426251:V415M	ENSP00000265077:V1402M	V	+	1	0	VCAN	82868782	0.990000	0.36364	0.002000	0.10522	0.305000	0.27757	5.145000	0.64839	0.743000	0.32719	-0.181000	0.13052	GTG		PASS	0.448	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		13	25	13	25	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82836960	82836960	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:82836960C>T	ENST00000265077.3	+	8	8703	c.8138C>T	c.(8137-8139)gCa>gTa	p.A2713V	VCAN_ENST00000343200.5_Missense_Mutation_p.A1726V|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2713	GAG-beta.			IKAEA -> EFREV (in Ref. 7; AAA36437). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.A2713V(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAAGCTGAAGCAAAAGCCCTG	0.418																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(8137-8139)GCA>GTA		versican isoform 1 precursor							59.0	55.0	56.0					5																	82836960		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82836960C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8138C>T	5.37:g.82836960C>T	ENSP00000265077:p.Ala2713Val					VCAN_uc003kij.3_Missense_Mutation_p.A1726V|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.A1377V	p.A2713V	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	8494	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2713	IKAEA -> EFREV (in Ref. 7; AAA36437).		GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.8138C>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	9.877	1.200481	0.22121	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.36157	1.27;1.27	6.17	2.35	0.29111	.	0.746995	0.12694	N	0.446968	T	0.32285	0.0824	M	0.62723	1.935	0.41843	D	0.990133	B;B	0.20671	0.047;0.028	B;B	0.19391	0.025;0.016	T	0.08027	-1.0742	10	0.32370	T	0.25	.	6.1744	0.20434	0.1304:0.6643:0.0:0.2053	.	1726;2713	P13611-2;P13611	.;CSPG2_HUMAN	V	2713;1726	ENSP00000265077:A2713V;ENSP00000340062:A1726V	ENSP00000265077:A2713V	A	+	2	0	VCAN	82872716	0.000000	0.05858	0.214000	0.23707	0.013000	0.08279	-0.099000	0.11007	0.496000	0.27904	-0.136000	0.14681	GCA		PASS	0.418	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		23	27	23	27	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82841364	82841364	+	Missense_Mutation	SNP	C	C	A	rs370120896		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:82841364C>A	ENST00000265077.3	+	9	9839	c.9274C>A	c.(9274-9276)Cgc>Agc	p.R3092S	VCAN_ENST00000343200.5_Missense_Mutation_p.R2105S|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Missense_Mutation_p.R351S|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Missense_Mutation_p.R1290S|VCAN_ENST00000342785.4_Missense_Mutation_p.R1338S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3092	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.R3092S(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AGGACCTGATCGCTGCAAAAT	0.458																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(9274-9276)CGC>AGC		versican isoform 1 precursor							219.0	214.0	216.0					5																	82841364		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82841364C>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9274C>A	5.37:g.82841364C>A	ENSP00000265077:p.Arg3092Ser					VCAN_uc003kij.3_Missense_Mutation_p.R2105S|VCAN_uc010jau.2_Missense_Mutation_p.R1338S|VCAN_uc003kik.3_Missense_Mutation_p.R351S|VCAN_uc003kil.3_Missense_Mutation_p.R1756S	p.R3092S	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	9	9630	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3092			EGF-like 1.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.9274C>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.239675	0.39598	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	D;D;D;D;D	0.98362	-2.02;-2.02;-4.89;-4.89;-4.89	5.83	5.83	0.93111	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.360093	0.23937	N	0.043096	D	0.92502	0.7619	N	0.00864	-1.135	0.26207	N	0.97935	B;B;B;B	0.23854	0.017;0.001;0.013;0.092	B;B;B;B	0.19666	0.017;0.001;0.014;0.026	T	0.82313	-0.0519	10	0.42905	T	0.14	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	1338;351;2105;3092	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	S	3092;2105;1338;1290;351	ENSP00000265077:R3092S;ENSP00000340062:R2105S;ENSP00000342768:R1338S;ENSP00000425959:R1290S;ENSP00000421362:R351S	ENSP00000265077:R3092S	R	+	1	0	VCAN	82877120	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	5.335000	0.65929	2.769000	0.95229	0.655000	0.94253	CGC		PASS	0.458	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		41	138	41	138	---	---	---	---
MEF2C	4208	broad.mit.edu	37	5	88047822	88047822	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:88047822G>A	ENST00000437473.2	-	5	858	c.441C>T	c.(439-441)atC>atT	p.I147I	MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000424173.2_Silent_p.I145I|MEF2C_ENST00000506554.1_Silent_p.I147I|MEF2C_ENST00000514015.1_Silent_p.I147I|MEF2C_ENST00000514028.1_Silent_p.I147I|MEF2C_ENST00000504921.2_Silent_p.I147I|MEF2C_ENST00000510942.1_Silent_p.I147I|MEF2C_ENST00000340208.5_Silent_p.I165I|MEF2C_ENST00000539796.1_Silent_p.I99I|MEF2C_ENST00000508569.1_Silent_p.I147I	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	147	Ser-rich.				apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.I147I(2)|p.I145I(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGGACACTGGGATGGAGACTG	0.478										HNSCC(66;0.2)																												uc003kjj.2																			3	Substitution - coding silent(3)		lung(3)	lung(3)|breast(2)|ovary(1)|large_intestine(1)	7						c.(439-441)ATC>ATT		myocyte enhancer factor 2C isoform 1							129.0	129.0	129.0					5																	88047822		1943	4162	6105	SO:0001819	synonymous_variant	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88047822G>A	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.441C>T	5.37:g.88047822G>A		HNSCC(66;0.2)				MEF2C_uc003kji.2_Silent_p.I147I|MEF2C_uc003kjk.2_Silent_p.I147I|MEF2C_uc003kjm.2_Silent_p.I145I|MEF2C_uc003kjl.2_Silent_p.I165I	p.I147I	NM_002397	NP_002388	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	5	1114	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	147			Ser-rich.		C9JMZ0|D7F7N5|F8W7V7	Silent	SNP	ENST00000437473.2	37	c.441C>T	CCDS47245.1																																																																																				PASS	0.478	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		20	58	20	58	---	---	---	---
SLCO4C1	353189	broad.mit.edu	37	5	101582983	101582983	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:101582983C>G	ENST00000310954.6	-	10	2070	c.1784G>C	c.(1783-1785)gGt>gCt	p.G595A		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.G595A(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TATAGGAGTACCGGCCATAAA	0.378																																						uc003knm.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4						c.(1783-1785)GGT>GCT		solute carrier organic anion transporter family,							79.0	86.0	83.0					5																	101582983		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101582983C>G	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1784G>C	5.37:g.101582983C>G	ENSP00000309741:p.Gly595Ala						p.G595A	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	10	2071	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	595			Helical; Name=10; (Potential).			Missense_Mutation	SNP	ENST00000310954.6	37	c.1784G>C	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	8.759	0.923030	0.18056	.	.	ENSG00000173930	ENST00000310954	T	0.80480	-1.38	6.17	4.28	0.50868	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.282676	0.29814	N	0.011134	T	0.61198	0.2328	N	0.16066	0.365	0.28674	N	0.905494	B	0.06786	0.001	B	0.09377	0.004	T	0.45411	-0.9263	10	0.07325	T	0.83	.	10.4823	0.44700	0.1904:0.383:0.4266:0.0	.	595	Q6ZQN7	SO4C1_HUMAN	A	595	ENSP00000309741:G595A	ENSP00000309741:G595A	G	-	2	0	SLCO4C1	101610882	0.853000	0.29707	1.000000	0.80357	0.283000	0.27025	0.693000	0.25497	1.593000	0.50029	0.655000	0.94253	GGT		PASS	0.378	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		15	45	15	45	---	---	---	---
SLCO4C1	353189	broad.mit.edu	37	5	101627153	101627153	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:101627153C>T	ENST00000310954.6	-	2	799	c.513G>A	c.(511-513)aaG>aaA	p.K171K		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.K171K(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCCATCTCGGCTTATGTCCTC	0.388																																						uc003knm.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4						c.(511-513)AAG>AAA		solute carrier organic anion transporter family,							73.0	69.0	70.0					5																	101627153		2203	4300	6503	SO:0001819	synonymous_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101627153C>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.513G>A	5.37:g.101627153C>T							p.K171K	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	2	800	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	171			Cytoplasmic (Potential).			Silent	SNP	ENST00000310954.6	37	c.513G>A	CCDS34205.1																																																																																				PASS	0.388	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		10	33	10	33	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113740526	113740526	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:113740526C>G	ENST00000512097.3	+	4	1992	c.974C>G	c.(973-975)gCc>gGc	p.A325G	KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Missense_Mutation_p.A325G			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	325					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.A325G(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	TGGATAATTGCCGCATGGACT	0.323																																						uc003kqo.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(973-975)GCC>GGC		small conductance calcium-activated potassium							134.0	134.0	134.0					5																	113740526		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113740526C>G	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.974C>G	5.37:g.113740526C>G	ENSP00000427120:p.Ala325Gly						p.A325G	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	3	1431	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	325			Helical; Name=Segment S5; (Potential).		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.974C>G	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111168	0.77210	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	T;T	0.19532	2.14;2.14	5.54	5.54	0.83059	Ion transport 2 (1);	0.048506	0.85682	D	0.000000	T	0.38268	0.1034	L	0.45137	1.4	0.80722	D	1	P	0.49253	0.921	P	0.59012	0.85	T	0.06006	-1.0851	10	0.87932	D	0	-5.1533	19.0766	0.93165	0.0:1.0:0.0:0.0	.	325	Q9H2S1	KCNN2_HUMAN	G	325	ENSP00000427120:A325G;ENSP00000264773:A325G	ENSP00000264773:A325G	A	+	2	0	KCNN2	113768425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.726000	0.84824	2.616000	0.88540	0.491000	0.48974	GCC		PASS	0.323	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		44	82	44	82	---	---	---	---
TRIM36	55521	broad.mit.edu	37	5	114462205	114462205	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:114462205T>C	ENST00000282369.3	-	10	2303	c.2182A>G	c.(2182-2184)Atg>Gtg	p.M728V	TRIM36_ENST00000514154.1_Missense_Mutation_p.M573V|TRIM36_ENST00000513154.1_Missense_Mutation_p.M716V	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	728					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M728V(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTCAACTACATGTCCTCTTGG	0.398																																						uc003kqs.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|breast(2)	8						c.(2182-2184)ATG>GTG		tripartite motif-containing 36 isoform 1							89.0	82.0	84.0					5																	114462205		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114462205T>C	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.2182A>G	5.37:g.114462205T>C	ENSP00000282369:p.Met728Val					TRIM36_uc011cwc.1_Missense_Mutation_p.M716V|TRIM36_uc003kqt.2_Missense_Mutation_p.M573V	p.M728V	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	10	2691	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	728					A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.2182A>G	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	T	2.111	-0.403706	0.04832	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.61742	0.76;0.88;0.08	5.52	-2.92	0.05615	.	0.660669	0.15995	N	0.234604	T	0.18964	0.0455	N	0.02011	-0.69	0.30630	N	0.757611	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22521	-1.0214	10	0.11485	T	0.65	.	2.201	0.03923	0.099:0.2621:0.1937:0.4453	.	716;728	E9PFI8;Q9NQ86	.;TRI36_HUMAN	V	728;716;573	ENSP00000282369:M728V;ENSP00000423934:M716V;ENSP00000424259:M573V	ENSP00000282369:M728V	M	-	1	0	TRIM36	114490104	0.001000	0.12720	0.097000	0.21041	0.511000	0.34104	-0.353000	0.07691	-0.118000	0.11851	0.533000	0.62120	ATG		PASS	0.398	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		14	19	14	19	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118479539	118479539	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:118479539T>A	ENST00000311085.8	+	14	2460	c.2380T>A	c.(2380-2382)Tat>Aat	p.Y794N	DMXL1_ENST00000539542.1_Missense_Mutation_p.Y794N	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	794								p.Y794N(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		aaaaCAGAAATATGTTGGTGA	0.264																																						uc003ksd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2380-2382)TAT>AAT		Dmx-like 1							74.0	80.0	78.0					5																	118479539		2200	4298	6498	SO:0001583	missense	1657							g.chr5:118479539T>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.2380T>A	5.37:g.118479539T>A	ENSP00000309690:p.Tyr794Asn					DMXL1_uc010jcl.1_Missense_Mutation_p.Y794N	p.Y794N	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	14	2561	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	794						Missense_Mutation	SNP	ENST00000311085.8	37	c.2380T>A	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.216119	0.39201	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.35236	1.32;1.32	5.41	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	M	0.62723	1.935	0.54753	D	0.999987	B;B	0.13594	0.008;0.001	B;B	0.18263	0.021;0.004	T	0.09357	-1.0678	10	0.24483	T	0.36	-7.6812	11.0241	0.47734	0.0:0.0733:0.0:0.9267	.	794;794	F5H269;Q9Y485	.;DMXL1_HUMAN	N	794	ENSP00000309690:Y794N;ENSP00000439479:Y794N	ENSP00000309690:Y794N	Y	+	1	0	DMXL1	118507438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.810000	0.69179	0.892000	0.36259	0.528000	0.53228	TAT		PASS	0.264	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		41	71	41	71	---	---	---	---
PRR16	51334	broad.mit.edu	37	5	120021726	120021726	+	Silent	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:120021726G>T	ENST00000407149.2	+	2	446	c.237G>T	c.(235-237)acG>acT	p.T79T	PRR16_ENST00000379551.2_Silent_p.T56T|PRR16_ENST00000505123.1_Silent_p.T9T|PRR16_ENST00000446965.1_Silent_p.T9T			Q569H4	LARGN_HUMAN	proline rich 16	79					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.T56T(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)		AAACGGACACGCTGAATAGTA	0.507																																						uc003ksq.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(235-237)ACG>ACT		proline rich 16							112.0	102.0	105.0					5																	120021726		2203	4300	6503	SO:0001819	synonymous_variant	51334							g.chr5:120021726G>T	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.237G>T	5.37:g.120021726G>T						PRR16_uc003ksp.2_Silent_p.T56T|PRR16_uc003ksr.2_Silent_p.T9T	p.T79T	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	400	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	79					D3DSZ0|Q8IXY1|Q9NYI5	Silent	SNP	ENST00000407149.2	37	c.237G>T																																																																																					PASS	0.507	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		23	61	23	61	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127863628	127863628	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:127863628C>A	ENST00000508053.1	-	10	1443	c.469G>T	c.(469-471)Ggg>Tgg	p.G157W	FBN2_ENST00000508989.1_Missense_Mutation_p.G124W|FBN2_ENST00000262464.4_Missense_Mutation_p.G157W			P35556	FBN2_HUMAN	fibrillin 2	157	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G157W(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCACAGGTCCCACCATTCATG	0.373																																						uc003kuu.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(469-471)GGG>TGG		fibrillin 2 precursor							94.0	88.0	90.0					5																	127863628		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127863628C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.469G>T	5.37:g.127863628C>A	ENSP00000424571:p.Gly157Trp					FBN2_uc003kuv.2_Missense_Mutation_p.G124W|FBN2_uc003kuw.3_Missense_Mutation_p.G157W|FBN2_uc003kux.1_Missense_Mutation_p.G157W	p.G157W	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	4	908	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	157			EGF-like 2.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.469G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326288	0.81580	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;D	0.90133	-2.25;-2.25;-2.62;-2.1	4.06	4.06	0.47325	Epidermal growth factor-like (1);	0.073435	0.52532	D	0.000062	D	0.96534	0.8869	H	0.95004	3.61	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	0.97475	1.0043	10	0.87932	D	0	.	16.2124	0.82170	0.0:1.0:0.0:0.0	.	124;157;124;157	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	W	157;157;124;157	ENSP00000262464:G157W;ENSP00000424571:G157W;ENSP00000425596:G124W;ENSP00000424753:G157W	ENSP00000262464:G157W	G	-	1	0	FBN2	127891527	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	7.313000	0.78978	2.562000	0.86427	0.655000	0.94253	GGG		PASS	0.373	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		24	45	24	45	---	---	---	---
UBE2D2	7322	broad.mit.edu	37	5	138994297	138994297	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:138994297C>G	ENST00000398733.3	+	4	762	c.136C>G	c.(136-138)Cag>Gag	p.Q46E	UBE2D2_ENST00000253815.2_Missense_Mutation_p.Q17E|UBE2D2_ENST00000505548.1_Missense_Mutation_p.Q17E|UBE2D2_ENST00000511725.1_Missense_Mutation_p.Q17E	NM_003339.2	NP_003330.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2	46					cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.Q46E(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAGTCCCTATCAGGGTGGAGT	0.338																																						uc003ler.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(136-138)CAG>GAG		ubiquitin-conjugating enzyme E2D 2 isoform 1							104.0	98.0	100.0					5																	138994297		1891	4146	6037	SO:0001583	missense	7322				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr5:138994297C>G	L40146	CCDS43369.1, CCDS47275.1	5q31.2	2013-10-18	2011-05-19		ENSG00000131508	ENSG00000131508		"""Ubiquitin-conjugating enzymes E2"""	12475	protein-coding gene	gene with protein product		602962	"""ubiquitin-conjugating enzyme E2D 2 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181838		Approved	UbcH5B, UBC4	uc003ler.3	P62837	OTTHUMG00000163282	ENST00000398733.3:c.136C>G	5.37:g.138994297C>G	ENSP00000381717:p.Gln46Glu					UBE2D2_uc003leq.2_Missense_Mutation_p.Q17E	p.Q46E	NM_003339	NP_003330	P62837	UB2D2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		4	762	+			46					D3DQC9|P51669|Q3MN78|Q96RP6	Missense_Mutation	SNP	ENST00000398733.3	37	c.136C>G	CCDS43369.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762126	0.69763	.	.	ENSG00000131508	ENST00000511725;ENST00000398733;ENST00000253815;ENST00000505007;ENST00000398734;ENST00000505548	T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.9	5.9	0.94986	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.099234	0.64402	D	0.000001	T	0.34542	0.0901	N	0.00265	-1.74	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.44498	-0.9324	10	0.18276	T	0.48	.	20.2821	0.98520	0.0:1.0:0.0:0.0	.	46	P62837	UB2D2_HUMAN	E	17;46;17;17;46;17	ENSP00000429613:Q17E;ENSP00000381717:Q46E;ENSP00000253815:Q17E;ENSP00000426523:Q17E;ENSP00000381718:Q46E;ENSP00000424941:Q17E	ENSP00000253815:Q17E	Q	+	1	0	UBE2D2	138974481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.786000	0.95864	0.563000	0.77884	CAG		PASS	0.338	UBE2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372454.3	NM_181838		28	57	28	57	---	---	---	---
PCDHA7	56141	broad.mit.edu	37	5	140215250	140215250	+	Missense_Mutation	SNP	C	C	T	rs566217489		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:140215250C>T	ENST00000525929.1	+	1	1282	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R428W|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	428	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R428W(6)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTACCGCGCGGGACGGGGG	0.617																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			6	Substitution - Missense(6)		lung(4)|urinary_tract(2)	ovary(2)|skin(2)	4						c.(1282-1284)CGG>TGG		protocadherin alpha 7 isoform 1 precursor							94.0	98.0	97.0					5																	140215250		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215250C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1282C>T	5.37:g.140215250C>T	ENSP00000436426:p.Arg428Trp					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R428W	p.R428W	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1282	+			428			Cadherin 4.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1282C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	5.766	0.325666	0.10900	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01804	4.63;4.63	4.04	-2.34	0.06704	Cadherin (5);Cadherin-like (1);	0.000000	0.29417	U	0.012219	T	0.02494	0.0076	L	0.31845	0.965	0.09310	N	1	P;P	0.43885	0.631;0.82	B;P	0.49276	0.136;0.605	T	0.33650	-0.9860	10	0.66056	D	0.02	.	10.9804	0.47490	0.5789:0.3132:0.1079:0.0	.	428;428	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	W	428	ENSP00000436426:R428W;ENSP00000367365:R428W	ENSP00000367365:R428W	R	+	1	2	PCDHA7	140195434	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-0.979000	0.03774	-0.350000	0.08262	0.305000	0.20034	CGG		PASS	0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		47	88	47	88	---	---	---	---
PCDHA7	56141	broad.mit.edu	37	5	140216091	140216091	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:140216091C>G	ENST00000525929.1	+	1	2123	c.2123C>G	c.(2122-2124)tCc>tGc	p.S708C	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.S708C|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	708					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S708C(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGGTGTCCAGTCTGTTG	0.612																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(2122-2124)TCC>TGC		protocadherin alpha 7 isoform 1 precursor							121.0	101.0	108.0					5																	140216091		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140216091C>G	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.2123C>G	5.37:g.140216091C>G	ENSP00000436426:p.Ser708Cys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.S708C	p.S708C	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2123	+			708			Helical; (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.2123C>G	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163629	0.38217	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.22134	1.97;1.97	3.57	0.516	0.17019	.	0.690535	0.10673	U	0.647289	T	0.55737	0.1939	H	0.96398	3.815	0.22989	N	0.998461	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.41161	-0.9524	10	0.87932	D	0	.	8.2754	0.31868	0.0:0.6208:0.294:0.0852	.	708;708	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	C	708	ENSP00000436426:S708C;ENSP00000367365:S708C	ENSP00000367365:S708C	S	+	2	0	PCDHA7	140196275	0.110000	0.22057	0.960000	0.40013	0.255000	0.26057	1.765000	0.38481	-0.031000	0.13781	0.462000	0.41574	TCC		PASS	0.612	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		17	46	17	46	---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140250819	140250819	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:140250819G>C	ENST00000398640.2	+	1	2131	c.2131G>C	c.(2131-2133)Gta>Cta	p.V711L	PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	711					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V711L(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCCTCCTGGTACTCACGCT	0.682																																						uc003lia.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(2131-2133)GTA>CTA		protocadherin alpha 11 isoform 1 precursor							42.0	43.0	43.0					5																	140250819		2203	4300	6503	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140250819G>C	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.2131G>C	5.37:g.140250819G>C	ENSP00000381636:p.Val711Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.V711L	p.V711L	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2989	+			711			Helical; (Potential).		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.2131G>C	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	6.671	0.492387	0.12702	.	.	ENSG00000249158	ENST00000398640	T	0.16743	2.32	4.75	4.75	0.60458	.	.	.	.	.	T	0.17619	0.0423	M	0.66939	2.045	0.24104	N	0.995866	B;P	0.34684	0.127;0.463	B;B	0.34536	0.185;0.147	T	0.30387	-0.9980	9	0.02654	T	1	.	12.8364	0.57775	0.0:0.2993:0.7007:0.0	.	711;711	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	L	711	ENSP00000381636:V711L	ENSP00000381636:V711L	V	+	1	0	PCDHA11	140231003	.	.	1.000000	0.80357	0.420000	0.31355	.	.	2.176000	0.68965	0.655000	0.94253	GTA		PASS	0.682	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		14	27	14	27	---	---	---	---
PCDHAC2	56134	broad.mit.edu	37	5	140346559	140346559	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:140346559C>A	ENST00000289269.5	+	1	740	c.208C>A	c.(208-210)Cgg>Agg	p.R70R	PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	70	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R70R(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGAGCTGCGGCGCTTGGG	0.692																																					Melanoma(190;638 2083 3390 11909 52360)	uc003lii.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(208-210)CGG>AGG		protocadherin alpha subfamily C, 2 isoform 1							11.0	13.0	12.0					5																	140346559		2194	4286	6480	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140346559C>A	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.208C>A	5.37:g.140346559C>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Silent_p.R70R	p.R70R	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	448	+			70			Cadherin 1.|Extracellular (Potential).		Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	c.208C>A	CCDS4242.1																																																																																				PASS	0.692	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		5	11	5	11	---	---	---	---
PCDHB6	56130	broad.mit.edu	37	5	140530565	140530565	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:140530565C>G	ENST00000231136.1	+	1	727	c.727C>G	c.(727-729)Cag>Gag	p.Q243E	PCDHB6_ENST00000543635.1_Missense_Mutation_p.Q107E	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	243					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q243E(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGTTTGCTCAGGAGCTCTA	0.552																																						uc003lir.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(727-729)CAG>GAG		protocadherin beta 6 precursor							48.0	51.0	50.0					5																	140530565		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530565C>G	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.727C>G	5.37:g.140530565C>G	ENSP00000231136:p.Gln243Glu					PCDHB6_uc011dah.1_Missense_Mutation_p.Q107E	p.Q243E	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	727	+			243			Extracellular (Potential).		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.727C>G	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	c	10.31	1.315700	0.23908	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.01665	4.7;4.7	4.85	3.99	0.46301	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.02807	0.0084	L	0.54863	1.705	0.22888	N	0.998603	P	0.37548	0.599	B	0.32465	0.146	T	0.34775	-0.9815	9	0.66056	D	0.02	.	14.1099	0.65115	0.0:0.7131:0.2869:0.0	.	243	Q9Y5E3	PCDB6_HUMAN	E	107;243;28	ENSP00000438466:Q107E;ENSP00000231136:Q243E	ENSP00000231136:Q243E	Q	+	1	0	PCDHB6	140510749	0.001000	0.12720	0.962000	0.40283	0.485000	0.33311	0.976000	0.29462	1.178000	0.42870	-0.217000	0.12591	CAG		PASS	0.552	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		7	17	7	17	---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140559017	140559017	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:140559017G>A	ENST00000239444.2	+	1	1647	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	468	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A468T(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACAGCCCCGCCCTGCACAT	0.637																																						uc011dai.1																			1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(1402-1404)GCC>ACC		protocadherin beta 8 precursor							86.0	131.0	116.0					5																	140559017		2202	4277	6479	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559017G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1402G>A	5.37:g.140559017G>A	ENSP00000239444:p.Ala468Thr					PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.A468T	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1588	+			468			Cadherin 5.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1402G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605989	0.87157	.	.	ENSG00000120322	ENST00000239444	T	0.60548	0.18	4.26	4.26	0.50523	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.68906	0.3052	L	0.52011	1.625	0.34493	D	0.705162	D	0.89917	1.0	D	0.83275	0.996	T	0.77824	-0.2444	9	0.87932	D	0	.	11.3609	0.49642	0.0922:0.0:0.9078:0.0	.	468	Q9UN66	PCDB8_HUMAN	T	468	ENSP00000239444:A468T	ENSP00000239444:A468T	A	+	1	0	PCDHB8	140539201	0.008000	0.16893	1.000000	0.80357	0.941000	0.58515	1.106000	0.31098	1.920000	0.55613	0.305000	0.20034	GCC		PASS	0.637	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		34	241	34	241	---	---	---	---
PCDHB11	56125	broad.mit.edu	37	5	140581299	140581299	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:140581299C>T	ENST00000354757.3	+	1	1952	c.1952C>T	c.(1951-1953)cCg>cTg	p.P651L	PCDHB11_ENST00000536699.1_Missense_Mutation_p.P286L	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	651	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P651L(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGCCTCCGCGCTCGGCC	0.721																																						uc003liy.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1951-1953)CCG>CTG		protocadherin beta 11 precursor							15.0	17.0	16.0					5																	140581299		2004	4007	6011	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140581299C>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1952C>T	5.37:g.140581299C>T	ENSP00000346802:p.Pro651Leu					PCDHB11_uc011daj.1_Missense_Mutation_p.P286L	p.P651L	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1952	+			651			Extracellular (Potential).|Cadherin 6.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.1952C>T	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	c	14.11	2.437186	0.43224	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.56941	0.43;0.43	2.77	2.77	0.32553	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.62527	0.2435	M	0.92026	3.265	0.19300	N	0.999979	P	0.44627	0.839	B	0.41723	0.365	T	0.61821	-0.6984	9	0.62326	D	0.03	.	12.5665	0.56312	0.0:1.0:0.0:0.0	.	651	Q9Y5F2	PCDBB_HUMAN	L	286;651	ENSP00000440344:P286L;ENSP00000346802:P651L	ENSP00000346802:P651L	P	+	2	0	PCDHB11	140561483	0.078000	0.21339	0.095000	0.20976	0.536000	0.34869	3.656000	0.54467	1.554000	0.49487	0.549000	0.68633	CCG		PASS	0.721	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		7	36	7	36	---	---	---	---
PCDHGA4	56111	broad.mit.edu	37	5	140736526	140736526	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:140736526C>T	ENST00000571252.1	+	1	1759	c.1759C>T	c.(1759-1761)Ctg>Ttg	p.L587L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	587	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCGGCTACCTGGTGACCAA	0.592																																						uc003ljq.1																			0					0						c.(1759-1761)CTG>TTG		protocadherin gamma subfamily A, 4 isoform 1							113.0	123.0	120.0					5																	140736526		2201	4299	6500	SO:0001819	synonymous_variant	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736526C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1759C>T	5.37:g.140736526C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.L587L	p.L587L	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1759	+			587			Extracellular (Potential).|Cadherin 6.		Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.1759C>T	CCDS58979.1																																																																																				PASS	0.592	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		41	82	41	82	---	---	---	---
PCDHGA5	56110	broad.mit.edu	37	5	140745690	140745690	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:140745690C>T	ENST00000518069.1	+	1	1793	c.1793C>T	c.(1792-1794)tCa>tTa	p.S598L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	598	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S598L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAAAGATTCAGGCCAGAAC	0.672																																						uc003lju.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1792-1794)TCA>TTA		protocadherin gamma subfamily A, 5 isoform 1							73.0	82.0	79.0					5																	140745690		2203	4300	6503	SO:0001583	missense	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140745690C>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1793C>T	5.37:g.140745690C>T	ENSP00000429834:p.Ser598Leu					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_uc011das.1_Missense_Mutation_p.S598L	p.S598L	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1793	+			598			Cadherin 6.|Extracellular (Potential).		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.1793C>T	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	14.47	2.545671	0.45280	.	.	ENSG00000253485	ENST00000518069	T	0.49432	0.78	4.58	4.58	0.56647	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.70587	0.3241	M	0.85041	2.73	0.26550	N	0.973938	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.995	T	0.63976	-0.6515	9	0.87932	D	0	.	12.2713	0.54708	0.0:0.9137:0.0:0.0863	.	598;598	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	L	598	ENSP00000429834:S598L	ENSP00000429834:S598L	S	+	2	0	PCDHGA5	140725874	0.941000	0.31946	0.908000	0.35775	0.298000	0.27526	3.161000	0.50747	2.266000	0.75297	0.563000	0.77884	TCA		PASS	0.672	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		30	51	30	51	---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140772974	140772974	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:140772974C>T	ENST00000398604.2	+	1	594	c.594C>T	c.(592-594)cgC>cgT	p.R198R	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R198R(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGAGCGCGCCCTGGACA	0.632																																						uc003lkd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(592-594)CGC>CGT		protocadherin gamma subfamily A, 8 isoform 1							43.0	50.0	47.0					5																	140772974		2175	4297	6472	SO:0001819	synonymous_variant	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140772974C>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.594C>T	5.37:g.140772974C>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_uc003lkb.3_Silent_p.R198R	p.R198R	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1492	+			198			Extracellular (Potential).|Cadherin 2.		A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.594C>T	CCDS47291.1																																																																																				PASS	0.632	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		14	36	14	36	---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140774332	140774332	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:140774332A>T	ENST00000398604.2	+	1	1952	c.1952A>T	c.(1951-1953)cAg>cTg	p.Q651L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	651	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q651L(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCATGGCCAGCCCCCTCTC	0.677																																						uc003lkd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1951-1953)CAG>CTG		protocadherin gamma subfamily A, 8 isoform 1							29.0	36.0	34.0					5																	140774332		2201	4295	6496	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140774332A>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1952A>T	5.37:g.140774332A>T	ENSP00000381605:p.Gln651Leu					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_uc003lkb.3_Missense_Mutation_p.Q651L	p.Q651L	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2850	+			651			Extracellular (Potential).|Cadherin 6.		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.1952A>T	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	19.33	3.807346	0.70797	.	.	ENSG00000253767	ENST00000398604	T	0.52057	0.68	4.99	4.99	0.66335	Cadherin (4);Cadherin-like (1);	0.320496	0.15934	U	0.237539	T	0.64681	0.2620	M	0.70108	2.13	0.25986	N	0.982305	D;D	0.63046	0.992;0.973	D;P	0.66497	0.944;0.726	T	0.58601	-0.7608	10	0.87932	D	0	.	10.5954	0.45333	0.8387:0.1613:0.0:0.0	.	651;651	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	L	651	ENSP00000381605:Q651L	ENSP00000381605:Q651L	Q	+	2	0	PCDHGA8	140754516	0.021000	0.18746	0.998000	0.56505	0.995000	0.86356	1.677000	0.37576	1.901000	0.55032	0.529000	0.55759	CAG		PASS	0.677	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		6	29	6	29	---	---	---	---
DPYSL3	1809	broad.mit.edu	37	5	146795384	146795384	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:146795384T>G	ENST00000398514.3	-	4	737	c.366A>C	c.(364-366)aaA>aaC	p.K122N	DPYSL3_ENST00000343218.5_Missense_Mutation_p.K236N|DPYSL3_ENST00000534907.1_Intron	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	122					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)	p.K122N(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTCTCCATTTCTCATAGG	0.537																																						uc003lon.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(364-366)AAA>AAC		dihydropyrimidinase-like 3							207.0	205.0	206.0					5																	146795384		2099	4232	6331	SO:0001583	missense	1809				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	g.chr5:146795384T>G	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.366A>C	5.37:g.146795384T>G	ENSP00000381526:p.Lys122Asn					DPYSL3_uc003loo.2_Missense_Mutation_p.K236N	p.K122N	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	476	-			122					B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	c.366A>C	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.886112	0.51908	.	.	ENSG00000113657	ENST00000398514;ENST00000343218	D;D	0.90197	-2.63;-2.63	6.03	3.22	0.36961	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.219768	0.47093	D	0.000241	D	0.88343	0.6411	L	0.38733	1.17	0.80722	D	1	B;B	0.33073	0.396;0.055	B;B	0.44108	0.441;0.022	D	0.86546	0.1831	10	0.66056	D	0.02	-13.7144	9.9447	0.41602	0.0:0.7462:0.0:0.2538	.	236;122	B3SXQ8;Q14195	.;DPYL3_HUMAN	N	122;236	ENSP00000381526:K122N;ENSP00000343690:K236N	ENSP00000343690:K236N	K	-	3	2	DPYSL3	146775577	0.993000	0.37304	1.000000	0.80357	0.966000	0.64601	0.426000	0.21363	0.882000	0.36016	-0.904000	0.02843	AAA		PASS	0.537	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		41	105	41	105	---	---	---	---
ZNF300	91975	broad.mit.edu	37	5	150275503	150275503	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:150275503C>A	ENST00000274599.5	-	6	1718	c.1298G>T	c.(1297-1299)gGt>gTt	p.G433V	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.G397V|ZNF300_ENST00000394226.2_Missense_Mutation_p.G433V|ZNF300_ENST00000446148.2_Missense_Mutation_p.G449V	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	433					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.G433V(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTTTCTCACCAGTGTGAAT	0.433																																						uc003lsy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1297-1299)GGT>GTT		zinc finger protein 300							61.0	58.0	59.0					5																	150275503		2203	4300	6503	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150275503C>A	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.1298G>T	5.37:g.150275503C>A	ENSP00000274599:p.Gly433Val					IRGM_uc011dcl.1_Intron	p.G433V	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1565	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	433					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.1298G>T	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863815	0.71949	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	3.73	3.73	0.42828	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51398	0.1672	M	0.81614	2.55	0.58432	D	0.999998	D	0.89917	1.0	D	0.76071	0.987	T	0.59134	-0.7511	9	0.87932	D	0	.	13.3958	0.60851	0.0:1.0:0.0:0.0	.	433	Q96RE9	ZN300_HUMAN	V	449;433;397;433	ENSP00000397178:G449V;ENSP00000274599:G433V;ENSP00000392593:G397V;ENSP00000377773:G433V	ENSP00000274599:G433V	G	-	2	0	ZNF300	150255696	0.332000	0.24722	0.997000	0.53966	0.993000	0.82548	1.542000	0.36137	2.088000	0.63022	0.591000	0.81541	GGT		PASS	0.433	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		13	42	13	42	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150911198	150911198	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:150911198C>A	ENST00000261800.5	-	13	9773	c.9761G>T	c.(9760-9762)cGc>cTc	p.R3254L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3254	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R3254H(1)|p.R3254L(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGACCACGCGGTAGCCGGT	0.672																																						uc003lue.3																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(9760-9762)CGC>CTC		FAT tumor suppressor 2 precursor							32.0	28.0	29.0					5																	150911198		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150911198C>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9761G>T	5.37:g.150911198C>A	ENSP00000261800:p.Arg3254Leu					GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_5'UTR	p.R3254L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	9774	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3254			Extracellular (Potential).|Cadherin 29.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.9761G>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	9.687	1.150955	0.21371	.	.	ENSG00000086570	ENST00000261800	T	0.52295	0.67	5.21	3.04	0.35103	Cadherin (4);Cadherin-like (1);	0.697244	0.12889	N	0.430811	T	0.39172	0.1068	L	0.38692	1.165	0.09310	N	1	P	0.47484	0.896	P	0.48552	0.581	T	0.11567	-1.0582	10	0.13470	T	0.59	.	5.9105	0.19025	0.0:0.568:0.0:0.432	.	3254	Q9NYQ8	FAT2_HUMAN	L	3254	ENSP00000261800:R3254L	ENSP00000261800:R3254L	R	-	2	0	FAT2	150891391	0.238000	0.23825	0.550000	0.28217	0.076000	0.17211	0.654000	0.24918	1.173000	0.42796	0.555000	0.69702	CGC		PASS	0.672	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		8	18	8	18	---	---	---	---
KIF4B	285643	broad.mit.edu	37	5	154396295	154396295	+	Missense_Mutation	SNP	T	T	C	rs148448511	byFrequency	TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:154396295T>C	ENST00000435029.4	+	1	3036	c.2876T>C	c.(2875-2877)cTg>cCg	p.L959P		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	959	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.L959P(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAACAACAGCTGGTGAGCACA	0.473													T|||	7	0.00139776	0.0045	0.0014	5008	,	,		22551	0.0		0.0	False		,,,				2504	0.0					uc010jih.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2875-2877)CTG>CCG		kinesin family member 4B		T	PRO/LEU	48,4358	49.6+/-84.7	1,46,2156	118.0	113.0	115.0		2876	0.6	0.0	5	dbSNP_134	115	0,8600		0,0,4300	yes	missense	KIF4B	NM_001099293.1	98	1,46,6456	CC,CT,TT		0.0,1.0894,0.3691	probably-damaging	959/1235	154396295	48,12958	2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396295T>C	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2876T>C	5.37:g.154396295T>C	ENSP00000387875:p.Leu959Pro						p.L959P	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3036	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	959			Interaction with PRC1 (By similarity).|Potential.			Missense_Mutation	SNP	ENST00000435029.4	37	c.2876T>C	CCDS47324.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	t	0.090	-1.169404	0.01660	0.010894	0.0	ENSG00000226650	ENST00000435029	T	0.71817	-0.6	1.76	0.56	0.17279	.	.	.	.	.	T	0.53142	0.1778	M	0.63843	1.955	0.44142	D	0.996938	B	0.12630	0.006	B	0.17979	0.02	T	0.54050	-0.8351	9	0.56958	D	0.05	.	3.4602	0.07529	0.0:0.226:0.0:0.774	.	959	Q2VIQ3	KIF4B_HUMAN	P	959	ENSP00000387875:L959P	ENSP00000387875:L959P	L	+	2	0	KIF4B	154376488	0.623000	0.27094	0.043000	0.18650	0.089000	0.18198	0.604000	0.24164	0.153000	0.19213	0.455000	0.32223	CTG		PASS	0.473	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			14	51	14	51	---	---	---	---
SGCD	6444	broad.mit.edu	37	5	155935659	155935659	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:155935659G>A	ENST00000435422.3	+	3	725	c.238G>A	c.(238-240)Gga>Aga	p.G80R	SGCD_ENST00000447401.1_Missense_Mutation_p.G81R|SGCD_ENST00000517913.1_Missense_Mutation_p.G81R|SGCD_ENST00000337851.4_Missense_Mutation_p.G81R	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	80					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.G81R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAAGCTAGAAGGAGACTCTGA	0.403																																						uc003lwd.3																			1	Substitution - Missense(1)		lung(1)		0						c.(238-240)GGA>AGA		delta-sarcoglycan isoform 3							112.0	100.0	103.0					5																	155935659		1850	4105	5955	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:155935659G>A	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.238G>A	5.37:g.155935659G>A	ENSP00000403003:p.Gly80Arg					SGCD_uc003lwa.1_Missense_Mutation_p.G81R|SGCD_uc003lwb.2_Missense_Mutation_p.G81R|SGCD_uc003lwc.3_Missense_Mutation_p.G81R	p.G80R	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	714	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	80			Extracellular (Potential).		A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.238G>A	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074535	0.94000	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.97732	0.9256	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.98254	1.0495	10	0.87932	D	0	-11.0667	17.9142	0.88944	0.0:0.0:1.0:0.0	.	80;81;81	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	R	81;80;81;81	ENSP00000429378:G81R;ENSP00000403003:G80R;ENSP00000338343:G81R;ENSP00000408324:G81R	ENSP00000338343:G81R	G	+	1	0	SGCD	155868237	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.338000	0.96553	2.732000	0.93576	0.585000	0.79938	GGA		PASS	0.403	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			18	25	18	25	---	---	---	---
HAVCR1	26762	broad.mit.edu	37	5	156456809	156456809	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:156456809C>A	ENST00000339252.3	-	8	1562	c.1030G>T	c.(1030-1032)Gtt>Ttt	p.V344F	HAVCR1_ENST00000522693.1_Missense_Mutation_p.Q332H|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000544197.1_Missense_Mutation_p.V344F|HAVCR1_ENST00000425854.1_Missense_Mutation_p.Q332H|HAVCR1_ENST00000523175.1_Missense_Mutation_p.V344F	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	339					viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)	p.V344F(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCTTTTCAACTGCATTTTGC	0.388																																						uc010jij.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1030-1032)GTT>TTT		hepatitis A virus cellular receptor 1							141.0	121.0	127.0					5																	156456809		1856	4092	5948	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156456809C>A	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.1030G>T	5.37:g.156456809C>A	ENSP00000344844:p.Val344Phe					HAVCR1_uc011ddl.1_Missense_Mutation_p.Q163H|HAVCR1_uc003lwi.2_Missense_Mutation_p.V344F	p.V344F	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		9	1215	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	339			Cytoplasmic (Potential).		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.1030G>T	CCDS43392.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.28|10.28	1.307561|1.307561	0.23821|0.23821	.|.	.|.	ENSG00000113249|ENSG00000113249	ENST00000522693;ENST00000425854|ENST00000523175;ENST00000339252;ENST00000544197	T;T|T;T;T	0.15487|0.16897	2.42;2.42|2.31;2.31;2.31	3.72|3.72	-1.76|-1.76	0.08006|0.08006	.|.	.|2.078930	.|0.02187	.|N	.|0.061041	T|T	0.13500|0.13500	0.0327|0.0327	L|L	0.39898|0.39898	1.24|1.24	0.09310|0.09310	N|N	1|1	P|B;B	0.34724|0.20368	0.465|0.044;0.044	B|B;B	0.32211|0.16722	0.142|0.016;0.016	T|T	0.31447|0.31447	-0.9943|-0.9943	9|10	0.62326|0.72032	D|D	0.03|0.01	.|.	0.5934|0.5934	0.00731|0.00731	0.1739:0.3029:0.1702:0.353|0.1739:0.3029:0.1702:0.353	.|.	332|339;339	E9PFX0|F1CME6;Q96D42	.|.;HAVR1_HUMAN	H|F	332|344	ENSP00000428524:Q332H;ENSP00000403333:Q332H|ENSP00000427898:V344F;ENSP00000344844:V344F;ENSP00000440258:V344F	ENSP00000403333:Q332H|ENSP00000344844:V344F	Q|V	-|-	3|1	2|0	HAVCR1|HAVCR1	156389387|156389387	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-1.123000|-1.123000	0.03263|0.03263	-0.403000|-0.403000	0.07622|0.07622	0.655000|0.655000	0.94253|0.94253	CAG|GTT		PASS	0.388	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			11	25	11	25	---	---	---	---
GABRG2	2566	broad.mit.edu	37	5	161576271	161576271	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:161576271C>T	ENST00000361925.4	+	8	1300	c.1080C>T	c.(1078-1080)gtC>gtT	p.V360V	GABRG2_ENST00000414552.2_Silent_p.V400V|GABRG2_ENST00000356592.3_Silent_p.V360V|GABRG2_ENST00000393933.4_Silent_p.V265V			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	360					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|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.V360V(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|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)	ATTATTTTGTCAGCAACCGGA	0.393																																						uc003lyz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(1078-1080)GTC>GTT		gamma-aminobutyric acid A receptor, gamma 2							178.0	151.0	160.0					5																	161576271		2203	4300	6503	SO:0001819	synonymous_variant	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161576271C>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1080C>T	5.37:g.161576271C>T						GABRG2_uc010jjc.2_Silent_p.V400V|GABRG2_uc003lyy.3_Silent_p.V360V|GABRG2_uc011dej.1_Silent_p.V265V	p.V360V	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	8	1438	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	360			Cytoplasmic (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	c.1080C>T	CCDS4358.1																																																																																				PASS	0.393	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			23	52	23	52	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169127139	169127139	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:169127139G>T	ENST00000256935.8	+	13	1334	c.1254G>T	c.(1252-1254)atG>atT	p.M418I		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	418					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.M418I(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATCATCATGCCAGGTGAGA	0.517																																						uc003maf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(1252-1254)ATG>ATT		dedicator of cytokinesis 2							130.0	121.0	124.0					5																	169127139		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169127139G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1254G>T	5.37:g.169127139G>T	ENSP00000256935:p.Met418Ile					DOCK2_uc011der.1_RNA|DOCK2_uc010jjl.1_5'Flank	p.M418I	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	1334	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	418					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.1254G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888490	0.91814	.	.	ENSG00000134516	ENST00000256935	T	0.12569	2.67	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	M	0.77486	2.375	0.80722	D	1	B	0.16802	0.019	B	0.24848	0.056	T	0.02574	-1.1139	10	0.46703	T	0.11	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	418	Q92608	DOCK2_HUMAN	I	418	ENSP00000256935:M418I	ENSP00000256935:M418I	M	+	3	0	DOCK2	169059717	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.574000	0.98184	2.782000	0.95742	0.655000	0.94253	ATG		PASS	0.517	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		37	89	37	89	---	---	---	---
SIMC1	375484	broad.mit.edu	37	5	175749343	175749343	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:175749343C>A	ENST00000443967.1	+	8	2307	c.1900C>A	c.(1900-1902)Caa>Aaa	p.Q634K	SIMC1_ENST00000430704.2_Missense_Mutation_p.Q219K|SIMC1_ENST00000332772.4_Missense_Mutation_p.Q95K|SIMC1_ENST00000341199.6_Missense_Mutation_p.Q219K			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	634							SUMO polymer binding (GO:0032184)	p.Q634K(1)									AAATGGAAATCAAACGTCTTC	0.458																																						uc003mds.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1900-1902)CAA>AAA		RecName: Full=Uncharacterized protein C5orf25;							65.0	59.0	61.0					5																	175749343		2203	4300	6503	SO:0001583	missense	375484							g.chr5:175749343C>A	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1900C>A	5.37:g.175749343C>A	ENSP00000406571:p.Gln634Lys					C5orf25_uc003mdt.3_Missense_Mutation_p.Q219K|C5orf25_uc003mdr.3_RNA|C5orf25_uc003mdv.2_Missense_Mutation_p.Q95K	p.Q634K			Q8NDZ2	CE025_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)	8	2307	+	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	634					J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37	c.1900C>A		.	.	.	.	.	.	.	.	.	.	C	8.133	0.783515	0.16189	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.31769	1.89;1.89;2.16;1.48	4.66	4.66	0.58398	.	0.611008	0.15844	N	0.241865	T	0.24005	0.0581	L	0.43152	1.355	0.22656	N	0.998889	B;B;P	0.38504	0.152;0.065;0.634	B;B;B	0.30495	0.036;0.04;0.116	T	0.22871	-1.0204	10	0.66056	D	0.02	-6.8195	10.8987	0.47038	0.0:0.81:0.19:0.0	.	95;219;634	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	K	219;219;634;95	ENSP00000342075:Q219K;ENSP00000409287:Q219K;ENSP00000406571:Q634K;ENSP00000331311:Q95K	ENSP00000331311:Q95K	Q	+	1	0	C5orf25	175681949	0.059000	0.20769	0.096000	0.21009	0.081000	0.17604	1.305000	0.33493	2.417000	0.82017	0.467000	0.42956	CAA		PASS	0.458	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		5	10	5	10	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176638020	176638020	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:176638020G>T	ENST00000439151.2	+	5	2665	c.2620G>T	c.(2620-2622)Gag>Tag	p.E874*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.E605*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E771*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E605*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	874					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E874*(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATCCTTAGGTGAGGATGTCAG	0.393			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		2	Substitution - Nonsense(2)		lung(2)	ovary(2)|kidney(1)	3						c.(2620-2622)GAG>TAG		nuclear receptor binding SET domain protein 1							146.0	139.0	141.0					5																	176638020		2203	4300	6503	SO:0001587	stop_gained	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638020G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2620G>T	5.37:g.176638020G>T	ENSP00000395929:p.Glu874*	HNSCC(47;0.14)				NSD1_uc003mft.3_Nonsense_Mutation_p.E605*|NSD1_uc003mfs.1_Nonsense_Mutation_p.E771*|NSD1_uc011dfx.1_Nonsense_Mutation_p.E522*	p.E874*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	2758	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	874					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.2620G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	37	6.555624	0.97658	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.59	4.66	0.58398	.	0.200177	0.34906	N	0.003581	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.937	0.79720	0.0:0.1351:0.8649:0.0	.	.	.	.	X	605;874;605;771	.	.	E	+	1	0	NSD1	176570626	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.225000	0.58600	2.783000	0.95769	0.655000	0.94253	GAG		PASS	0.393	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		59	22	59	22	---	---	---	---
MGAT4B	11282	broad.mit.edu	37	5	179227526	179227526	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:179227526G>C	ENST00000292591.7	-	6	1027	c.677C>G	c.(676-678)tCc>tGc	p.S226C	MGAT4B_ENST00000337755.5_Missense_Mutation_p.S241C|MIR1229_ENST00000408467.1_RNA|MGAT4B_ENST00000521305.1_5'UTR	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	226					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.S241C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCGGAGGCGGGAGAAGTCAGG	0.607																																					GBM(13;414 434 4098 22176 23230)	uc003mks.2																			1	Substitution - Missense(1)		lung(1)		0						c.(676-678)TCC>TGC		alpha-1,3-mannosyl-glycoprotein							19.0	23.0	22.0					5																	179227526		2203	4300	6503	SO:0001583	missense	11282				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:179227526G>C	AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	protein-coding gene	gene with protein product		604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.677C>G	5.37:g.179227526G>C	ENSP00000292591:p.Ser226Cys					MGAT4B_uc003mkp.2_Missense_Mutation_p.S81C|MGAT4B_uc003mkq.2_Missense_Mutation_p.S81C|MGAT4B_uc003mkr.2_Missense_Mutation_p.S241C|MIR1229_hsa-mir-1229|MI0006319_5'Flank	p.S226C	NM_014275	NP_055090	Q9UQ53	MGT4B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1046	-	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	226			Lumenal (Potential).		A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Missense_Mutation	SNP	ENST00000292591.7	37	c.677C>G	CCDS4448.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.43|19.43	3.826698|3.826698	0.71143|0.71143	.|.	.|.	ENSG00000161013|ENSG00000161013	ENST00000519836|ENST00000337755;ENST00000292591;ENST00000523108	.|T;T;T	.|0.47528	.|0.84;0.84;0.84	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	.|0.254550	.|0.40640	.|N	.|0.001059	T|T	0.68815|0.68815	0.3042|0.3042	M|M	0.78049|0.78049	2.395|2.395	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D;D	.|0.76494	.|0.968;0.999;0.985;0.982	.|P;D;P;P	.|0.65323	.|0.754;0.934;0.886;0.639	T|T	0.74463|0.74463	-0.3657|-0.3657	5|10	.|0.72032	.|D	.|0.01	-34.7367|-34.7367	17.8695|17.8695	0.88807|0.88807	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|226;241;81;226	.|Q9UQ53;A8MPR0;E5RFS3;Q9UQ53-2	.|MGT4B_HUMAN;.;.;.	A|C	174|241;226;81	.|ENSP00000338487:S241C;ENSP00000292591:S226C;ENSP00000427995:S81C	.|ENSP00000292591:S226C	P|S	-|-	1|2	0|0	MGAT4B|MGAT4B	179160132|179160132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	4.534000|4.534000	0.60622|0.60622	2.229000|2.229000	0.72834|0.72834	0.549000|0.549000	0.68633|0.68633	CCC|TCC		PASS	0.607	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	NM_014275		5	21	5	21	---	---	---	---
MGAT1	4245	broad.mit.edu	37	5	180219177	180219177	+	Silent	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:180219177A>T	ENST00000446023.2	-	3	1545	c.795T>A	c.(793-795)ccT>ccA	p.P265P	MGAT1_ENST00000333055.3_Silent_p.P265P|MGAT1_ENST00000307826.4_Silent_p.P265P|MGAT1_ENST00000427865.2_Silent_p.P265P|MGAT1_ENST00000393340.3_Silent_p.P265P	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	265					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)	p.P265P(1)		endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCCCAGGCCAGGGAAAAAGT	0.667																																						uc003mmg.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(793-795)CCT>CCA		mannosyl (alpha-1,3-)-glycoprotein							38.0	39.0	39.0					5																	180219177		2197	4291	6488	SO:0001819	synonymous_variant	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180219177A>T	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.795T>A	5.37:g.180219177A>T						MGAT1_uc010jlf.2_Silent_p.P265P|MGAT1_uc010jlg.2_Silent_p.P265P|MGAT1_uc003mmh.3_Silent_p.P265P|MGAT1_uc010jlh.2_Silent_p.P265P|MGAT1_uc003mmi.3_Silent_p.P265P	p.P265P	NM_002406	NP_002397	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1290	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	265			Lumenal (Potential).		A8K404|B3KRU8|D3DWR1|Q6IBE3	Silent	SNP	ENST00000446023.2	37	c.795T>A	CCDS4458.1																																																																																				PASS	0.667	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		13	39	13	39	---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15507459	15507459	+	Silent	SNP	A	A	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:15507459A>C	ENST00000341776.2	+	10	2878	c.2634A>C	c.(2632-2634)ccA>ccC	p.P878P	JARID2_ENST00000541660.1_Silent_p.P840P|JARID2_ENST00000474854.1_3'UTR|JARID2_ENST00000397311.3_Silent_p.P706P	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	878					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.P878P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GTGGATTCCCAGTAGGAAAAT	0.552																																						uc003nbj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|pancreas(1)	4						c.(2632-2634)CCA>CCC		jumonji, AT rich interactive domain 2 protein							74.0	70.0	72.0					6																	15507459		2203	4300	6503	SO:0001819	synonymous_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15507459A>C	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2634A>C	6.37:g.15507459A>C						JARID2_uc011div.1_Silent_p.P706P|JARID2_uc011diw.1_Silent_p.P840P	p.P878P	NM_004973	NP_004964	Q92833	JARD2_HUMAN			10	2878	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	878			GSGFP motif.		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	c.2634A>C	CCDS4533.1																																																																																				PASS	0.552	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		11	39	11	39	---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15517446	15517446	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:15517446G>C	ENST00000341776.2	+	17	3749	c.3505G>C	c.(3505-3507)Gtg>Ctg	p.V1169L	JARID2_ENST00000397311.3_Missense_Mutation_p.V997L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1169					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.V1169L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCTGCGCCACGTGGAGAAACA	0.607																																						uc003nbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|pancreas(1)	4						c.(3505-3507)GTG>CTG		jumonji, AT rich interactive domain 2 protein							179.0	149.0	159.0					6																	15517446		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15517446G>C	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3505G>C	6.37:g.15517446G>C	ENSP00000341280:p.Val1169Leu					JARID2_uc011div.1_Missense_Mutation_p.V997L	p.V1169L	NM_004973	NP_004964	Q92833	JARD2_HUMAN			17	3749	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	1169					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.3505G>C	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278379	0.80692	.	.	ENSG00000008083	ENST00000341776;ENST00000397311	D;D	0.88277	-2.36;-2.36	5.12	5.12	0.69794	Zinc finger, C5HC2-type (1);	0.062950	0.64402	D	0.000005	D	0.83899	0.5354	N	0.19112	0.55	0.58432	D	0.999998	D	0.57257	0.979	P	0.59056	0.851	T	0.81221	-0.1031	10	0.10377	T	0.69	-14.3085	18.9128	0.92493	0.0:0.0:1.0:0.0	.	1169	Q92833	JARD2_HUMAN	L	1169;997	ENSP00000341280:V1169L;ENSP00000380478:V997L	ENSP00000341280:V1169L	V	+	1	0	JARID2	15625425	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.009000	0.88606	2.544000	0.85801	0.555000	0.69702	GTG		PASS	0.607	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		45	49	45	49	---	---	---	---
HFE	3077	broad.mit.edu	37	6	26091106	26091106	+	Silent	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:26091106A>G	ENST00000357618.5	+	2	236	c.114A>G	c.(112-114)tcA>tcG	p.S38S	HFE_ENST00000349999.4_Intron|HFE_ENST00000336625.8_Silent_p.S38S|HFE_ENST00000470149.1_Silent_p.S38S|HFE_ENST00000352392.4_Intron|HFE_ENST00000397022.3_Intron|HFE_ENST00000488199.1_Intron|HFE_ENST00000353147.5_Intron|HFE_ENST00000461397.1_Silent_p.S38S|HFE_ENST00000317896.7_Silent_p.S38S|HFE_ENST00000309234.6_Silent_p.S38S	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	38	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)	p.S38S(1)		endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGGTGCCTCAGAGCAGGACC	0.537									Hemochromatosis																													uc003nfx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(112-114)TCA>TCG		hemochromatosis protein isoform 1 precursor							181.0	163.0	169.0					6																	26091106		2203	4300	6503	SO:0001819	synonymous_variant	3077	Hemochromatosis	Familial Cancer Database		antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding	g.chr6:26091106A>G		CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"""Immunoglobulin superfamily / C1-set domain containing"""	4886	protein-coding gene	gene with protein product	"""high Fe"""	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.114A>G	6.37:g.26091106A>G						HFE_uc003nfy.1_Intron|HFE_uc010jqe.1_Silent_p.S38S|HFE_uc003nfz.1_Intron|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Silent_p.S38S|HFE_uc003ngb.1_Silent_p.S38S|HFE_uc003ngc.1_Silent_p.S38S|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron	p.S38S	NM_000410	NP_000401	Q30201	HFE_HUMAN			2	274	+			38			Extracellular (Potential).|Alpha-1.		B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Silent	SNP	ENST00000357618.5	37	c.114A>G	CCDS4578.1																																																																																				PASS	0.537	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356133.1			101	81	101	81	---	---	---	---
HIST1H2AE	3012	broad.mit.edu	37	6	26217562	26217562	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:26217562G>C	ENST00000303910.2	+	1	398	c.360G>C	c.(358-360)aaG>aaC	p.K120N	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	120						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K120N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TGCCTAAGAAGACGGAGAGCC	0.542																																						uc003nha.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(358-360)AAG>AAC		histone cluster 1, H2ae							55.0	56.0	55.0					6																	26217562		2203	4300	6503	SO:0001583	missense	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217562G>C	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.360G>C	6.37:g.26217562G>C	ENSP00000303373:p.Lys120Asn					HIST1H2BG_uc003ngz.2_5'Flank	p.K120N	NM_021052	NP_066390	P04908	H2A1B_HUMAN			1	415	+		all_hematologic(11;0.196)	120					P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	c.360G>C	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	5.025	0.190253	0.09547	.	.	ENSG00000168274	ENST00000303910	T	0.51574	0.7	4.07	2.25	0.28309	.	0.000000	0.35436	U	0.003214	T	0.57651	0.2068	M	0.93197	3.39	0.34871	D	0.743631	.	.	.	.	.	.	T	0.63928	-0.6526	8	0.72032	D	0.01	.	7.6737	0.28473	0.2708:0.0:0.7292:0.0	.	.	.	.	N	120	ENSP00000303373:K120N	ENSP00000303373:K120N	K	+	3	2	HIST1H2AE	26325541	1.000000	0.71417	0.998000	0.56505	0.339000	0.28857	0.557000	0.23454	0.470000	0.27294	-0.143000	0.13931	AAG		PASS	0.542	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		12	49	12	49	---	---	---	---
OR2B2	81697	broad.mit.edu	37	6	27879955	27879955	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:27879955A>T	ENST00000303324.2	-	1	219	c.143T>A	c.(142-144)gTg>gAg	p.V48E		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V48E(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						CACATGTGACACAAGAATTAT	0.388																																						uc011dkw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(142-144)GTG>GAG		olfactory receptor, family 2, subfamily B,							114.0	111.0	112.0					6																	27879955		2203	4300	6503	SO:0001583	missense	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879955A>T	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.143T>A	6.37:g.27879955A>T	ENSP00000304419:p.Val48Glu						p.V48E	NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN			1	143	-			48			Helical; Name=1; (Potential).		B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.143T>A	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.050651	0.36181	.	.	ENSG00000168131	ENST00000303324	T	0.03035	4.07	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.489152	0.14999	U	0.286208	T	0.14013	0.0339	H	0.95187	3.635	0.19300	N	0.999975	D	0.60160	0.987	P	0.60682	0.878	T	0.13415	-1.0510	10	0.87932	D	0	.	12.1623	0.54110	1.0:0.0:0.0:0.0	.	48	Q9GZK3	OR2B2_HUMAN	E	48	ENSP00000304419:V48E	ENSP00000304419:V48E	V	-	2	0	OR2B2	27987934	0.136000	0.22515	0.052000	0.19188	0.065000	0.16274	4.132000	0.57977	1.901000	0.55032	0.460000	0.39030	GTG		PASS	0.388	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			14	47	14	47	---	---	---	---
OR2B6	26212	broad.mit.edu	37	6	27925692	27925692	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:27925692T>C	ENST00000244623.1	+	1	674	c.674T>C	c.(673-675)gTa>gCa	p.V225A		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V225A(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTCCGAGCAGTATTGAGGATA	0.423																																						uc011dkx.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(673-675)GTA>GCA		olfactory receptor, family 2, subfamily B,							187.0	183.0	184.0					6																	27925692		2203	4300	6503	SO:0001583	missense	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925692T>C	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.674T>C	6.37:g.27925692T>C	ENSP00000244623:p.Val225Ala						p.V225A	NM_012367	NP_036499	P58173	OR2B6_HUMAN			1	674	+			225			Cytoplasmic (Potential).		O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	c.674T>C	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	t	11.82	1.752858	0.31046	.	.	ENSG00000124657	ENST00000244623	T	0.00316	8.13	3.55	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.338620	0.16241	U	0.223138	T	0.00356	0.0011	H	0.94698	3.57	0.09310	N	1	P	0.43024	0.798	P	0.53760	0.734	T	0.13791	-1.0496	10	0.72032	D	0.01	.	10.6866	0.45846	0.0:0.0:0.0:1.0	.	225	P58173	OR2B6_HUMAN	A	225	ENSP00000244623:V225A	ENSP00000244623:V225A	V	+	2	0	OR2B6	28033671	0.751000	0.28327	0.048000	0.18961	0.016000	0.09150	5.462000	0.66707	1.546000	0.49388	0.383000	0.25322	GTA		PASS	0.423	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			36	133	36	133	---	---	---	---
ZSCAN31	64288	broad.mit.edu	37	6	28294095	28294095	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:28294095C>A	ENST00000414429.1	-	8	1972	c.1069G>T	c.(1069-1071)Ggc>Tgc	p.G357C	ZSCAN31_ENST00000396838.2_Missense_Mutation_p.G357C|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.G357C|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.G357C|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.G198C			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	357					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.G357C(1)									AAGGCTTTGCCACACTCACGA	0.488																																						uc003nla.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1069-1071)GGC>TGC		zinc finger protein 323							201.0	184.0	190.0					6																	28294095		2203	4300	6503	SO:0001583	missense	64288				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28294095C>A		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.1069G>T	6.37:g.28294095C>A	ENSP00000390076:p.Gly357Cys					ZNF323_uc003nld.2_Missense_Mutation_p.G357C|ZNF323_uc010jra.2_Missense_Mutation_p.G357C|ZNF323_uc003nlb.2_Missense_Mutation_p.G198C|ZNF323_uc010jrb.2_Missense_Mutation_p.G198C|ZNF323_uc003nlc.2_Missense_Mutation_p.G357C	p.G357C	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN			4	1469	-			357			C2H2-type 5.		Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	c.1069G>T	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576740	0.65878	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000446474;ENST00000344279;ENST00000435857	T;T;T;T;T;T	0.07800	4.81;4.81;4.81;4.81;4.81;3.16	4.67	2.83	0.33086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19886	0.0478	M	0.90977	3.165	0.31877	N	0.618933	D	0.89917	1.0	D	0.72338	0.977	T	0.07046	-1.0793	9	0.87932	D	0	.	8.3723	0.32423	0.1548:0.7608:0.0:0.0843	.	357	Q96LW9	ZN323_HUMAN	C	357;357;357;198;357;198	ENSP00000380050:G357C;ENSP00000413705:G357C;ENSP00000390076:G357C;ENSP00000402937:G198C;ENSP00000345339:G357C;ENSP00000391235:G198C	ENSP00000345339:G357C	G	-	1	0	ZNF323	28402074	0.302000	0.24454	0.086000	0.20670	0.785000	0.44390	2.335000	0.43929	0.458000	0.26988	0.650000	0.86243	GGC		PASS	0.488	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		49	172	49	172	---	---	---	---
PRRC2A	7916	broad.mit.edu	37	6	31598561	31598561	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:31598561G>A	ENST00000376033.2	+	15	2682	c.2448G>A	c.(2446-2448)gaG>gaA	p.E816E	PRRC2A_ENST00000376007.4_Silent_p.E816E	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	816	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E816E(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTGCGGATGAGGATGACAAGG	0.562																																						uc003nvb.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2446-2448)GAG>GAA		HLA-B associated transcript-2							55.0	49.0	51.0					6																	31598561		2203	4300	6503	SO:0001819	synonymous_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31598561G>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2448G>A	6.37:g.31598561G>A						BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.E816E	p.E816E	NM_080686	NP_542417	P48634	PRC2A_HUMAN			15	2697	+			816			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	c.2448G>A	CCDS4708.1																																																																																				PASS	0.562	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		23	19	23	19	---	---	---	---
DDAH2	23564	broad.mit.edu	37	6	31692838	31692838	+	IGR	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:31692838C>T	ENST00000375789.2	-	0	1688				C6orf25_ENST00000375810.4_3'UTR|C6orf25_ENST00000375805.2_Missense_Mutation_p.A214V|DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375809.3_3'UTR			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2						arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|negative regulation of apoptotic process (GO:0043066)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of nitric oxide biosynthetic process (GO:0045429)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)	p.A238V(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	ACCATCTATGCAGTTGTAGTT	0.592																																						uc011doc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(712-714)GCA>GTA		G6B protein isoform G6b-B precursor							62.0	61.0	61.0					6																	31692838		1511	2709	4220	SO:0001628	intergenic_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692838C>T	AF070667	CCDS4718.1	6p21	2010-02-17			ENSG00000213722	ENSG00000213722	3.5.3.18		2716	protein-coding gene	gene with protein product		604744				10493931	Standard	XM_005248974		Approved		uc003nwq.3	O95865	OTTHUMG00000031212		6.37:g.31692838C>T						C6orf25_uc003nwk.2_3'UTR|C6orf25_uc011dod.1_Missense_Mutation_p.A194V|C6orf25_uc011doe.1_Missense_Mutation_p.A214V|C6orf25_uc003nwo.2_3'UTR|C6orf25_uc003nwn.2_3'UTR	p.A238V	NM_138272	NP_612116	O95866	G6B_HUMAN			6	713	+			238			Cytoplasmic (Potential).		A2BEZ7	Missense_Mutation	SNP	ENST00000375789.2	37	c.713C>T	CCDS4718.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952721	0.53293	.	.	ENSG00000204420	ENST00000375805;ENST00000375814;ENST00000375806	T;T;T	0.52526	0.66;0.66;0.66	4.9	4.9	0.64082	.	0.280487	0.25352	N	0.031286	T	0.35799	0.0944	L	0.34521	1.04	0.32624	N	0.522903	P;P;P	0.45957	0.869;0.869;0.869	P;P;P	0.50162	0.558;0.633;0.558	T	0.37454	-0.9705	10	0.87932	D	0	-6.8625	13.447	0.61146	0.0:1.0:0.0:0.0	.	214;194;238	O95866-3;O95866-5;O95866	.;.;G6B_HUMAN	V	214;194;238	ENSP00000364963:A214V;ENSP00000364972:A194V;ENSP00000364964:A238V	ENSP00000364963:A214V	A	+	2	0	C6orf25	31800817	0.982000	0.34865	0.951000	0.38953	0.018000	0.09664	3.298000	0.51818	2.554000	0.86153	0.655000	0.94253	GCA		PASS	0.592	DDAH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076432.2			25	35	25	35	---	---	---	---
DAXX	1616	broad.mit.edu	37	6	33288803	33288803	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:33288803C>T	ENST00000374542.5	-	3	953	c.749G>A	c.(748-750)gGc>gAc	p.G250D	DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.G250D|DAXX_ENST00000414083.2_Missense_Mutation_p.G175D	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	250	Interaction with histone H3.3.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.G250D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TATGACACGGCCGGTCAGTGA	0.587			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	uc003oec.2				Rec	yes		6	6p21.3	1616	Mis|F|N	death-domain associated protein			E			Pancreatic neuroendocrine tumors		1	Substitution - Missense(1)		lung(1)	pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						c.(748-750)GGC>GAC		death-domain associated protein isoform a							72.0	66.0	68.0					6																	33288803		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33288803C>T	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.749G>A	6.37:g.33288803C>T	ENSP00000363668:p.Gly250Asp					DAXX_uc011drd.1_Missense_Mutation_p.G175D|DAXX_uc011dre.1_Missense_Mutation_p.G262D|DAXX_uc003oed.2_Missense_Mutation_p.G250D|DAXX_uc010juw.2_Missense_Mutation_p.G175D	p.G250D	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN			3	953	-			250					B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.749G>A	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127217	0.77549	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.75774	0.3895	M	0.80422	2.495	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	T	0.79415	-0.1813	9	0.72032	D	0.01	-18.3588	15.1302	0.72517	0.0:1.0:0.0:0.0	.	262;250;250	B4E1C1;B2R7M0;Q9UER7	.;.;DAXX_HUMAN	D	250;250;175	.	ENSP00000266000:G250D	G	-	2	0	DAXX	33396781	1.000000	0.71417	0.286000	0.24833	0.870000	0.49936	6.370000	0.73114	2.437000	0.82529	0.643000	0.83706	GGC		PASS	0.587	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			47	53	47	53	---	---	---	---
GRM4	2914	broad.mit.edu	37	6	34008008	34008008	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:34008008C>T	ENST00000538487.2	-	8	1896	c.1453G>A	c.(1453-1455)Gat>Aat	p.D485N	GRM4_ENST00000544773.2_Missense_Mutation_p.D316N|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Missense_Mutation_p.D345N|GRM4_ENST00000374177.3_Missense_Mutation_p.D369N|GRM4_ENST00000609222.1_Missense_Mutation_p.D352N|GRM4_ENST00000374181.4_Missense_Mutation_p.D485N|GRM4_ENST00000535756.1_Missense_Mutation_p.D352N	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	485					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.D485N(2)|p.D369N(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TCGGCAGAATCGTTGCGCAGC	0.577																																						uc003oir.3																			3	Substitution - Missense(3)		lung(3)	lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(1453-1455)GAT>AAT		glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)						154.0	148.0	150.0					6																	34008008		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34008008C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1453G>A	6.37:g.34008008C>T	ENSP00000440556:p.Asp485Asn					GRM4_uc011dsn.1_Missense_Mutation_p.D438N|GRM4_uc010jvh.2_Missense_Mutation_p.D485N|GRM4_uc010jvi.2_Missense_Mutation_p.D177N|GRM4_uc003oio.2_Missense_Mutation_p.D177N|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.D345N|GRM4_uc003oiq.2_Missense_Mutation_p.D352N|GRM4_uc011dsm.1_Missense_Mutation_p.D316N	p.D485N	NM_000841	NP_000832	Q14833	GRM4_HUMAN			7	1623	-			485			Extracellular (Potential).		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.1453G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	1.988	-0.432412	0.04669	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	4.59	3.73	0.42828	.	0.556823	0.18810	N	0.130542	T	0.42810	0.1219	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.0;0.0;0.001	T	0.33317	-0.9873	10	0.21014	T	0.42	.	5.4776	0.16704	0.1606:0.6683:0.0:0.1711	.	438;316;345;485;352	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	N	485;369;177;352;316;485;345	ENSP00000363296:D485N;ENSP00000363292:D369N;ENSP00000445533:D177N;ENSP00000437925:D352N;ENSP00000437730:D316N;ENSP00000440556:D485N;ENSP00000398456:D345N	ENSP00000363292:D369N	D	-	1	0	GRM4	34115986	0.170000	0.23016	0.932000	0.37286	0.023000	0.10783	0.722000	0.25925	1.141000	0.42275	-0.224000	0.12420	GAT		PASS	0.577	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			43	134	43	134	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51611545	51611545	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:51611545C>A	ENST00000371117.3	-	59	10247	c.9972G>T	c.(9970-9972)aaG>aaT	p.K3324N	PKHD1_ENST00000340994.4_Missense_Mutation_p.K3324N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3324					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.K3324N(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAAGTAGAACTTGTTTTTAT	0.343																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(9970-9972)AAG>AAT		fibrocystin isoform 1							144.0	144.0	144.0					6																	51611545		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51611545C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9972G>T	6.37:g.51611545C>A	ENSP00000360158:p.Lys3324Asn					PKHD1_uc010jzn.1_Missense_Mutation_p.K1307N|PKHD1_uc003pai.2_Missense_Mutation_p.K3324N	p.K3324N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			59	10248	-	Lung NSC(77;0.0605)		3324			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9972G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.625607	0.66901	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89343	-2.31;-2.5	5.72	3.94	0.45596	.	0.168338	0.43747	D	0.000527	D	0.90463	0.7013	M	0.76002	2.32	0.33284	D	0.562709	D;P;D	0.76494	0.997;0.877;0.999	P;P;D	0.66084	0.879;0.451;0.941	D	0.90289	0.4321	10	0.72032	D	0.01	.	9.5051	0.39042	0.0:0.8389:0.0:0.1611	.	3324;3324;3324	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	N	3324	ENSP00000360158:K3324N;ENSP00000341097:K3324N	ENSP00000341097:K3324N	K	-	3	2	PKHD1	51719504	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	0.679000	0.25291	1.431000	0.47355	0.591000	0.81541	AAG		PASS	0.343	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		8	60	8	60	---	---	---	---
IL17F	112744	broad.mit.edu	37	6	52103568	52103568	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:52103568G>A	ENST00000336123.4	-	2	321	c.214C>T	c.(214-216)Cgt>Tgt	p.R72C		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	72					cartilage development (GO:0051216)|cytokine biosynthetic process (GO:0042089)|inflammatory response (GO:0006954)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045423)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of interleukin-8 biosynthetic process (GO:0045414)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)	p.R72C(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TCGATGTTACGTGACATGGAA	0.433																																						uc003pam.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(214-216)CGT>TGT		interleukin 17F precursor							80.0	79.0	79.0					6																	52103568		2203	4300	6503	SO:0001583	missense	112744				cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	g.chr6:52103568G>A	AF384857	CCDS4938.1	6p12	2014-09-17			ENSG00000112116	ENSG00000112116		"""Interleukins and interleukin receptors"""	16404	protein-coding gene	gene with protein product		606496				11591732, 11591768	Standard	NM_052872		Approved	IL-17F, ML-1, ML1	uc003pam.1	Q96PD4	OTTHUMG00000014845	ENST00000336123.4:c.214C>T	6.37:g.52103568G>A	ENSP00000337432:p.Arg72Cys					IL17F_uc003pal.1_Missense_Mutation_p.R18C	p.R72C	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN			2	285	-	Lung NSC(77;0.116)		72					Q6NSI0|Q7Z6P4|Q96PI8|Q9NUE6	Missense_Mutation	SNP	ENST00000336123.4	37	c.214C>T	CCDS4938.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560535	0.45590	.	.	ENSG00000112116	ENST00000336123	T	0.56103	0.48	5.76	2.64	0.31445	.	1.032470	0.07615	N	0.926023	T	0.24736	0.0600	L	0.29908	0.895	0.09310	N	1	D	0.60160	0.987	P	0.47162	0.54	T	0.11717	-1.0576	10	0.49607	T	0.09	0.002	4.2	0.10462	0.2193:0.0:0.5968:0.1839	.	72	Q96PD4	IL17F_HUMAN	C	72	ENSP00000337432:R72C	ENSP00000337432:R72C	R	-	1	0	IL17F	52211527	0.009000	0.17119	0.000000	0.03702	0.002000	0.02628	1.758000	0.38410	0.284000	0.22305	0.650000	0.86243	CGT		PASS	0.433	IL17F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040901.3	NM_052872		33	46	33	46	---	---	---	---
LRRC1	55227	broad.mit.edu	37	6	53778682	53778682	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:53778682T>C	ENST00000370888.1	+	11	1298	c.1021T>C	c.(1021-1023)Tgt>Cgt	p.C341R		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	341						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.C341R(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CACTGTGTTCTGTGTACGTGA	0.483																																						uc003pcd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1021-1023)TGT>CGT		leucine rich repeat containing 1							85.0	83.0	83.0					6																	53778682		1951	4144	6095	SO:0001583	missense	55227					cytoplasm|membrane		g.chr6:53778682T>C	AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1021T>C	6.37:g.53778682T>C	ENSP00000359925:p.Cys341Arg						p.C341R	NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0745)	11	1298	+	Lung NSC(77;0.0147)		341			LRR 15.		Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	c.1021T>C	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	T	14.46	2.542404	0.45280	.	.	ENSG00000137269	ENST00000370888	D	0.82893	-1.66	4.74	4.74	0.60224	.	0.131007	0.51477	D	0.000100	T	0.57184	0.2036	N	0.10874	0.06	0.80722	D	1	P	0.38250	0.624	B	0.38712	0.28	T	0.64024	-0.6504	10	0.29301	T	0.29	.	13.5688	0.61834	0.0:0.0:0.0:1.0	.	341	Q9BTT6	LRRC1_HUMAN	R	341	ENSP00000359925:C341R	ENSP00000359925:C341R	C	+	1	0	LRRC1	53886641	1.000000	0.71417	0.981000	0.43875	0.564000	0.35744	4.489000	0.60309	1.996000	0.58369	0.533000	0.62120	TGT		PASS	0.483	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		29	68	29	68	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55128572	55128572	+	Silent	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:55128572C>G	ENST00000370862.3	+	4	1050	c.714C>G	c.(712-714)ctC>ctG	p.L238L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	238					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.L238L(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CACTGTGTCTCATGGTGTTGG	0.383																																						uc003pcl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(712-714)CTC>CTG		orexin receptor 2							146.0	119.0	128.0					6																	55128572		2203	4300	6503	SO:0001819	synonymous_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55128572C>G	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.714C>G	6.37:g.55128572C>G						HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Silent_p.L173L	p.L238L	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		4	1029	+	Lung NSC(77;0.107)|Renal(3;0.122)		238			Helical; Name=5; (Potential).		Q5VTM0	Silent	SNP	ENST00000370862.3	37	c.714C>G	CCDS4956.1																																																																																				PASS	0.383	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			10	45	10	45	---	---	---	---
GFRAL	389400	broad.mit.edu	37	6	55196607	55196607	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:55196607A>T	ENST00000340465.2	+	2	203	c.117A>T	c.(115-117)aaA>aaT	p.K39N		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	39					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K39N(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATGGATGTAAACATGCTTGGA	0.338																																						uc003pcm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(115-117)AAA>AAT		GDNF family receptor alpha like precursor							111.0	101.0	104.0					6																	55196607		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55196607A>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.117A>T	6.37:g.55196607A>T	ENSP00000343636:p.Lys39Asn						p.K39N	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	203	+	Lung NSC(77;0.0875)|Renal(3;0.122)		39			Extracellular (Potential).		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.117A>T	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.278343	0.23307	.	.	ENSG00000187871	ENST00000340465	T	0.32988	1.43	4.92	-0.828	0.10799	GDNF/GAS1 (1);	0.334050	0.27866	N	0.017522	T	0.10423	0.0255	L	0.54323	1.7	0.09310	N	1	P	0.51653	0.947	P	0.44990	0.466	T	0.28870	-1.0030	10	0.20046	T	0.44	-8.2722	5.032	0.14415	0.5258:0.1677:0.3065:0.0	.	39	Q6UXV0	GFRAL_HUMAN	N	39	ENSP00000343636:K39N	ENSP00000343636:K39N	K	+	3	2	GFRAL	55304566	0.042000	0.20092	0.001000	0.08648	0.110000	0.19582	0.153000	0.16323	-0.020000	0.14032	-0.605000	0.04089	AAA		PASS	0.338	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		14	24	14	24	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69703760	69703760	+	Missense_Mutation	SNP	A	A	C	rs142372047		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:69703760A>C	ENST00000370598.1	+	11	2656	c.1835A>C	c.(1834-1836)tAt>tCt	p.Y612S		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	612					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.Y612S(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)				AAAAATTTCTATGCAGGCGAT	0.458																																						uc003pev.3																			1	Substitution - Missense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(1834-1836)TAT>TCT		brain-specific angiogenesis inhibitor 3							146.0	153.0	151.0					6																	69703760		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69703760A>C	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.1835A>C	6.37:g.69703760A>C	ENSP00000359630:p.Tyr612Ser					BAI3_uc010kak.2_Missense_Mutation_p.Y612S	p.Y612S	NM_001704	NP_001695	O60242	BAI3_HUMAN			11	2283	+		all_lung(197;0.212)	612			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.1835A>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.808303	0.90707	.	.	ENSG00000135298	ENST00000370598	T	0.10192	2.9	6.05	6.05	0.98169	Domain of unknown function DUF3497 (1);	0.141176	0.49305	D	0.000154	T	0.24005	0.0581	M	0.69358	2.11	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.00883	-1.1528	10	0.87932	D	0	.	16.5932	0.84781	1.0:0.0:0.0:0.0	.	612	O60242	BAI3_HUMAN	S	612	ENSP00000359630:Y612S	ENSP00000359630:Y612S	Y	+	2	0	BAI3	69760481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.310000	0.96267	2.320000	0.78422	0.528000	0.53228	TAT		PASS	0.458	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			103	48	103	48	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70610162	70610162	+	Silent	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:70610162A>G	ENST00000322773.4	+	4	300	c.198A>G	c.(196-198)agA>agG	p.R66R		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	66	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.R66R(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTTCTCTAAGACGTGCATTTT	0.269																																						uc003pfc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)	4						c.(196-198)AGA>AGG		alpha 1 type XIX collagen precursor							67.0	69.0	68.0					6																	70610162		2203	4294	6497	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70610162A>G		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.198A>G	6.37:g.70610162A>G							p.R66R	NM_001858	NP_001849	Q14993	COJA1_HUMAN			4	315	+			66			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.198A>G	CCDS4970.1																																																																																				PASS	0.269	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			10	50	10	50	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70778330	70778330	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:70778330C>T	ENST00000322773.4	+	15	1288	c.1186C>T	c.(1186-1188)Caa>Taa	p.Q396*	COL19A1_ENST00000393344.1_Nonsense_Mutation_p.Q18*	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	396	Collagen-like 3.|Triple-helical region 2 (COL2).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.Q396*(1)|p.Q396K(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCTGGGGATACAAGGCCCCCA	0.423																																						uc003pfc.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	ovary(2)|breast(2)	4						c.(1186-1188)CAA>TAA		alpha 1 type XIX collagen precursor							101.0	93.0	96.0					6																	70778330		2203	4300	6503	SO:0001587	stop_gained	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70778330C>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1186C>T	6.37:g.70778330C>T	ENSP00000316030:p.Gln396*					COL19A1_uc010kam.1_Nonsense_Mutation_p.Q292*	p.Q396*	NM_001858	NP_001849	Q14993	COJA1_HUMAN			15	1303	+			396			Triple-helical region 2 (COL2).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Nonsense_Mutation	SNP	ENST00000322773.4	37	c.1186C>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	39	7.305055	0.98200	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	.	.	.	5.38	4.46	0.54185	.	0.442698	0.21314	N	0.076591	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	12.8777	0.57999	0.0:0.8214:0.1786:0.0	.	.	.	.	X	396;18	.	ENSP00000316030:Q396X	Q	+	1	0	COL19A1	70835051	0.957000	0.32711	0.804000	0.32291	0.994000	0.84299	2.045000	0.41250	2.525000	0.85131	0.591000	0.81541	CAA		PASS	0.423	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			12	59	12	59	---	---	---	---
COL9A1	1297	broad.mit.edu	37	6	70978539	70978539	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:70978539G>C	ENST00000357250.6	-	17	1413	c.1255C>G	c.(1255-1257)Cgc>Ggc	p.R419G	COL9A1_ENST00000370499.4_Missense_Mutation_p.R176G|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.R176G	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	419	Collagen-like 4.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.R419G(1)|p.R176G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TATCCTGAGCGACCTGGTGGA	0.458																																						uc003pfg.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1255-1257)CGC>GGC		alpha 1 type IX collagen isoform 1 precursor							86.0	87.0	87.0					6																	70978539		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70978539G>C		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1255C>G	6.37:g.70978539G>C	ENSP00000349790:p.Arg419Gly					COL9A1_uc003pfe.3_5'UTR|COL9A1_uc003pff.3_Missense_Mutation_p.R176G	p.R419G	NM_001851	NP_001842	P20849	CO9A1_HUMAN			17	1414	-			419			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1255C>G	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.133931	0.56828	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.92699	-3.09;-3.09;-3.09	5.54	5.54	0.83059	.	0.179276	0.52532	D	0.000063	D	0.86037	0.5837	N	0.12853	0.265	0.48452	D	0.999659	P;P	0.51449	0.945;0.807	P;B	0.54270	0.747;0.323	D	0.85718	0.1323	10	0.23302	T	0.38	.	16.4154	0.83732	0.0:0.0:1.0:0.0	.	419;176	P20849;P20849-2	CO9A1_HUMAN;.	G	419;176;176	ENSP00000349790:R419G;ENSP00000315252:R176G;ENSP00000359530:R176G	ENSP00000315252:R176G	R	-	1	0	COL9A1	71035260	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	5.120000	0.64685	2.598000	0.87819	0.650000	0.86243	CGC		PASS	0.458	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			9	66	9	66	---	---	---	---
AK9	221264	broad.mit.edu	37	6	109854575	109854575	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:109854575T>A	ENST00000424296.2	-	28	3525	c.3449A>T	c.(3448-3450)cAa>cTa	p.Q1150L	AK9_ENST00000341338.6_Missense_Mutation_p.Q229L|AK9_ENST00000355283.1_Missense_Mutation_p.Q229L	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1150	Adenylate kinase 2.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.Q229L(2)|p.Q1150L(1)									ATCATCAACTTGTATAAAAAC	0.373																																						uc003ptn.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(3448-3450)CAA>CTA		adenylate kinase domain containing 1 isoform 1							113.0	105.0	108.0					6																	109854575		2203	4300	6503	SO:0001583	missense	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109854575T>A	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3449A>T	6.37:g.109854575T>A	ENSP00000410186:p.Gln1150Leu					AKD1_uc011eat.1_Missense_Mutation_p.Q229L	p.Q1150L	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			28	3526	-			1150					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.3449A>T	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.84|13.84	2.357761|2.357761	0.41801|0.41801	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000491875|ENST00000424296;ENST00000355283;ENST00000341338	.|T;T;T	.|0.76968	.|-1.06;-1.06;-1.06	5.29|5.29	4.06|4.06	0.47325|0.47325	.|ATPase, AAA+ type, core (1);	.|0.461990	.|0.23455	.|N	.|0.047984	.|T	.|0.56046	.|0.1959	L|L	0.38175|0.38175	1.15|1.15	0.24093|0.24093	N|N	0.995902|0.995902	.|B;P	.|0.45176	.|0.001;0.852	.|B;B	.|0.42462	.|0.002;0.388	.|T	.|0.51052	.|-0.8754	.|9	.|.	.|.	.|.	.|.	12.0144|12.0144	0.53305|0.53305	0.1291:0.0:0.0:0.8709|0.1291:0.0:0.0:0.8709	.|.	.|229;1150	.|Q5TCS8-5;Q5TCS8	.|.;AKD1_HUMAN	X|L	85|1150;229;229	.|ENSP00000410186:Q1150L;ENSP00000347431:Q229L;ENSP00000344637:Q229L	.|.	K|Q	-|-	1|2	0|0	AKD1|AKD1	109961268|109961268	0.938000|0.938000	0.31826|0.31826	1.000000|1.000000	0.80357|0.80357	0.808000|0.808000	0.45660|0.45660	2.141000|2.141000	0.42168|0.42168	2.140000|2.140000	0.66376|0.66376	0.523000|0.523000	0.50628|0.50628	AAG|CAA		PASS	0.373	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		45	20	45	20	---	---	---	---
KIAA1919	91749	broad.mit.edu	37	6	111583574	111583574	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:111583574G>T	ENST00000368847.4	+	2	495	c.142G>T	c.(142-144)Ggc>Tgc	p.G48C		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	48					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.G48C(1)		large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		ATATTTGAGTGGCTCTGTGAT	0.373																																						uc003puv.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(142-144)GGC>TGC		sodium-dependent glucose transporter 1							406.0	382.0	390.0					6																	111583574		2203	4300	6503	SO:0001583	missense	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111583574G>T	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.142G>T	6.37:g.111583574G>T	ENSP00000357840:p.Gly48Cys						p.G48C	NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	2	564	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	48			Helical; (Potential).		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	c.142G>T	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.990128	0.93106	.	.	ENSG00000173214	ENST00000368847	T	0.60424	0.19	6.04	6.04	0.98038	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.78521	0.4296	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80466	-0.1370	10	0.87932	D	0	-21.2691	20.1743	0.98175	0.0:0.0:1.0:0.0	.	48	Q5TF39	NAGT1_HUMAN	C	48	ENSP00000357840:G48C	ENSP00000357840:G48C	G	+	1	0	KIAA1919	111690267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.546000	0.90661	2.873000	0.98535	0.561000	0.74099	GGC		PASS	0.373	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		113	51	113	51	---	---	---	---
CCDC170	80129	broad.mit.edu	37	6	151859392	151859392	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:151859392C>A	ENST00000239374.7	+	3	498	c.399C>A	c.(397-399)aaC>aaA	p.N133K	CCDC170_ENST00000367290.5_Missense_Mutation_p.N133K|CCDC170_ENST00000544131.1_3'UTR	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	133								p.N133K(1)									TCAAGGAGAACCAGGAATTAA	0.358																																						uc003qol.2																			1	Substitution - Missense(1)		lung(1)		0						c.(397-399)AAC>AAA		hypothetical protein LOC80129							61.0	53.0	56.0					6																	151859392		1827	4088	5915	SO:0001583	missense	80129							g.chr6:151859392C>A	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.399C>A	6.37:g.151859392C>A	ENSP00000239374:p.Asn133Lys						p.N133K	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	3	488	+		Ovarian(120;0.126)	133			Potential.		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.399C>A	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407232	0.42715	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.10860	2.84;2.83	5.68	3.93	0.45458	.	0.050044	0.85682	D	0.000000	T	0.18257	0.0438	M	0.79805	2.47	0.38654	D	0.951925	D	0.76494	0.999	D	0.76071	0.987	T	0.02917	-1.1094	10	0.31617	T	0.26	-28.8308	8.9075	0.35532	0.0:0.6592:0.0:0.3408	.	133	Q8IYT3	CF097_HUMAN	K	133	ENSP00000239374:N133K;ENSP00000356259:N133K	ENSP00000239374:N133K	N	+	3	2	C6orf97	151901085	0.840000	0.29493	1.000000	0.80357	0.445000	0.32107	-0.106000	0.10890	0.775000	0.33450	-0.137000	0.14449	AAC		PASS	0.358	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		28	9	28	9	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152706908	152706908	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:152706908C>G	ENST00000367255.5	-	55	9154	c.8553G>C	c.(8551-8553)gaG>gaC	p.E2851D	SYNE1_ENST00000423061.1_Missense_Mutation_p.E2858D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2890D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2851D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2858D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2851					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E2851D(2)|p.E2858D(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATCTGTGAACTCGTGGACCG	0.393										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(8551-8553)GAG>GAC		spectrin repeat containing, nuclear envelope 1							190.0	178.0	182.0					6																	152706908		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152706908C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8553G>C	6.37:g.152706908C>G	ENSP00000356224:p.Glu2851Asp	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E2858D|SYNE1_uc003qou.3_Missense_Mutation_p.E2851D|SYNE1_uc010kjb.1_Missense_Mutation_p.E2834D	p.E2851D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	55	9155	-		Ovarian(120;0.0955)	2851			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.8553G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	7.045	0.563381	0.13498	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.55588	0.6;0.56;0.51;0.57;0.65	5.51	-2.82	0.05787	.	0.000000	0.64402	D	0.000005	T	0.21267	0.0512	L	0.50333	1.59	0.80722	D	1	P;P;P;P	0.38420	0.603;0.497;0.497;0.63	B;B;B;B	0.36092	0.089;0.108;0.108;0.217	T	0.17379	-1.0371	10	0.16420	T	0.52	.	11.215	0.48821	0.0:0.441:0.0:0.559	.	2834;2851;2851;2858	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	D	2851;2858;2851;2858;2890	ENSP00000356224:E2851D;ENSP00000396024:E2858D;ENSP00000265368:E2851D;ENSP00000390975:E2858D;ENSP00000341887:E2890D	ENSP00000265368:E2851D	E	-	3	2	SYNE1	152748601	0.812000	0.29077	0.800000	0.32199	0.084000	0.17831	-0.183000	0.09712	-0.793000	0.04475	-0.469000	0.05056	GAG		PASS	0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		69	53	69	53	---	---	---	---
SLC22A1	6580	broad.mit.edu	37	6	160551239	160551239	+	Splice_Site	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr6:160551239G>T	ENST00000366963.4	+	2	662	c.515G>T	c.(514-516)aGg>aTg	p.R172M	SLC22A1_ENST00000457470.2_Splice_Site_p.R172M|SLC22A1_ENST00000324965.4_Splice_Site_p.R172M	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	172					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)	p.R172M(1)	SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	TTTGCAGACAGGTATGTAAAG	0.498																																						uc003qtc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(514-516)AGG>ATG		solute carrier family 22 member 1 isoform a							175.0	161.0	166.0					6																	160551239		2203	4300	6503	SO:0001630	splice_region_variant	6580					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding	g.chr6:160551239G>T	U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.515+1G>T	6.37:g.160551239G>T						SLC22A1_uc003qtd.2_Missense_Mutation_p.R172M	p.R172M	NM_003057	NP_003048	O15245	S22A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	2	620	+		Breast(66;0.000776)|Ovarian(120;0.00556)	172			Cytoplasmic (Potential).		A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Missense_Mutation	SNP	ENST00000366963.4	37	c.515G>T	CCDS5274.1	.	.	.	.	.	.	.	.	.	.	g	14.31	2.498517	0.44455	.	.	ENSG00000175003	ENST00000366963;ENST00000324965;ENST00000457470	T;T;T	0.68181	-0.31;-0.31;-0.31	3.6	3.6	0.41247	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.270437	0.35936	U	0.002896	T	0.73055	0.3538	M	0.93638	3.44	0.52099	D	0.999945	B;B	0.29378	0.243;0.155	B;B	0.39339	0.138;0.297	T	0.80921	-0.1166	10	0.87932	D	0	.	15.435	0.75140	0.0:0.0:1.0:0.0	.	172;172	O15245-2;O15245	.;S22A1_HUMAN	M	172	ENSP00000355930:R172M;ENSP00000318103:R172M;ENSP00000409557:R172M	ENSP00000318103:R172M	R	+	2	0	SLC22A1	160471229	1.000000	0.71417	0.988000	0.46212	0.352000	0.29268	5.759000	0.68785	1.842000	0.53543	0.479000	0.44913	AGG		PASS	0.498	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2		Missense_Mutation	74	30	74	30	---	---	---	---
ADAP1	11033	broad.mit.edu	37	7	943784	943784	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:943784G>A	ENST00000265846.5	-	6	846	c.627C>T	c.(625-627)ttC>ttT	p.F209F	ADAP1_ENST00000449296.2_Silent_p.F137F|ADAP1_ENST00000539900.1_Silent_p.F220F|ADAP1_ENST00000463358.1_5'Flank	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	209	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF GTPase activity (GO:0032312)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.F209F(1)		endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						CATGGTAGATGAAGATGTTAC	0.662																																						uc003sjo.3																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(625-627)TTC>TTT		centaurin, alpha 1							109.0	92.0	98.0					7																	943784		2199	4297	6496	SO:0001819	synonymous_variant	11033				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding	g.chr7:943784G>A	AJ006422	CCDS5318.1, CCDS64576.1, CCDS64577.1, CCDS75558.1	7p22.3	2013-01-10	2008-09-22	2008-09-22	ENSG00000105963	ENSG00000105963		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16486	protein-coding gene	gene with protein product		608114	"""centaurin, alpha 1"""	CENTA1		10333475	Standard	NM_006869		Approved	GCS1L	uc003sjo.4	O75689	OTTHUMG00000023380	ENST00000265846.5:c.627C>T	7.37:g.943784G>A						ADAP1_uc003sjm.3_Silent_p.F35F|ADAP1_uc011jvs.1_Silent_p.F114F|ADAP1_uc003sjn.3_Silent_p.F137F|ADAP1_uc010ksc.2_Silent_p.F137F	p.F209F	NM_006869	NP_006860	O75689	ADAP1_HUMAN			6	803	-			209			PH 1.		A4D2Q2|B3KRZ4|B4DVA6|F6XZ68|H7C2Q4	Silent	SNP	ENST00000265846.5	37	c.627C>T	CCDS5318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	1.409|1.409	-0.576060|-0.576060	0.03882|0.03882	.|.	.|.	ENSG00000105963|ENSG00000105963	ENST00000454383|ENST00000446141;ENST00000437486;ENST00000453823	.|.	.|.	.|.	4.29|4.29	-2.79|-2.79	0.05841|0.05841	.|.	.|.	.|.	.|.	.|.	T|T	0.56108|0.56108	0.1963|0.1963	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.54616|0.54616	-0.8267|-0.8267	4|4	.|.	.|.	.|.	-21.3358|-21.3358	11.4005|11.4005	0.49868|0.49868	0.6731:0.0:0.3269:0.0|0.6731:0.0:0.3269:0.0	.|.	.|.	.|.	.|.	Y|L	150|192;143;152	.|.	.|.	H|S	-|-	1|2	0|0	ADAP1|ADAP1	910310|910310	0.941000|0.941000	0.31946|0.31946	0.804000|0.804000	0.32291|0.32291	0.123000|0.123000	0.20343|0.20343	0.520000|0.520000	0.22878|0.22878	-0.444000|-0.444000	0.07170|0.07170	-0.265000|-0.265000	0.10407|0.10407	CAT|TCA		PASS	0.662	ADAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059701.2	NM_006869		92	16	92	16	---	---	---	---
SCIN	85477	broad.mit.edu	37	7	12684270	12684270	+	Silent	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:12684270C>G	ENST00000297029.5	+	13	1922	c.1821C>G	c.(1819-1821)acC>acG	p.T607T	SCIN_ENST00000519209.1_Silent_p.T360T|SCIN_ENST00000445618.2_Silent_p.T360T	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	607	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.T607T(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TACTGGAAACCCAGGCTGAAG	0.473																																						uc003ssn.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1819-1821)ACC>ACG		scinderin isoform 1							52.0	52.0	52.0					7																	12684270		1899	4121	6020	SO:0001819	synonymous_variant	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12684270C>G	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1821C>G	7.37:g.12684270C>G						SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Silent_p.T360T	p.T607T	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	13	2031	+			607			Ca(2+)-dependent actin binding.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Silent	SNP	ENST00000297029.5	37	c.1821C>G	CCDS47545.1																																																																																				PASS	0.473	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		28	5	28	5	---	---	---	---
PRPS1L1	221823	broad.mit.edu	37	7	18067020	18067020	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:18067020A>G	ENST00000506618.2	-	1	466	c.386T>C	c.(385-387)cTa>cCa	p.L129P		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	129					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.L129P(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					AGAAGCATGTAGGTCCATGGT	0.463																																						uc003stz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(385-387)CTA>CCA		phosphoribosyl pyrophosphate synthetase 1-like							141.0	139.0	140.0					7																	18067020		2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067020A>G	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.386T>C	7.37:g.18067020A>G	ENSP00000424595:p.Leu129Pro						p.L129P	NM_175886	NP_787082	P21108	PRPS3_HUMAN			1	467	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		129					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.386T>C	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.799727	0.50208	.	.	ENSG00000229937	ENST00000506618	D	0.92647	-3.08	4.47	3.3	0.37823	Phosphoribosyl pyrophosphate synthetase, conserved site (1);	.	.	.	.	D	0.96027	0.8706	M	0.91510	3.215	.	.	.	D	0.89917	1.0	D	0.71870	0.975	D	0.97022	0.9744	8	0.87932	D	0	.	8.9098	0.35546	0.8334:0.0:0.0:0.1666	.	129	P21108	PRPS3_HUMAN	P	129	ENSP00000424595:L129P	ENSP00000424595:L129P	L	-	2	0	PRPS1L1	18033545	1.000000	0.71417	0.073000	0.20177	0.944000	0.59088	6.653000	0.74382	0.847000	0.35167	0.528000	0.53228	CTA		PASS	0.463	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		86	101	86	101	---	---	---	---
FERD3L	222894	broad.mit.edu	37	7	19184887	19184887	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:19184887G>A	ENST00000275461.3	-	1	157	c.99C>T	c.(97-99)ttC>ttT	p.F33F	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	33					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F33F(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CCCCGGGTGCGAAGTCGCAGA	0.662																																						uc003suo.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(97-99)TTC>TTT		nephew of atonal 3							37.0	36.0	36.0					7																	19184887		2201	4300	6501	SO:0001819	synonymous_variant	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184887G>A	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.99C>T	7.37:g.19184887G>A						uc003sun.1_RNA	p.F33F	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN			1	158	-			33					Q495K0	Silent	SNP	ENST00000275461.3	37	c.99C>T	CCDS5368.1																																																																																				PASS	0.662	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			97	16	97	16	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21784505	21784505	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:21784505G>A	ENST00000409508.3	+	51	8365	c.8334G>A	c.(8332-8334)atG>atA	p.M2778I	DNAH11_ENST00000328843.6_Missense_Mutation_p.M2785I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2785					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.M2785I(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATAGTCACATGCTGCTTCAAC	0.478									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(8353-8355)ATG>ATA		dynein, axonemal, heavy chain 11							70.0	65.0	66.0					7																	21784505		1979	4170	6149	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21784505G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8334G>A	7.37:g.21784505G>A	ENSP00000475939:p.Met2778Ile						p.M2785I	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			52	8386	+			2785					Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.8355G>A		.	.	.	.	.	.	.	.	.	.	G	3.830	-0.035949	0.07497	.	.	ENSG00000105877	ENST00000328843	T	0.21734	1.99	5.4	-2.07	0.07276	.	1.545090	0.03713	N	0.250568	T	0.10121	0.0248	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20840	-1.0263	9	0.23302	T	0.38	.	1.07	0.01619	0.1663:0.2021:0.2116:0.4201	.	2785	Q96DT5	DYH11_HUMAN	I	2785	ENSP00000330671:M2785I	ENSP00000330671:M2785I	M	+	3	0	DNAH11	21751030	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	-0.579000	0.05834	-0.243000	0.09653	-0.176000	0.13171	ATG		PASS	0.478	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		24	6	24	6	---	---	---	---
NOD1	10392	broad.mit.edu	37	7	30492415	30492415	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:30492415C>T	ENST00000222823.4	-	6	1143	c.618G>A	c.(616-618)gtG>gtA	p.V206V	NOD1_ENST00000423334.2_Intron	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	206	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.V206V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGGACTTGCCCACCCCAGCAT	0.622																																						uc003tav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(616-618)GTG>GTA		nucleotide-binding oligomerization domain							90.0	86.0	88.0					7																	30492415		2203	4300	6503	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30492415C>T	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.618G>A	7.37:g.30492415C>T						NOD1_uc010kvs.2_Intron	p.V206V	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			6	1141	-			206			NACHT.|ATP (Potential).		B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.618G>A	CCDS5427.1																																																																																				PASS	0.622	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			49	101	49	101	---	---	---	---
DPY19L1	23333	broad.mit.edu	37	7	35051053	35051053	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:35051053C>A	ENST00000310974.4	-	5	484	c.340G>T	c.(340-342)Gcc>Tcc	p.A114S		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	114						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.A114S(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TACCAACTGGCCAAAATTACC	0.323																																						uc003tem.3																			1	Substitution - Missense(1)		lung(1)		0						c.(340-342)GCC>TCC		dpy-19-like 1							50.0	45.0	47.0					7																	35051053		1802	4067	5869	SO:0001583	missense	23333					integral to membrane		g.chr7:35051053C>A	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.340G>T	7.37:g.35051053C>A	ENSP00000308695:p.Ala114Ser						p.A114S	NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN			5	485	-			114					O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	c.340G>T	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578941	0.65878	.	.	ENSG00000173852	ENST00000310974	T	0.61274	0.12	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	L	0.46157	1.445	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.66948	-0.5794	10	0.34782	T	0.22	-11.204	18.1605	0.89706	0.0:1.0:0.0:0.0	.	114	Q2PZI1	D19L1_HUMAN	S	114	ENSP00000308695:A114S	ENSP00000308695:A114S	A	-	1	0	DPY19L1	35017578	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	5.847000	0.69451	2.533000	0.85409	0.650000	0.86243	GCC		PASS	0.323	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			25	32	25	32	---	---	---	---
WBSCR22	114049	broad.mit.edu	37	7	73105283	73105283	+	Nonsense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:73105283A>T	ENST00000265758.2	+	6	458	c.400A>T	c.(400-402)Aag>Tag	p.K134*	WBSCR22_ENST00000423166.2_Intron|WBSCR22_ENST00000423497.1_Nonsense_Mutation_p.K134*	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	134					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.K134*(1)		autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGCTAACAAGAAGTCTGAAAA	0.478																																						uc003tyt.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(400-402)AAG>TAG		Williams Beuren syndrome chromosome region 22							248.0	238.0	241.0					7																	73105283		2203	4300	6503	SO:0001587	stop_gained	114049					nucleus	methyltransferase activity	g.chr7:73105283A>T	AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"""metastasis-related methyltransferase 1"""	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.400A>T	7.37:g.73105283A>T	ENSP00000265758:p.Lys134*					WBSCR22_uc010lbi.1_Intron|WBSCR22_uc003tyu.2_Nonsense_Mutation_p.K134*|WBSCR22_uc003tyv.2_Nonsense_Mutation_p.K96*|WBSCR22_uc003tyw.1_Intron	p.K134*	NM_017528	NP_059998	O43709	WBS22_HUMAN			6	458	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	134					A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Nonsense_Mutation	SNP	ENST00000265758.2	37	c.400A>T	CCDS5557.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	36|36	5.623856|5.623856	0.96660|0.96660	.|.	.|.	ENSG00000071462|ENSG00000071462	ENST00000442099|ENST00000265758;ENST00000423497	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.246048	.|0.47852	.|D	.|0.000219	T|.	0.36580|.	0.0972|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22208|.	-1.0223|.	4|.	.|0.02654	.|T	.|1	-10.7752|-10.7752	13.6116|13.6116	0.62083|0.62083	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	13|134	.|.	.|ENSP00000265758:K134X	E|K	+|+	2|1	0|0	WBSCR22|WBSCR22	72743219|72743219	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.457000|0.457000	0.32468|0.32468	6.542000|6.542000	0.73869|0.73869	2.110000|2.110000	0.64415|0.64415	0.402000|0.402000	0.26972|0.26972	GAA|AAG		PASS	0.478	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252303.1			66	125	66	125	---	---	---	---
CLIP2	7461	broad.mit.edu	37	7	73790773	73790773	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:73790773A>G	ENST00000395060.1	+	9	2042	c.2042A>G	c.(2041-2043)gAg>gGg	p.E681G	CLIP2_ENST00000361545.5_Missense_Mutation_p.E646G|CLIP2_ENST00000223398.6_Missense_Mutation_p.E681G			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	681						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)		p.E646G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CACGTGAAGGAGAAGGAGGCC	0.647																																						uc003uam.2																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(2041-2043)GAG>GGG		CAP-GLY domain containing linker protein 2							44.0	46.0	46.0					7																	73790773		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73790773A>G	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2042A>G	7.37:g.73790773A>G	ENSP00000378500:p.Glu681Gly					CLIP2_uc003uan.2_Missense_Mutation_p.E646G|CLIP2_uc003uao.2_Missense_Mutation_p.E75G	p.E681G	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN			10	2369	+			681			Potential.		O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.2042A>G	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.246774	0.80024	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.70869	-0.38;-0.52;-0.38	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.82591	0.5070	M	0.71036	2.16	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	D	0.84688	0.0721	10	0.72032	D	0.01	-37.1784	13.8175	0.63301	1.0:0.0:0.0:0.0	.	646;646;681	A7E2F7;Q9UDT6-2;Q9UDT6	.;.;CLIP2_HUMAN	G	681;681;646;681	ENSP00000223398:E681G;ENSP00000355151:E646G;ENSP00000378500:E681G	ENSP00000223398:E681G	E	+	2	0	CLIP2	73428709	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.715000	0.91416	1.935000	0.56089	0.369000	0.22263	GAG		PASS	0.647	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		32	33	32	33	---	---	---	---
GNAI1	2770	broad.mit.edu	37	7	79846737	79846737	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:79846737T>A	ENST00000351004.3	+	8	1366	c.993T>A	c.(991-993)aaT>aaA	p.N331K	GNAI1_ENST00000457358.2_Missense_Mutation_p.N279K	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	331					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.N331K(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						ATACTAAGAATGTGCAGTTTG	0.338																																						uc003uhb.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(991-993)AAT>AAA		guanine nucleotide binding protein (G protein),							135.0	123.0	127.0					7																	79846737		2203	4300	6503	SO:0001583	missense	2770				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity	g.chr7:79846737T>A	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.993T>A	7.37:g.79846737T>A	ENSP00000343027:p.Asn331Lys					GNAI1_uc011kgt.1_Missense_Mutation_p.N279K	p.N331K	NM_002069	NP_002060	P63096	GNAI1_HUMAN			8	1330	+			331					A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	37	c.993T>A	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.268247	0.59540	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	T;T	0.73363	-0.74;-0.74	5.63	0.453	0.16639	.	0.000000	0.85682	D	0.000000	D	0.88036	0.6329	H	0.96269	3.795	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.87058	0.2151	9	.	.	.	.	9.7634	0.40545	0.0:0.2594:0.0:0.7406	.	331	P63096	GNAI1_HUMAN	K	331;279	ENSP00000343027:N331K;ENSP00000410572:N279K	.	N	+	3	2	GNAI1	79684673	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	0.735000	0.26115	-0.144000	0.11314	0.460000	0.39030	AAT		PASS	0.338	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		31	39	31	39	---	---	---	---
SEMA3E	9723	broad.mit.edu	37	7	83029392	83029392	+	Silent	SNP	G	G	T	rs377657646		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:83029392G>T	ENST00000307792.3	-	11	1785	c.1318C>A	c.(1318-1320)Cga>Aga	p.R440R	SEMA3E_ENST00000427262.1_Silent_p.R380R	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	440	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R440R(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCTTCCACTCGATCTACTGCT	0.368																																						uc003uhy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1318-1320)CGA>AGA		semaphorin 3E precursor							209.0	191.0	197.0					7																	83029392		2203	4300	6503	SO:0001819	synonymous_variant	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83029392G>T	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1318C>A	7.37:g.83029392G>T							p.R440R	NM_012431	NP_036563	O15041	SEM3E_HUMAN			11	1784	-		Medulloblastoma(109;0.109)	440			Sema.		B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	37	c.1318C>A	CCDS34674.1																																																																																				PASS	0.368	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		61	144	61	144	---	---	---	---
DBF4	10926	broad.mit.edu	37	7	87537254	87537254	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:87537254G>C	ENST00000265728.1	+	12	2305	c.1801G>C	c.(1801-1803)Gaa>Caa	p.E601Q		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	601					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E601Q(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TAAAAGAACTGAATTTATTAC	0.303																																						uc003ujf.1																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(1801-1803)GAA>CAA		activator of S phase kinase							38.0	45.0	43.0					7																	87537254		2203	4294	6497	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87537254G>C	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1801G>C	7.37:g.87537254G>C	ENSP00000265728:p.Glu601Gln					DBF4_uc003ujh.1_Missense_Mutation_p.E341Q|DBF4_uc003ujg.1_Missense_Mutation_p.E377Q|DBF4_uc011khf.1_Missense_Mutation_p.E368Q	p.E601Q	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN			12	2305	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	601					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.1801G>C	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666533	0.67814	.	.	ENSG00000006634	ENST00000265728	T	0.35605	1.3	5.13	5.13	0.70059	.	0.180634	0.37906	N	0.001889	T	0.53514	0.1801	M	0.61703	1.905	0.33046	D	0.532125	D;P	0.71674	0.998;0.956	P;P	0.59115	0.852;0.63	T	0.65348	-0.6190	10	0.51188	T	0.08	-14.6313	16.7733	0.85544	0.0:0.0:1.0:0.0	.	377;601	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	Q	601	ENSP00000265728:E601Q	ENSP00000265728:E601Q	E	+	1	0	DBF4	87375190	1.000000	0.71417	0.998000	0.56505	0.858000	0.48976	3.690000	0.54713	2.386000	0.81285	0.650000	0.86243	GAA		PASS	0.303	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		34	68	34	68	---	---	---	---
STEAP1	26872	broad.mit.edu	37	7	89791272	89791272	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:89791272G>A	ENST00000297205.2	+	4	842	c.642G>A	c.(640-642)tgG>tgA	p.W214*	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	214	Ferric oxidoreductase.				ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)	p.W214*(1)		kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					ATGATGTTTGGAGAATGGAGA	0.398																																						uc003ujx.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(640-642)TGG>TGA		six transmembrane epithelial antigen of the							144.0	131.0	135.0					7																	89791272		2203	4300	6503	SO:0001587	stop_gained	26872				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:89791272G>A	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.642G>A	7.37:g.89791272G>A	ENSP00000297205:p.Trp214*					STEAP1_uc010lem.2_Nonsense_Mutation_p.W214*	p.W214*	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN			4	842	+	all_hematologic(106;0.112)		214			Ferric oxidoreductase.		A4D1E0|O95034	Nonsense_Mutation	SNP	ENST00000297205.2	37	c.642G>A	CCDS5614.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765653	0.90020	.	.	ENSG00000164647	ENST00000297205	.	.	.	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1281	19.6375	0.95740	0.0:0.0:1.0:0.0	.	.	.	.	X	214	.	ENSP00000297205:W214X	W	+	3	0	STEAP1	89629208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.031000	0.93731	2.640000	0.89533	0.655000	0.94253	TGG		PASS	0.398	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		43	80	43	80	---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92763529	92763529	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:92763529T>C	ENST00000318238.4	-	5	2972	c.1756A>G	c.(1756-1758)Att>Gtt	p.I586V	SAMD9L_ENST00000411955.1_Missense_Mutation_p.I586V|SAMD9L_ENST00000437805.1_Missense_Mutation_p.I586V	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	586					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.I586V(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CGTTGATAAATATGTGAGTTT	0.358																																						uc003umh.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1756-1758)ATT>GTT		sterile alpha motif domain containing 9-like							73.0	71.0	71.0					7																	92763529		2203	4298	6501	SO:0001583	missense	219285							g.chr7:92763529T>C	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1756A>G	7.37:g.92763529T>C	ENSP00000326247:p.Ile586Val					SAMD9L_uc003umj.1_Missense_Mutation_p.I586V|SAMD9L_uc003umi.1_Missense_Mutation_p.I586V|SAMD9L_uc010lfb.1_Missense_Mutation_p.I586V|SAMD9L_uc003umk.1_Missense_Mutation_p.I586V|SAMD9L_uc010lfc.1_Missense_Mutation_p.I586V|SAMD9L_uc010lfd.1_Missense_Mutation_p.I586V|SAMD9L_uc011khx.1_Intron	p.I586V	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	2972	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		586					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1756A>G	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	T	7.172	0.587845	0.13812	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.13196	2.61;2.61;2.61	4.75	3.58	0.41010	.	0.260319	0.29916	N	0.010873	T	0.15565	0.0375	M	0.61703	1.905	0.09310	N	1	B	0.21225	0.053	B	0.20955	0.032	T	0.13522	-1.0506	10	0.42905	T	0.14	-6.6056	10.5454	0.45058	0.145:0.0:0.0:0.855	.	586	Q8IVG5	SAM9L_HUMAN	V	586	ENSP00000326247:I586V;ENSP00000405760:I586V;ENSP00000408796:I586V	ENSP00000326247:I586V	I	-	1	0	SAMD9L	92601465	0.003000	0.15002	0.068000	0.19968	0.041000	0.13682	1.101000	0.31037	0.816000	0.34421	0.383000	0.25322	ATT		PASS	0.358	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		61	89	61	89	---	---	---	---
CALCR	799	broad.mit.edu	37	7	93073056	93073056	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:93073056A>G	ENST00000394441.1	-	8	977	c.662T>C	c.(661-663)aTt>aCt	p.I221T	CALCR_ENST00000426151.1_Missense_Mutation_p.I221T|CALCR_ENST00000360249.4_Missense_Mutation_p.I237T|CALCR_ENST00000359558.2_Missense_Mutation_p.I255T|CALCR_ENST00000421592.1_Missense_Mutation_p.I237T	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	255					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.I255T(1)|p.I221T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	AAAATGCAAAATCTTGCAGCT	0.433																																						uc003umv.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(763-765)ATT>ACT		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						102.0	97.0	99.0					7																	93073056		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93073056A>G	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.662T>C	7.37:g.93073056A>G	ENSP00000377959:p.Ile221Thr					CALCR_uc011kia.1_Missense_Mutation_p.I35T|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.I221T|CALCR_uc003umw.2_Missense_Mutation_p.I221T	p.I255T	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		10	1025	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		237			Helical; Name=3; (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.764T>C	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.912484	0.52439	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	4.94	4.94	0.65067	.	.	.	.	.	T	0.29684	0.0741	N	0.21194	0.64	0.40775	D	0.983129	P;B	0.37824	0.609;0.016	B;B	0.38985	0.287;0.07	T	0.26087	-1.0113	9	0.87932	D	0	.	15.0839	0.72135	1.0:0.0:0.0:0.0	.	255;221	F5H605;A4D1G6	.;.	T	255;237;237;221;221	ENSP00000352561:I255T;ENSP00000353385:I237T;ENSP00000399552:I237T;ENSP00000377959:I221T;ENSP00000389295:I221T	ENSP00000352561:I255T	I	-	2	0	CALCR	92910992	0.997000	0.39634	0.221000	0.23827	0.779000	0.44077	9.139000	0.94554	2.223000	0.72356	0.455000	0.32223	ATT		PASS	0.433	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		39	58	39	58	---	---	---	---
CALCR	799	broad.mit.edu	37	7	93106913	93106913	+	Silent	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:93106913G>T	ENST00000394441.1	-	4	588	c.273C>A	c.(271-273)tcC>tcA	p.S91S	CALCR_ENST00000426151.1_Silent_p.S91S|CALCR_ENST00000360249.4_Silent_p.S91S|CALCR_ENST00000359558.2_Silent_p.S109S|CALCR_ENST00000421592.1_Silent_p.S91S	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	109					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.S91S(1)|p.S109S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	AGAACTGATAGGACAATACTC	0.423																																						uc003umv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(325-327)TCC>TCA		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						94.0	84.0	87.0					7																	93106913		2203	4300	6503	SO:0001819	synonymous_variant	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93106913G>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.273C>A	7.37:g.93106913G>T						CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.S91S|CALCR_uc003umw.2_Silent_p.S91S	p.S109S	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		5	588	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		91			Extracellular (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	c.327C>A	CCDS5631.1																																																																																				PASS	0.423	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		18	38	18	38	---	---	---	---
SLC25A13	10165	broad.mit.edu	37	7	95750514	95750514	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:95750514C>A	ENST00000265631.5	-	18	2153	c.2017G>T	c.(2017-2019)Gga>Tga	p.G673*	SLC25A13_ENST00000416240.2_Nonsense_Mutation_p.G674*|SLC25A13_ENST00000494085.1_5'UTR|SLC25A13_ENST00000542654.1_Nonsense_Mutation_p.G565*			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	673					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)	p.G673*(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TATGGGCCTCCACCAATAGCC	0.453																																						uc003uof.3																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(3)|skin(1)	4						c.(2017-2019)GGA>TGA		solute carrier family 25, member 13 isoform 2	L-Aspartic Acid(DB00128)						99.0	100.0	99.0					7																	95750514		2203	4300	6503	SO:0001587	stop_gained	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95750514C>A	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.2017G>T	7.37:g.95750514C>A	ENSP00000265631:p.Gly673*					SLC25A13_uc003uog.3_Nonsense_Mutation_p.G674*|SLC25A13_uc011kik.1_Nonsense_Mutation_p.G565*	p.G673*	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		18	2208	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		673					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Nonsense_Mutation	SNP	ENST00000265631.5	37	c.2017G>T	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019429	0.93462	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	.	.	.	4.5	1.73	0.24493	.	0.382752	0.23736	N	0.045063	.	.	.	.	.	.	0.25537	N	0.987215	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-0.3597	6.6875	0.23154	0.0:0.6224:0.0:0.3776	.	.	.	.	X	673;674;565	.	ENSP00000265631:G673X	G	-	1	0	SLC25A13	95588450	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	1.007000	0.29860	0.403000	0.25479	0.655000	0.94253	GGA		PASS	0.453	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		52	85	52	85	---	---	---	---
TECPR1	25851	broad.mit.edu	37	7	97860328	97860328	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:97860328T>C	ENST00000447648.2	-	15	2526	c.2227A>G	c.(2227-2229)Agc>Ggc	p.S743G	TECPR1_ENST00000379795.3_Missense_Mutation_p.S744G|TECPR1_ENST00000479975.1_5'Flank|TECPR1_ENST00000542604.1_Missense_Mutation_p.S673G			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	743					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.S743G(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGGGCTCGCTCACGAAGATG	0.697																																						uc003upg.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2227-2229)AGC>GGC		tectonin beta-propeller repeat containing 1							33.0	41.0	38.0					7																	97860328		2022	4187	6209	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97860328T>C		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2227A>G	7.37:g.97860328T>C	ENSP00000404923:p.Ser743Gly					TECPR1_uc003uph.1_Missense_Mutation_p.S673G	p.S743G	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN			15	2432	-			743			TECPR 5.		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.2227A>G	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	T	17.75	3.466847	0.63625	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.33865	1.41;1.41;1.39	4.66	4.66	0.58398	.	0.161448	0.64402	D	0.000005	T	0.52435	0.1734	M	0.70595	2.14	0.43588	D	0.995938	D;D	0.67145	0.983;0.996	P;P	0.60286	0.857;0.872	T	0.50533	-0.8817	10	0.25106	T	0.35	-23.7091	13.6227	0.62146	0.0:0.0:0.0:1.0	.	673;743	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	G	743;744;673	ENSP00000404923:S743G;ENSP00000369121:S744G;ENSP00000441121:S673G	ENSP00000369121:S744G	S	-	1	0	TECPR1	97698264	1.000000	0.71417	0.996000	0.52242	0.909000	0.53808	4.029000	0.57253	1.879000	0.54435	0.374000	0.22700	AGC		PASS	0.697	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		21	41	21	41	---	---	---	---
TRIM4	89122	broad.mit.edu	37	7	99489826	99489826	+	Nonsense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:99489826A>T	ENST00000355947.2	-	7	1592	c.1463T>A	c.(1462-1464)tTa>tAa	p.L488*	TRIM4_ENST00000349062.2_Nonsense_Mutation_p.L462*	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	488	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.L488*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				TAAAGATGCTAATGGACTCAA	0.502																																						uc003usd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(1462-1464)TTA>TAA		tripartite motif protein TRIM4 isoform alpha							83.0	79.0	80.0					7																	99489826		2203	4300	6503	SO:0001587	stop_gained	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99489826A>T	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1463T>A	7.37:g.99489826A>T	ENSP00000348216:p.Leu488*					TRIM4_uc003use.2_Nonsense_Mutation_p.L462*|TRIM4_uc011kjc.1_Nonsense_Mutation_p.L318*	p.L488*	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN			7	1593	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	488			B30.2/SPRY.		A4D298|Q75MK1|Q96F06|Q9C036	Nonsense_Mutation	SNP	ENST00000355947.2	37	c.1463T>A	CCDS5679.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.569956	0.86542	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799	.	.	.	2.64	0.0811	0.14423	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	0.4488	0.00498	0.4257:0.2223:0.135:0.217	.	.	.	.	X	488;462;318	.	ENSP00000275736:L462X	L	-	2	0	TRIM4	99327762	0.026000	0.19158	0.137000	0.22149	0.983000	0.72400	0.410000	0.21098	0.017000	0.15025	-0.256000	0.11100	TTA		PASS	0.502	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		32	48	32	48	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100389666	100389666	+	RNA	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:100389666G>A	ENST00000348028.3	+	0	7772				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2535P(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AATGTAGCCCGGAGCAGCTGG	0.682																																						uc003uwj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(7606-7608)CCG>CCA		zonadhesin isoform 3							20.0	25.0	23.0					7																	100389666		2069	4211	6280			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100389666G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100389666G>A						ZAN_uc003uwk.2_Silent_p.P2536P|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.R529Q	p.P2536P	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		42	7773	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2536			VWFD 4.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.7608G>A		.	.	.	.	.	.	.	.	.	.	g	12.80	2.045671	0.36085	.	.	ENSG00000146839	ENST00000546213	T	0.25579	1.79	3.14	-2.08	0.07254	.	.	.	.	.	T	0.09818	0.0241	N	0.08118	0	0.18873	N	0.999988	B	0.29862	0.259	B	0.16722	0.016	T	0.19943	-1.0290	9	0.87932	D	0	.	3.916	0.09224	0.5069:0.1956:0.2976:0.0	.	952	F5GX59	.	Q	952	ENSP00000441117:R952Q	ENSP00000423579:R2536Q	R	+	2	0	ZAN	100227602	0.000000	0.05858	0.758000	0.31321	0.062000	0.15995	-0.823000	0.04443	-0.473000	0.06871	-0.376000	0.06991	CGG		PASS	0.682	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		29	32	29	32	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100679504	100679504	+	Missense_Mutation	SNP	C	C	G	rs377667267		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:100679504C>G	ENST00000306151.4	+	3	4871	c.4807C>G	c.(4807-4809)Cag>Gag	p.Q1603E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1603	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.Q1603E(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)					CTCCAAAACTCAGGTGACCGC	0.468																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4807-4809)CAG>GAG		mucin 17 precursor		C	GLU/GLN	1,4405	2.1+/-5.4	0,1,2202	200.0	199.0	199.0		4807	-0.6	0.0	7		199	0,8600		0,0,4300	no	missense	MUC17	NM_001040105.1	29	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign	1603/4494	100679504	1,13005	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679504C>G	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.4807C>G	7.37:g.100679504C>G	ENSP00000302716:p.Gln1603Glu					MUC17_uc010lho.1_RNA	p.Q1603E	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4860	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1603			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|25.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4807C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.813	-0.751445	0.03041	2.27E-4	0.0	ENSG00000169876	ENST00000306151	T	0.01933	4.55	0.815	-0.615	0.11587	.	.	.	.	.	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.47983	-0.9074	9	0.06625	T	0.88	.	4.3048	0.10942	0.0:0.5641:0.4359:0.0	.	1603	Q685J3	MUC17_HUMAN	E	1603	ENSP00000302716:Q1603E	ENSP00000302716:Q1603E	Q	+	1	0	MUC17	100466224	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.220000	0.01217	-0.147000	0.11254	0.089000	0.15464	CAG		PASS	0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		126	200	126	200	---	---	---	---
AP1S1	1174	broad.mit.edu	37	7	100800704	100800704	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:100800704G>C	ENST00000337619.5	+	3	347	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	77					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)	p.E77Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					CCAAGACAATGAGCTCATCAC	0.537																																						uc003uxv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(229-231)GAG>CAG		adaptor-related protein complex 1, sigma 1							67.0	71.0	70.0					7																	100800704		2083	4215	6298	SO:0001583	missense	1174				intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity	g.chr7:100800704G>C	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.229G>C	7.37:g.100800704G>C	ENSP00000336666:p.Glu77Gln						p.E77Q	NM_001283	NP_001274	P61966	AP1S1_HUMAN			3	339	+	Lung NSC(181;0.168)|all_lung(186;0.215)		77					B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Missense_Mutation	SNP	ENST00000337619.5	37	c.229G>C	CCDS47669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	5.001794|5.001794	0.93227|0.93227	.|.	.|.	ENSG00000106367|ENSG00000106367	ENST00000337619|ENST00000429457	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	Longin-like (1);AP complex, mu/sigma subunit (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87346|0.87346	0.6154|0.6154	H|H	0.95917|0.95917	3.74|3.74	0.80722|0.80722	D|D	1|1	D|.	0.64830|.	0.994|.	D|.	0.69479|.	0.964|.	D|D	0.91103|0.91103	0.4916|0.4916	9|5	0.87932|.	D|.	0|.	4.63|4.63	15.8269|15.8269	0.78718|0.78718	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	77|.	P61966|.	AP1S1_HUMAN|.	Q|I	77|118	.|.	ENSP00000336666:E77Q|.	E|M	+|+	1|3	0|0	AP1S1|AP1S1	100587424|100587424	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.950000|8.950000	0.93019|0.93019	2.600000|2.600000	0.87896|0.87896	0.561000|0.561000	0.74099|0.74099	GAG|ATG		PASS	0.537	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283		6	12	6	12	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106508547	106508547	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:106508547G>T	ENST00000359195.3	+	2	851	c.541G>T	c.(541-543)Gtg>Ttg	p.V181L	PIK3CG_ENST00000496166.1_Missense_Mutation_p.V181L|PIK3CG_ENST00000440650.2_Missense_Mutation_p.V181L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	181					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V181L(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCGTGGCTTGGTGACCCCGCG	0.652																																						uc003vdv.3																			1	Substitution - Missense(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(541-543)GTG>TTG		phosphoinositide-3-kinase, catalytic, gamma							41.0	47.0	45.0					7																	106508547		2202	4298	6500	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508547G>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.541G>T	7.37:g.106508547G>T	ENSP00000352121:p.Val181Leu					PIK3CG_uc003vdu.2_Missense_Mutation_p.V181L|PIK3CG_uc003vdw.2_Missense_Mutation_p.V181L	p.V181L	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	626	+			181					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.541G>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.862231	0.00552	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.67698	-0.28;-0.28;-0.28	5.33	2.23	0.28157	.	0.262986	0.37715	N	0.001973	T	0.48978	0.1530	N	0.21448	0.665	0.43673	D	0.996109	B	0.06786	0.001	B	0.06405	0.002	T	0.40572	-0.9556	10	0.07990	T	0.79	-14.7302	16.1726	0.81828	0.0:0.3748:0.6252:0.0	.	181	P48736	PK3CG_HUMAN	L	181	ENSP00000392258:V181L;ENSP00000419260:V181L;ENSP00000352121:V181L	ENSP00000352121:V181L	V	+	1	0	PIK3CG	106295783	1.000000	0.71417	0.979000	0.43373	0.128000	0.20619	3.182000	0.50910	0.681000	0.31386	0.467000	0.42956	GTG		PASS	0.652	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			32	52	32	52	---	---	---	---
GPR37	2861	broad.mit.edu	37	7	124386619	124386619	+	Missense_Mutation	SNP	C	C	G	rs199987277		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:124386619C>G	ENST00000303921.2	-	2	2452	c.1802G>C	c.(1801-1803)cGt>cCt	p.R601P		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	601					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)	p.R601P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGACATTTCACGGCGTATGGT	0.438																																						uc003vli.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1801-1803)CGT>CCT		G protein-coupled receptor 37 precursor							175.0	158.0	164.0					7																	124386619		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124386619C>G		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1802G>C	7.37:g.124386619C>G	ENSP00000306449:p.Arg601Pro						p.R601P	NM_005302	NP_005293	O15354	GPR37_HUMAN			2	2453	-			601			Cytoplasmic (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.1802G>C	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389143	0.61956	.	.	ENSG00000170775	ENST00000303921	T	0.75821	-0.97	5.35	5.35	0.76521	.	0.000000	0.52532	D	0.000079	D	0.83801	0.5333	L	0.54323	1.7	0.42909	D	0.994255	D	0.89917	1.0	D	0.75020	0.985	D	0.85532	0.1210	10	0.87932	D	0	-16.3522	18.0541	0.89358	0.0:1.0:0.0:0.0	.	601	O15354	GPR37_HUMAN	P	601	ENSP00000306449:R601P	ENSP00000306449:R601P	R	-	2	0	GPR37	124173855	0.551000	0.26497	0.670000	0.29842	0.876000	0.50452	4.308000	0.59129	2.489000	0.83994	0.655000	0.94253	CGT		PASS	0.438	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		91	120	91	120	---	---	---	---
FSCN3	29999	broad.mit.edu	37	7	127240279	127240279	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:127240279C>T	ENST00000265825.5	+	6	1542	c.1323C>T	c.(1321-1323)tcC>tcT	p.S441S	FSCN3_ENST00000420086.2_Missense_Mutation_p.L306F	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	441						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S441S(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CAATAACATCCTTTGGCACCT	0.557																																						uc003vmd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1321-1323)TCC>TCT		fascin 3							74.0	66.0	69.0					7																	127240279		2203	4300	6503	SO:0001819	synonymous_variant	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127240279C>T		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1323C>T	7.37:g.127240279C>T						FSCN3_uc011koh.1_Missense_Mutation_p.L306F|FSCN3_uc010llc.1_Missense_Mutation_p.L440F	p.S441S	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN			6	1542	+			441					A4D0Z2|A6NLL7|B2RA62|B4DU68	Silent	SNP	ENST00000265825.5	37	c.1323C>T	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	C	2.810	-0.247091	0.05867	.	.	ENSG00000106328	ENST00000420086	T	0.37584	1.19	5.74	3.93	0.45458	.	.	.	.	.	T	0.18341	0.0440	.	.	.	0.19575	N	0.999964	B	0.02656	0.0	B	0.01281	0.0	T	0.21177	-1.0253	8	0.08599	T	0.76	-20.3725	9.285	0.37751	0.0:0.83:0.0:0.17	.	306	B4DU68	.	F	306	ENSP00000412243:L306F	ENSP00000412243:L306F	L	+	1	0	FSCN3	127027515	0.684000	0.27642	1.000000	0.80357	0.866000	0.49608	-0.557000	0.05985	1.418000	0.47098	-0.150000	0.13652	CTT		PASS	0.557	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		36	59	36	59	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128496854	128496854	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:128496854C>A	ENST00000325888.8	+	45	7701	c.7440C>A	c.(7438-7440)gtC>gtA	p.V2480V	FLNC_ENST00000346177.6_Silent_p.V2447V|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2480	Interaction with INPPL1.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.V2480V(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCATCGATGTCAAGTTCAACG	0.597																																						uc003vnz.3																			1	Substitution - coding silent(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(7438-7440)GTC>GTA		gamma filamin isoform a							100.0	104.0	102.0					7																	128496854		2201	4297	6498	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128496854C>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7440C>A	7.37:g.128496854C>A						FLNC_uc003voa.3_Silent_p.V2447V	p.V2480V	NM_001458	NP_001449	Q14315	FLNC_HUMAN			45	7649	+			2480			Filamin 22.|Interaction with INPPL1.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.7440C>A	CCDS43644.1																																																																																				PASS	0.597	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			30	53	30	53	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131895861	131895861	+	Silent	SNP	G	G	C	rs369845177		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:131895861G>C	ENST00000359827.3	-	10	3101	c.2139C>G	c.(2137-2139)ccC>ccG	p.P713P	PLXNA4_ENST00000321063.4_Silent_p.P713P			Q9HCM2	PLXA4_HUMAN	plexin A4	713					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.P713P(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCACCTCCACGGGCACCAGGA	0.617																																						uc003vra.3																			4	Substitution - coding silent(4)		large_intestine(2)|lung(2)	ovary(1)	1						c.(2137-2139)CCC>CCG		plexin A4 isoform 1							21.0	23.0	23.0					7																	131895861		2103	4243	6346	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131895861G>C	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2139C>G	7.37:g.131895861G>C							p.P713P	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			10	2368	-			713			Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.2139C>G	CCDS43646.1																																																																																				PASS	0.617	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		5	8	5	8	---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137076045	137076045	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:137076045T>G	ENST00000288490.5	-	34	3119	c.3119A>C	c.(3118-3120)gAc>gCc	p.D1040A	DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.D1022A|DGKI_ENST00000424189.2_Missense_Mutation_p.D1053A|DGKI_ENST00000453654.2_Missense_Mutation_p.D709A	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1040					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.D1040A(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CAAGTCTGGGTCCCCAGCCTG	0.473																																						uc003vtt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(3118-3120)GAC>GCC		diacylglycerol kinase, iota							111.0	105.0	107.0					7																	137076045		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137076045T>G	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.3119A>C	7.37:g.137076045T>G	ENSP00000288490:p.Asp1040Ala					DGKI_uc003vtu.2_Missense_Mutation_p.D709A	p.D1040A	NM_004717	NP_004708	O75912	DGKI_HUMAN			34	3120	-			1040					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.3119A>C	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	T	19.17	3.776548	0.70107	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.63417	-0.04;-0.04;-0.04	5.92	5.92	0.95590	Ankyrin repeat-containing domain (3);	0.050853	0.85682	D	0.000000	T	0.71056	0.3295	L	0.43923	1.385	0.58432	D	0.999998	D;P	0.55385	0.971;0.854	P;B	0.62435	0.902;0.42	T	0.69636	-0.5092	10	0.39692	T	0.17	.	16.3782	0.83418	0.0:0.0:0.0:1.0	.	709;1040	E9PFX6;O75912	.;DGKI_HUMAN	A	709;957;1043;1040;1022	ENSP00000392161:D709A;ENSP00000288490:D1040A;ENSP00000399131:D1022A	ENSP00000288490:D1040A	D	-	2	0	DGKI	136726585	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.897000	0.69831	2.277000	0.76020	0.528000	0.53228	GAC		PASS	0.473	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		22	117	22	117	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138554322	138554322	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:138554322C>A	ENST00000422774.1	-	14	4785	c.4737G>T	c.(4735-4737)acG>acT	p.T1579T	KIAA1549_ENST00000440172.1_Silent_p.T1579T|KIAA1549_ENST00000242365.4_Silent_p.T1529T			Q9HCM3	K1549_HUMAN	KIAA1549	1579						integral component of membrane (GO:0016021)		p.T1579T(1)|p.T1529T(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCACGCTGGCCGTGGGGTCCA	0.677			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(4735-4737)ACG>ACT		hypothetical protein LOC57670 isoform 1							27.0	32.0	31.0					7																	138554322		2036	4169	6205	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138554322C>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4737G>T	7.37:g.138554322C>A						KIAA1549_uc011kqi.1_Silent_p.T363T|KIAA1549_uc003vuk.3_Silent_p.T1529T|KIAA1549_uc011kqj.1_Silent_p.T1579T|KIAA1549_uc011kqk.1_Silent_p.T363T	p.T1579T	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			14	4786	-			1579					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.4737G>T	CCDS56513.1																																																																																				PASS	0.677	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			6	9	6	9	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138601769	138601769	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:138601769G>A	ENST00000422774.1	-	2	2651	c.2603C>T	c.(2602-2604)cCa>cTa	p.P868L	KIAA1549_ENST00000440172.1_Missense_Mutation_p.P868L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P818L			Q9HCM3	K1549_HUMAN	KIAA1549	868						integral component of membrane (GO:0016021)		p.P818L(1)|p.P868L(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGTGAGTGATGGGCCCACGAC	0.602			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - Missense(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(2602-2604)CCA>CTA		hypothetical protein LOC57670 isoform 1							40.0	46.0	44.0					7																	138601769		2105	4198	6303	SO:0001583	missense	57670					integral to membrane		g.chr7:138601769G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.2603C>T	7.37:g.138601769G>A	ENSP00000416040:p.Pro868Leu					KIAA1549_uc003vuk.3_Missense_Mutation_p.P818L|KIAA1549_uc011kqj.1_Missense_Mutation_p.P868L	p.P868L	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			2	2652	-			868					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.2603C>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573091	0.28092	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.22743	1.94;1.95;1.95	4.26	2.39	0.29439	.	0.860480	0.10047	N	0.722713	T	0.14787	0.0357	N	0.24115	0.695	0.09310	N	1	B;B	0.22414	0.041;0.069	B;B	0.24701	0.025;0.055	T	0.30475	-0.9977	10	0.52906	T	0.07	.	7.0404	0.25017	0.0942:0.1732:0.7325:0.0	.	868;868	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	L	868;818;868	ENSP00000406661:P868L;ENSP00000242365:P818L;ENSP00000416040:P868L	ENSP00000242365:P818L	P	-	2	0	KIAA1549	138252309	0.170000	0.23016	0.000000	0.03702	0.000000	0.00434	3.384000	0.52478	0.421000	0.25980	-0.224000	0.12420	CCA		PASS	0.602	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			7	25	7	25	---	---	---	---
UBN2	254048	broad.mit.edu	37	7	138964076	138964076	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:138964076G>T	ENST00000473989.3	+	13	2037	c.2037G>T	c.(2035-2037)aaG>aaT	p.K679N	UBN2_ENST00000288561.8_Missense_Mutation_p.K596N	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	679						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.K596N(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CAAAGAAAAAGGTGATTCCTG	0.284																																						uc011kqr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2035-2037)AAG>AAT		ubinuclein 2							67.0	65.0	65.0					7																	138964076		1816	4070	5886	SO:0001583	missense	254048							g.chr7:138964076G>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2037G>T	7.37:g.138964076G>T	ENSP00000418648:p.Lys679Asn						p.K679N	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN			13	2037	+			679					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.2037G>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527804	0.64860	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.48201	0.84;0.82	5.67	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.76328	2.33	0.47037	D	0.999292	D	0.76494	0.999	D	0.78314	0.991	T	0.65668	-0.6112	10	0.72032	D	0.01	-11.7651	9.1954	0.37224	0.2823:0.0:0.7177:0.0	.	679	Q6ZU65	UBN2_HUMAN	N	679;596	ENSP00000418648:K679N;ENSP00000288561:K596N	ENSP00000288561:K596N	K	+	3	2	UBN2	138614616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.192000	0.42649	0.777000	0.33496	0.650000	0.86243	AAG		PASS	0.284	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		36	79	36	79	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140449220	140449220	+	Splice_Site	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:140449220T>C	ENST00000288602.6	-	16	1921		c.e16-2			NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase						activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TTCTGGTGCCTGTTAGAACAT	0.328		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.3		61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	1	Unknown(1)		lung(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.e16-1		B-Raf	Sorafenib(DB00398)						90.0	93.0	92.0					7																	140449220		2203	4300	6503	SO:0001630	splice_region_variant	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140449220T>C	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1861-2A>G	7.37:g.140449220T>C							p.A621_splice	NM_004333	NP_004324	P15056	BRAF_HUMAN			16	1922	-	Melanoma(164;0.00956)							A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Splice_Site	SNP	ENST00000288602.6	37	c.1861_splice	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.230455	0.58777	.	.	ENSG00000157764	ENST00000496384;ENST00000288602	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0418	0.64681	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRAF	140095689	1.000000	0.71417	0.996000	0.52242	0.818000	0.46254	7.996000	0.88334	2.116000	0.64780	0.379000	0.24179	.		PASS	0.328	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	Intron	27	67	27	67	---	---	---	---
TRPV6	55503	broad.mit.edu	37	7	142574226	142574227	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:142574226_142574227CC>AG	ENST00000359396.3	-	6	941_942	c.696_697GG>CT	c.(694-699)ctGGac>ctCTac	p.D233Y	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	233					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)	p.D233Y(2)|p.L232L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGCACGAGGTCCAGGGGCTGCA	0.564																																						uc003wbx.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)	2						c.(697-699)GAC>TAC|c.(694-696)CTG>CTC		transient receptor potential cation channel,																																				SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142574226C>A|g.chr7:142574227C>G	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.696_697delinsAG	7.37:g.142574226_142574227delinsAG	ENSP00000352358:p.Asp233Tyr					TRPV6_uc003wbw.1_Missense_Mutation_p.D19Y|TRPV6_uc010lou.1_Missense_Mutation_p.D104Y|TRPV6_uc003wbw.1_Silent_p.L18L|TRPV6_uc010lou.1_Silent_p.L103L	p.D233Y|p.L232L	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			6	913|912	-	Melanoma(164;0.059)		233|232			Cytoplasmic (Potential).		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation|Silent	SNP	ENST00000359396.3	37	c.697G>T|c.696G>C	CCDS5874.1																																																																																				PASS	0.564	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		44|45	58	44	58	---	---	---	---
OR2A14	135941	broad.mit.edu	37	7	143826539	143826539	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:143826539C>T	ENST00000408899.2	+	1	389	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L112L(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CGTAGAGTGTCTGATTTTGGT	0.463																																						uc011kua.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(334-336)CTG>TTG		olfactory receptor, family 2, subfamily A,							262.0	248.0	253.0					7																	143826539		2130	4237	6367	SO:0001819	synonymous_variant	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826539C>T		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.334C>T	7.37:g.143826539C>T							p.L112L	NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN			1	334	+	Melanoma(164;0.0783)		112			Helical; Name=3; (Potential).		Q6IF41|Q8NGT8	Silent	SNP	ENST00000408899.2	37	c.334C>T	CCDS43672.1																																																																																				PASS	0.463	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			110	144	110	144	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146805352	146805352	+	Missense_Mutation	SNP	G	G	C	rs532524611		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:146805352G>C	ENST00000361727.3	+	5	1180	c.664G>C	c.(664-666)Gaa>Caa	p.E222Q		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	222	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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.E222Q(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)			GTCTGAAAGTGAAGGAGTAAT	0.398										HNSCC(39;0.1)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		17175	0.0		0.0	False		,,,				2504	0.0					uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(664-666)GAA>CAA		cell recognition molecule Caspr2 precursor							135.0	124.0	128.0					7																	146805352		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.chr7:146805352G>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.664G>C	7.37:g.146805352G>C	ENSP00000354778:p.Glu222Gln	HNSCC(39;0.1)					p.E222Q	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		5	1180	+	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)	222			Laminin G-like 1.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.664G>C	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876580	0.72180	.	.	ENSG00000174469	ENST00000361727	T	0.79940	-1.32	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.166245	0.37761	N	0.001947	D	0.82370	0.5022	L	0.47016	1.485	0.80722	D	1	P	0.44627	0.839	P	0.48063	0.565	T	0.83204	-0.0077	10	0.72032	D	0.01	.	19.1533	0.93499	0.0:0.0:1.0:0.0	.	222	Q9UHC6	CNTP2_HUMAN	Q	222	ENSP00000354778:E222Q	ENSP00000354778:E222Q	E	+	1	0	CNTNAP2	146436285	1.000000	0.71417	0.992000	0.48379	0.163000	0.22366	6.335000	0.72949	2.868000	0.98415	0.557000	0.71058	GAA		PASS	0.398	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			39	65	39	65	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147259265	147259265	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:147259265C>A	ENST00000361727.3	+	12	2329	c.1813C>A	c.(1813-1815)Cta>Ata	p.L605I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	605	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.L605I(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)			CTACAAACACCTAGGACAGAC	0.438										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1813-1815)CTA>ATA		cell recognition molecule Caspr2 precursor							112.0	106.0	108.0					7																	147259265		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.chr7:147259265C>A	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.1813C>A	7.37:g.147259265C>A	ENSP00000354778:p.Leu605Ile	HNSCC(39;0.1)					p.L605I	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		12	2329	+	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)	605			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1813C>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386680	0.61956	.	.	ENSG00000174469	ENST00000361727	T	0.09255	3.0	5.93	5.05	0.67936	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.125962	0.33553	N	0.004800	T	0.14227	0.0344	L	0.58583	1.82	0.80722	D	1	P	0.49635	0.926	B	0.44315	0.446	T	0.02610	-1.1134	10	0.37606	T	0.19	.	10.8606	0.46825	0.0:0.8481:0.0:0.1519	.	605	Q9UHC6	CNTP2_HUMAN	I	605	ENSP00000354778:L605I	ENSP00000354778:L605I	L	+	1	2	CNTNAP2	146890198	1.000000	0.71417	0.993000	0.49108	0.910000	0.53928	0.941000	0.29005	1.503000	0.48686	0.655000	0.94253	CTA		PASS	0.438	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			33	49	33	49	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147600754	147600754	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:147600754C>A	ENST00000361727.3	+	14	2712	c.2196C>A	c.(2194-2196)atC>atA	p.I732I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	732	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.I732I(2)		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)			CCTGCGGCATCGAACGCAACT	0.572										HNSCC(39;0.1)																												uc003weu.1																			2	Substitution - coding silent(2)	p.I732I(1)	lung(1)|central_nervous_system(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2194-2196)ATC>ATA		cell recognition molecule Caspr2 precursor							80.0	66.0	71.0					7																	147600754		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:147600754C>A	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.2196C>A	7.37:g.147600754C>A		HNSCC(39;0.1)					p.I732I	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		14	2712	+	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)	732			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.2196C>A	CCDS5889.1																																																																																				PASS	0.572	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			19	26	19	26	---	---	---	---
GIMAP8	155038	broad.mit.edu	37	7	150174193	150174193	+	Silent	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:150174193T>A	ENST00000307271.3	+	5	1897	c.1323T>A	c.(1321-1323)atT>atA	p.I441I		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	441	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.I441I(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCCTGAACATTGTCCTTGTGG	0.517																																						uc003whj.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1321-1323)ATT>ATA		GTPase, IMAP family member 8							60.0	64.0	63.0					7																	150174193		2203	4300	6503	SO:0001819	synonymous_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174193T>A	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1323T>A	7.37:g.150174193T>A							p.I441I	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	1653	+			441						Silent	SNP	ENST00000307271.3	37	c.1323T>A	CCDS34777.1																																																																																				PASS	0.517	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		43	76	43	76	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151874731	151874731	+	Nonsense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:151874731T>A	ENST00000262189.6	-	38	8025	c.7807A>T	c.(7807-7809)Aga>Tga	p.R2603*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.R2603*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2603	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R2603*(2)|p.R2603G(2)									TCTGTGTGTCTAGGGCCCGGA	0.552																																						uc003wla.2										N							medulloblastoma		4	Substitution - Missense(2)|Substitution - Nonsense(2)		lung(4)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(7807-7809)AGA>TGA		myeloid/lymphoid or mixed-lineage leukemia 3							106.0	107.0	107.0					7																	151874731		2203	4300	6503	SO:0001587	stop_gained	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151874731T>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7807A>T	7.37:g.151874731T>A	ENSP00000262189:p.Arg2603*					MLL3_uc003wkz.2_Nonsense_Mutation_p.R1664*|MLL3_uc003wky.2_Nonsense_Mutation_p.R112*	p.R2603*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	38	8026	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2603			Pro-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.7807A>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	47|47	13.162774|13.162774	0.99724|0.99724	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	.|.	.|.	.|.	5.9|5.9	3.38|3.38	0.38709|0.38709	.|.	0.000000|.	0.48767|.	D|.	0.000172|.	.|.	.|.	.|.	.|.	.|.	.|.	0.35052|0.35052	D|D	0.760737|0.760737	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.02654|.	T|.	1|.	.|.	12.6333|12.6333	0.56669|0.56669	0.0:0.0:0.393:0.607|0.0:0.0:0.393:0.607	.|.	.|.	.|.	.|.	X|L	2603|108	.|.	ENSP00000262189:R2603X|.	R|X	-|-	1|2	2|0	MLL3|MLL3	151505664|151505664	0.985000|0.985000	0.35326|0.35326	0.083000|0.083000	0.20561|0.20561	0.014000|0.014000	0.08584|0.08584	2.049000|2.049000	0.41288|0.41288	1.043000|1.043000	0.40175|0.40175	0.528000|0.528000	0.53228|0.53228	AGA|TAG		PASS	0.552	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			72	108	72	108	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151878026	151878026	+	Nonsense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:151878026T>A	ENST00000262189.6	-	36	7137	c.6919A>T	c.(6919-6921)Aga>Tga	p.R2307*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.R2307*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2307					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R2307*(2)									GACTGAGATCTTGGAGTCATT	0.517																																						uc003wla.2										N							medulloblastoma		2	Substitution - Nonsense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(6919-6921)AGA>TGA		myeloid/lymphoid or mixed-lineage leukemia 3							106.0	98.0	101.0					7																	151878026		2203	4300	6503	SO:0001587	stop_gained	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151878026T>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6919A>T	7.37:g.151878026T>A	ENSP00000262189:p.Arg2307*					MLL3_uc003wkz.2_Nonsense_Mutation_p.R1368*|MLL3_uc003wky.2_5'Flank	p.R2307*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	36	7138	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2307					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.6919A>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	45	11.801824	0.99604	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.26	1.28	0.21552	.	0.124580	0.35124	N	0.003436	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	13.8132	0.63276	0.0:0.0:0.5197:0.4803	.	.	.	.	X	2307	.	ENSP00000262189:R2307X	R	-	1	2	MLL3	151508959	0.804000	0.28969	0.030000	0.17652	0.048000	0.14542	0.894000	0.28350	0.034000	0.15491	-0.313000	0.08912	AGA		PASS	0.517	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			49	82	49	82	---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154684082	154684082	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:154684082C>A	ENST00000377770.3	+	26	2631	c.2490C>A	c.(2488-2490)agC>agA	p.S830R	DPP6_ENST00000332007.3_Missense_Mutation_p.S768R|DPP6_ENST00000404039.1_Missense_Mutation_p.S766R|DPP6_ENST00000427557.1_Missense_Mutation_p.S723R			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	830					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.S830R(1)|p.S766R(1)|p.S768R(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCAGCTCCAGCCTCAAACAGC	0.532																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|breast(1)	4						c.(2488-2490)AGC>AGA		dipeptidyl-peptidase 6 isoform 1							106.0	113.0	111.0					7																	154684082		2074	4200	6274	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154684082C>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2490C>A	7.37:g.154684082C>A	ENSP00000367001:p.Ser830Arg					DPP6_uc003wli.2_Missense_Mutation_p.S766R|DPP6_uc003wlm.2_Missense_Mutation_p.S768R|DPP6_uc011kvq.1_Missense_Mutation_p.S723R	p.S830R	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		26	2619	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	830			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.2490C>A		.	.	.	.	.	.	.	.	.	.	C	1.230	-0.624255	0.03636	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	4.66	-3.28	0.05033	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.889113	0.09834	N	0.749796	T	0.12774	0.0310	N	0.11064	0.09	0.09310	N	1	B;B;B;B	0.29909	0.0;0.22;0.261;0.261	B;B;B;B	0.33568	0.005;0.104;0.166;0.166	T	0.30179	-0.9987	10	0.24483	T	0.36	-1.3741	2.4345	0.04479	0.192:0.3477:0.2978:0.1624	.	723;768;830;766	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	R	766;830;768;723	ENSP00000385578:S766R;ENSP00000367001:S830R;ENSP00000328226:S768R;ENSP00000397303:S723R	ENSP00000328226:S768R	S	+	3	2	DPP6	154315015	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.243000	0.01194	-0.518000	0.06452	-0.886000	0.02939	AGC		PASS	0.532	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		44	54	44	54	---	---	---	---
NOM1	64434	broad.mit.edu	37	7	156742848	156742848	+	Silent	SNP	G	G	T	rs562970839		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:156742848G>T	ENST00000275820.3	+	1	432	c.417G>T	c.(415-417)tcG>tcT	p.S139S		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	139	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S139S(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GGGACCCCTCGCCTCCCAGGA	0.751													.|||	1	0.000199681	0.0	0.0	5008	,	,		11023	0.0		0.001	False		,,,				2504	0.0					uc003wmy.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(415-417)TCG>TCT		nucleolar protein with MIF4G domain 1							4.0	6.0	5.0					7																	156742848		1896	3874	5770	SO:0001819	synonymous_variant	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156742848G>T	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.417G>T	7.37:g.156742848G>T							p.S139S	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	1	432	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	139			Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		Q96I08	Silent	SNP	ENST00000275820.3	37	c.417G>T	CCDS34787.1																																																																																				PASS	0.751	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		8	8	8	8	---	---	---	---
UBE3C	9690	broad.mit.edu	37	7	156976589	156976589	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:156976589G>C	ENST00000348165.5	+	9	1369	c.1009G>C	c.(1009-1011)Ggg>Cgg	p.G337R	UBE3C_ENST00000389103.4_Missense_Mutation_p.G294R	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	337					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G337R(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CTCTGAGGAAGGGCTGCTGGT	0.468																																						uc010lqs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|large_intestine(1)	5						c.(1009-1011)GGG>CGG		ubiquitin protein ligase E3C							103.0	117.0	113.0					7																	156976589		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156976589G>C	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1009G>C	7.37:g.156976589G>C	ENSP00000309198:p.Gly337Arg					UBE3C_uc003wnf.2_Missense_Mutation_p.G294R|UBE3C_uc003wng.2_Missense_Mutation_p.G337R	p.G337R	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	9	1321	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	337					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.1009G>C	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571500	0.86542	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.43294	0.95	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	0.99;0.999;1.0	P;D;D	0.79108	0.724;0.968;0.992	T	0.56780	-0.7922	10	0.19590	T	0.45	-25.8417	18.6042	0.91261	0.0:0.0:1.0:0.0	.	337;337;294	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	R	337;294	ENSP00000309198:G337R	ENSP00000309198:G337R	G	+	1	0	UBE3C	156669350	1.000000	0.71417	0.959000	0.39883	0.995000	0.86356	8.005000	0.88553	2.388000	0.81334	0.591000	0.81541	GGG		PASS	0.468	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		103	145	103	145	---	---	---	---
PTPRN2	5799	broad.mit.edu	37	7	157903597	157903597	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:157903597G>A	ENST00000389418.4	-	10	1576	c.1567C>T	c.(1567-1569)Ccc>Tcc	p.P523S	PTPRN2_ENST00000389416.4_Missense_Mutation_p.P506S|PTPRN2_ENST00000389413.3_Intron|PTPRN2_ENST00000409483.1_Missense_Mutation_p.P485S|PTPRN2_ENST00000404321.2_Missense_Mutation_p.P546S	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	523					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P523S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCTTCCTCGGGGCGCAGGGGG	0.677																																						uc003wno.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(1567-1569)CCC>TCC		protein tyrosine phosphatase, receptor type, N							25.0	19.0	21.0					7																	157903597		2177	4265	6442	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157903597G>A	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1567C>T	7.37:g.157903597G>A	ENSP00000374069:p.Pro523Ser					PTPRN2_uc003wnp.2_Missense_Mutation_p.P506S|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Missense_Mutation_p.P485S|PTPRN2_uc011kwa.1_Missense_Mutation_p.P546S	p.P523S	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	10	1688	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	523			Extracellular (Potential).		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.1567C>T	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	G	6.969	0.548801	0.13312	.	.	ENSG00000155093	ENST00000409483;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T	0.02863	4.15;4.14;4.15;4.13	4.68	3.72	0.42706	.	1.023730	0.07894	N	0.971632	T	0.04634	0.0126	L	0.29908	0.895	0.23751	N	0.99694	P;B;P;B	0.47191	0.458;0.27;0.891;0.27	B;B;P;B	0.49012	0.185;0.216;0.598;0.281	T	0.29150	-1.0021	10	0.09338	T	0.73	.	13.3955	0.60849	0.0:0.2625:0.7375:0.0	.	546;485;506;523	Q92932-3;E7EM83;E9PC57;Q92932	.;.;.;PTPR2_HUMAN	S	485;506;523;546	ENSP00000387114:P485S;ENSP00000374067:P506S;ENSP00000374069:P523S;ENSP00000385464:P546S	ENSP00000374067:P506S	P	-	1	0	PTPRN2	157596358	0.911000	0.30947	0.877000	0.34402	0.265000	0.26407	1.643000	0.37217	2.320000	0.78422	0.650000	0.86243	CCC		PASS	0.677	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			4	2	4	2	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2057233	2057233	+	Silent	SNP	C	C	A	rs377671524		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:2057233C>A	ENST00000262113.4	+	25	3232	c.3091C>A	c.(3091-3093)Cgg>Agg	p.R1031R	MYOM2_ENST00000523438.1_Silent_p.R456R	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1031					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R1031R(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGATAAGGGGCGGGTTCGCTT	0.443																																						uc003wpx.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3091-3093)CGG>AGG		myomesin 2		C		1,4405	2.1+/-5.4	0,1,2202	73.0	73.0	73.0		3091	5.8	1.0	8		73	0,8600		0,0,4300	no	coding-synonymous	MYOM2	NM_003970.2		0,1,6502	AA,AC,CC		0.0,0.0227,0.0077		1031/1466	2057233	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2057233C>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3091C>A	8.37:g.2057233C>A						MYOM2_uc011kwi.1_Silent_p.R456R	p.R1031R	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	25	3229	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1031					Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.3091C>A	CCDS5957.1																																																																																				PASS	0.443	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		3	60	3	60	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2855586	2855586	+	Missense_Mutation	SNP	C	C	A	rs577452625		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:2855586C>A	ENST00000520002.1	-	55	8882	c.8327G>T	c.(8326-8328)cGa>cTa	p.R2776L	CSMD1_ENST00000537824.1_Missense_Mutation_p.R2775L|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2718L|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2718L|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2717L|CSMD1_ENST00000602557.1_Missense_Mutation_p.R2776L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2776	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.R2504L(1)|p.R2775L(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACACTGGGCTCGAGACACGCC	0.552																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(8326-8328)CGA>CTA		CUB and Sushi multiple domains 1 precursor							81.0	81.0	81.0					8																	2855586		2047	4203	6250	SO:0001583	missense	64478					integral to membrane		g.chr8:2855586C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8327G>T	8.37:g.2855586C>A	ENSP00000430733:p.Arg2776Leu					CSMD1_uc011kwj.1_Missense_Mutation_p.R2105L|CSMD1_uc010lrg.2_Missense_Mutation_p.R786L	p.R2776L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	54	8717	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2776			Extracellular (Potential).|Sushi 19.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8327G>T		.	.	.	.	.	.	.	.	.	.	C	8.940	0.965502	0.18583	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	6.07	5.2	0.72013	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000005	T	0.52041	0.1710	N	0.25957	0.775	0.18873	N	0.999989	P;B;B	0.41041	0.736;0.039;0.057	P;B;B	0.45099	0.469;0.075;0.025	T	0.44711	-0.9310	10	0.30854	T	0.27	.	9.5953	0.39569	0.0:0.7923:0.0:0.2077	.	2776;2776;2717	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	L	2718;2776;2637;2775;2717	ENSP00000383047:R2718L;ENSP00000430733:R2776L;ENSP00000441462:R2775L;ENSP00000446243:R2717L	ENSP00000320445:R2637L	R	-	2	0	CSMD1	2842993	0.215000	0.23574	0.006000	0.13384	0.372000	0.29890	1.630000	0.37081	1.578000	0.49821	0.655000	0.94253	CGA		PASS	0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		26	17	26	17	---	---	---	---
SLC35G5	83650	broad.mit.edu	37	8	11189423	11189423	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:11189423G>T	ENST00000382435.4	+	1	1027	c.808G>T	c.(808-810)Gtg>Ttg	p.V270L		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	270						integral component of membrane (GO:0016021)		p.V270L(1)									CTTCACATGTGTGGGCTATGC	0.587																																						uc003wtp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(808-810)GTG>TTG		acyl-malonyl condensing enzyme							113.0	111.0	112.0					8																	11189423		2203	4300	6503	SO:0001583	missense	83650					integral to membrane		g.chr8:11189423G>T	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.808G>T	8.37:g.11189423G>T	ENSP00000371872:p.Val270Leu						p.V270L	NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)	1	929	+			270			Helical; (Potential).		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.808G>T	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	G	8.563	0.878181	0.17395	.	.	ENSG00000177710	ENST00000382435	T	0.46063	0.88	.	.	.	.	0.174452	0.26731	N	0.022800	T	0.30198	0.0757	L	0.52573	1.65	0.33087	D	0.537386	B	0.24768	0.111	B	0.27380	0.079	T	0.26121	-1.0112	9	0.18276	T	0.48	-4.9319	5.8679	0.18786	8.0E-4:0.0:0.9992:0.0	.	270	Q96KT7	S35G5_HUMAN	L	270	ENSP00000371872:V270L	ENSP00000371872:V270L	V	+	1	0	SLC35G5	11226833	0.411000	0.25384	0.077000	0.20336	0.078000	0.17371	2.133000	0.42093	0.088000	0.17205	0.089000	0.15464	GTG		PASS	0.587	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		92	77	92	77	---	---	---	---
INTS10	55174	broad.mit.edu	37	8	19700402	19700402	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:19700402G>A	ENST00000397977.3	+	14	2081	c.1683G>A	c.(1681-1683)atG>atA	p.M561I		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	561					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.M561I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGGCTATCATGCCATACTGCC	0.353																																						uc003wzj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1681-1683)ATG>ATA		integrator complex subunit 10							154.0	143.0	146.0					8																	19700402		1870	4128	5998	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19700402G>A	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1683G>A	8.37:g.19700402G>A	ENSP00000381064:p.Met561Ile						p.M561I	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	14	1814	+			561					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.1683G>A	CCDS6011.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.01|16.01	3.002735|3.002735	0.54254|0.54254	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000520670|ENST00000397977	.|T	.|0.44083	.|0.93	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.044625	.|0.85682	.|D	.|0.000000	T|T	0.34745|0.34745	0.0908|0.0908	L|L	0.34521|0.34521	1.04|1.04	0.43421|0.43421	D|D	0.995574|0.995574	.|B	.|0.20780	.|0.048	.|B	.|0.19391	.|0.025	T|T	0.08722|0.08722	-1.0708|-1.0708	5|9	.|.	.|.	.|.	-23.6603|-23.6603	17.7168|17.7168	0.88340|0.88340	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|561	.|Q9NVR2	.|INT10_HUMAN	Y|I	51|561	.|ENSP00000381064:M561I	.|.	C|M	+|+	2|3	0|0	INTS10|INTS10	19744682|19744682	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	5.850000|5.850000	0.69473|0.69473	2.512000|2.512000	0.84698|0.84698	0.655000|0.655000	0.94253|0.94253	TGC|ATG		PASS	0.353	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		55	40	55	40	---	---	---	---
SLC18A1	6570	broad.mit.edu	37	8	20008219	20008219	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:20008219A>G	ENST00000276373.5	-	11	1318	c.1052T>C	c.(1051-1053)aTt>aCt	p.I351T	SLC18A1_ENST00000265808.7_Missense_Mutation_p.I319T|SLC18A1_ENST00000437980.1_Missense_Mutation_p.I351T|SLC18A1_ENST00000440926.1_Missense_Mutation_p.I351T|SLC18A1_ENST00000381608.4_Missense_Mutation_p.I351T|SLC18A1_ENST00000519026.1_Missense_Mutation_p.I319T	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	351					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.I351T(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	GTTGGTGCCAATGAGGTAGGA	0.498																																						uc011kyq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1051-1053)ATT>ACT		solute carrier family 18 (vesicular monoamine),							193.0	161.0	172.0					8																	20008219		2203	4300	6503	SO:0001583	missense	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20008219A>G		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1052T>C	8.37:g.20008219A>G	ENSP00000276373:p.Ile351Thr					SLC18A1_uc003wzl.2_Missense_Mutation_p.I138T|SLC18A1_uc003wzm.2_Missense_Mutation_p.I351T|SLC18A1_uc011kyr.1_Missense_Mutation_p.I351T|SLC18A1_uc003wzn.2_Missense_Mutation_p.I319T|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Missense_Mutation_p.I319T	p.I351T	NM_001135691	NP_001129163	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	12	1523	-			351			Helical; (Potential).		E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	c.1052T>C	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.608773	0.66558	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608	T;D;D;D;T;D	0.82803	0.18;-1.65;-1.65;-1.65;0.18;-1.65	5.61	5.61	0.85477	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.143804	0.64402	D	0.000011	D	0.91385	0.7282	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.987;0.999;0.999	D	0.92600	0.6090	10	0.87932	D	0	-21.7903	14.6323	0.68666	1.0:0.0:0.0:0.0	.	351;319;351	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	T	319;351;351;351;319;351	ENSP00000265808:I319T;ENSP00000276373:I351T;ENSP00000387549:I351T;ENSP00000413361:I351T;ENSP00000429664:I319T;ENSP00000371021:I351T	ENSP00000265808:I319T	I	-	2	0	SLC18A1	20052499	1.000000	0.71417	0.988000	0.46212	0.441000	0.31987	8.641000	0.91032	2.134000	0.65973	0.379000	0.24179	ATT		PASS	0.498	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			54	35	54	35	---	---	---	---
EBF2	64641	broad.mit.edu	37	8	25766020	25766020	+	Silent	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:25766020T>A	ENST00000520164.1	-	7	1140	c.603A>T	c.(601-603)gcA>gcT	p.A201A	EBF2_ENST00000408929.3_Silent_p.A53A	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	201	Interaction with DNA. {ECO:0000250}.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A201A(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGGGTTTCCTGCTGTTTTCA	0.368																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(1)	4						c.(601-603)GCA>GCT		early B-cell factor 2							84.0	84.0	84.0					8																	25766020		1830	4097	5927	SO:0001819	synonymous_variant	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25766020T>A	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.603A>T	8.37:g.25766020T>A						PPP2R2A_uc003xek.2_Intron	p.A201A	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	7	620	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	201			Interaction with DNA (By similarity).		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Silent	SNP	ENST00000520164.1	37	c.603A>T	CCDS43726.1																																																																																				PASS	0.368	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		19	10	19	10	---	---	---	---
KIF13B	23303	broad.mit.edu	37	8	29053708	29053708	+	Missense_Mutation	SNP	G	G	A	rs200573525	byFrequency	TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:29053708G>A	ENST00000524189.1	-	3	196	c.158C>T	c.(157-159)cCg>cTg	p.P53L	KIF13B_ENST00000521515.1_Missense_Mutation_p.P53L	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	53	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.P53L(1)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TCTTACCTTCGGCTGGCCCCT	0.318																																						uc003xhh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)CCG>CTG		kinesin family member 13B							44.0	41.0	42.0					8																	29053708		1832	4084	5916	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29053708G>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.158C>T	8.37:g.29053708G>A	ENSP00000427900:p.Pro53Leu					KIF13B_uc003xhj.2_Intron|KIF13B_uc010lvf.1_5'UTR|KIF13B_uc003xhk.2_Intron	p.P53L	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	3	217	-		Ovarian(32;0.000536)	53			Kinesin-motor.		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.158C>T	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923542	0.33908	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.74737	-0.87;-0.87	5.13	5.13	0.70059	.	.	.	.	.	T	0.71367	0.3331	L	0.58354	1.805	0.80722	D	1	B	0.18013	0.025	B	0.13407	0.009	T	0.66701	-0.5857	9	0.39692	T	0.17	.	15.9526	0.79855	0.0:0.0:1.0:0.0	.	53	F8VPJ2	.	L	53	ENSP00000427900:P53L;ENSP00000429201:P53L	ENSP00000429201:P53L	P	-	2	0	KIF13B	29109627	1.000000	0.71417	1.000000	0.80357	0.259000	0.26198	4.815000	0.62634	2.824000	0.97209	0.655000	0.94253	CCG		PASS	0.318	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			3	6	3	6	---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39495194	39495194	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:39495194C>A	ENST00000265707.5	+	9	844	c.799C>A	c.(799-801)Cgg>Agg	p.R267R	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.R243R	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	267	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R267R(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TCTCATCCTACGGCCCCATGA	0.343																																						uc003xni.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.(799-801)CGG>AGG		a disintegrin and metalloprotease domain 18							105.0	99.0	101.0					8																	39495194		2203	4300	6503	SO:0001819	synonymous_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39495194C>A	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.799C>A	8.37:g.39495194C>A						ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Silent_p.R243R	p.R267R	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		9	799	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	267			Peptidase M12B.|Extracellular (Potential).		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Silent	SNP	ENST00000265707.5	37	c.799C>A	CCDS6113.1																																																																																				PASS	0.343	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		21	191	21	191	---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39495196	39495196	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:39495196G>A	ENST00000265707.5	+	9	846	c.801G>A	c.(799-801)cgG>cgA	p.R267R	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.R243R	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	267	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R267R(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TCATCCTACGGCCCCATGACA	0.348																																						uc003xni.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.(799-801)CGG>CGA		a disintegrin and metalloprotease domain 18							100.0	95.0	97.0					8																	39495196		2203	4300	6503	SO:0001819	synonymous_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39495196G>A	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.801G>A	8.37:g.39495196G>A						ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Silent_p.R243R	p.R267R	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		9	801	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	267			Peptidase M12B.|Extracellular (Potential).		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Silent	SNP	ENST00000265707.5	37	c.801G>A	CCDS6113.1																																																																																				PASS	0.348	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		21	189	21	189	---	---	---	---
CHRNB3	1142	broad.mit.edu	37	8	42587211	42587211	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:42587211T>A	ENST00000289957.2	+	5	889	c.761T>A	c.(760-762)gTg>gAg	p.V254E		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	254					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)	p.V254E(1)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	ACAGTTCTTGTGTTCTATTTA	0.428																																						uc003xpi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(760-762)GTG>GAG		cholinergic receptor, nicotinic, beta							87.0	91.0	90.0					8																	42587211		2203	4300	6503	SO:0001583	missense	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42587211T>A	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.761T>A	8.37:g.42587211T>A	ENSP00000289957:p.Val254Glu						p.V254E	NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	889	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	254			Helical; (Potential).		Q15827	Missense_Mutation	SNP	ENST00000289957.2	37	c.761T>A	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	t	25.0	4.590497	0.86851	.	.	ENSG00000147432	ENST00000289957	T	0.73789	-0.78	5.72	5.72	0.89469	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90366	0.6985	H	0.95504	3.68	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.93160	0.6557	10	0.87932	D	0	.	16.0509	0.80763	0.0:0.0:0.0:1.0	.	254	Q05901	ACHB3_HUMAN	E	254	ENSP00000289957:V254E	ENSP00000289957:V254E	V	+	2	0	CHRNB3	42706368	1.000000	0.71417	0.978000	0.43139	0.937000	0.57800	8.040000	0.89188	2.188000	0.69820	0.456000	0.33151	GTG		PASS	0.428	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			23	134	23	134	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55534029	55534029	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:55534029G>A	ENST00000220676.1	+	2	651	c.503G>A	c.(502-504)cGt>cAt	p.R168H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	168	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.		R -> G. {ECO:0000269|PubMed:11527933}.		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.R168H(1)		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)			AAGACGAGGCGTGCGGTTCTT	0.652																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(502-504)CGT>CAT		retinitis pigmentosa RP1 protein							93.0	93.0	93.0					8																	55534029		2203	4300	6503	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.chr8:55534029G>A	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.503G>A	8.37:g.55534029G>A	ENSP00000220676:p.Arg168His					RP1_uc011ldy.1_Missense_Mutation_p.R168H	p.R168H	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)		2	651	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	168			Doublecortin 2.			Missense_Mutation	SNP	ENST00000220676.1	37	c.503G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464825	0.26335	.	.	ENSG00000104237	ENST00000220676	D	0.86865	-2.18	5.14	1.83	0.25207	Doublecortin domain (4);	0.505375	0.18473	N	0.140150	T	0.76535	0.4001	L	0.31065	0.9	0.09310	N	1	B	0.22211	0.066	B	0.11329	0.006	T	0.58651	-0.7599	10	0.17369	T	0.5	0.2468	10.241	0.43312	0.3084:0.0:0.6916:0.0	.	168	P56715	RP1_HUMAN	H	168	ENSP00000220676:R168H	ENSP00000220676:R168H	R	+	2	0	RP1	55696582	0.997000	0.39634	0.000000	0.03702	0.002000	0.02628	2.826000	0.48104	0.551000	0.29008	0.650000	0.86243	CGT		PASS	0.652	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		96	69	96	69	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55540535	55540535	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:55540535G>T	ENST00000220676.1	+	4	4241	c.4093G>T	c.(4093-4095)Ggt>Tgt	p.G1365C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1365					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.G1365C(1)		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)			GTTAGAAAGAGGTGATGACAT	0.328																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(4093-4095)GGT>TGT		retinitis pigmentosa RP1 protein							61.0	66.0	64.0					8																	55540535		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.chr8:55540535G>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.4093G>T	8.37:g.55540535G>T	ENSP00000220676:p.Gly1365Cys					RP1_uc011ldy.1_Intron	p.G1365C	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	4241	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1365						Missense_Mutation	SNP	ENST00000220676.1	37	c.4093G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	7.639	0.680439	0.14907	.	.	ENSG00000104237	ENST00000220676	T	0.20598	2.06	5.61	0.138	0.14793	.	1.782380	0.02908	N	0.136331	T	0.11580	0.0282	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.30060	-0.9991	10	0.72032	D	0.01	.	4.1457	0.10215	0.3664:0.0:0.3862:0.2475	.	1365	P56715	RP1_HUMAN	C	1365	ENSP00000220676:G1365C	ENSP00000220676:G1365C	G	+	1	0	RP1	55703088	0.000000	0.05858	0.000000	0.03702	0.229000	0.25112	0.551000	0.23361	0.062000	0.16340	-0.136000	0.14681	GGT		PASS	0.328	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		56	36	56	36	---	---	---	---
MOS	4342	broad.mit.edu	37	8	57025720	57025720	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:57025720G>A	ENST00000311923.1	-	1	821	c.822C>T	c.(820-822)acC>acT	p.T274T		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.T274T(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCGCCTGCTTGGTAGTCATTT	0.622																																					Esophageal Squamous(124;373 2870 4778)	uc011leb.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(820-822)ACC>ACT		v-mos Moloney murine sarcoma viral oncogene							48.0	48.0	48.0					8																	57025720		2203	4300	6503	SO:0001819	synonymous_variant	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57025720G>A		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.822C>T	8.37:g.57025720G>A							p.T274T	NM_005372	NP_005363	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	822	-			274			Protein kinase.		Q3KPG9|Q3KPH0	Silent	SNP	ENST00000311923.1	37	c.822C>T	CCDS6164.1																																																																																				PASS	0.622	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		14	61	14	61	---	---	---	---
MOS	4342	broad.mit.edu	37	8	57025733	57025733	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:57025733C>G	ENST00000311923.1	-	1	808	c.809G>C	c.(808-810)tGg>tCg	p.W270S		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.W270S(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AGTCATTTGCCAGAGAGTGAT	0.617																																					Esophageal Squamous(124;373 2870 4778)	uc011leb.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(808-810)TGG>TCG		v-mos Moloney murine sarcoma viral oncogene							53.0	53.0	53.0					8																	57025733		2203	4300	6503	SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57025733C>G		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.809G>C	8.37:g.57025733C>G	ENSP00000310722:p.Trp270Ser						p.W270S	NM_005372	NP_005363	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	809	-			270			Protein kinase.		Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	c.809G>C	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186556	0.78789	.	.	ENSG00000172680	ENST00000311923	D	0.93712	-3.27	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96858	0.8974	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96859	0.9631	10	0.87932	D	0	.	20.0537	0.97638	0.0:1.0:0.0:0.0	.	270	P00540	MOS_HUMAN	S	270	ENSP00000310722:W270S	ENSP00000310722:W270S	W	-	2	0	MOS	57188287	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	7.336000	0.79245	2.758000	0.94735	0.561000	0.74099	TGG		PASS	0.617	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		16	67	16	67	---	---	---	---
MOS	4342	broad.mit.edu	37	8	57026206	57026206	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:57026206C>A	ENST00000311923.1	-	1	335	c.336G>T	c.(334-336)ctG>ctT	p.L112L		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	112	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.L112L(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			TATCGTGGCGCAGCCTTGCTA	0.592																																					Esophageal Squamous(124;373 2870 4778)	uc011leb.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(334-336)CTG>CTT		v-mos Moloney murine sarcoma viral oncogene							105.0	96.0	99.0					8																	57026206		2203	4300	6503	SO:0001819	synonymous_variant	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57026206C>A		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.336G>T	8.37:g.57026206C>A							p.L112L	NM_005372	NP_005363	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	336	-			112			Protein kinase.		Q3KPG9|Q3KPH0	Silent	SNP	ENST00000311923.1	37	c.336G>T	CCDS6164.1																																																																																				PASS	0.592	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		41	146	41	146	---	---	---	---
CYP7A1	1581	broad.mit.edu	37	8	59410832	59410832	+	Nonsense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:59410832T>A	ENST00000301645.3	-	2	414	c.277A>T	c.(277-279)Aaa>Taa	p.K93*		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	93					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.K93*(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TCAAAATATTTTCCGTGGCAC	0.343									Neonatal Giant Cell Hepatitis																													uc003xtm.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(277-279)AAA>TAA		cytochrome P450, family 7, subfamily A,							102.0	108.0	106.0					8																	59410832		2203	4300	6503	SO:0001587	stop_gained	1581	Neonatal_Giant_Cell_Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59410832T>A	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.277A>T	8.37:g.59410832T>A	ENSP00000301645:p.Lys93*						p.K93*	NM_000780	NP_000771	P22680	CP7A1_HUMAN			2	340	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	93					P78454|Q3MIL8|Q7KZ19	Nonsense_Mutation	SNP	ENST00000301645.3	37	c.277A>T	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	T	37	6.404948	0.97542	.	.	ENSG00000167910	ENST00000301645	.	.	.	5.74	5.74	0.90152	.	0.087328	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.5579	11.9661	0.53035	0.0:0.0:0.1446:0.8553	.	.	.	.	X	93	.	ENSP00000301645:K93X	K	-	1	0	CYP7A1	59573386	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.009000	0.57110	2.193000	0.70182	0.482000	0.46254	AAA		PASS	0.343	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		87	49	87	49	---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59514042	59514042	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:59514042G>C	ENST00000038176.3	-	15	1390	c.1178C>G	c.(1177-1179)tCt>tGt	p.S393C	NSMAF_ENST00000427130.2_Missense_Mutation_p.S424C|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	393	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.S393C(1)|p.S424C(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				ACCCGGGGAAGAGTAGTGACT	0.343																																						uc003xtt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1177-1179)TCT>TGT		neutral sphingomyelinase (N-SMase) activation							57.0	60.0	59.0					8																	59514042		2203	4300	6503	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59514042G>C	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1178C>G	8.37:g.59514042G>C	ENSP00000038176:p.Ser393Cys					NSMAF_uc011lee.1_Missense_Mutation_p.S424C|NSMAF_uc003xtu.2_Missense_Mutation_p.S393C	p.S393C	NM_003580	NP_003571	Q92636	FAN_HUMAN			15	1392	-		all_lung(136;0.174)|Lung NSC(129;0.2)	393			BEACH.		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.1178C>G	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674258	0.88445	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.70869	-0.52;-0.52	5.71	5.71	0.89125	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.91737	0.7387	H	0.99074	4.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.94813	0.7980	9	.	.	.	.	19.8772	0.96880	0.0:0.0:1.0:0.0	.	424;393;393	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	C	393;424	ENSP00000038176:S393C;ENSP00000411012:S424C	.	S	-	2	0	NSMAF	59676596	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.799000	0.99117	2.686000	0.91538	0.650000	0.86243	TCT		PASS	0.343	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		10	43	10	43	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61757513	61757513	+	Silent	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:61757513G>C	ENST00000423902.2	+	22	5420	c.4941G>C	c.(4939-4941)ctG>ctC	p.L1647L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1647					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.L1647L(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAACCATCCTGGTGTACTGTC	0.488																																						uc003xue.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(4939-4941)CTG>CTC		chromodomain helicase DNA binding protein 7							116.0	115.0	115.0					8																	61757513		1967	4164	6131	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61757513G>C	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4941G>C	8.37:g.61757513G>C							p.L1647L	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		22	5418	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1647					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.4941G>C	CCDS47865.1																																																																																				PASS	0.488	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		44	153	44	153	---	---	---	---
TTPA	7274	broad.mit.edu	37	8	63978502	63978502	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:63978502G>C	ENST00000260116.4	-	3	544	c.513C>G	c.(511-513)atC>atG	p.I171M	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	171	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)	p.I171M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	CGGATGGAGTGATTTGAAAAG	0.373																																						uc003xux.1																			1	Substitution - Missense(1)		lung(1)		0						c.(511-513)ATC>ATG		tocopherol (alpha) transfer protein	Vitamin E(DB00163)						120.0	107.0	111.0					8																	63978502		2203	4300	6503	SO:0001583	missense	7274				lipid metabolic process		transporter activity|vitamin E binding	g.chr8:63978502G>C	BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.513C>G	8.37:g.63978502G>C	ENSP00000260116:p.Ile171Met						p.I171M	NM_000370	NP_000361	P49638	TTPA_HUMAN			3	545	-	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)	171			CRAL-TRIO.		Q71V64	Missense_Mutation	SNP	ENST00000260116.4	37	c.513C>G	CCDS6178.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093393	0.36952	.	.	ENSG00000137561	ENST00000260116	D	0.84589	-1.87	5.54	0.349	0.16032	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.092799	0.64402	N	0.000001	T	0.72819	0.3508	L	0.36672	1.1	0.42650	D	0.993441	B	0.22683	0.073	B	0.25506	0.061	T	0.56463	-0.7975	10	0.26408	T	0.33	.	4.3676	0.11232	0.2363:0.4113:0.3524:0.0	.	171	P49638	TTPA_HUMAN	M	171	ENSP00000260116:I171M	ENSP00000260116:I171M	I	-	3	3	TTPA	64141056	1.000000	0.71417	0.983000	0.44433	0.968000	0.65278	1.171000	0.31896	0.066000	0.16515	-0.302000	0.09304	ATC		PASS	0.373	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378460.1	NM_000370		19	60	19	60	---	---	---	---
C8orf34	116328	broad.mit.edu	37	8	69358584	69358584	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:69358584G>T	ENST00000539993.1	+	3	787	c.238G>T	c.(238-240)Gat>Tat	p.D80Y	C8orf34_ENST00000337103.4_Missense_Mutation_p.D55Y|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000523686.1_Missense_Mutation_p.D80Y|C8orf34_ENST00000348340.2_Missense_Mutation_p.D80Y|C8orf34_ENST00000518698.1_Missense_Mutation_p.D166Y			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	80								p.D80Y(1)|p.D55Y(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AACAAGAAGGGATTTCAGAAG	0.338																																						uc010lyz.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(238-240)GAT>TAT		hypothetical protein LOC116328							90.0	94.0	93.0					8																	69358584		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69358584G>T	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.238G>T	8.37:g.69358584G>T	ENSP00000438159:p.Asp80Tyr					C8orf34_uc010lyx.1_Missense_Mutation_p.D80Y|C8orf34_uc010lyy.1_Missense_Mutation_p.D80Y|C8orf34_uc003xyb.2_Missense_Mutation_p.D55Y	p.D80Y	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		3	287	+			80					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.238G>T		.	.	.	.	.	.	.	.	.	.	G	26.6	4.753427	0.89753	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000523686;ENST00000348340;ENST00000337103	T;T;T	0.52983	0.64;0.68;0.65	6.02	6.02	0.97574	.	0.049729	0.85682	D	0.000000	T	0.65893	0.2735	L	0.51422	1.61	0.58432	D	0.999998	D;D;D	0.89917	0.997;1.0;0.997	D;D;D	0.91635	0.91;0.999;0.912	T	0.59166	-0.7505	9	.	.	.	-12.8432	20.5407	0.99260	0.0:0.0:1.0:0.0	.	80;80;80	Q49A92;Q49A92-3;Q49A92-5	CH034_HUMAN;.;.	Y	166;80;80;80;55	ENSP00000427820:D166Y;ENSP00000438159:D80Y;ENSP00000337174:D55Y	.	D	+	1	0	C8orf34	69521138	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.345000	0.97053	2.865000	0.98341	0.655000	0.94253	GAT		PASS	0.338	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		28	115	28	115	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70515555	70515555	+	Splice_Site	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:70515555G>T	ENST00000260128.4	+	11	1907	c.1190G>T	c.(1189-1191)aGg>aTg	p.R397M	SULF1_ENST00000458141.2_Splice_Site_p.R397M|SULF1_ENST00000419716.3_Splice_Site_p.R397M|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Splice_Site_p.R397M	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	397					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.R397M(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CCAGGTAACAGGTGTGTCATT	0.562																																						uc010lza.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(1189-1191)AGG>ATG		sulfatase 1 precursor							140.0	125.0	130.0					8																	70515555		2203	4300	6503	SO:0001630	splice_region_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70515555G>T	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1190+1G>T	8.37:g.70515555G>T						SULF1_uc003xyd.2_Missense_Mutation_p.R397M|SULF1_uc003xye.2_Missense_Mutation_p.R397M|SULF1_uc003xyf.2_Missense_Mutation_p.R397M|SULF1_uc003xyg.2_Missense_Mutation_p.R397M|SULF1_uc003xyh.1_RNA	p.R397M	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		11	1907	+	Breast(64;0.0654)		397					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1190G>T	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	32	5.187605	0.94923	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42	6.17	6.17	0.99709	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.081736	0.85682	D	0.000000	D	0.98422	0.9475	M	0.78223	2.4	0.80722	D	1	D	0.61697	0.99	D	0.67103	0.949	D	0.98662	1.0684	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	397	Q8IWU6	SULF1_HUMAN	M	397	ENSP00000403040:R397M;ENSP00000260128:R397M;ENSP00000385704:R397M;ENSP00000390315:R397M	ENSP00000260128:R397M	R	+	2	0	SULF1	70678109	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	AGG		PASS	0.562	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170	Missense_Mutation	20	121	20	121	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767035	77767035	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:77767035G>A	ENST00000521891.2	+	10	8326	c.7878G>A	c.(7876-7878)ctG>ctA	p.L2626L	ZFHX4_ENST00000518282.1_Silent_p.L2600L|ZFHX4_ENST00000050961.6_Silent_p.L2581L|ZFHX4_ENST00000455469.2_Silent_p.L2581L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2581					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L2610L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATACTTGCTGGATTCCAATC	0.483										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7741-7743)CTG>CTA		zinc finger homeodomain 4							40.0	39.0	40.0					8																	77767035		1862	4093	5955	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767035G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7878G>A	8.37:g.77767035G>A		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.L2626L|ZFHX4_uc003yaw.1_Silent_p.L2581L	p.L2581L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8130	+			2581			Homeobox 3.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7743G>A	CCDS47878.2																																																																																				PASS	0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		34	26	34	26	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767965	77767965	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:77767965G>A	ENST00000521891.2	+	10	9256	c.8808G>A	c.(8806-8808)atG>atA	p.M2936I	ZFHX4_ENST00000518282.1_Missense_Mutation_p.M2910I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.M2891I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.M2891I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2891					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.M2920I(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAACGCAAATGAGCAATCTTC	0.473										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8671-8673)ATG>ATA		zinc finger homeodomain 4							72.0	69.0	70.0					8																	77767965		1944	4137	6081	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767965G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8808G>A	8.37:g.77767965G>A	ENSP00000430497:p.Met2936Ile	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.M2936I|ZFHX4_uc003yaw.1_Missense_Mutation_p.M2891I	p.M2891I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9060	+			2891			Homeobox 4.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8673G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948058	0.53186	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8	5.19	5.19	0.71726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.53938	U	0.000049	D	0.94265	0.8158	N	0.04787	-0.16	0.80722	D	1	P;P;P	0.51653	0.84;0.807;0.947	D;P;D	0.68192	0.939;0.899;0.956	D	0.94467	0.7681	10	0.35671	T	0.21	.	18.8924	0.92410	0.0:0.0:1.0:0.0	.	2891;2891;2936	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	I	2936;2920;2891;2891;2910	ENSP00000430497:M2936I;ENSP00000399605:M2891I;ENSP00000050961:M2891I;ENSP00000430848:M2910I	ENSP00000050961:M2891I	M	+	3	0	ZFHX4	77930520	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	9.657000	0.98554	2.696000	0.92011	0.655000	0.94253	ATG		PASS	0.473	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		10	66	10	66	---	---	---	---
PSKH2	85481	broad.mit.edu	37	8	87081736	87081736	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:87081736G>C	ENST00000276616.2	-	1	190	c.116C>G	c.(115-117)gCg>gGg	p.A39G	PSKH2_ENST00000517981.1_Intron	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	39							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A39G(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CGCCTGGGCCGCCGCCTCGGG	0.701																																						uc011lfy.1																			1	Substitution - Missense(1)		lung(1)	stomach(2)|lung(2)|ovary(1)	5						c.(115-117)GCG>GGG		protein serine kinase H2							7.0	11.0	10.0					8																	87081736		2027	4030	6057	SO:0001583	missense	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87081736G>C	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.116C>G	8.37:g.87081736G>C	ENSP00000276616:p.Ala39Gly						p.A39G	NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		1	116	-			39					A0AV22	Missense_Mutation	SNP	ENST00000276616.2	37	c.116C>G	CCDS6240.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857510	0.51376	.	.	ENSG00000147613	ENST00000276616	T	0.70399	-0.48	4.75	0.637	0.17735	.	.	.	.	.	T	0.48502	0.1503	N	0.19112	0.55	0.09310	N	1	P	0.35401	0.499	B	0.32149	0.141	T	0.25950	-1.0117	9	0.23891	T	0.37	.	6.4958	0.22142	0.5069:0.0:0.4931:0.0	.	39	Q96QS6	KPSH2_HUMAN	G	39	ENSP00000276616:A39G	ENSP00000276616:A39G	A	-	2	0	PSKH2	87150852	0.000000	0.05858	0.000000	0.03702	0.711000	0.40976	0.251000	0.18257	-0.082000	0.12640	0.467000	0.42956	GCG		PASS	0.701	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		8	26	8	26	---	---	---	---
SLC7A13	157724	broad.mit.edu	37	8	87226736	87226736	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:87226736A>G	ENST00000297524.3	-	4	1422	c.1319T>C	c.(1318-1320)aTa>aCa	p.I440T	SLC7A13_ENST00000419776.2_3'UTR|CTD-3118D11.3_ENST00000523112.1_RNA	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	440						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.I440T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TTTAAAATGTATTAAAGGTAT	0.358																																						uc003ydq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1318-1320)ATA>ACA		solute carrier family 7, (cationic amino acid							57.0	61.0	60.0					8																	87226736		2203	4300	6503	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87226736A>G	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1319T>C	8.37:g.87226736A>G	ENSP00000297524:p.Ile440Thr					SLC7A13_uc003ydr.1_3'UTR	p.I440T	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			4	1417	-			440			Helical; Name=12; (Potential).		Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.1319T>C	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	A	3.362	-0.130178	0.06753	.	.	ENSG00000164893	ENST00000297524	D	0.89343	-2.5	4.3	3.14	0.36123	.	0.953673	0.08653	N	0.913664	T	0.78496	0.4292	N	0.08118	0	0.18873	N	0.999987	B	0.14805	0.011	B	0.10450	0.005	T	0.67833	-0.5568	10	0.87932	D	0	.	8.1987	0.31411	0.9:0.0:0.1:0.0	.	440	Q8TCU3	S7A13_HUMAN	T	440	ENSP00000297524:I440T	ENSP00000297524:I440T	I	-	2	0	SLC7A13	87295852	0.312000	0.24545	0.001000	0.08648	0.044000	0.14063	2.346000	0.44027	0.768000	0.33290	0.533000	0.62120	ATA		PASS	0.358	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		12	41	12	41	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87591433	87591433	+	Missense_Mutation	SNP	G	G	A	rs201093395		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:87591433G>A	ENST00000320005.5	-	16	1876	c.1829C>T	c.(1828-1830)gCc>gTc	p.A610V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	610					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.A610V(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAACCCGTGGGCCACCACATT	0.458																																						uc003ydx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1828-1830)GCC>GTC		cyclic nucleotide gated channel beta 3		G	VAL/ALA	0,4406		0,0,2203	134.0	146.0	142.0		1829	5.7	1.0	8		142	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNGB3	NM_019098.4	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	610/810	87591433	1,13005	2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87591433G>A	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1829C>T	8.37:g.87591433G>A	ENSP00000316605:p.Ala610Val					CNGB3_uc010maj.2_Missense_Mutation_p.A467V	p.A610V	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			16	1875	-			610			Cytoplasmic (Potential).|cGMP (By similarity).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.1829C>T	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055137	0.93793	0.0	1.16E-4	ENSG00000170289	ENST00000517327;ENST00000320005	D;D	0.98493	-2.12;-4.96	5.71	5.71	0.89125	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.062438	0.64402	D	0.000007	D	0.98940	0.9640	M	0.83384	2.64	0.80722	D	1	D;D	0.56287	0.969;0.975	P;D	0.63877	0.868;0.919	D	0.99771	1.1024	10	0.87932	D	0	.	19.8534	0.96748	0.0:0.0:1.0:0.0	.	605;610	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	V	1;610	ENSP00000428329:A1V;ENSP00000316605:A610V	ENSP00000316605:A610V	A	-	2	0	CNGB3	87660549	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.961000	0.87903	2.711000	0.92665	0.563000	0.77884	GCC		PASS	0.458	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		145	308	145	308	---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	93017356	93017356	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:93017356C>A	ENST00000523629.1	-	6	1182	c.728G>T	c.(727-729)cGa>cTa	p.R243L	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R206L|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R206L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R216L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R206L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R254L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R206L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R243L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R216L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	243					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R206Q(1)|p.R254Q(1)|p.R243L(1)|p.R243Q(1)|p.R254L(1)|p.R206L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTCTGGAGTTCGCCTCTTCCC	0.522																																						uc003yfd.2																			6	Substitution - Missense(6)		lung(6)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(727-729)CGA>CTA		acute myelogenous leukemia 1 translocation 1							175.0	160.0	165.0					8																	93017356		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93017356C>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.728G>T	8.37:g.93017356C>A	ENSP00000428543:p.Arg243Leu					RUNX1T1_uc003yfc.1_Missense_Mutation_p.R216L|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R206L|RUNX1T1_uc010mao.2_Missense_Mutation_p.R216L|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R254L|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R206L|RUNX1T1_uc003yff.1_Missense_Mutation_p.R206L	p.R243L	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		5	812	-			243					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.728G>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	35	5.452668	0.96223	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553	T;T;T;T;T;T;T;T;T	0.48836	1.32;1.33;1.32;1.34;1.34;1.34;1.31;1.33;0.8	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	M	0.76574	2.34	0.80722	D	1	P;P;P	0.52842	0.771;0.956;0.937	P;P;P	0.59761	0.483;0.621;0.863	T	0.69888	-0.5023	10	0.66056	D	0.02	-7.4492	19.7501	0.96265	0.0:1.0:0.0:0.0	.	254;243;216	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	L	243;216;243;206;206;206;254;216;206	ENSP00000428543:R243L;ENSP00000379520:R216L;ENSP00000265814:R243L;ENSP00000353504:R206L;ENSP00000390137:R206L;ENSP00000428742:R206L;ENSP00000402257:R254L;ENSP00000430728:R216L;ENSP00000429728:R206L	ENSP00000265814:R243L	R	-	2	0	RUNX1T1	93086532	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.086000	0.71352	2.672000	0.90937	0.655000	0.94253	CGA		PASS	0.522	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		43	129	43	129	---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95501056	95501056	+	Silent	SNP	T	T	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:95501056T>G	ENST00000297591.5	-	24	5392	c.5317A>C	c.(5317-5319)Aga>Cga	p.R1773R	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1773					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R1773R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CCACGACCTCTAGAAGCACGG	0.468																																						uc003ygo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(5317-5319)AGA>CGA		hypothetical protein LOC25962 isoform 1							130.0	112.0	118.0					8																	95501056		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95501056T>G	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.5317A>C	8.37:g.95501056T>G						KIAA1429_uc010maz.1_RNA	p.R1773R	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		24	5330	-	Breast(36;3.29e-05)		1773					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.5317A>C	CCDS34923.1																																																																																				PASS	0.468	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		30	67	30	67	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106456566	106456566	+	Missense_Mutation	SNP	A	A	C	rs200972094		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:106456566A>C	ENST00000407775.2	+	3	508	c.258A>C	c.(256-258)aaA>aaC	p.K86N	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	86					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.K86N(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGTCAGAGAAACCGGGGCAAC	0.443																																						uc003ymd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(256-258)AAA>AAC		zinc finger protein, multitype 2							79.0	84.0	83.0					8																	106456566		1930	4143	6073	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106456566A>C	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.258A>C	8.37:g.106456566A>C	ENSP00000384179:p.Lys86Asn						p.K86N	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		3	281	+			86					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.258A>C	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.035188	0.75617	.	.	ENSG00000169946	ENST00000407775	T	0.20598	2.06	5.87	0.825	0.18824	.	0.088933	0.41605	D	0.000842	T	0.14874	0.0359	L	0.34521	1.04	0.80722	D	1	B	0.17852	0.024	B	0.15052	0.012	T	0.07214	-1.0784	10	0.72032	D	0.01	.	9.4475	0.38706	0.7219:0.0:0.2781:0.0	.	86	Q8WW38	FOG2_HUMAN	N	86	ENSP00000384179:K86N	ENSP00000384179:K86N	K	+	3	2	ZFPM2	106525742	0.997000	0.39634	0.997000	0.53966	0.960000	0.62799	0.993000	0.29680	-0.021000	0.14009	-0.250000	0.11733	AAA		PASS	0.443	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			16	6	16	6	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110498988	110498988	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:110498988A>G	ENST00000378402.5	+	59	9922	c.9818A>G	c.(9817-9819)gAg>gGg	p.E3273G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3273					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.E3275G(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTTGGTCTGAGGACTCTTTT	0.418										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(9817-9819)GAG>GGG		fibrocystin L precursor							234.0	231.0	232.0					8																	110498988		1941	4130	6071	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110498988A>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9818A>G	8.37:g.110498988A>G	ENSP00000367655:p.Glu3273Gly	HNSCC(38;0.096)					p.E3273G	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		59	9922	+			3273			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.9818A>G	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	4.265	0.048338	0.08243	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.84516	-1.86;-1.86	5.42	4.27	0.50696	Pectin lyase fold/virulence factor (1);	0.632492	0.16264	N	0.222087	T	0.71533	0.3351	N	0.12887	0.27	0.09310	N	1	B	0.22983	0.078	B	0.26094	0.066	T	0.57487	-0.7803	10	0.21540	T	0.41	.	9.5201	0.39129	0.916:0.0:0.084:0.0	.	3273	Q86WI1	PKHL1_HUMAN	G	3273;201	ENSP00000367655:E3273G;ENSP00000437376:E201G	ENSP00000367655:E3273G	E	+	2	0	PKHD1L1	110568164	0.001000	0.12720	0.581000	0.28614	0.022000	0.10575	0.896000	0.28377	1.008000	0.39264	0.460000	0.39030	GAG		PASS	0.418	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		67	210	67	210	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113353710	113353710	+	Nonsense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:113353710G>C	ENST00000297405.5	-	42	6892	c.6648C>G	c.(6646-6648)taC>taG	p.Y2216*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Y2146*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Y2112*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Y2176*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2216	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y2216*(1)|p.Y2176*(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						TCTTACCTTGGTATACAATAT	0.299										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Nonsense(2)		lung(2)	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.(6646-6648)TAC>TAG		CUB and Sushi multiple domains 3 isoform 1							72.0	71.0	71.0					8																	113353710		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113353710G>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.6648C>G	8.37:g.113353710G>C	ENSP00000297405:p.Tyr2216*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.Y1418*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.Y2176*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.Y2112*	p.Y2216*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			42	6807	-			2216			Extracellular (Potential).|CUB 12.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.6648C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	47	13.117186	0.99721	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.56	1.42	0.22433	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9633	0.24610	0.5391:0.0:0.4609:0.0	.	.	.	.	X	2176;2216;1486;2112;2146	.	ENSP00000297405:Y2216X	Y	-	3	2	CSMD3	113422886	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	1.112000	0.31172	0.501000	0.28013	0.655000	0.94253	TAC		PASS	0.299	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		32	15	32	15	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113562923	113562923	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:113562923G>T	ENST00000297405.5	-	27	4785	c.4541C>A	c.(4540-4542)tCt>tAt	p.S1514Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.S1514Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1410Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1474Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1514	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1474Y(1)|p.S1514Y(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						TGCAAATCCAGATTTGCTAAT	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	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.(4540-4542)TCT>TAT		CUB and Sushi multiple domains 3 isoform 1							48.0	52.0	51.0					8																	113562923		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113562923G>T	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.4541C>A	8.37:g.113562923G>T	ENSP00000297405:p.Ser1514Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.S786Y|CSMD3_uc003ynt.2_Missense_Mutation_p.S1474Y|CSMD3_uc011lhx.1_Missense_Mutation_p.S1410Y	p.S1514Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			27	4700	-			1514			Extracellular (Potential).|CUB 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4541C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981963	0.34942	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	4.36	2.48	0.30137	CUB (5);	0.000000	0.64402	D	0.000001	T	0.41696	0.1170	M	0.74647	2.275	0.29304	N	0.868503	D;D;D	0.76494	0.999;0.999;0.979	D;D;P	0.73708	0.968;0.981;0.81	T	0.31833	-0.9929	10	0.66056	D	0.02	.	9.4661	0.38813	0.0798:0.144:0.7762:0.0	.	1410;1514;1474	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	1474;1514;854;1410;1514	ENSP00000345799:S1474Y;ENSP00000297405:S1514Y;ENSP00000341558:S854Y;ENSP00000412263:S1410Y;ENSP00000343124:S1514Y	ENSP00000297405:S1514Y	S	-	2	0	CSMD3	113632099	1.000000	0.71417	0.996000	0.52242	0.075000	0.17131	9.601000	0.98297	0.535000	0.28714	-0.229000	0.12294	TCT		PASS	0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		54	15	54	15	---	---	---	---
COL14A1	7373	broad.mit.edu	37	8	121293237	121293237	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:121293237A>T	ENST00000297848.3	+	31	4033	c.3763A>T	c.(3763-3765)Acc>Tcc	p.T1255S	COL14A1_ENST00000309791.4_Missense_Mutation_p.T1255S|COL14A1_ENST00000247781.3_Missense_Mutation_p.T1160S	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.T1255S(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)			GGAGCCTGGTACCTTCAATGT	0.358																																						uc003yox.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(3763-3765)ACC>TCC		collagen, type XIV, alpha 1 precursor							93.0	97.0	96.0					8																	121293237		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.chr8:121293237A>T		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.3763A>T	8.37:g.121293237A>T	ENSP00000297848:p.Thr1255Ser					COL14A1_uc003yoz.2_Missense_Mutation_p.T220S	p.T1255S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		31	4028	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1255			Nonhelical region (NC4).|TSP N-terminal.			Missense_Mutation	SNP	ENST00000297848.3	37	c.3763A>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	A	2.382	-0.341824	0.05243	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.01933	4.55;4.55;4.55	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.094378	0.64402	D	0.000001	T	0.02119	0.0066	N	0.21142	0.635	0.80722	D	1	P	0.43750	0.816	B	0.40741	0.339	T	0.53158	-0.8478	10	0.02654	T	1	.	16.3155	0.82918	1.0:0.0:0.0:0.0	.	1255	Q05707	COEA1_HUMAN	S	1255;1255;1160	ENSP00000311809:T1255S;ENSP00000297848:T1255S;ENSP00000247781:T1160S	ENSP00000247781:T1160S	T	+	1	0	COL14A1	121362418	0.996000	0.38824	0.998000	0.56505	0.358000	0.29455	3.418000	0.52721	2.260000	0.74910	0.528000	0.53228	ACC		PASS	0.358	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		19	66	19	66	---	---	---	---
TOP1MT	116447	broad.mit.edu	37	8	144406793	144406793	+	Silent	SNP	C	C	T	rs545179228		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:144406793C>T	ENST00000329245.4	-	6	712	c.678G>A	c.(676-678)tcG>tcA	p.S226S	TOP1MT_ENST00000523676.1_Silent_p.S128S|TOP1MT_ENST00000521193.1_Silent_p.S128S|TOP1MT_ENST00000519148.1_Silent_p.S128S	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	226					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)	p.S226S(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CGGGGATCTTCGAGTCCCTGC	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19783	0.0		0.0	False		,,,				2504	0.0					uc003yxz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(676-678)TCG>TCA		mitochondrial topoisomerase I precursor	Irinotecan(DB00762)|Topotecan(DB01030)						76.0	82.0	80.0					8																	144406793		2203	4300	6503	SO:0001819	synonymous_variant	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144406793C>T	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.678G>A	8.37:g.144406793C>T						TOP1MT_uc011lkd.1_Silent_p.S128S|TOP1MT_uc011lke.1_Silent_p.S128S|TOP1MT_uc010mfb.2_Silent_p.S128S|TOP1MT_uc011lkf.1_Silent_p.S21S|TOP1MT_uc010mfd.1_Silent_p.S21S	p.S226S	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		6	697	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		226					B7ZAR5|E7ES89|Q86ST4|Q86V82	Silent	SNP	ENST00000329245.4	37	c.678G>A	CCDS6400.1																																																																																				PASS	0.587	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		40	230	40	230	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144994835	144994835	+	Missense_Mutation	SNP	C	C	A	rs375732878		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:144994835C>A	ENST00000322810.4	-	32	9734	c.9565G>T	c.(9565-9567)Gac>Tac	p.D3189Y	PLEC_ENST00000357649.2_Missense_Mutation_p.D3056Y|PLEC_ENST00000436759.2_Missense_Mutation_p.D3079Y|PLEC_ENST00000354958.2_Missense_Mutation_p.D3030Y|PLEC_ENST00000527096.1_Missense_Mutation_p.D3075Y|PLEC_ENST00000398774.2_Missense_Mutation_p.D3020Y|PLEC_ENST00000354589.3_Missense_Mutation_p.D3052Y|PLEC_ENST00000345136.3_Missense_Mutation_p.D3052Y|PLEC_ENST00000356346.3_Missense_Mutation_p.D3038Y	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3189	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.D3189Y(1)|p.D3079Y(1)|p.D3052Y(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGGCCATGTCGGATGGCAGC	0.667																																						uc003zaf.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(9565-9567)GAC>TAC		plectin isoform 1							27.0	32.0	30.0					8																	144994835		2075	4179	6254	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144994835C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9565G>T	8.37:g.144994835C>A	ENSP00000323856:p.Asp3189Tyr					PLEC_uc003zab.1_Missense_Mutation_p.D3052Y|PLEC_uc003zac.1_Missense_Mutation_p.D3056Y|PLEC_uc003zad.2_Missense_Mutation_p.D3052Y|PLEC_uc003zae.1_Missense_Mutation_p.D3020Y|PLEC_uc003zag.1_Missense_Mutation_p.D3030Y|PLEC_uc003zah.2_Missense_Mutation_p.D3038Y|PLEC_uc003zaj.2_Missense_Mutation_p.D3079Y	p.D3189Y	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	9735	-			3189			Globular 2.|Plectin 7.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.9565G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	4.228	0.041145	0.08196	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	4.21	4.21	0.49690	.	0.184882	0.31531	U	0.007491	T	0.62636	0.2444	N	0.08118	0	0.30060	N	0.810995	P;P;P;P;P;P;P;P	0.36535	0.502;0.502;0.502;0.557;0.502;0.502;0.502;0.502	B;B;B;B;B;B;B;B	0.42916	0.28;0.324;0.324;0.402;0.324;0.28;0.28;0.28	T	0.68573	-0.5373	10	0.62326	D	0.03	.	15.7136	0.77649	0.0:1.0:0.0:0.0	.	3079;3038;3030;3189;3020;3052;3056;3052	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Y	3052;3056;3052;3020;3189;3030;3038;3079;3075	ENSP00000344848:D3052Y;ENSP00000350277:D3056Y;ENSP00000346602:D3052Y;ENSP00000381756:D3020Y;ENSP00000323856:D3189Y;ENSP00000347044:D3030Y;ENSP00000348702:D3038Y;ENSP00000388180:D3079Y;ENSP00000434583:D3075Y	ENSP00000323856:D3189Y	D	-	1	0	PLEC	145066823	0.812000	0.29077	0.008000	0.14137	0.015000	0.08874	3.941000	0.56607	2.054000	0.61138	0.448000	0.29417	GAC		PASS	0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		16	86	16	86	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144996841	144996841	+	Missense_Mutation	SNP	C	C	A	rs554586153		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:144996841C>A	ENST00000322810.4	-	31	7836	c.7667G>T	c.(7666-7668)cGc>cTc	p.R2556L	PLEC_ENST00000357649.2_Missense_Mutation_p.R2423L|PLEC_ENST00000436759.2_Missense_Mutation_p.R2446L|PLEC_ENST00000354958.2_Missense_Mutation_p.R2397L|PLEC_ENST00000527096.1_Missense_Mutation_p.R2442L|PLEC_ENST00000398774.2_Missense_Mutation_p.R2387L|PLEC_ENST00000354589.3_Missense_Mutation_p.R2419L|PLEC_ENST00000345136.3_Missense_Mutation_p.R2419L|PLEC_ENST00000356346.3_Missense_Mutation_p.R2405L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2556	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.R2419L(1)|p.R2556L(1)|p.R2446L(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GAGCTCCGTGCGGTGCAGCTT	0.672																																						uc003zaf.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(7666-7668)CGC>CTC		plectin isoform 1							34.0	38.0	37.0					8																	144996841		2182	4274	6456	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144996841C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7667G>T	8.37:g.144996841C>A	ENSP00000323856:p.Arg2556Leu					PLEC_uc003zab.1_Missense_Mutation_p.R2419L|PLEC_uc003zac.1_Missense_Mutation_p.R2423L|PLEC_uc003zad.2_Missense_Mutation_p.R2419L|PLEC_uc003zae.1_Missense_Mutation_p.R2387L|PLEC_uc003zag.1_Missense_Mutation_p.R2397L|PLEC_uc003zah.2_Missense_Mutation_p.R2405L|PLEC_uc003zaj.2_Missense_Mutation_p.R2446L	p.R2556L	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	7837	-			2556			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.7667G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142642	0.37825	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79653	-1.25;-1.26;-1.29;-1.29;-1.27;-1.25;-1.25;-1.25;-1.26	4.29	3.4	0.38934	.	0.629324	0.14102	U	0.341325	T	0.64204	0.2577	N	0.22421	0.69	0.27482	N	0.95256	B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B	0.08055	0.003;0.003;0.003;0.001;0.003;0.003;0.003;0.003	T	0.53165	-0.8477	10	0.40728	T	0.16	.	3.0726	0.06236	0.2237:0.5546:0.0:0.2217	.	2446;2405;2397;2556;2387;2419;2423;2419	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	2419;2423;2419;2387;2556;2397;2405;2446;2442	ENSP00000344848:R2419L;ENSP00000350277:R2423L;ENSP00000346602:R2419L;ENSP00000381756:R2387L;ENSP00000323856:R2556L;ENSP00000347044:R2397L;ENSP00000348702:R2405L;ENSP00000388180:R2446L;ENSP00000434583:R2442L	ENSP00000323856:R2556L	R	-	2	0	PLEC	145068829	0.613000	0.27009	0.979000	0.43373	0.950000	0.60333	0.836000	0.27545	1.004000	0.39156	0.549000	0.68633	CGC		PASS	0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		13	50	13	50	---	---	---	---
SLC52A2	79581	broad.mit.edu	37	8	145584561	145584561	+	Silent	SNP	C	C	T	rs371456902		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr8:145584561C>T	ENST00000532887.1	+	5	1807	c.1224C>T	c.(1222-1224)gcC>gcT	p.A408A	SLC52A2_ENST00000540505.1_Silent_p.A320A|SLC52A2_ENST00000527078.1_Silent_p.A408A|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000526752.1_Missense_Mutation_p.R77W|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000530047.1_Silent_p.A408A|SLC52A2_ENST00000402965.1_Silent_p.A408A|SLC52A2_ENST00000329994.2_Silent_p.A408A			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	408					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)	p.A408A(1)								Gamma Hydroxybutyric Acid(DB01440)	TGCTGGCAGCCGGCGTGGCCA	0.642																																						uc003zcc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1222-1224)GCC>GCT		G protein-coupled receptor 172A precursor		C		0,4406		0,0,2203	76.0	71.0	72.0		1224	-10.5	0.0	8		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR172A	NM_024531.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		408/446	145584561	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145584561C>T	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.1224C>T	8.37:g.145584561C>T						FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Silent_p.A408A|GPR172A_uc003zce.1_Silent_p.A408A|GPR172A_uc010mfy.1_Silent_p.A408A|GPR172A_uc003zcf.1_Silent_p.A408A|GPR172A_uc011llc.1_Silent_p.A320A	p.A408A	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		5	1381	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		408			Helical; (Potential).		A8K6B6|D3DWL8|G1UCY1|Q86UT1	Silent	SNP	ENST00000532887.1	37	c.1224C>T	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511950	0.27036	0.0	1.16E-4	ENSG00000185803	ENST00000526752	D	0.90004	-2.6	5.25	-10.5	0.00291	.	.	.	.	.	D	0.86426	0.5930	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.82571	-0.0391	6	0.62326	D	0.03	.	7.5257	0.27653	0.193:0.4218:0.0:0.3852	.	.	.	.	W	77	ENSP00000433796:R77W	ENSP00000433796:R77W	R	+	1	2	GPR172A	145555369	0.338000	0.24775	0.006000	0.13384	0.214000	0.24535	-0.340000	0.07821	-1.364000	0.02161	-1.780000	0.00649	CGG		PASS	0.642	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		29	114	29	114	---	---	---	---
KIAA2026	158358	broad.mit.edu	37	9	5920586	5920586	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr9:5920586T>C	ENST00000399933.3	-	8	5409	c.5410A>G	c.(5410-5412)Aat>Gat	p.N1804D	KIAA2026_ENST00000381461.2_Missense_Mutation_p.N1774D	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1804								p.N979D(1)|p.N1804D(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGAGGTTTATTTGTGTTTACA	0.383																																						uc003zjq.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(5410-5412)AAT>GAT		hypothetical protein LOC158358							412.0	397.0	402.0					9																	5920586		1889	4113	6002	SO:0001583	missense	158358							g.chr9:5920586T>C	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.5410A>G	9.37:g.5920586T>C	ENSP00000382815:p.Asn1804Asp					KIAA2026_uc010mht.2_Missense_Mutation_p.N979D	p.N1804D	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	5626	-		Acute lymphoblastic leukemia(23;0.158)	1804					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.5410A>G		.	.	.	.	.	.	.	.	.	.	T	5.844	0.339911	0.11069	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.88	4.74	0.60224	.	0.308595	0.29838	N	0.011076	T	0.37100	0.0991	M	0.65975	2.015	0.23673	N	0.99714	P	0.35272	0.493	B	0.32805	0.153	T	0.28933	-1.0028	9	0.31617	T	0.26	-8.0986	7.6265	0.28216	0.0:0.0771:0.2507:0.6722	.	1804	Q5HYC2	K2026_HUMAN	D	1804;1774	.	ENSP00000370870:N1774D	N	-	1	0	KIAA2026	5910586	0.920000	0.31207	0.998000	0.56505	0.162000	0.22319	0.995000	0.29706	1.054000	0.40438	-0.263000	0.10527	AAT		PASS	0.383	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		276	142	276	142	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14851542	14851542	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr9:14851542C>T	ENST00000380880.3	-	6	1675	c.892G>A	c.(892-894)Gca>Aca	p.A298T	FREM1_ENST00000380881.4_Missense_Mutation_p.A299T|RNU6-1260P_ENST00000362944.1_RNA|FREM1_ENST00000422223.2_Missense_Mutation_p.A298T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	298					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.A299T(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCCATGAATGCAGCCTTTGGA	0.438																																						uc003zlm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(892-894)GCA>ACA		FRAS1 related extracellular matrix 1 precursor							118.0	118.0	118.0					9																	14851542		1937	4139	6076	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14851542C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.892G>A	9.37:g.14851542C>T	ENSP00000370262:p.Ala298Thr					FREM1_uc010mic.2_RNA	p.A298T	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	6	1482	-			298			CSPG 1.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.892G>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756899	0.69648	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.11385	2.78;2.78;2.78	6.11	6.11	0.99139	.	0.211026	0.50627	D	0.000120	T	0.15435	0.0372	M	0.61703	1.905	0.35669	D	0.813149	B	0.30937	0.301	B	0.34242	0.178	T	0.07290	-1.0780	10	0.33141	T	0.24	-19.9849	13.8713	0.63622	0.0:0.9308:0.0:0.0692	.	298	Q5H8C1	FREM1_HUMAN	T	299;298;298	ENSP00000370263:A299T;ENSP00000412940:A298T;ENSP00000370262:A298T	ENSP00000370257:A301T	A	-	1	0	FREM1	14841542	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	1.976000	0.40579	2.906000	0.99361	0.655000	0.94253	GCA		PASS	0.438	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		59	37	59	37	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971006	21971006	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr9:21971006C>G	ENST00000304494.5	-	2	622	c.352G>C	c.(352-354)Gct>Cct	p.A118P	CDKN2A_ENST00000579755.1_Missense_Mutation_p.G132A|CDKN2A_ENST00000497750.1_Missense_Mutation_p.A67P|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G132A|CDKN2A_ENST00000494262.1_Missense_Mutation_p.A67P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.A118P|CDKN2A_ENST00000498124.1_Missense_Mutation_p.A118P|CDKN2A_ENST00000579122.1_Missense_Mutation_p.A118P|CDKN2A_ENST00000498628.2_Missense_Mutation_p.A67P|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G173A|CDKN2A_ENST00000479692.2_Missense_Mutation_p.A67P|CDKN2A_ENST00000578845.2_Missense_Mutation_p.A67P	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	118			A -> T (in CMM2). {ECO:0000269|PubMed:9328469}.		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.A118P(2)|p.0(1)|p.A118fs*10(1)|p.G173A(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)		AGCTCCTCAGCCAGGTCCACG	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1364	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(3)|Deletion - Frameshift(1)	p.0?(1112)|p.?(13)|p.A118fs*10(1)|p.A118V(1)|p.A118fs*27(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(168)|lung(148)|urinary_tract(91)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(50)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|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	CI034362|CM970253	CDKN2A	I|M		c.(352-354)GCT>CCT		cyclin-dependent kinase inhibitor 2A isoform 1							23.0	25.0	25.0					9																	21971006		2201	4298	6499	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.chr9:21971006C>G	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.352G>C	9.37:g.21971006C>G	ENSP00000307101:p.Ala118Pro	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.G173A	p.A118P	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	564	-		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)	118		A -> T (in CMM2).	ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.352G>C	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.599164|4.599164	0.87055|0.87055	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	D;D|D;T	0.82255|0.82893	-1.59;-1.59|-1.66;-1.48	5.93|5.93	5.93|5.93	0.95920|0.95920	Ankyrin repeat-containing domain (4);|.	.|0.237328	.|0.22334	.|N	.|0.061424	D|D	0.84741|0.84741	0.5539|0.5539	L|L	0.29908|0.29908	0.895|0.895	0.40581|0.40581	D|D	0.981395|0.981395	D|D	0.89917|0.61697	1.0|0.99	D|P	0.85130|0.55923	0.997|0.787	D|D	0.86390|0.86390	0.1735|0.1735	9|10	0.87932|0.87932	D|D	0|0	-6.9281|-6.9281	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	118|173	P42771|Q8N726	CD2A1_HUMAN|CD2A2_HUMAN	P|A	118|173;132	ENSP00000307101:A118P;ENSP00000394932:A118P|ENSP00000355153:G173A;ENSP00000432664:G132A	ENSP00000307101:A118P|ENSP00000355153:G173A	A|G	-|-	1|2	0|0	CDKN2A|CDKN2A	21961006|21961006	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	6.844000|6.844000	0.75390|0.75390	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GCT|GGC		PASS	0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		31	14	31	14	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79952371	79952371	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr9:79952371G>T	ENST00000360280.3	+	47	6556	c.6296G>T	c.(6295-6297)tGg>tTg	p.W2099L	VPS13A_ENST00000376636.3_Missense_Mutation_p.W2060L|VPS13A_ENST00000376634.4_Missense_Mutation_p.W2099L|VPS13A_ENST00000357409.5_Missense_Mutation_p.W2099L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2099					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.W2099L(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAAGATGGTTGGGATTTACCA	0.328																																						uc004akr.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(6295-6297)TGG>TTG		vacuolar protein sorting 13A isoform A							89.0	92.0	91.0					9																	79952371		2203	4299	6502	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79952371G>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6296G>T	9.37:g.79952371G>T	ENSP00000353422:p.Trp2099Leu					VPS13A_uc004akp.3_Missense_Mutation_p.W2099L|VPS13A_uc004akq.3_Missense_Mutation_p.W2099L|VPS13A_uc004aks.2_Missense_Mutation_p.W2060L|VPS13A_uc004akt.2_Missense_Mutation_p.W439L	p.W2099L	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			47	6556	+			2099					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.6296G>T	CCDS6655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.90|15.90	2.969882|2.969882	0.53614|0.53614	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000419472|ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.|T;T;T;T	.|0.41400	.|1.17;1.0;1.08;1.17	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.127901	.|0.56097	.|D	.|0.000026	T|T	0.62563|0.62563	0.2438|0.2438	M|M	0.81341|0.81341	2.54|2.54	0.80722|0.80722	D|D	1|1	.|D;B;P;P;P	.|0.58268	.|0.982;0.049;0.807;0.936;0.878	.|P;B;B;P;B	.|0.61592	.|0.891;0.061;0.344;0.595;0.441	T|T	0.59156|0.59156	-0.7507|-0.7507	5|10	.|0.09843	.|T	.|0.71	.|.	19.4991|19.4991	0.95086|0.95086	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|351;2060;2099;2099;2099	.|B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.|.;.;VP13A_HUMAN;.;.	W|L	352|2099;2060;2099;2099	.|ENSP00000365821:W2099L;ENSP00000365823:W2060L;ENSP00000353422:W2099L;ENSP00000349985:W2099L	.|ENSP00000349985:W2099L	G|W	+|+	1|2	0|0	VPS13A|VPS13A	79142191|79142191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.500000|4.500000	0.60387|0.60387	2.620000|2.620000	0.88729|0.88729	0.650000|0.650000	0.86243|0.86243	GGG|TGG		PASS	0.328	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		42	17	42	17	---	---	---	---
GNA14	9630	broad.mit.edu	37	9	80144079	80144079	+	Missense_Mutation	SNP	G	G	A	rs45466295	byFrequency	TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr9:80144079G>A	ENST00000341700.6	-	2	728	c.215C>T	c.(214-216)aCg>aTg	p.T72M	RP11-466A17.1_ENST00000439145.1_RNA	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	72					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.T72M(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						AACCAGCTTCGTGAACCCCTT	0.448													G|||	3	0.000599042	0.0	0.0	5008	,	,		21135	0.0		0.0	False		,,,				2504	0.0031					uc004aku.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(214-216)ACG>ATG		G alpha 14		G	MET/THR	6,4400	11.4+/-27.6	0,6,2197	375.0	337.0	350.0		215	5.9	1.0	9	dbSNP_127	350	12,8588	9.8+/-36.6	0,12,4288	yes	missense	GNA14	NM_004297.3	81	0,18,6485	AA,AG,GG		0.1395,0.1362,0.1384	probably-damaging	72/356	80144079	18,12988	2203	4300	6503	SO:0001583	missense	9630				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr9:80144079G>A	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.215C>T	9.37:g.80144079G>A	ENSP00000365807:p.Thr72Met						p.T72M	NM_004297	NP_004288	O95837	GNA14_HUMAN			2	738	-			72					B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	c.215C>T	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968001	0.74131	0.001362	0.001395	ENSG00000156049	ENST00000341700	D	0.89123	-2.47	5.92	5.92	0.95590	G protein alpha subunit, helical insertion (2);	0.102410	0.64402	D	0.000002	D	0.92747	0.7694	M	0.62209	1.925	0.47123	D	0.999329	D	0.59767	0.986	P	0.62184	0.899	D	0.92871	0.6314	10	0.72032	D	0.01	.	15.9478	0.79806	0.0:0.0:0.8645:0.1354	rs45466295;rs61758984	72	O95837	GNA14_HUMAN	M	72	ENSP00000365807:T72M	ENSP00000365807:T72M	T	-	2	0	GNA14	79333899	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	5.720000	0.68470	2.828000	0.97474	0.650000	0.86243	ACG		PASS	0.448	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			97	207	97	207	---	---	---	---
GABBR2	9568	broad.mit.edu	37	9	101056152	101056152	+	Missense_Mutation	SNP	C	C	T	rs79773606		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr9:101056152C>T	ENST00000259455.2	-	18	3034	c.2575G>A	c.(2575-2577)Gat>Aat	p.D859N		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	859					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.D859N(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGATTTTGATCGAGGTGATTT	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		20427	0.0		0.001	False		,,,				2504	0.0					uc004ays.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(2575-2577)GAT>AAT		G protein-coupled receptor 51 precursor	Baclofen(DB00181)	C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	219.0	213.0	215.0		2575	5.1	1.0	9	dbSNP_131	215	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GABBR2	NM_005458.7	23	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	859/942	101056152	3,13003	2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101056152C>T	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2575G>A	9.37:g.101056152C>T	ENSP00000259455:p.Asp859Asn						p.D859N	NM_005458	NP_005449	O75899	GABR2_HUMAN			18	2731	-		Acute lymphoblastic leukemia(62;0.0527)	859			Cytoplasmic (Potential).		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.2575G>A	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097822	0.76870	2.27E-4	2.33E-4	ENSG00000136928	ENST00000259455	T	0.79454	-1.27	5.11	5.11	0.69529	.	0.046249	0.85682	D	0.000000	T	0.64516	0.2605	N	0.14661	0.345	0.53005	D	0.999962	P	0.50943	0.94	B	0.40636	0.335	T	0.72033	-0.4412	10	0.62326	D	0.03	-17.4292	16.0731	0.80948	0.0:1.0:0.0:0.0	.	859	O75899	GABR2_HUMAN	N	859	ENSP00000259455:D859N	ENSP00000259455:D859N	D	-	1	0	GABBR2	100095973	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.156000	0.77453	2.645000	0.89757	0.655000	0.94253	GAT		PASS	0.383	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			51	40	51	40	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117853048	117853048	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr9:117853048T>A	ENST00000350763.4	-	2	661	c.250A>T	c.(250-252)Agc>Tgc	p.S84C	TNC_ENST00000542877.1_Missense_Mutation_p.S84C|TNC_ENST00000535648.1_Missense_Mutation_p.S84C|TNC_ENST00000537320.1_Missense_Mutation_p.S84C|TNC_ENST00000345230.3_Missense_Mutation_p.S84C|TNC_ENST00000341037.4_Missense_Mutation_p.S84C|TNC_ENST00000340094.3_Missense_Mutation_p.S84C|TNC_ENST00000423613.2_Missense_Mutation_p.S84C|TNC_ENST00000346706.3_Missense_Mutation_p.S84C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	84					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.S84C(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AAGCTTTCGCTGGGCTCTGAA	0.582																																						uc004bjj.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(250-252)AGC>TGC		tenascin C precursor							177.0	172.0	174.0					9																	117853048		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117853048T>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.250A>T	9.37:g.117853048T>A	ENSP00000265131:p.Ser84Cys					TNC_uc010mvf.2_Missense_Mutation_p.S84C	p.S84C	NM_002160	NP_002151	P24821	TENA_HUMAN			2	612	-			84					C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.250A>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.183328	0.57800	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877;ENST00000534839	T;T;T;T;T;T;T;T;T;T	0.36157	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.27	5.94	3.58	0.41010	.	0.490043	0.24059	N	0.041933	T	0.34600	0.0903	L	0.47190	1.495	0.41341	D	0.987309	D;B	0.62365	0.991;0.396	P;B	0.51193	0.662;0.353	T	0.25882	-1.0119	10	0.56958	D	0.05	.	2.4706	0.04563	0.0:0.2177:0.2849:0.4974	.	84;84	E9PC84;P24821	.;TENA_HUMAN	C	84	ENSP00000344400:S84C;ENSP00000438152:S84C;ENSP00000344555:S84C;ENSP00000345861:S84C;ENSP00000265131:S84C;ENSP00000339553:S84C;ENSP00000411406:S84C;ENSP00000443478:S84C;ENSP00000442242:S84C;ENSP00000443469:S84C	ENSP00000344400:S84C	S	-	1	0	TNC	116892869	0.001000	0.12720	0.972000	0.41901	0.353000	0.29299	1.317000	0.33631	1.043000	0.40175	0.533000	0.62120	AGC		PASS	0.582	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		129	81	129	81	---	---	---	---
PKN3	29941	broad.mit.edu	37	9	131479170	131479170	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr9:131479170C>A	ENST00000291906.4	+	16	2346	c.1953C>A	c.(1951-1953)atC>atA	p.I651I	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	651	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)	p.I651I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TGATGCAGATCCACGAGGATG	0.597																																						uc004bvw.2																			1	Substitution - coding silent(1)		lung(1)	stomach(2)|lung(2)	4						c.(1951-1953)ATC>ATA		protein kinase PKNbeta							219.0	172.0	188.0					9																	131479170		2203	4300	6503	SO:0001819	synonymous_variant	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131479170C>A	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1953C>A	9.37:g.131479170C>A						PKN3_uc010myh.2_Silent_p.I651I|PKN3_uc011mbk.1_Silent_p.I201I	p.I651I	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN			16	2346	+			651			Protein kinase.		Q9UM03	Silent	SNP	ENST00000291906.4	37	c.1953C>A	CCDS6908.1																																																																																				PASS	0.597	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		57	34	57	34	---	---	---	---
UBAC1	10422	broad.mit.edu	37	9	138830184	138830184	+	Missense_Mutation	SNP	C	C	T	rs528238931		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr9:138830184C>T	ENST00000371756.3	-	9	1203	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	UBAC1_ENST00000465873.1_5'Flank	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	329					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.R329Q(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		AGAGGGCTTCCGGTCCCCCAG	0.622																																					NSCLC(78;973 1398 27381 29552 42415)	uc004cgt.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(985-987)CGG>CAG		ubiquitin associated domain containing 1							66.0	60.0	62.0					9																	138830184		2203	4300	6503	SO:0001583	missense	10422					Golgi apparatus|plasma membrane	protein binding	g.chr9:138830184C>T	AF176796	CCDS35177.1	9q34.3	2008-02-05	2007-04-20	2007-04-20	ENSG00000130560	ENSG00000130560			30221	protein-coding gene	gene with protein product		608129	"""ubiquitin associated domain containing 1"""	UBADC1		10857748, 8619474	Standard	NM_016172		Approved	GBDR1	uc004cgt.3	Q9BSL1	OTTHUMG00000020920	ENST00000371756.3:c.986G>A	9.37:g.138830184C>T	ENSP00000360821:p.Arg329Gln					UBAC1_uc004cgs.1_Missense_Mutation_p.R329Q|UBAC1_uc004cgu.2_RNA	p.R329Q	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)	9	1204	-		Myeloproliferative disorder(178;0.0511)	329					O75500|Q9UMW7	Missense_Mutation	SNP	ENST00000371756.3	37	c.986G>A	CCDS35177.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034259	0.93575	.	.	ENSG00000130560	ENST00000371756	T	0.32988	1.43	4.8	3.9	0.45041	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	T	0.45160	-0.9280	10	0.72032	D	0.01	-37.2362	11.8449	0.52378	0.0:0.9148:0.0:0.0852	.	329	Q9BSL1	UBAC1_HUMAN	Q	329	ENSP00000360821:R329Q	ENSP00000360821:R329Q	R	-	2	0	UBAC1	137970005	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.474000	0.81024	1.004000	0.39156	0.561000	0.74099	CGG		PASS	0.622	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055034.1	NM_016172		23	9	23	9	---	---	---	---
PMPCA	23203	broad.mit.edu	37	9	139311657	139311657	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr9:139311657G>A	ENST00000371717.3	+	7	897	c.888G>A	c.(886-888)ggG>ggA	p.G296G	PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Silent_p.G165G	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	296					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.G296G(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		ACACTGGGGGGATTGCCAAGG	0.612																																						uc004chl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(886-888)GGG>GGA		peptidase (mitochondrial processing) alpha							29.0	27.0	28.0					9																	139311657		2202	4299	6501	SO:0001819	synonymous_variant	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139311657G>A	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.888G>A	9.37:g.139311657G>A						PMPCA_uc010nbl.2_Silent_p.G196G|PMPCA_uc011mdz.1_Silent_p.G165G|PMPCA_uc004chm.1_Silent_p.G46G|PMPCA_uc004chn.1_5'Flank	p.G296G	NM_015160	NP_055975	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	7	893	+		Myeloproliferative disorder(178;0.0821)	296					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Silent	SNP	ENST00000371717.3	37	c.888G>A	CCDS35180.1																																																																																				PASS	0.612	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		24	10	24	10	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25887462	25887462	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:25887462G>A	ENST00000376351.3	+	11	3266	c.2907G>A	c.(2905-2907)aaG>aaA	p.K969K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	969					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.K969K(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGCCAAGAAAGCCTCAGAAAT	0.453																																						uc001isj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2905-2907)AAG>AAA		G protein-coupled receptor 158 precursor							74.0	81.0	79.0					10																	25887462		2203	4300	6503	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887462G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2907G>A	10.37:g.25887462G>A						GPR158_uc001isk.2_Silent_p.K344K	p.K969K	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2967	+			969			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.2907G>A	CCDS31166.1																																																																																				PASS	0.453	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		86	30	86	30	---	---	---	---
BMS1	9790	broad.mit.edu	37	10	43316033	43316033	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:43316033G>T	ENST00000374518.5	+	17	2910	c.2847G>T	c.(2845-2847)agG>agT	p.R949S		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	949					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.R949S(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TAGGGTGGAGGAGGTTTCAGA	0.458																																						uc001jaj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(2845-2847)AGG>AGT		BMS1-like, ribosome assembly protein							41.0	42.0	42.0					10																	43316033		2201	4299	6500	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43316033G>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2847G>T	10.37:g.43316033G>T	ENSP00000363642:p.Arg949Ser						p.R949S	NM_014753	NP_055568	Q14692	BMS1_HUMAN			17	3205	+			949					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.2847G>T	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.744978	0.69418	.	.	ENSG00000165733	ENST00000374518	T	0.32023	1.47	4.97	4.05	0.47172	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64724	0.2624	M	0.93594	3.435	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.75374	-0.3340	10	0.87932	D	0	.	13.8853	0.63704	0.0751:0.0:0.9249:0.0	.	949	Q14692	BMS1_HUMAN	S	949	ENSP00000363642:R949S	ENSP00000363642:R949S	R	+	3	2	BMS1	42636039	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.047000	0.30367	1.217000	0.43442	0.454000	0.30748	AGG		PASS	0.458	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		19	57	19	57	---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50856650	50856650	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:50856650A>T	ENST00000337653.2	+	9	1532	c.1379A>T	c.(1378-1380)cAc>cTc	p.H460L	CHAT_ENST00000395562.2_Missense_Mutation_p.H378L|CHAT_ENST00000395559.2_Missense_Mutation_p.H342L|CHAT_ENST00000339797.1_Missense_Mutation_p.H342L|CHAT_ENST00000351556.3_Missense_Mutation_p.H342L|CHAT_ENST00000455728.2_Missense_Mutation_p.H342L	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	460					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.H460L(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CTGCTCAAGCACGTGTGAGTC	0.577																																						uc001jhz.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3						c.(1378-1380)CAC>CTC		choline acetyltransferase isoform 2	Choline(DB00122)						75.0	49.0	58.0					10																	50856650		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50856650A>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1379A>T	10.37:g.50856650A>T	ENSP00000337103:p.His460Leu					CHAT_uc001jhv.1_Missense_Mutation_p.H342L|CHAT_uc001jhx.1_Missense_Mutation_p.H342L|CHAT_uc001jhy.1_Missense_Mutation_p.H342L|CHAT_uc001jia.2_Missense_Mutation_p.H342L|CHAT_uc010qgs.1_Missense_Mutation_p.H342L	p.H460L	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	9	1532	+		all_neural(218;0.107)	460					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1379A>T	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.585501	0.46110	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.01	5.01	0.66863	.	0.059747	0.64402	D	0.000002	T	0.82079	0.4959	N	0.21617	0.685	0.58432	D	0.999997	B;P	0.39376	0.004;0.67	B;B	0.37346	0.007;0.247	T	0.82800	-0.0278	10	0.41790	T	0.15	-27.567	14.7171	0.69277	1.0:0.0:0.0:0.0	.	342;460	F8W8I2;P28329	.;CLAT_HUMAN	L	342;342;342;460;378;342	ENSP00000343486:H342L;ENSP00000345878:H342L;ENSP00000378926:H342L;ENSP00000337103:H460L;ENSP00000378929:H378L;ENSP00000390521:H342L	ENSP00000337103:H460L	H	+	2	0	CHAT	50526656	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	7.530000	0.81962	1.886000	0.54624	0.379000	0.24179	CAC		PASS	0.577	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		17	6	17	6	---	---	---	---
OGDHL	55753	broad.mit.edu	37	10	50947856	50947856	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:50947856G>T	ENST00000374103.4	-	17	2255	c.2170C>A	c.(2170-2172)Ccc>Acc	p.P724T	OGDHL_ENST00000490844.1_5'Flank|OGDHL_ENST00000419399.1_Missense_Mutation_p.P667T|OGDHL_ENST00000432695.1_Missense_Mutation_p.P515T	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	724					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.P724S(1)|p.P724T(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGGGCATTGGGGCTGGCCATG	0.572																																						uc001jie.2																			2	Substitution - Missense(2)		lung(1)|central_nervous_system(1)	pancreas(1)	1						c.(2170-2172)CCC>ACC		oxoglutarate dehydrogenase-like isoform a							67.0	61.0	63.0					10																	50947856		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50947856G>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2170C>A	10.37:g.50947856G>T	ENSP00000363216:p.Pro724Thr					OGDHL_uc009xog.2_Missense_Mutation_p.P751T|OGDHL_uc010qgt.1_Missense_Mutation_p.P667T|OGDHL_uc010qgu.1_Missense_Mutation_p.P515T	p.P724T	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			17	2312	-			724					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.2170C>A	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439122	0.83885	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.92397	-3.03;-3.03;-3.03	4.61	4.61	0.57282	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96889	0.8984	M	0.91768	3.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	D	0.98047	1.0385	10	0.87932	D	0	.	17.4702	0.87643	0.0:0.0:1.0:0.0	.	667;515;724	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	T	724;667;515	ENSP00000363216:P724T;ENSP00000401356:P667T;ENSP00000390240:P515T	ENSP00000363216:P724T	P	-	1	0	OGDHL	50617862	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.859000	0.99545	2.127000	0.65507	0.446000	0.29264	CCC		PASS	0.572	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		22	34	22	34	---	---	---	---
DKK1	22943	broad.mit.edu	37	10	54074370	54074370	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:54074370C>A	ENST00000373970.3	+	1	315	c.176C>A	c.(175-177)gCa>gAa	p.A59E	PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	59					cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)	p.A59E(1)		kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						CCAGGCTCTGCAGTCAGCGCC	0.632											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001jjr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|kidney(1)	3						c.(175-177)GCA>GAA		dickkopf homolog 1 precursor							28.0	34.0	32.0					10																	54074370		2203	4296	6499	SO:0001583	missense	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54074370C>A		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.176C>A	10.37:g.54074370C>A	ENSP00000363081:p.Ala59Glu		OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	997	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	p.A59E	NM_012242	NP_036374	O94907	DKK1_HUMAN			1	330	+			59					B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	c.176C>A	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061115	0.76074	.	.	ENSG00000107984	ENST00000373970	T	0.50001	0.76	3.95	3.95	0.45737	.	0.063203	0.64402	D	0.000007	T	0.35393	0.0930	L	0.29908	0.895	0.27620	N	0.948399	P	0.44627	0.839	B	0.40444	0.329	T	0.28235	-1.0050	10	0.45353	T	0.12	-5.1689	11.8718	0.52525	0.0:1.0:0.0:0.0	.	59	O94907	DKK1_HUMAN	E	59	ENSP00000363081:A59E	ENSP00000363081:A59E	A	+	2	0	DKK1	53744376	0.023000	0.18921	0.703000	0.30354	0.933000	0.57130	2.512000	0.45485	1.927000	0.55829	0.655000	0.94253	GCA		PASS	0.632	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			27	50	27	50	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55568769	55568769	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:55568769G>T	ENST00000395445.1	-	36	5435	c.5041C>A	c.(5041-5043)Cca>Aca	p.P1681T	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.P546T|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.P877T|PCDH15_ENST00000395440.1_Missense_Mutation_p.P615T	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				tcttcttgtggctcctcttTC	0.458										HNSCC(58;0.16)																												uc010qhs.1																			0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(5056-5058)CCA>ACA		protocadherin 15 isoform CD2-1 precursor							71.0	52.0	58.0					10																	55568769		1566	3578	5144	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55568769G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.5041C>A	10.37:g.55568769G>T	ENSP00000378832:p.Pro1681Thr	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.P1679T|PCDH15_uc010qhu.1_3'UTR	p.P1686T	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN			37	5451	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000395445.1	37	c.5056C>A		.	.	.	.	.	.	.	.	.	.	G	7.841	0.721899	0.15372	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;D;D;D	0.97209	2.34;-4.29;-4.29;-4.29	5.46	2.01	0.26516	.	.	.	.	.	D	0.90676	0.7075	N	0.14661	0.345	0.09310	N	1	B;B	0.20887	0.049;0.049	B;B	0.16722	0.016;0.016	T	0.82587	-0.0383	9	0.30854	T	0.27	.	4.3795	0.11286	0.1159:0.2534:0.5017:0.129	.	1679;1681	C6ZEF5;A2A3E2	.;.	T	1681;877;546;615	ENSP00000378832:P1681T;ENSP00000378833:P877T;ENSP00000378829:P546T;ENSP00000378827:P615T	ENSP00000378827:P615T	P	-	1	0	PCDH15	55238775	0.001000	0.12720	0.007000	0.13788	0.002000	0.02628	0.713000	0.25794	0.636000	0.30508	-0.165000	0.13383	CCA		PASS	0.458	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		5	4	5	4	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55892724	55892724	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:55892724T>A	ENST00000320301.6	-	15	2222	c.1828A>T	c.(1828-1830)Aat>Tat	p.N610Y	PCDH15_ENST00000373957.3_Missense_Mutation_p.N588Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.N610Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.N573Y|PCDH15_ENST00000373955.1_Missense_Mutation_p.N610Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.N617Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.N615Y|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.N617Y|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.N588Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.N610Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.N610Y|PCDH15_ENST00000409834.1_Missense_Mutation_p.N221Y|PCDH15_ENST00000395446.1_Missense_Mutation_p.N610Y|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	610	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.N610Y(2)|p.N615Y(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGGCTTTGATTATTTGGTGGA	0.408										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(1828-1830)AAT>TAT		protocadherin 15 isoform CD1-4 precursor							130.0	115.0	120.0					10																	55892724		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55892724T>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1828A>T	10.37:g.55892724T>A	ENSP00000322604:p.Asn610Tyr	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.N615Y|PCDH15_uc010qhr.1_Missense_Mutation_p.N610Y|PCDH15_uc010qhs.1_Missense_Mutation_p.N622Y|PCDH15_uc010qht.1_Missense_Mutation_p.N617Y|PCDH15_uc010qhu.1_Missense_Mutation_p.N610Y|PCDH15_uc001jjv.1_Missense_Mutation_p.N588Y|PCDH15_uc010qhv.1_Missense_Mutation_p.N610Y|PCDH15_uc010qhw.1_Missense_Mutation_p.N573Y|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhy.1_Missense_Mutation_p.N615Y|PCDH15_uc010qhz.1_Missense_Mutation_p.N610Y|PCDH15_uc010qia.1_Missense_Mutation_p.N588Y|PCDH15_uc010qib.1_Missense_Mutation_p.N588Y|PCDH15_uc001jjw.2_Missense_Mutation_p.N610Y	p.N610Y	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			15	2223	-		Melanoma(3;0.117)|Lung SC(717;0.238)	610			Cadherin 5.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1828A>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.561041	0.86335	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.77750	-0.97;-0.97;-0.97;-0.97;-0.97;-1.12;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	5.41	5.41	0.78517	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.90490	0.7021	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;1.0;0.999;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.998;0.993;0.995;0.991;0.99;0.998;0.995;0.995;0.997;0.993;0.993;0.993;0.984;0.986	D	0.92700	0.6174	9	0.87932	D	0	.	14.7161	0.69269	0.0:0.0:0.0:1.0	.	588;610;610;615;573;610;610;617;617;610;615;610;588;610	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Y	617;615;610;610;221;617;610;573;610;588;588;610;610;615;610	ENSP00000363076:N617Y;ENSP00000410304:N615Y;ENSP00000378826:N610Y;ENSP00000386693:N221Y;ENSP00000378832:N617Y;ENSP00000378833:N610Y;ENSP00000378820:N573Y;ENSP00000354950:N610Y;ENSP00000378821:N588Y;ENSP00000363068:N588Y;ENSP00000322604:N610Y;ENSP00000378818:N610Y;ENSP00000363066:N610Y	ENSP00000322604:N610Y	N	-	1	0	PCDH15	55562730	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.701000	0.84566	2.173000	0.68751	0.482000	0.46254	AAT		PASS	0.408	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		18	43	18	43	---	---	---	---
FAM13C	220965	broad.mit.edu	37	10	61012727	61012727	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:61012727G>A	ENST00000373868.2	-	12	1451	c.1364C>T	c.(1363-1365)cCa>cTa	p.P455L	FAM13C_ENST00000442566.3_Missense_Mutation_p.P476L|FAM13C_ENST00000277705.6_Missense_Mutation_p.P475L|FAM13C_ENST00000468840.2_Missense_Mutation_p.P372L|FAM13C_ENST00000373867.3_Missense_Mutation_p.P371L|FAM13C_ENST00000435852.2_Missense_Mutation_p.P455L|FAM13C_ENST00000419214.2_Missense_Mutation_p.P357L	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	455								p.P455L(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTTCCCTGTGGACGGTCTTC	0.483																																						uc001jkn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1363-1365)CCA>CTA		hypothetical protein LOC220965 isoform 1							173.0	160.0	165.0					10																	61012727		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61012727G>A	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1364C>T	10.37:g.61012727G>A	ENSP00000362975:p.Pro455Leu					FAM13C_uc001jko.2_Missense_Mutation_p.P357L|FAM13C_uc010qid.1_Missense_Mutation_p.P371L|FAM13C_uc010qie.1_Missense_Mutation_p.P372L|FAM13C_uc010qif.1_Missense_Mutation_p.P477L	p.P455L	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			13	1498	-			455					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.1364C>T	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004993	0.35415	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852	T;T;T;T;T	0.44083	0.97;0.97;0.95;0.97;0.93	5.72	1.67	0.24075	.	0.515454	0.20185	N	0.097423	T	0.33818	0.0876	L	0.60455	1.87	0.38895	D	0.957205	B;B;B;B	0.32753	0.383;0.348;0.066;0.196	B;B;B;B	0.31101	0.124;0.068;0.036;0.079	T	0.19451	-1.0305	10	0.59425	D	0.04	-0.6332	5.7293	0.18030	0.1429:0.0:0.579:0.2781	.	455;371;357;455	B7Z2K3;B7ZB77;Q8NE31-3;Q8NE31	.;.;.;FA13C_HUMAN	L	371;455;476;475;357;372;455	ENSP00000362975:P455L;ENSP00000395661:P476L;ENSP00000277705:P475L;ENSP00000391993:P357L;ENSP00000392302:P455L	ENSP00000277705:P475L	P	-	2	0	FAM13C	60682733	1.000000	0.71417	0.986000	0.45419	0.785000	0.44390	1.829000	0.39121	0.404000	0.25506	0.655000	0.94253	CCA		PASS	0.483	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			27	100	27	100	---	---	---	---
RHOBTB1	9886	broad.mit.edu	37	10	62648181	62648181	+	Silent	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:62648181G>C	ENST00000337910.5	-	6	1582	c.1245C>G	c.(1243-1245)ctC>ctG	p.L415L	RHOBTB1_ENST00000357917.4_Silent_p.L415L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	415	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.L415L(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AAAGAAACTGGAGCAGGGTCC	0.527																																						uc001jli.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1243-1245)CTC>CTG		Rho-related BTB domain containing 1							67.0	65.0	66.0					10																	62648181		2203	4300	6503	SO:0001819	synonymous_variant	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648181G>C	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1245C>G	10.37:g.62648181G>C						RHOBTB1_uc001jlh.2_Silent_p.L415L|RHOBTB1_uc001jlj.2_Silent_p.L415L|RHOBTB1_uc001jlk.2_Silent_p.L415L|RHOBTB1_uc009xpe.1_Silent_p.L353L|RHOBTB1_uc001jll.2_Silent_p.L165L	p.L415L	NM_014836	NP_055651	O94844	RHBT1_HUMAN			7	1683	-	Prostate(12;0.0112)		415			BTB 1.			Silent	SNP	ENST00000337910.5	37	c.1245C>G	CCDS7261.1																																																																																				PASS	0.527	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			28	57	28	57	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64960338	64960338	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:64960338C>A	ENST00000399262.2	-	11	5392	c.5174G>T	c.(5173-5175)gGg>gTg	p.G1725V	JMJD1C_ENST00000402544.1_Missense_Mutation_p.G1506V|JMJD1C_ENST00000399251.1_Intron|JMJD1C_ENST00000542921.1_Missense_Mutation_p.G1543V	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1725					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.G1725V(1)|p.G1506V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TAAATTAGGCCCTATCTCACA	0.403																																						uc001jmn.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(5173-5175)GGG>GTG		jumonji domain containing 1C isoform a							82.0	75.0	77.0					10																	64960338		1848	4111	5959	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64960338C>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5174G>T	10.37:g.64960338C>A	ENSP00000382204:p.Gly1725Val					JMJD1C_uc001jml.2_Missense_Mutation_p.G1506V|JMJD1C_uc001jmm.2_Missense_Mutation_p.G1437V|JMJD1C_uc010qiq.1_Missense_Mutation_p.G1543V|JMJD1C_uc009xpi.2_Missense_Mutation_p.G1543V|JMJD1C_uc009xpj.1_Intron|JMJD1C_uc009xpk.1_Intron	p.G1725V	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			11	5474	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1725					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.5174G>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225798	0.79576	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.55234	0.87;0.53;0.87	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.67942	0.2947	L	0.48174	1.505	0.80722	D	1	D;P	0.89917	1.0;0.598	D;B	0.97110	1.0;0.253	T	0.60687	-0.7214	10	0.29301	T	0.29	-10.164	20.1736	0.98170	0.0:1.0:0.0:0.0	.	1725;1543	Q15652;A0T124	JHD2C_HUMAN;.	V	1725;1506;1543	ENSP00000382204:G1725V;ENSP00000384990:G1506V;ENSP00000444682:G1543V	ENSP00000382204:G1725V	G	-	2	0	JMJD1C	64630344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.996000	0.70639	2.767000	0.95098	0.557000	0.71058	GGG		PASS	0.403	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		23	27	23	27	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	69407234	69407234	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:69407234G>T	ENST00000433211.2	-	2	212	c.38C>A	c.(37-39)cCt>cAt	p.P13H	CTNNA3_ENST00000373744.4_Missense_Mutation_p.P13H|CTNNA3_ENST00000545309.1_Missense_Mutation_p.P13H	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.P13H(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAGATCCTGAGGATCGATATT	0.383																																						uc009xpn.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(37-39)CCT>CAT		catenin, alpha 3							155.0	149.0	151.0					10																	69407234		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:69407234G>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.38C>A	10.37:g.69407234G>T	ENSP00000389714:p.Pro13His					CTNNA3_uc001jmw.2_Missense_Mutation_p.P13H|CTNNA3_uc001jmx.3_Missense_Mutation_p.P13H|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Missense_Mutation_p.P25H	p.P13H	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			2	161	-			13						Missense_Mutation	SNP	ENST00000433211.2	37	c.38C>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286720	0.40494	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.62788	1.15;1.15;0.27;0.0	5.71	3.84	0.44239	.	0.086903	0.44688	D	0.000421	T	0.74473	0.3721	M	0.71871	2.18	0.24601	N	0.993776	P;D;B	0.65815	0.947;0.995;0.187	B;D;B	0.66847	0.319;0.947;0.109	T	0.66654	-0.5869	10	0.87932	D	0	-0.1201	10.3178	0.43747	0.1577:0.0:0.8423:0.0	.	13;13;13	F2Z2R0;Q9UI47-2;Q9UI47	.;.;CTNA3_HUMAN	H	13	ENSP00000389714:P13H;ENSP00000362849:P13H;ENSP00000441444:P13H;ENSP00000330570:P13H	ENSP00000330570:P13H	P	-	2	0	CTNNA3	69077240	0.998000	0.40836	0.526000	0.27913	0.938000	0.57974	1.671000	0.37513	0.739000	0.32628	0.655000	0.94253	CCT		PASS	0.383	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		43	145	43	145	---	---	---	---
NODAL	4838	broad.mit.edu	37	10	72195571	72195571	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:72195571G>T	ENST00000287139.3	-	2	361	c.362C>A	c.(361-363)aCa>aAa	p.T121K	AC022532.1_ENST00000420338.2_3'UTR	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	121					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)	p.T121K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						AGCCTGCTCTGTGTCGGGCTT	0.567																																						uc001jrc.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|kidney(1)	2						c.(361-363)ACA>AAA		nodal precursor							68.0	61.0	63.0					10																	72195571		2203	4300	6503	SO:0001583	missense	4838				growth	extracellular space	cytokine activity|growth factor activity	g.chr10:72195571G>T	BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"""nodal, mouse, homolog"", ""nodal homolog (mouse)"""			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.362C>A	10.37:g.72195571G>T	ENSP00000287139:p.Thr121Lys						p.T121K	NM_018055	NP_060525	Q96S42	NODAL_HUMAN			2	404	-			121					Q2M3A5|Q8N4V3	Missense_Mutation	SNP	ENST00000287139.3	37	c.362C>A	CCDS7304.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.324272	0.00232	.	.	ENSG00000156574	ENST00000287139;ENST00000414871	T;T	0.63913	-0.07;-0.07	5.21	-2.48	0.06423	Transforming growth factor-beta, N-terminal (1);	0.901038	0.09746	N	0.761259	T	0.31009	0.0783	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15752	-1.0426	10	0.29301	T	0.29	.	5.0783	0.14644	0.2673:0.0:0.1749:0.5578	.	121	Q96S42	NODAL_HUMAN	K	121;66	ENSP00000287139:T121K;ENSP00000394468:T66K	ENSP00000287139:T121K	T	-	2	0	NODAL	71865577	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.084000	0.11268	-0.059000	0.13154	-0.258000	0.10820	ACA		PASS	0.567	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048511.1	NM_018055		37	47	37	47	---	---	---	---
AP3M1	26985	broad.mit.edu	37	10	75886051	75886051	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:75886051C>A	ENST00000355264.4	-	7	1177	c.866G>T	c.(865-867)gGc>gTc	p.G289V	AP3M1_ENST00000372745.1_Missense_Mutation_p.G289V	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	289	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)	p.G289V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					ATCAAATCTGCCGCAAGAACT	0.373																																						uc001jwf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(865-867)GGC>GTC		adaptor-related protein complex 3, mu 1 subunit							164.0	138.0	147.0					10																	75886051		2203	4300	6503	SO:0001583	missense	26985				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	g.chr10:75886051C>A	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.866G>T	10.37:g.75886051C>A	ENSP00000347408:p.Gly289Val					AP3M1_uc001jwg.2_Missense_Mutation_p.G289V|AP3M1_uc001jwh.2_Missense_Mutation_p.G289V|AP3M1_uc010qla.1_Missense_Mutation_p.G235V	p.G289V	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN			7	1296	-	Prostate(51;0.0112)		289			MHD.		Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	37	c.866G>T	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823746	0.90873	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.16196	2.36;2.36	5.63	5.63	0.86233	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.32941	0.0846	M	0.65677	2.01	0.80722	D	1	P;P	0.44281	0.6;0.831	B;P	0.49561	0.394;0.615	T	0.00849	-1.1541	10	0.39692	T	0.17	-16.7572	19.7096	0.96089	0.0:1.0:0.0:0.0	.	235;289	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	V	289	ENSP00000347408:G289V;ENSP00000361831:G289V	ENSP00000347408:G289V	G	-	2	0	AP3M1	75556057	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.487000	0.81328	2.652000	0.90054	0.655000	0.94253	GGC		PASS	0.373	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			11	53	11	53	---	---	---	---
LRIT1	26103	broad.mit.edu	37	10	85992085	85992085	+	Silent	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:85992085G>T	ENST00000372105.3	-	4	1491	c.1470C>A	c.(1468-1470)ccC>ccA	p.P490P		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	490	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of endoplasmic reticulum membrane (GO:0030176)		p.P490P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						ACTTGGTCTTGGGCAACAGCC	0.572																																						uc001kcz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1468-1470)CCC>CCA		retina specific protein PAL							57.0	52.0	53.0					10																	85992085		2203	4300	6503	SO:0001819	synonymous_variant	26103					integral to endoplasmic reticulum membrane		g.chr10:85992085G>T	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1470C>A	10.37:g.85992085G>T							p.P490P	NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN			4	1492	-			490			Fibronectin type-III.|Lumenal (Potential).		Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	c.1470C>A	CCDS7373.1																																																																																				PASS	0.572	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		14	12	14	12	---	---	---	---
KIF20B	9585	broad.mit.edu	37	10	91465176	91465176	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:91465176C>T	ENST00000371728.3	+	2	190	c.125C>T	c.(124-126)tCc>tTc	p.S42F	KIF20B_ENST00000416354.1_Missense_Mutation_p.S42F|KIF20B_ENST00000394289.2_Missense_Mutation_p.S42F|KIF20B_ENST00000260753.4_Missense_Mutation_p.S42F	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	42					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.S42F(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CATGAATTTTCCTTAGTTGCT	0.393																																						uc001kgs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(124-126)TCC>TTC		M-phase phosphoprotein 1							112.0	105.0	108.0					10																	91465176		2203	4300	6503	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91465176C>T	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.125C>T	10.37:g.91465176C>T	ENSP00000360793:p.Ser42Phe					KIF20B_uc001kgr.1_Missense_Mutation_p.S42F	p.S42F	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN			2	197	+			42					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.125C>T		.	.	.	.	.	.	.	.	.	.	C	22.9	4.344961	0.82022	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656;ENST00000447580	T;T;T;T;T	0.72167	-0.43;-0.4;-0.49;-0.43;-0.63	5.57	5.57	0.84162	.	0.000000	0.43579	D	0.000542	D	0.83755	0.5323	M	0.73962	2.25	0.36082	D	0.842877	D;D	0.71674	0.998;0.994	D;P	0.76575	0.988;0.883	D	0.88144	0.2846	10	0.72032	D	0.01	-5.0512	16.4634	0.84071	0.0:1.0:0.0:0.0	.	42;42	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	F	42	ENSP00000260753:S42F;ENSP00000411545:S42F;ENSP00000377830:S42F;ENSP00000360793:S42F;ENSP00000390946:S42F	ENSP00000260753:S42F	S	+	2	0	KIF20B	91455156	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.456000	0.60081	2.604000	0.88044	0.650000	0.86243	TCC		PASS	0.393	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		43	42	43	42	---	---	---	---
PCGF5	84333	broad.mit.edu	37	10	93008287	93008287	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:93008287A>G	ENST00000336126.5	+	4	467	c.235A>G	c.(235-237)Ata>Gta	p.I79V	PCGF5_ENST00000543648.1_Missense_Mutation_p.I79V	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	79					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)	p.I79V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						AGAGGAAATTATATTTAAGCT	0.358																																					Colon(178;732 2696 46441 50370)	uc001khh.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(235-237)ATA>GTA		polycomb group ring finger 5							175.0	177.0	176.0					10																	93008287		2203	4300	6503	SO:0001583	missense	84333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding	g.chr10:93008287A>G	AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	28264	protein-coding gene	gene with protein product			"""ring finger protein (C3HC4 type) 159"""	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.235A>G	10.37:g.93008287A>G	ENSP00000337500:p.Ile79Val					PCGF5_uc010qnk.1_Missense_Mutation_p.I79V|PCGF5_uc001khi.2_Missense_Mutation_p.I79V	p.I79V	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN			4	482	+			79					B7Z892|D3DR33|Q6PK47|Q86TD0	Missense_Mutation	SNP	ENST00000336126.5	37	c.235A>G	CCDS7413.1	.	.	.	.	.	.	.	.	.	.	A	7.907	0.735683	0.15574	.	.	ENSG00000180628	ENST00000543648;ENST00000336126	T;T	0.16597	2.33;2.33	5.35	5.35	0.76521	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.09642	0.0237	N	0.11724	0.165	0.80722	D	1	B	0.27765	0.188	B	0.29267	0.1	T	0.05784	-1.0864	10	0.02654	T	1	-21.5196	15.6187	0.76787	1.0:0.0:0.0:0.0	.	79	Q86SE9	PCGF5_HUMAN	V	79	ENSP00000445704:I79V;ENSP00000337500:I79V	ENSP00000337500:I79V	I	+	1	0	PCGF5	92998267	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.994000	0.93529	2.147000	0.66899	0.528000	0.53228	ATA		PASS	0.358	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	NM_032373		78	76	78	76	---	---	---	---
CYP26C1	340665	broad.mit.edu	37	10	94824182	94824182	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:94824182C>T	ENST00000285949.5	+	4	750	c.750C>T	c.(748-750)gcC>gcT	p.A250A		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	250					anterior/posterior pattern specification (GO:0009952)|central nervous system development (GO:0007417)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|organelle fusion (GO:0048284)|oxidation-reduction process (GO:0055114)|retinoic acid catabolic process (GO:0034653)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.A250A(1)		central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				TGGAGGGGGCCATTTCTGAGA	0.612																																						uc010qns.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(748-750)GCC>GCT		cytochrome P450, family 26, subfamily C,							66.0	63.0	64.0					10																	94824182		2203	4300	6503	SO:0001819	synonymous_variant	340665				anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94824182C>T		CCDS7425.1	10q23.33	2003-11-20			ENSG00000187553	ENSG00000187553		"""Cytochrome P450s"""	20577	protein-coding gene	gene with protein product		608428					Standard	XR_246086		Approved		uc010qns.2	Q6V0L0	OTTHUMG00000018766	ENST00000285949.5:c.750C>T	10.37:g.94824182C>T						CYP26C1_uc009xud.2_Intron	p.A250A	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN			4	750	+		Colorectal(252;0.122)	250					Q5VXH6	Silent	SNP	ENST00000285949.5	37	c.750C>T	CCDS7425.1																																																																																				PASS	0.612	CYP26C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049409.2	NM_183374		28	40	28	40	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	95790939	95790939	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:95790939C>A	ENST00000371380.3	+	1	371	c.136C>A	c.(136-138)Cga>Aga	p.R46R	PLCE1_ENST00000260766.3_Silent_p.R46R			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	46					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.R46R(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TACTGTCAGACGAAGTGGGGA	0.433																																						uc001kjk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(136-138)CGA>AGA		phospholipase C, epsilon 1 isoform 1							70.0	66.0	67.0					10																	95790939		1868	4099	5967	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95790939C>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.136C>A	10.37:g.95790939C>A						PLCE1_uc010qnx.1_Silent_p.R46R	p.R46R	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			2	770	+		Colorectal(252;0.0458)	46					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.136C>A	CCDS41552.1																																																																																				PASS	0.433	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		28	32	28	32	---	---	---	---
POLL	27343	broad.mit.edu	37	10	103339394	103339394	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:103339394G>C	ENST00000370162.3	-	9	2038	c.1544C>G	c.(1543-1545)tCc>tGc	p.S515C	POLL_ENST00000463515.1_5'UTR|POLL_ENST00000370158.3_Missense_Mutation_p.S240C|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000339310.3_Missense_Mutation_p.S238C|POLL_ENST00000370169.1_Missense_Mutation_p.S515C|POLL_ENST00000456836.2_Missense_Mutation_p.S252C|POLL_ENST00000370168.3_Missense_Mutation_p.S188C|POLL_ENST00000370172.1_Missense_Mutation_p.S427C|POLL_ENST00000299206.4_Missense_Mutation_p.S515C	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	515					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)	p.S515C(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGCTCGCATGGAGCGGTTGAA	0.632								DNA polymerases (catalytic subunits)																														uc001ktg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1543-1545)TCC>TGC	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase lambda							84.0	85.0	85.0					10																	103339394		2203	4300	6503	SO:0001583	missense	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103339394G>C	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.1544C>G	10.37:g.103339394G>C	ENSP00000359181:p.Ser515Cys					DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_Missense_Mutation_p.S188C|POLL_uc001kte.1_Missense_Mutation_p.S207C|POLL_uc001kth.1_Missense_Mutation_p.S240C|POLL_uc001kti.1_Missense_Mutation_p.S515C|POLL_uc001ktj.1_Missense_Mutation_p.S515C|POLL_uc001ktf.2_Missense_Mutation_p.S423C|POLL_uc001ktk.1_Missense_Mutation_p.S254C|POLL_uc010qqa.1_Missense_Mutation_p.S254C|POLL_uc010qqb.1_RNA|POLL_uc001ktm.2_Missense_Mutation_p.S515C|POLL_uc001ktl.2_Missense_Mutation_p.S427C|POLL_uc010qqc.1_Missense_Mutation_p.S207C	p.S515C	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	8	2310	-		Colorectal(252;0.234)	515					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	ENST00000370162.3	37	c.1544C>G	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445512	0.84101	.	.	ENSG00000166169	ENST00000299206;ENST00000370169;ENST00000339310;ENST00000370172;ENST00000370168;ENST00000370162;ENST00000370158;ENST00000456836;ENST00000415897	T;T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.04	5.04	0.67666	DNA-directed DNA polymerase X (1);	0.000000	0.85682	D	0.000000	T	0.77301	0.4110	M	0.93763	3.455	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.78314	0.891;0.962;0.966;0.991;0.973;0.988	D	0.84379	0.0548	10	0.87932	D	0	-13.2057	17.9799	0.89138	0.0:0.0:1.0:0.0	.	238;252;240;515;423;188	Q5JQP4;B4DEF5;Q9BTN8;Q9UGP5;A8K860;Q9HBN3	.;.;.;DPOLL_HUMAN;.;.	C	515;515;238;427;188;515;240;252;430	ENSP00000299206:S515C;ENSP00000359188:S515C;ENSP00000343102:S238C;ENSP00000359191:S427C;ENSP00000359187:S188C;ENSP00000359181:S515C;ENSP00000359177:S240C;ENSP00000390810:S252C;ENSP00000400676:S430C	ENSP00000299206:S515C	S	-	2	0	POLL	103329384	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.386000	0.97228	2.321000	0.78463	0.462000	0.41574	TCC		PASS	0.632	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		49	65	49	65	---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115389450	115389450	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:115389450A>G	ENST00000359988.3	-	19	2181	c.1937T>C	c.(1936-1938)cTc>cCc	p.L646P	NRAP_ENST00000369358.4_Missense_Mutation_p.L654P|NRAP_ENST00000369360.3_Missense_Mutation_p.L619P|NRAP_ENST00000360478.3_Missense_Mutation_p.L611P	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.L646P(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTCACTGGCGAGAGTTTGGGC	0.483																																						uc001laj.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(1936-1938)CTC>CCC		nebulin-related anchoring protein isoform S							127.0	118.0	121.0					10																	115389450		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115389450A>G		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1937T>C	10.37:g.115389450A>G	ENSP00000353078:p.Leu646Pro					NRAP_uc009xyb.2_5'Flank|NRAP_uc001lak.2_Missense_Mutation_p.L611P|NRAP_uc001lal.3_Missense_Mutation_p.L646P	p.L646P	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	19	2101	-		Colorectal(252;0.0233)|Breast(234;0.188)	646			Nebulin 15.			Missense_Mutation	SNP	ENST00000359988.3	37	c.1937T>C	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.456291	0.84317	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	M	0.89785	3.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.991	T	0.83078	-0.0139	10	0.87932	D	0	.	15.3501	0.74376	1.0:0.0:0.0:0.0	.	646;611;646	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	P	654;619;646;611	ENSP00000358365:L654P;ENSP00000358367:L619P;ENSP00000353078:L646P;ENSP00000353666:L611P	ENSP00000353078:L646P	L	-	2	0	NRAP	115379440	1.000000	0.71417	0.972000	0.41901	0.972000	0.66771	7.449000	0.80643	2.082000	0.62665	0.459000	0.35465	CTC		PASS	0.483	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		22	80	22	80	---	---	---	---
PNLIP	5406	broad.mit.edu	37	10	118318738	118318738	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:118318738A>G	ENST00000369221.2	+	10	1031	c.1003A>G	c.(1003-1005)Aca>Gca	p.T335A		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	335					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.T335A(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TCCTGGGAAAACAAATGATGT	0.378																																						uc001lcm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1003-1005)ACA>GCA		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						111.0	108.0	109.0					10																	118318738		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118318738A>G	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1003A>G	10.37:g.118318738A>G	ENSP00000358223:p.Thr335Ala						p.T335A	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	10	1046	+			335					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.1003A>G	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.257657	0.39896	.	.	ENSG00000175535	ENST00000369221	D	0.90788	-2.73	6.05	3.76	0.43208	Lipase, N-terminal (1);	0.072630	0.56097	D	0.000021	D	0.88760	0.6524	M	0.85373	2.75	0.39097	D	0.961215	B	0.09022	0.002	B	0.14023	0.01	T	0.81317	-0.0987	10	0.09084	T	0.74	.	9.3099	0.37898	0.8531:0.0:0.1469:0.0	.	335	P16233	LIPP_HUMAN	A	335	ENSP00000358223:T335A	ENSP00000358223:T335A	T	+	1	0	PNLIP	118308728	0.266000	0.24112	0.258000	0.24420	0.048000	0.14542	0.238000	0.18004	1.113000	0.41760	0.528000	0.53228	ACA		PASS	0.378	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		25	37	25	37	---	---	---	---
HMX3	340784	broad.mit.edu	37	10	124896747	124896747	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:124896747G>A	ENST00000357878.5	+	2	663	c.574G>A	c.(574-576)Gcg>Acg	p.A192T		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	192					brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A192T(1)		lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		AGGCGAAGCGGCGCCAGGCGC	0.662																																						uc010quc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(574-576)GCG>ACG		H6 family homeobox 3							9.0	11.0	10.0					10																	124896747		1868	4077	5945	SO:0001583	missense	340784				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:124896747G>A		CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"""Homeoboxes / ANTP class : NKL subclass"""	5019	protein-coding gene	gene with protein product		613380	"""homeo box (H6 family) 3"""				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.574G>A	10.37:g.124896747G>A	ENSP00000350549:p.Ala192Thr						p.A192T	NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)	2	574	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	192					A8MU06	Missense_Mutation	SNP	ENST00000357878.5	37	c.574G>A	CCDS41575.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595134	0.28445	.	.	ENSG00000188620	ENST00000357878	D	0.91180	-2.8	4.54	2.58	0.30949	.	0.734388	0.11701	N	0.537881	T	0.76969	0.4062	N	0.08118	0	0.24003	N	0.996204	B	0.19706	0.038	B	0.08055	0.003	T	0.62343	-0.6874	10	0.13470	T	0.59	.	7.467	0.27326	0.0875:0.0:0.7495:0.1629	.	192	A6NHT5	HMX3_HUMAN	T	192	ENSP00000350549:A192T	ENSP00000350549:A192T	A	+	1	0	HMX3	124886737	0.996000	0.38824	0.988000	0.46212	0.827000	0.46813	1.399000	0.34566	1.148000	0.42385	0.455000	0.32223	GCG		PASS	0.662	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050842.4	XM_291716		7	4	7	4	---	---	---	---
STK32C	282974	broad.mit.edu	37	10	134121179	134121179	+	Intron	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:134121179C>A	ENST00000368625.4	-	1	387				STK32C_ENST00000368622.1_5'Flank					serine/threonine kinase 32C									p.S53S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GGCGCGGCTGCGAGCGGACAT	0.766																																						uc001lle.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|lung(2)|breast(1)	5						c.(157-159)TCG>TCT		serine/threonine kinase 32C							21.0	26.0	24.0					10																	134121179		2159	4235	6394	SO:0001627	intron_variant	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134121179C>A	AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368625.4:c.301+23760G>T	10.37:g.134121179C>A						STK32C_uc001lld.1_5'Flank|STK32C_uc010quu.1_Intron|STK32C_uc009ybc.1_Intron|STK32C_uc009ybd.1_Intron	p.S53S	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)	1	299	-		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)	53						Silent	SNP	ENST00000368625.4	37	c.159G>T																																																																																					PASS	0.766	STK32C-201	KNOWN	basic	protein_coding	protein_coding		NM_173575		31	45	31	45	---	---	---	---
C10orf91	170393	broad.mit.edu	37	10	134258757	134258757	+	Missense_Mutation	SNP	T	T	A	rs560540145		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:134258757T>A	ENST00000392630.3	+	1	65	c.4T>A	c.(4-6)Tgg>Agg	p.W2R	C10orf91_ENST00000490765.1_Intron|C10orf91_ENST00000321248.2_Missense_Mutation_p.W2R	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	2								p.W2R(1)		endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		AGCTGAAATGTGGAGTTTCCT	0.622																																						uc001llm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4-6)TGG>AGG		hypothetical protein LOC170393							64.0	62.0	62.0					10																	134258757		2177	4275	6452	SO:0001583	missense	170393							g.chr10:134258757T>A	BC030794	CCDS7668.1	10q26.3	2004-03-16			ENSG00000180066	ENSG00000180066			27275	protein-coding gene	gene with protein product						12477932	Standard	NM_173541		Approved	bA432J24.4	uc001llm.3	Q5T1B1	OTTHUMG00000019289	ENST00000392630.3:c.4T>A	10.37:g.134258757T>A	ENSP00000376407:p.Trp2Arg						p.W2R	NM_173541	NP_775812	Q5T1B1	CJ091_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)	1	44	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	2					Q8N0T7	Missense_Mutation	SNP	ENST00000392630.3	37	c.4T>A	CCDS7668.1	.	.	.	.	.	.	.	.	.	.	T	6.932	0.541654	0.13250	.	.	ENSG00000180066	ENST00000392630;ENST00000321248	T;T	0.56776	0.44;0.44	0.235	0.235	0.15431	.	.	.	.	.	T	0.27027	0.0662	N	0.08118	0	0.09310	N	1	B	0.30361	0.277	B	0.23150	0.044	T	0.17107	-1.0380	8	0.87932	D	0	.	.	.	.	.	2	Q5T1B1	CJ091_HUMAN	R	2	ENSP00000376407:W2R;ENSP00000323241:W2R	ENSP00000323241:W2R	W	+	1	0	C10orf91	134108747	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-0.592000	0.05747	0.263000	0.21812	0.260000	0.18958	TGG		PASS	0.622	C10orf91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051078.2	NM_173541		3	6	3	6	---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1082714	1082714	+	Splice_Site	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:1082714A>T	ENST00000441003.2	+	15	1990	c.1963A>T	c.(1963-1965)Aac>Tac	p.N655Y	MUC2_ENST00000359061.5_Splice_Site_p.N655Y	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	655					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.N655Y(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCATGTCTGCAGTGAGTGCCG	0.697																																						uc001lsx.1																			2	Substitution - Missense(2)		lung(2)	lung(1)|breast(1)	2						c.(1963-1965)AAC>TAC		mucin 2 precursor	Pranlukast(DB01411)						30.0	35.0	33.0					11																	1082714		2074	4210	6284	SO:0001630	splice_region_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1082714A>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1963+1A>T	11.37:g.1082714A>T							p.N655Y	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	15	1990	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	655					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.1963A>T		.	.	.	.	.	.	.	.	.	.	a	12.54	1.970027	0.34754	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.13538	2.61;2.58	4.82	3.67	0.42095	.	0.590657	0.14829	N	0.295971	T	0.16041	0.0386	L	0.38531	1.155	0.22911	N	0.998573	B	0.30793	0.295	P	0.44477	0.451	T	0.33189	-0.9878	10	0.40728	T	0.16	.	5.2345	0.15439	0.6488:0.0:0.0759:0.2753	.	655	E7EUV1	.	Y	655	ENSP00000415183:N655Y;ENSP00000351956:N655Y	ENSP00000351956:N655Y	N	+	1	0	MUC2	1072714	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	1.731000	0.38135	0.761000	0.33130	0.454000	0.30748	AAC		PASS	0.697	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	Missense_Mutation	15	15	15	15	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1281295	1281295	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:1281295C>G	ENST00000529681.1	+	46	16961	c.16903C>G	c.(16903-16905)Cca>Gca	p.P5635A	MUC5B_ENST00000447027.1_Missense_Mutation_p.P5638A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5635					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P5590T(1)|p.P5635A(1)|p.P5590A(1)|p.P5635T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGCATCCTGCCCAGATGTGTC	0.617																																						uc009ycr.1																			4	Substitution - Missense(4)		lung(4)		0						c.(17914-17916)CCA>GCA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							69.0	75.0	73.0					11																	1281295		2088	4218	6306	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1281295C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16903C>G	11.37:g.1281295C>G	ENSP00000436812:p.Pro5635Ala					MUC5B_uc001ltb.2_Missense_Mutation_p.P5638A	p.P5972A	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	68	18040	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5635					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.17914C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	7.533	0.659123	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.40225	1.04;1.23	5.19	4.27	0.50696	.	.	.	.	.	T	0.55162	0.1903	M	0.80508	2.5	0.22342	N	0.999188	D;D	0.60575	0.979;0.988	P;P	0.55260	0.604;0.772	T	0.53718	-0.8399	9	0.87932	D	0	.	5.8872	0.18888	0.1917:0.7127:0.0:0.0956	.	5972;5638	A7Y9J9;E9PBJ0	.;.	A	5635;5638;5579;534;5347	ENSP00000436812:P5635A;ENSP00000415793:P5638A	ENSP00000343037:P5579A	P	+	1	0	MUC5B	1237871	0.932000	0.31603	0.992000	0.48379	0.133000	0.20885	1.146000	0.31589	2.433000	0.82419	0.561000	0.74099	CCA		PASS	0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		34	10	34	10	---	---	---	---
DUSP8	1850	broad.mit.edu	37	11	1578659	1578659	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:1578659G>C	ENST00000397374.3	-	7	1094	c.967C>G	c.(967-969)Cct>Gct	p.P323A	DUSP8_ENST00000331588.4_Missense_Mutation_p.P323A|DUSP8_ENST00000528778.1_5'Flank	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	323	Pro-rich.|Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P323A(1)		endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CCGGCGGCAGGACTGGGCGGA	0.761																																						uc001lts.2																			1	Substitution - Missense(1)		lung(1)		0						c.(967-969)CCT>GCT		dual specificity phosphatase 8							5.0	8.0	7.0					11																	1578659		1695	3579	5274	SO:0001583	missense	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1578659G>C		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.967C>G	11.37:g.1578659G>C	ENSP00000380530:p.Pro323Ala						p.P323A	NM_004420	NP_004411	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	7	1095	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	323			Tyrosine-protein phosphatase.|Pro-rich.		Q86SS8	Missense_Mutation	SNP	ENST00000397374.3	37	c.967C>G	CCDS7724.1	.	.	.	.	.	.	.	.	.	.	G	0.144	-1.098463	0.01843	.	.	ENSG00000184545	ENST00000397374;ENST00000331588	T;T	0.02197	4.4;4.4	3.48	3.48	0.39840	.	1.216370	0.06274	N	0.696146	T	0.02267	0.0070	N	0.19112	0.55	0.09310	N	0.999998	P	0.37688	0.605	B	0.34093	0.175	T	0.48234	-0.9053	10	0.17832	T	0.49	.	14.1748	0.65534	0.0:0.0:1.0:0.0	.	323	Q13202	DUS8_HUMAN	A	323	ENSP00000380530:P323A;ENSP00000329539:P323A	ENSP00000329539:P323A	P	-	1	0	DUSP8	1535235	0.893000	0.30496	0.332000	0.25469	0.066000	0.16364	1.339000	0.33885	1.760000	0.52011	0.306000	0.20318	CCT		PASS	0.761	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		12	8	12	8	---	---	---	---
OR51F2	119694	broad.mit.edu	37	11	4843409	4843409	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:4843409T>G	ENST00000322110.5	+	1	859	c.794T>G	c.(793-795)tTc>tGc	p.F265C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F265C(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTTCCATCTTCTACCTCCCT	0.478																																						uc010qyn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(793-795)TTC>TGC		olfactory receptor, family 51, subfamily F,							276.0	186.0	217.0					11																	4843409		2201	4298	6499	SO:0001583	missense	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4843409T>G	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.794T>G	11.37:g.4843409T>G	ENSP00000323952:p.Phe265Cys						p.F265C	NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	794	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	265			Helical; Name=6; (Potential).		Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	c.794T>G	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.271517	0.59649	.	.	ENSG00000176925	ENST00000322110	T	0.00299	8.22	4.61	4.61	0.57282	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	U	0.000689	T	0.00967	0.0032	H	0.96080	3.765	0.35731	D	0.817951	D	0.89917	1.0	D	0.97110	1.0	T	0.18178	-1.0345	10	0.87932	D	0	.	8.7824	0.34800	0.1685:0.0:0.0:0.8315	.	265	Q8NH61	O51F2_HUMAN	C	265	ENSP00000323952:F265C	ENSP00000323952:F265C	F	+	2	0	OR51F2	4799985	0.513000	0.26194	1.000000	0.80357	0.981000	0.71138	1.943000	0.40253	2.054000	0.61138	0.459000	0.35465	TTC		PASS	0.478	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		46	35	46	35	---	---	---	---
OR51T1	401665	broad.mit.edu	37	11	4903564	4903564	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:4903564G>A	ENST00000322049.1	+	1	435	c.435G>A	c.(433-435)gtG>gtA	p.V145V	OR51T1_ENST00000380378.1_Silent_p.V172V|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V145V(1)|p.V172V(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTCCTGGTGATAGGGCTGG	0.507																																						uc010qyp.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(514-516)GTG>GTA		olfactory receptor, family 51, subfamily T,							154.0	136.0	142.0					11																	4903564		2201	4298	6499	SO:0001819	synonymous_variant	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903564G>A	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.435G>A	11.37:g.4903564G>A							p.V172V	NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	516	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	145			Helical; Name=4; (Potential).		Q6IFH9	Silent	SNP	ENST00000322049.1	37	c.516G>A																																																																																					PASS	0.507	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		93	51	93	51	---	---	---	---
OR51L1	119682	broad.mit.edu	37	11	5020636	5020636	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:5020636G>T	ENST00000321543.1	+	1	424	c.424G>T	c.(424-426)Gta>Tta	p.V142L		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V142L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCAACAGTGTAATTGGCAA	0.493																																						uc010qyu.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(424-426)GTA>TTA		olfactory receptor, family 51, subfamily L,							319.0	275.0	290.0					11																	5020636		2201	4298	6499	SO:0001583	missense	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020636G>T	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.424G>T	11.37:g.5020636G>T	ENSP00000322156:p.Val142Leu						p.V142L	NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	424	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	142			Helical; Name=4; (Potential).		Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	c.424G>T	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.541000	0.00934	.	.	ENSG00000176798	ENST00000321543	T	0.36699	1.24	5.18	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.616333	0.13446	N	0.387306	T	0.28034	0.0691	L	0.36672	1.1	0.09310	N	1	P	0.35192	0.489	B	0.38683	0.279	T	0.14896	-1.0456	10	0.25106	T	0.35	.	6.5398	0.22375	0.3463:0.0:0.6537:0.0	.	142	Q8NGJ5	O51L1_HUMAN	L	142	ENSP00000322156:V142L	ENSP00000322156:V142L	V	+	1	0	OR51L1	4977212	0.000000	0.05858	0.058000	0.19502	0.051000	0.14879	0.480000	0.22244	0.773000	0.33404	-0.259000	0.10710	GTA		PASS	0.493	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		126	65	126	65	---	---	---	---
OR51M1	390059	broad.mit.edu	37	11	5411314	5411314	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:5411314C>A	ENST00000328611.3	+	1	708	c.686C>A	c.(685-687)tCc>tAc	p.S229Y	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	229					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.S229Y(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCGCACTGTCCTATGGACTC	0.537																																						uc010qzc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(685-687)TCC>TAC		olfactory receptor, family 51, subfamily M,							130.0	126.0	127.0					11																	5411314		2079	4201	6280	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5411314C>A	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.686C>A	11.37:g.5411314C>A	ENSP00000333196:p.Ser229Tyr					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.S229Y	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	686	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	229					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.686C>A	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225213	0.39300	.	.	ENSG00000184698	ENST00000328611	T	0.46063	0.88	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33691	U	0.004660	T	0.78723	0.4328	H	0.98612	4.28	0.37114	D	0.900496	D	0.89917	1.0	D	0.97110	1.0	D	0.89011	0.3428	10	0.87932	D	0	.	17.0595	0.86543	0.0:1.0:0.0:0.0	.	218	Q9H341	O51M1_HUMAN	Y	229	ENSP00000333196:S229Y	ENSP00000333196:S229Y	S	+	2	0	OR51M1	5367890	0.981000	0.34729	0.246000	0.24233	0.346000	0.29079	5.353000	0.66034	2.616000	0.88540	0.655000	0.94253	TCC		PASS	0.537	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		41	24	41	24	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5530345	5530345	+	Silent	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:5530345A>G	ENST00000311659.4	-	2	591	c.444T>C	c.(442-444)cgT>cgC	p.R148R	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	148								p.R148R(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGGAAGCCACGATAGGCCA	0.582																																					Ovarian(72;684 1260 12332 41642 52180)	uc001may.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(442-444)CGT>CGC		ubiquilin 3							44.0	41.0	42.0					11																	5530345		2201	4297	6498	SO:0001819	synonymous_variant	50613							g.chr11:5530345A>G	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.444T>C	11.37:g.5530345A>G						HBG2_uc001mak.1_Intron	p.R148R	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	530	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	148					Q9NRE0	Silent	SNP	ENST00000311659.4	37	c.444T>C	CCDS7758.1																																																																																				PASS	0.582	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		29	17	29	17	---	---	---	---
UBQLNL	143630	broad.mit.edu	37	11	5537581	5537581	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:5537581T>A	ENST00000380184.1	-	1	354	c.91A>T	c.(91-93)Act>Tct	p.T31S	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	31	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.							p.T31S(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		ATCACTCGAGTGGCACTTGAA	0.483																																						uc001maz.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(1)	3						c.(91-93)ACT>TCT		ubiquilin-like							115.0	107.0	110.0					11																	5537581		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5537581T>A	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.91A>T	11.37:g.5537581T>A	ENSP00000369531:p.Thr31Ser					HBG2_uc001mak.1_Intron	p.T31S	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	376	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	31			Ubiquitin-like.		Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.91A>T	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	T	7.633	0.679178	0.14907	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.42131	0.98	5.47	3.06	0.35304	Ubiquitin supergroup (1);Ubiquitin (1);	0.725712	0.12338	N	0.477754	T	0.34221	0.0890	L	0.51422	1.61	0.09310	N	1	B	0.21520	0.057	B	0.15052	0.012	T	0.34775	-0.9815	10	0.72032	D	0.01	.	4.7669	0.13137	0.1649:0.0898:0.0:0.7453	.	31	Q8IYU4	UBQLN_HUMAN	S	31	ENSP00000369531:T31S	ENSP00000369531:T31S	T	-	1	0	UBQLNL	5494157	0.035000	0.19736	0.019000	0.16419	0.229000	0.25112	1.784000	0.38674	0.328000	0.23435	0.528000	0.53228	ACT		PASS	0.483	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		50	30	50	30	---	---	---	---
OR10A6	390093	broad.mit.edu	37	11	7950101	7950101	+	Missense_Mutation	SNP	C	C	A	rs367571136		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:7950101C>A	ENST00000309838.2	-	1	108	c.109G>T	c.(109-111)Gtg>Ttg	p.V37L		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V37L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATCAGGGTCACCAGATAAATA	0.458																																						uc010rbh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(109-111)GTG>TTG		olfactory receptor, family 10, subfamily A,							81.0	80.0	80.0					11																	7950101		2201	4296	6497	SO:0001583	missense	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7950101C>A	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.109G>T	11.37:g.7950101C>A	ENSP00000312470:p.Val37Leu						p.V37L	NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	109	-			37			Helical; Name=1; (Potential).		Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	c.109G>T	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	C	1.813	-0.474257	0.04414	.	.	ENSG00000175393	ENST00000309838	T	0.00587	6.38	4.13	-0.0689	0.13754	.	0.734990	0.11257	N	0.583049	T	0.00300	0.0009	N	0.04686	-0.185	0.09310	N	1	B	0.33883	0.43	B	0.30782	0.12	T	0.33266	-0.9875	10	0.20046	T	0.44	.	0.7666	0.01016	0.1691:0.3782:0.1647:0.288	.	37	Q8NH74	O10A6_HUMAN	L	37	ENSP00000312470:V37L	ENSP00000312470:V37L	V	-	1	0	OR10A6	7906677	0.000000	0.05858	0.210000	0.23637	0.028000	0.11728	-1.773000	0.01786	-0.094000	0.12374	-0.175000	0.13238	GTG		PASS	0.458	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		55	44	55	44	---	---	---	---
C11orf16	56673	broad.mit.edu	37	11	8948685	8948685	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:8948685C>G	ENST00000326053.5	-	4	467	c.361G>C	c.(361-363)Gct>Cct	p.A121P	C11orf16_ENST00000528998.1_5'UTR|C11orf16_ENST00000525780.1_Missense_Mutation_p.A121P	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	121								p.A121P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		ACAAGAGGAGCCTCGAATTCC	0.522																																						uc001mhb.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(361-363)GCT>CCT		hypothetical protein LOC56673							51.0	44.0	47.0					11																	8948685		2201	4296	6497	SO:0001583	missense	56673							g.chr11:8948685C>G	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.361G>C	11.37:g.8948685C>G	ENSP00000318999:p.Ala121Pro					C11orf16_uc001mhc.3_Missense_Mutation_p.A121P	p.A121P	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	4	485	-			121					Q53FB2|Q8N6Y9	Missense_Mutation	SNP	ENST00000326053.5	37	c.361G>C	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523368	0.44866	.	.	ENSG00000176029	ENST00000525780;ENST00000326053	T;T	0.33438	1.42;1.41	5.4	3.55	0.40652	.	0.916355	0.09266	N	0.825832	T	0.42787	0.1218	L	0.60455	1.87	0.20074	N	0.999938	D;D	0.57571	0.98;0.98	P;P	0.56700	0.804;0.804	T	0.16276	-1.0408	10	0.39692	T	0.17	-14.2125	6.8196	0.23849	0.0:0.6707:0.0:0.3293	.	121;121	Q9NQ32-2;Q9NQ32	.;CK016_HUMAN	P	121	ENSP00000436818:A121P;ENSP00000318999:A121P	ENSP00000318999:A121P	A	-	1	0	C11orf16	8905261	0.004000	0.15560	0.713000	0.30519	0.206000	0.24218	0.463000	0.21972	0.667000	0.31107	0.591000	0.81541	GCT		PASS	0.522	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		12	14	12	14	---	---	---	---
GAS2	2620	broad.mit.edu	37	11	22747905	22747905	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:22747905A>G	ENST00000454584.2	+	4	640	c.335A>G	c.(334-336)aAt>aGt	p.N112S	GAS2_ENST00000278187.3_Missense_Mutation_p.N112S|GAS2_ENST00000433790.1_Missense_Mutation_p.N112S	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	112	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)		p.N112S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						GCCAGAGACAATACAGCAAAT	0.398																																						uc009yie.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(334-336)AAT>AGT		growth arrest-specific 2							139.0	143.0	142.0					11																	22747905		2203	4300	6503	SO:0001583	missense	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22747905A>G	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.335A>G	11.37:g.22747905A>G	ENSP00000401145:p.Asn112Ser					GAS2_uc001mqm.2_Missense_Mutation_p.N112S|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Missense_Mutation_p.N112S	p.N112S	NM_001143830	NP_001137302	O43903	GAS2_HUMAN			4	641	+			112			CH.		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	c.335A>G	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.688633	0.48097	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000533363;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	T;T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	5.74	4.61	0.57282	Calponin homology domain (5);	0.099013	0.64402	D	0.000002	D	0.86230	0.5883	H	0.96333	3.805	0.58432	D	0.999994	D	0.76494	0.999	D	0.77557	0.99	D	0.88605	0.3152	10	0.62326	D	0.03	-22.7044	11.7905	0.52068	0.9313:0.0:0.0687:0.0	.	112	O43903	GAS2_HUMAN	S	112	ENSP00000432584:N112S;ENSP00000401145:N112S;ENSP00000434478:N112S;ENSP00000278187:N112S;ENSP00000433182:N112S;ENSP00000435946:N112S;ENSP00000396708:N112S	ENSP00000278187:N112S	N	+	2	0	GAS2	22704481	1.000000	0.71417	0.997000	0.53966	0.022000	0.10575	9.339000	0.96797	0.999000	0.39023	-0.297000	0.09499	AAT		PASS	0.398	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		46	36	46	36	---	---	---	---
GAS2	2620	broad.mit.edu	37	11	22770666	22770666	+	Splice_Site	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:22770666G>T	ENST00000454584.2	+	6	779	c.474G>T	c.(472-474)agG>agT	p.R158S	GAS2_ENST00000278187.3_Splice_Site_p.R158S|GAS2_ENST00000433790.1_Splice_Site_p.R158S	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	158					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)		p.R158S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CTTTTTAAAGGTATGGTGTGG	0.383																																						uc009yie.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(472-474)AGG>AGT		growth arrest-specific 2							71.0	74.0	73.0					11																	22770666		2203	4299	6502	SO:0001630	splice_region_variant	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22770666G>T	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.474-1G>T	11.37:g.22770666G>T						GAS2_uc001mqm.2_Missense_Mutation_p.R158S|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Missense_Mutation_p.R158S	p.R158S	NM_001143830	NP_001137302	O43903	GAS2_HUMAN			6	780	+			158					B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	c.474G>T	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565668	0.86439	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000278187;ENST00000532398;ENST00000433790	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.86	5.86	0.93980	Calponin homology domain (2);	0.046834	0.85682	D	0.000000	T	0.61540	0.2355	L	0.54323	1.7	0.58432	D	0.999993	D	0.69078	0.997	D	0.68765	0.96	T	0.53599	-0.8416	9	.	.	.	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	158	O43903	GAS2_HUMAN	S	158	ENSP00000432584:R158S;ENSP00000401145:R158S;ENSP00000278187:R158S;ENSP00000435946:R158S;ENSP00000396708:R158S	.	R	+	3	2	GAS2	22727242	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.678000	0.54627	2.937000	0.99478	0.650000	0.86243	AGG		PASS	0.383	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553	Missense_Mutation	21	16	21	16	---	---	---	---
LUZP2	338645	broad.mit.edu	37	11	25004678	25004678	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:25004678C>T	ENST00000336930.6	+	9	670	c.604C>T	c.(604-606)Cag>Tag	p.Q202*	LUZP2_ENST00000533227.1_Nonsense_Mutation_p.Q116*			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	202						extracellular region (GO:0005576)		p.Q202*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GTAGGAGTCACAGATGAAAGC	0.418																																						uc001mqs.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(604-606)CAG>TAG		leucine zipper protein 2 precursor							174.0	151.0	159.0					11																	25004678		2203	4300	6503	SO:0001587	stop_gained	338645					extracellular region		g.chr11:25004678C>T	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.604C>T	11.37:g.25004678C>T	ENSP00000336817:p.Gln202*					LUZP2_uc009yif.2_Nonsense_Mutation_p.Q116*|LUZP2_uc009yig.2_Nonsense_Mutation_p.Q160*	p.Q202*	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN			9	838	+			202			Potential.		A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Nonsense_Mutation	SNP	ENST00000336930.6	37	c.604C>T	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748223	0.69533	.	.	ENSG00000187398	ENST00000336930;ENST00000529015;ENST00000533227	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-18.7179	17.3121	0.87212	0.0:1.0:0.0:0.0	.	.	.	.	X	202;160;116	.	ENSP00000336817:Q202X	Q	+	1	0	LUZP2	24961254	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.935000	0.70145	2.770000	0.95276	0.650000	0.86243	CAG		PASS	0.418	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		67	40	67	40	---	---	---	---
ACCSL	390110	broad.mit.edu	37	11	44081390	44081390	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:44081390A>G	ENST00000378832.1	+	14	1683	c.1627A>G	c.(1627-1629)Atg>Gtg	p.M543V		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	543					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)	p.M543V(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CCCTCTAGCTATGCGTCGGTT	0.512																																						uc001mxw.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1627-1629)ATG>GTG		1-aminocyclopropane-1-carboxylate synthase							352.0	345.0	347.0					11																	44081390		2002	4178	6180	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44081390A>G		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1627A>G	11.37:g.44081390A>G	ENSP00000368109:p.Met543Val					ACCSL_uc009ykr.2_Missense_Mutation_p.M362V	p.M543V	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN			14	1683	+			543						Missense_Mutation	SNP	ENST00000378832.1	37	c.1627A>G	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.570783	0.45798	.	.	ENSG00000205126	ENST00000378832	T	0.19532	2.14	3.74	2.62	0.31277	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.214636	0.47455	D	0.000236	T	0.25306	0.0615	L	0.52364	1.645	0.38185	D	0.939735	P	0.42908	0.793	P	0.49953	0.627	T	0.05903	-1.0857	10	0.54805	T	0.06	-10.3054	5.7517	0.18150	0.879:0.0:0.121:0.0	.	543	Q4AC99	1A1L2_HUMAN	V	543	ENSP00000368109:M543V	ENSP00000368109:M543V	M	+	1	0	ACCSL	44037966	1.000000	0.71417	0.696000	0.30242	0.218000	0.24690	3.342000	0.52159	0.805000	0.34159	0.459000	0.35465	ATG		PASS	0.512	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		218	147	218	147	---	---	---	---
CD82	3732	broad.mit.edu	37	11	44639800	44639802	+	Nonsense_Mutation	TNP	GCG	GCG	TTT	rs139816598|rs370975589	byFrequency	TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:44639800_44639802GCG>TTT	ENST00000227155.4	+	8	775_777	c.527_529GCG>TTT	c.(526-531)tGCGaa>tTTTaa	p.176_177CE>F*	CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Nonsense_Mutation_p.151_152CE>F*	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	176						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.C176C(1)|p.C176F(1)|p.E177*(1)		large_intestine(1)|ovary(1)	2						CCCTGTTCCTGCGAAGTCAAGGG	0.606																																						uc001myc.2																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(526-528)TGC>TTC|c.(526-528)TGC>TGT|c.(529-531)GAA>TAA		CD82 antigen isoform 1																																				SO:0001587	stop_gained	3732					integral to plasma membrane	protein binding	g.chr11:44639800G>T|g.chr11:44639801C>T|g.chr11:44639802G>T	U20770	CCDS7909.1, CCDS31469.1	11p11.2	2013-02-14	2006-03-28	2005-03-03		ENSG00000085117		"""CD molecules"", ""Tetraspanins"""	6210	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 6"", ""R2 leukocyte antigen"""	600623	"""kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))"", ""CD82 antigen"""	ST6, KAI1			Standard	XM_006718222		Approved	R2, IA4, TSPAN27	uc001myc.3	P27701		ENST00000227155.4:c.527_529GCG>TTT	11.37:g.44639800GCG>TTT	ENSP00000227155:p.C176_E177delinsF*					CD82_uc001myd.2_Missense_Mutation_p.C151F|CD82_uc001myd.2_Silent_p.C151C|CD82_uc001myd.2_Nonsense_Mutation_p.E152*	p.C176F|p.C176C|p.E177*	NM_002231	NP_002222	P27701	CD82_HUMAN			8	775|776|777	+			176|176|177			Extracellular (Potential).		D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2	Missense_Mutation|Silent|Nonsense_Mutation	SNP	ENST00000227155.4	37	c.527G>T|c.528C>T|c.529G>T	CCDS7909.1																																																																																				PASS	0.606	CD82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389886.1			11|11|14	25	11	25	---	---	---	---
RAPSN	5913	broad.mit.edu	37	11	47463443	47463443	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:47463443C>T	ENST00000298854.2	-	4	934	c.721G>A	c.(721-723)Gac>Aac	p.D241N	RAPSN_ENST00000352508.3_Missense_Mutation_p.D241N|RNU6-1302P_ENST00000516518.1_RNA|RAPSN_ENST00000524487.1_Missense_Mutation_p.D188N|RAPSN_ENST00000529341.1_Missense_Mutation_p.D241N|RAPSN_ENST00000528356.1_5'Flank	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	241					positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)	p.D241N(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						AGTGGCCGGTCCCCGTGCTGC	0.672																																						uc001nfi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(721-723)GAC>AAC		43 kD receptor-associated protein of the synapse							15.0	16.0	16.0					11																	47463443		2199	4285	6484	SO:0001583	missense	5913				synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding	g.chr11:47463443C>T		CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"""RING-type (C3HC4) zinc fingers"""	9863	protein-coding gene	gene with protein product	"""rapsyn"""	601592	"""receptor-associated protein of the synapse, 43kD"""			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.721G>A	11.37:g.47463443C>T	ENSP00000298854:p.Asp241Asn					RAPSN_uc001nfj.1_Missense_Mutation_p.D241N|RAPSN_uc009yls.1_Missense_Mutation_p.D241N	p.D241N	NM_005055	NP_005046	Q13702	RAPSN_HUMAN			4	935	-			241					Q8TDF3|Q9BTD9	Missense_Mutation	SNP	ENST00000298854.2	37	c.721G>A	CCDS7936.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892212	0.72524	.	.	ENSG00000165917	ENST00000298854;ENST00000352508;ENST00000524487;ENST00000529341	D;D;T;D	0.97114	-3.53;-4.18;1.18;-4.25	4.79	4.79	0.61399	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.97414	0.9154	L	0.49513	1.565	0.80722	D	1	P;P;P	0.52061	0.876;0.725;0.95	P;P;P	0.61328	0.562;0.595;0.887	D	0.96998	0.9727	10	0.35671	T	0.21	-53.5323	18.1851	0.89790	0.0:1.0:0.0:0.0	.	241;241;241	E9PK11;Q13702-2;Q13702	.;.;RAPSN_HUMAN	N	241;241;188;241	ENSP00000298854:D241N;ENSP00000298853:D241N;ENSP00000435551:D188N;ENSP00000431732:D241N	ENSP00000298854:D241N	D	-	1	0	RAPSN	47420019	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.442000	0.80503	2.360000	0.80028	0.563000	0.77884	GAC		PASS	0.672	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391726.1			9	9	9	9	---	---	---	---
OR4C13	283092	broad.mit.edu	37	11	49974079	49974079	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:49974079C>G	ENST00000555099.1	+	1	137	c.105C>G	c.(103-105)aaC>aaG	p.N35K		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N35K(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCTACATCAACGCCATGATAG	0.408																																						uc010rhz.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(103-105)AAC>AAG		olfactory receptor, family 4, subfamily C,							211.0	194.0	200.0					11																	49974079		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974079C>G	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.105C>G	11.37:g.49974079C>G	ENSP00000452277:p.Asn35Lys						p.N35K	NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN			1	105	+			35			Helical; Name=1; (Potential).		A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.105C>G	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	1.478	-0.558087	0.03967	.	.	ENSG00000258817	ENST00000555099	T	0.00428	7.44	2.95	0.911	0.19343	.	0.828285	0.10044	N	0.723064	T	0.00178	0.0005	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16689	-1.0394	9	.	.	.	.	3.6985	0.08374	0.4271:0.4432:0.0:0.1297	.	35	Q8NGP0	OR4CD_HUMAN	K	35	ENSP00000452277:N35K	.	N	+	3	2	OR4C13	49930655	0.000000	0.05858	0.003000	0.11579	0.033000	0.12548	-2.681000	0.00837	0.091000	0.17302	0.195000	0.17529	AAC		PASS	0.408	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		118	60	118	60	---	---	---	---
OR4S2	219431	broad.mit.edu	37	11	55418726	55418726	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:55418726T>A	ENST00000312422.2	+	1	347	c.347T>A	c.(346-348)aTg>aAg	p.M116K		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M116K(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CTTACTGTAATGGCCTATGAT	0.423																																						uc001nhs.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(346-348)ATG>AAG		olfactory receptor, family 4, subfamily S,							209.0	176.0	187.0					11																	55418726		2180	4035	6215	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418726T>A	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.347T>A	11.37:g.55418726T>A	ENSP00000310337:p.Met116Lys						p.M116K	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	347	+		all_epithelial(135;0.0748)	116			Helical; Name=3; (Potential).		Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.347T>A	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.449516	0.63178	.	.	ENSG00000174982	ENST00000312422	T	0.01159	5.25	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.12518	0.0304	H	0.97131	3.945	0.54753	D	0.999988	D	0.89917	1.0	D	0.83275	0.996	T	0.02047	-1.1223	10	0.87932	D	0	.	14.1779	0.65555	0.0:0.0:0.0:1.0	.	116	Q8NH73	OR4S2_HUMAN	K	116	ENSP00000310337:M116K	ENSP00000310337:M116K	M	+	2	0	OR4S2	55175302	1.000000	0.71417	0.991000	0.47740	0.302000	0.27658	5.146000	0.64845	2.031000	0.59945	0.448000	0.29417	ATG		PASS	0.423	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		105	27	105	27	---	---	---	---
OR5D14	219436	broad.mit.edu	37	11	55563067	55563067	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:55563067C>A	ENST00000335605.1	+	1	36	c.36C>A	c.(34-36)ccC>ccA	p.P12P		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P12P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GCATGGAGCCCACCTTTGCCC	0.413																																						uc010rim.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(34-36)CCC>CCA		olfactory receptor, family 5, subfamily D,							112.0	110.0	111.0					11																	55563067		2200	4296	6496	SO:0001819	synonymous_variant	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563067C>A	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.36C>A	11.37:g.55563067C>A							p.P12P	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	36	+		all_epithelial(135;0.196)	12			Extracellular (Potential).		Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	ENST00000335605.1	37	c.36C>A	CCDS31508.1																																																																																				PASS	0.413	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		62	99	62	99	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587917	55587917	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:55587917C>A	ENST00000333976.4	+	1	832	c.812C>A	c.(811-813)aCa>aAa	p.T271K		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T271K(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCCAGGCACACAGTCAAAGTG	0.507																																						uc010rin.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(811-813)ACA>AAA		olfactory receptor, family 5, subfamily D,							89.0	86.0	87.0					11																	55587917		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587917C>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.812C>A	11.37:g.55587917C>A	ENSP00000335025:p.Thr271Lys						p.T271K	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	812	+		all_epithelial(135;0.208)	271			Extracellular (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.812C>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	10.47	1.359836	0.24598	.	.	ENSG00000186119	ENST00000333976	T	0.00099	8.73	4.82	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001058	T	0.00144	0.0004	N	0.10972	0.075	0.31909	N	0.614918	B	0.33904	0.431	B	0.42593	0.392	T	0.65639	-0.6119	10	0.52906	T	0.07	-3.602	12.9205	0.58230	0.1629:0.8371:0.0:0.0	.	271	Q8NGL1	OR5DI_HUMAN	K	271	ENSP00000335025:T271K	ENSP00000335025:T271K	T	+	2	0	OR5D18	55344493	0.000000	0.05858	0.918000	0.36340	0.301000	0.27625	-1.923000	0.01567	2.413000	0.81919	0.573000	0.79308	ACA		PASS	0.507	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		42	82	42	82	---	---	---	---
OR5D16	390144	broad.mit.edu	37	11	55606495	55606495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:55606495G>T	ENST00000378396.1	+	1	268	c.268G>T	c.(268-270)Gaa>Taa	p.E90*		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E90*(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCTGGTTGTAGAAGATAGAAC	0.408																																						uc010rio.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(1)	5						c.(268-270)GAA>TAA		olfactory receptor, family 5, subfamily D,							200.0	196.0	197.0					11																	55606495		2201	4296	6497	SO:0001587	stop_gained	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606495G>T	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.268G>T	11.37:g.55606495G>T	ENSP00000367649:p.Glu90*						p.E90*	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	268	+		all_epithelial(135;0.208)	90			Extracellular (Potential).		Q6IF65|Q96RB4	Nonsense_Mutation	SNP	ENST00000378396.1	37	c.268G>T	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	15.01	2.707538	0.48412	.	.	ENSG00000205029	ENST00000378396	.	.	.	4.05	2.12	0.27331	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-3.3486	8.1099	0.30909	0.0915:0.1597:0.7488:0.0	.	.	.	.	X	90	.	ENSP00000367649:E90X	E	+	1	0	OR5D16	55363071	0.000000	0.05858	0.159000	0.22649	0.869000	0.49853	-1.856000	0.01662	0.315000	0.23110	0.530000	0.56133	GAA		PASS	0.408	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		95	214	95	214	---	---	---	---
OR1S2	219958	broad.mit.edu	37	11	57971379	57971379	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:57971379G>T	ENST00000302592.6	-	1	274	c.275C>A	c.(274-276)cCc>cAc	p.P92H		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P92H(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CAGCATTTTGGGGACTGAGTT	0.418																																						uc010rkb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(274-276)CCC>CAC		olfactory receptor, family 1, subfamily S,							184.0	173.0	177.0					11																	57971379		2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57971379G>T	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.275C>A	11.37:g.57971379G>T	ENSP00000305469:p.Pro92His						p.P92H	NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN			1	275	-		Breast(21;0.0589)	92			Helical; Name=2; (Potential).		Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.275C>A	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175244	0.78564	.	.	ENSG00000197887	ENST00000302592	T	0.01871	4.59	4.47	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000251	T	0.10252	0.0251	H	0.98027	4.13	0.52099	D	0.999945	P	0.37398	0.593	B	0.33890	0.172	T	0.08597	-1.0714	10	0.87932	D	0	.	16.2399	0.82401	0.0:0.0:1.0:0.0	.	92	Q8NGQ3	OR1S2_HUMAN	H	92	ENSP00000305469:P92H	ENSP00000305469:P92H	P	-	2	0	OR1S2	57727955	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	9.304000	0.96190	2.481000	0.83766	0.655000	0.94253	CCC		PASS	0.418	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		55	136	55	136	---	---	---	---
OR4D10	390197	broad.mit.edu	37	11	59245336	59245336	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:59245336C>T	ENST00000530162.1	+	1	491	c.434C>T	c.(433-435)aCa>aTa	p.T145I		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T145I(1)|p.T143I(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATTGGGCTCACAGTGGCTGCC	0.517																																						uc001nnz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(433-435)ACA>ATA		olfactory receptor, family 4, subfamily D,							86.0	89.0	88.0					11																	59245336		2200	4295	6495	SO:0001583	missense	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245336C>T	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.434C>T	11.37:g.59245336C>T	ENSP00000436424:p.Thr145Ile						p.T145I	NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN			1	434	+			145			Helical; Name=4; (Potential).		B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	c.434C>T	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.438330	0.01098	.	.	ENSG00000254466	ENST00000530162	T	0.30714	1.52	4.71	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.11707	0.0285	N	0.02296	-0.605	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32188	-0.9916	9	0.26408	T	0.33	.	8.1457	0.31110	0.0:0.2469:0.0:0.7531	.	145	Q8NGI6	OR4DA_HUMAN	I	145	ENSP00000436424:T145I	ENSP00000436424:T145I	T	+	2	0	OR4D10	59001912	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.476000	0.22180	-0.012000	0.14223	-1.004000	0.02495	ACA		PASS	0.517	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		55	106	55	106	---	---	---	---
MS4A3	932	broad.mit.edu	37	11	59828660	59828660	+	Silent	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:59828660A>T	ENST00000278865.3	+	2	100	c.27A>T	c.(25-27)gcA>gcT	p.A9A	MS4A3_ENST00000534744.1_Silent_p.A9A|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Silent_p.A9A	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	9						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.A9A(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TTGATAATGCAGAGCTGGGGT	0.493																																						uc001nom.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(25-27)GCA>GCT		membrane-spanning 4-domains, subfamily A, member							85.0	84.0	84.0					11																	59828660		2201	4295	6496	SO:0001819	synonymous_variant	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59828660A>T	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.27A>T	11.37:g.59828660A>T						MS4A3_uc001non.2_Silent_p.A9A|MS4A3_uc001noo.2_Intron	p.A9A	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			2	155	+		all_epithelial(135;0.245)	9			Cytoplasmic (Potential).		A8MTP8|Q8NHW2	Silent	SNP	ENST00000278865.3	37	c.27A>T	CCDS31567.1																																																																																				PASS	0.493	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			63	72	63	72	---	---	---	---
MS4A2	2206	broad.mit.edu	37	11	59857232	59857232	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:59857232G>A	ENST00000278888.3	+	2	226	c.124G>A	c.(124-126)Gcc>Acc	p.A42T		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	42					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.A42T(1)		endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	ATTGAAGTCGGCCTCATCCCC	0.458																																						uc001nop.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(124-126)GCC>ACC		membrane-spanning 4-domains, subfamily A, member	Omalizumab(DB00043)						110.0	106.0	108.0					11																	59857232		2201	4295	6496	SO:0001583	missense	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59857232G>A	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.124G>A	11.37:g.59857232G>A	ENSP00000278888:p.Ala42Thr					MS4A2_uc009ymu.2_Missense_Mutation_p.A42T	p.A42T	NM_000139	NP_000130	Q01362	FCERB_HUMAN			2	226	+		all_epithelial(135;0.245)	42			Cytoplasmic (Potential).		Q54A81	Missense_Mutation	SNP	ENST00000278888.3	37	c.124G>A	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	G	7.922	0.738852	0.15642	.	.	ENSG00000149534	ENST00000278888	T	0.20463	2.07	4.08	-1.48	0.08745	.	9.349910	0.00166	N	0.000000	T	0.10380	0.0254	N	0.12182	0.205	0.09310	N	1	B	0.18310	0.027	B	0.18263	0.021	T	0.16335	-1.0406	10	0.08837	T	0.75	1.1125	4.3146	0.10986	0.3901:0.1688:0.4412:0.0	.	42	Q01362	FCERB_HUMAN	T	42	ENSP00000278888:A42T	ENSP00000278888:A42T	A	+	1	0	MS4A2	59613808	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	0.240000	0.18042	-0.261000	0.09405	0.460000	0.39030	GCC		PASS	0.458	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			68	59	68	59	---	---	---	---
MS4A4A	51338	broad.mit.edu	37	11	60059718	60059718	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:60059718C>A	ENST00000337908.4	+	2	152	c.62C>A	c.(61-63)aCa>aAa	p.T21K	MS4A4A_ENST00000395016.3_Missense_Mutation_p.T2K|MS4A4A_ENST00000355131.3_Missense_Mutation_p.T2K|MS4A4A_ENST00000532114.1_Missense_Mutation_p.T21K	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	21						integral component of membrane (GO:0016021)		p.T21K(1)|p.T2K(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						GCTGCCATGACAACCATGCAA	0.493																																						uc001noz.2																			2	Substitution - Missense(2)		lung(2)		0						c.(61-63)ACA>AAA		membrane-spanning 4-domains, subfamily A, member							75.0	75.0	75.0					11																	60059718		2203	4300	6503	SO:0001583	missense	51338					integral to membrane	receptor activity	g.chr11:60059718C>A	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.62C>A	11.37:g.60059718C>A	ENSP00000338648:p.Thr21Lys					MS4A4A_uc001npa.2_Missense_Mutation_p.T2K|MS4A4A_uc001npb.2_Missense_Mutation_p.T2K|MS4A4A_uc001npc.2_Missense_Mutation_p.T2K	p.T21K	NM_148975	NP_683876	Q96JQ5	M4A4A_HUMAN			2	72	+			21			Cytoplasmic (Potential).		Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Missense_Mutation	SNP	ENST00000337908.4	37	c.62C>A	CCDS7982.1	.	.	.	.	.	.	.	.	.	.	c	16.25	3.068990	0.55539	.	.	ENSG00000110079	ENST00000532114;ENST00000337908;ENST00000355131;ENST00000395016	T;T;T;T	0.19532	2.14;2.99;3.11;3.11	2.94	0.889	0.19212	.	7.221570	0.00447	U	0.000093	T	0.22085	0.0532	L	0.34521	1.04	0.09310	N	1	D;D	0.56521	0.97;0.976	P;P	0.49192	0.602;0.524	T	0.08126	-1.0737	10	0.45353	T	0.12	-1.1555	2.9219	0.05772	0.2707:0.5691:0.0:0.1603	.	21;21	Q96JQ5-2;Q96JQ5	.;M4A4A_HUMAN	K	21;21;2;2	ENSP00000434506:T21K;ENSP00000338648:T21K;ENSP00000347252:T2K;ENSP00000378462:T2K	ENSP00000338648:T21K	T	+	2	0	MS4A4A	59816294	0.000000	0.05858	0.001000	0.08648	0.857000	0.48899	-1.067000	0.03451	0.232000	0.21100	0.460000	0.39030	ACA		PASS	0.493	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			59	86	59	86	---	---	---	---
BSCL2	26580	broad.mit.edu	37	11	62472874	62472874	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:62472874G>A	ENST00000403550.1	-	2	534	c.111C>T	c.(109-111)acC>acT	p.T37T	BSCL2_ENST00000407022.3_Silent_p.T37T|BSCL2_ENST00000278893.7_Silent_p.T37T|BSCL2_ENST00000421906.1_Silent_p.T37T|BSCL2_ENST00000433053.1_Silent_p.T101T|BSCL2_ENST00000360796.5_Silent_p.T101T|BSCL2_ENST00000405837.1_Silent_p.T101T|BSCL2_ENST00000537604.1_Intron|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|GNG3_ENST00000294117.5_5'Flank			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	37					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)		p.T37T(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						AAAGGAGGATGGTGCAGAAGA	0.572																																						uc001nuo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(109-111)ACC>ACT		seipin isoform 2							66.0	59.0	61.0					11																	62472874		2202	4299	6501	SO:0001819	synonymous_variant	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62472874G>A		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.111C>T	11.37:g.62472874G>A						BSCL2_uc009yoc.1_Silent_p.T37T|BSCL2_uc001nup.2_Silent_p.T37T|BSCL2_uc001nuq.1_Silent_p.T37T|BSCL2_uc001nur.3_Silent_p.T101T|BSCL2_uc009yod.2_Silent_p.T101T|BSCL2_uc001nut.3_Silent_p.T101T|HNRNPUL2_uc001nuu.1_RNA|GNG3_uc001nuv.2_5'Flank	p.T37T	NM_032667	NP_116056	Q96G97	BSCL2_HUMAN			2	535	-			37			Helical; (Potential).		G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Silent	SNP	ENST00000403550.1	37	c.111C>T	CCDS8031.1																																																																																				PASS	0.572	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		30	61	30	61	---	---	---	---
EFEMP2	30008	broad.mit.edu	37	11	65635425	65635425	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:65635425G>T	ENST00000307998.6	-	10	1307	c.1077C>A	c.(1075-1077)gaC>gaA	p.D359E	EFEMP2_ENST00000528176.1_Missense_Mutation_p.D359E|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	359					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)	p.D359E(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TCTGGAACACGTCAGCGGGCA	0.587																																						uc001ofy.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1075-1077)GAC>GAA		EGF-containing fibulin-like extracellular matrix							116.0	107.0	110.0					11																	65635425		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65635425G>T	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.1077C>A	11.37:g.65635425G>T	ENSP00000309953:p.Asp359Glu					EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.D359E	p.D359E	NM_016938	NP_058634	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	10	1271	-			359					A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.1077C>A	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636387	0.67130	.	.	ENSG00000172638	ENST00000526911;ENST00000531645;ENST00000528176;ENST00000307998;ENST00000530806	D;T;D;T;T	0.86366	-2.11;-1.45;-1.56;-1.47;-0.94	5.37	0.589	0.17452	.	0.000000	0.56097	D	0.000038	T	0.77624	0.4158	L	0.51914	1.62	0.43512	D	0.995779	B;B	0.33826	0.37;0.427	B;B	0.29353	0.101;0.062	T	0.64575	-0.6375	10	0.33141	T	0.24	.	4.6844	0.12750	0.3573:0.0:0.4993:0.1434	.	359;359	E9PRU1;O95967	.;FBLN4_HUMAN	E	18;75;359;359;12	ENSP00000436536:D18E;ENSP00000436521:D75E;ENSP00000434151:D359E;ENSP00000309953:D359E;ENSP00000436526:D12E	ENSP00000309953:D359E	D	-	3	2	EFEMP2	65392001	1.000000	0.71417	0.958000	0.39756	0.988000	0.76386	0.951000	0.29135	-0.151000	0.11176	0.455000	0.32223	GAC		PASS	0.587	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		55	134	55	134	---	---	---	---
EFEMP2	30008	broad.mit.edu	37	11	65635437	65635437	+	Missense_Mutation	SNP	G	G	C	rs377646143		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:65635437G>C	ENST00000307998.6	-	10	1295	c.1065C>G	c.(1063-1065)agC>agG	p.S355R	EFEMP2_ENST00000528176.1_Missense_Mutation_p.S355R|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	355				RSV -> AER (in Ref. 2; AAC62108). {ECO:0000305}.|S -> R (in Ref. 3; AAF65188). {ECO:0000305}.	blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)	p.S355R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CAGCGGGCACGCTCCGCTCCG	0.602																																						uc001ofy.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1063-1065)AGC>AGG		EGF-containing fibulin-like extracellular matrix							111.0	101.0	104.0					11																	65635437		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65635437G>C	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.1065C>G	11.37:g.65635437G>C	ENSP00000309953:p.Ser355Arg					EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.S355R	p.S355R	NM_016938	NP_058634	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	10	1259	-			355	RSV -> AER (in Ref. 2; AAC62108).|S -> R (in Ref. 3; AAF65188).				A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.1065C>G	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843329	0.71488	.	.	ENSG00000172638	ENST00000526911;ENST00000531645;ENST00000528176;ENST00000307998;ENST00000530806	D;D;D;D;T	0.85171	-1.95;-1.55;-1.62;-1.51;-0.92	5.37	1.38	0.22167	.	0.000000	0.64402	D	0.000006	T	0.82135	0.4971	M	0.64567	1.98	0.53688	D	0.999972	B;D	0.54397	0.36;0.966	B;P	0.48368	0.159;0.575	T	0.75847	-0.3173	10	0.16420	T	0.52	.	8.4684	0.32971	0.3341:0.0:0.6659:0.0	.	355;355	E9PRU1;O95967	.;FBLN4_HUMAN	R	14;71;355;355;8	ENSP00000436536:S14R;ENSP00000436521:S71R;ENSP00000434151:S355R;ENSP00000309953:S355R;ENSP00000436526:S8R	ENSP00000309953:S355R	S	-	3	2	EFEMP2	65392013	0.793000	0.28825	0.998000	0.56505	0.977000	0.68977	-0.197000	0.09518	0.008000	0.14787	0.455000	0.32223	AGC		PASS	0.602	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		86	81	86	81	---	---	---	---
C11orf80	79703	broad.mit.edu	37	11	66568167	66568167	+	Splice_Site	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:66568167G>C	ENST00000360962.4	+	7	780	c.773G>C	c.(772-774)gGg>gCg	p.G258A	C11orf80_ENST00000346672.4_Splice_Site_p.G103A|C11orf80_ENST00000540737.1_Splice_Site_p.G92A|C11orf80_ENST00000525449.2_Splice_Site_p.G103A|C11orf80_ENST00000527634.1_Splice_Site_p.G39A|C11orf80_ENST00000532565.2_Splice_Site_p.G39A	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	258								p.G258A(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GAGATCTTTGGGTAAGTTCTT	0.363																																						uc001ojf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(772-774)GGG>GCG		hypothetical protein LOC79703							116.0	101.0	106.0					11																	66568167		1833	4085	5918	SO:0001630	splice_region_variant	79703							g.chr11:66568167G>C			11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.773+1G>C	11.37:g.66568167G>C						C11orf80_uc001ojg.2_Missense_Mutation_p.G24A|C11orf80_uc001ojh.2_Missense_Mutation_p.G24A|C11orf80_uc001oji.2_Missense_Mutation_p.G24A|C11orf80_uc010rpk.1_Missense_Mutation_p.G92A	p.G258A	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN			7	780	+			103					Q9H677	Missense_Mutation	SNP	ENST00000360962.4	37	c.773G>C	CCDS53664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.77|18.77	3.695266|3.695266	0.68386|0.68386	.|.	.|.	ENSG00000173715|ENSG00000173715	ENST00000524551;ENST00000525908;ENST00000360962;ENST00000346672;ENST00000527634;ENST00000528340;ENST00000540737;ENST00000525449|ENST00000532089	T;T|.	0.60299|.	0.2;1.1|.	6.14|6.14	3.32|3.32	0.38043|0.38043	.|.	0.374323|.	0.26119|.	N|.	0.026222|.	T|T	0.33059|0.33059	0.0850|0.0850	L|L	0.29908|0.29908	0.895|0.895	0.30441|0.30441	N|N	0.776235|0.776235	P;P;D|.	0.56035|.	0.93;0.93;0.974|.	P;P;P|.	0.50162|.	0.633;0.633;0.582|.	T|T	0.28235|0.28235	-1.0050|-1.0050	10|5	0.42905|.	T|.	0.14|.	-3.7178|-3.7178	8.3945|8.3945	0.32548|0.32548	0.2382:0.0:0.7618:0.0|0.2382:0.0:0.7618:0.0	.|.	39;103;92|.	E9PKM2;Q8N6T0;E9PKZ8|.	.;CK080_HUMAN;.|.	A|L	39;209;258;103;39;92;92;103|84	ENSP00000432039:G209A;ENSP00000354227:G258A|.	ENSP00000317408:G103A|.	G|V	+|+	2|1	0|0	C11orf80|C11orf80	66324743|66324743	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.979000|0.979000	0.70002|0.70002	1.212000|1.212000	0.32394|0.32394	0.501000|0.501000	0.28013|0.28013	0.650000|0.650000	0.86243|0.86243	GGG|GTA		PASS	0.363	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650	Missense_Mutation	8	27	8	27	---	---	---	---
PC	5091	broad.mit.edu	37	11	66618314	66618314	+	Silent	SNP	C	C	A	rs61731787		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:66618314C>A	ENST00000393958.2	-	17	2397	c.2304G>T	c.(2302-2304)ctG>ctT	p.L768L	PC_ENST00000393960.1_Silent_p.L768L|PC_ENST00000528224.1_5'Flank|PC_ENST00000393955.2_Silent_p.L768L|PC_ENST00000529047.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	768	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.L768L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TGTGGATGTGCAGTGGGAGGT	0.662																																						uc001ojn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|kidney(1)	4						c.(2302-2304)CTG>CTT		pyruvate carboxylase precursor	Biotin(DB00121)|Pyruvic acid(DB00119)						48.0	51.0	50.0					11																	66618314		2200	4294	6494	SO:0001819	synonymous_variant	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66618314C>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2304G>T	11.37:g.66618314C>A						PC_uc001ojo.1_Silent_p.L768L|PC_uc001ojp.1_Silent_p.L768L|PC_uc001ojm.1_5'Flank	p.L768L	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	16	2353	-		Melanoma(852;0.0525)	768			Carboxyltransferase.		B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	c.2304G>T	CCDS8152.1																																																																																				PASS	0.662	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		20	61	20	61	---	---	---	---
NDUFV1	4723	broad.mit.edu	37	11	67379393	67379393	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:67379393G>A	ENST00000322776.6	+	8	1259	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	NDUFV1_ENST00000415352.2_Missense_Mutation_p.R362H|NDUFV1_ENST00000526169.1_3'UTR|DOC2GP_ENST00000495263.1_RNA|NDUFV1_ENST00000529927.1_Missense_Mutation_p.R360H|NDUFV1_ENST00000532303.1_Missense_Mutation_p.R268H	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	369					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.R369H(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						GCCATCGCCCGCCTCATTGAG	0.617																																						uc001omj.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1105-1107)CGC>CAC		NADH dehydrogenase ubiquinone flavoprotein 1	NADH(DB00157)						126.0	113.0	117.0					11																	67379393		2200	4294	6494	SO:0001583	missense	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67379393G>A	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.1106G>A	11.37:g.67379393G>A	ENSP00000322450:p.Arg369His					NDUFV1_uc010rpv.1_Missense_Mutation_p.R268H|NDUFV1_uc001oml.2_Missense_Mutation_p.R362H|NDUFV1_uc001omk.3_Missense_Mutation_p.R360H|NDUFV1_uc009yrz.1_Silent_p.P228P|NDUFV1_uc010rpw.1_Missense_Mutation_p.R78H	p.R369H	NM_007103	NP_009034	P49821	NDUV1_HUMAN			8	1259	+			369					O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Missense_Mutation	SNP	ENST00000322776.6	37	c.1106G>A	CCDS8173.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057711	0.93846	.	.	ENSG00000167792	ENST00000322776;ENST00000532303;ENST00000529927;ENST00000415352;ENST00000453836	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	4.89	3.96	0.45880	NADH ubiquinone oxidoreductase, F subunit, iron sulphur binding (2);	0.000000	0.85682	D	0.000000	D	0.93966	0.8068	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	0.993;0.993;1.0	P;P;D	0.97110	0.813;0.761;1.0	D	0.94691	0.7874	10	0.87932	D	0	-21.5736	12.9956	0.58644	0.0859:0.0:0.9141:0.0	.	362;360;369	G3V0I5;P49821-2;P49821	.;.;NDUV1_HUMAN	H	369;268;360;362;240	ENSP00000322450:R369H;ENSP00000432015:R268H;ENSP00000436766:R360H;ENSP00000395368:R362H	ENSP00000322450:R369H	R	+	2	0	NDUFV1	67135969	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.562000	0.82300	2.419000	0.82065	0.491000	0.48974	CGC		PASS	0.617	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103		49	104	49	104	---	---	---	---
ACY3	91703	broad.mit.edu	37	11	67413302	67413302	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:67413302T>A	ENST00000255082.3	-	4	463	c.293A>T	c.(292-294)cAg>cTg	p.Q98L	ACY3_ENST00000529256.1_5'UTR	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	98	Hydrolytic domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)	p.Q98L(1)		endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	CCCCAGCAGCTGGTTCAGCTC	0.607																																					GBM(56;346 1011 27014 29495 46841)	uc001omq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(292-294)CAG>CTG		aspartoacylase 3	L-Aspartic Acid(DB00128)						109.0	115.0	113.0					11																	67413302		2200	4294	6494	SO:0001583	missense	91703				interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	g.chr11:67413302T>A	BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.293A>T	11.37:g.67413302T>A	ENSP00000255082:p.Gln98Leu						p.Q98L	NM_080658	NP_542389	Q96HD9	ACY3_HUMAN			4	464	-			98						Missense_Mutation	SNP	ENST00000255082.3	37	c.293A>T	CCDS8175.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.428581	0.43122	.	.	ENSG00000132744	ENST00000255082	D	0.98028	-4.67	4.29	3.15	0.36227	.	0.495465	0.20502	N	0.091063	D	0.96065	0.8718	M	0.73598	2.24	0.80722	D	1	P	0.35982	0.531	B	0.38020	0.263	D	0.94072	0.7336	10	0.28530	T	0.3	.	8.4777	0.33023	0.0:0.0976:0.0:0.9024	.	98	Q96HD9	ACY3_HUMAN	L	98	ENSP00000255082:Q98L	ENSP00000255082:Q98L	Q	-	2	0	ACY3	67169878	0.002000	0.14202	1.000000	0.80357	0.957000	0.61999	-0.122000	0.10627	1.718000	0.51419	0.459000	0.35465	CAG		PASS	0.607	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1	NM_080658		78	158	78	158	---	---	---	---
NADSYN1	55191	broad.mit.edu	37	11	71209527	71209527	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:71209527C>G	ENST00000319023.2	+	20	2211	c.2023C>G	c.(2023-2025)Ctg>Gtg	p.L675V	NADSYN1_ENST00000530055.1_Missense_Mutation_p.L304V|NADSYN1_ENST00000539574.1_Missense_Mutation_p.L415V	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	675	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)	p.L675V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GCGACCATTTCTGTACAACAC	0.478																																					Ovarian(79;763 1781 6490 50276)	uc001oqn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2023-2025)CTG>GTG		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						163.0	140.0	148.0					11																	71209527		2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71209527C>G	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.2023C>G	11.37:g.71209527C>G	ENSP00000326424:p.Leu675Val					NADSYN1_uc001oqo.2_Missense_Mutation_p.L415V|NADSYN1_uc001oqp.2_Missense_Mutation_p.L304V	p.L675V	NM_018161	NP_060631	Q6IA69	NADE_HUMAN			20	2149	+			675			Ligase (By similarity).		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.2023C>G	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	c	14.81	2.645772	0.47258	.	.	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000530055	T;T;T	0.56941	1.44;0.78;0.43	5.06	4.15	0.48705	.	0.000000	0.64402	D	0.000004	T	0.74966	0.3786	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77768	-0.2464	10	0.49607	T	0.09	-22.2106	11.2057	0.48769	0.0:0.9096:0.0:0.0904	.	415;675	B3KUU4;Q6IA69	.;NADE_HUMAN	V	675;415;304	ENSP00000326424:L675V;ENSP00000443718:L415V;ENSP00000431820:L304V	ENSP00000326424:L675V	L	+	1	2	NADSYN1	70887175	0.985000	0.35326	0.558000	0.28319	0.015000	0.08874	1.912000	0.39946	1.134000	0.42165	0.585000	0.79938	CTG		PASS	0.478	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		34	141	34	141	---	---	---	---
RSF1	51773	broad.mit.edu	37	11	77386218	77386218	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:77386218T>C	ENST00000308488.6	-	14	3727	c.3425A>G	c.(3424-3426)gAc>gGc	p.D1142G	RSF1_ENST00000360355.2_Missense_Mutation_p.D1111G|RSF1_ENST00000480887.1_Missense_Mutation_p.D890G			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1142					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.D1142G(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GCTACAAAAGTCAGTGTCACT	0.453																																						uc001oyn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(3424-3426)GAC>GGC		remodeling and spacing factor 1							118.0	112.0	114.0					11																	77386218		2200	4292	6492	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77386218T>C	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3425A>G	11.37:g.77386218T>C	ENSP00000311513:p.Asp1142Gly					RSF1_uc001oym.2_Missense_Mutation_p.D890G	p.D1142G	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		14	3545	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		1142					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.3425A>G	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646624	0.67358	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000531026	D;D;D;D	0.91464	-2.04;-2.07;-2.04;-2.85	4.97	4.97	0.65823	.	0.116272	0.38720	N	0.001589	D	0.83013	0.5162	N	0.14661	0.345	0.49051	D	0.999744	P	0.40970	0.734	B	0.40165	0.321	T	0.83088	-0.0134	10	0.30854	T	0.27	-18.2061	14.4865	0.67622	0.0:0.0:0.0:1.0	.	1142	Q96T23	RSF1_HUMAN	G	1142;890;1111;251	ENSP00000311513:D1142G;ENSP00000434509:D890G;ENSP00000353511:D1111G;ENSP00000433603:D251G	ENSP00000311513:D1142G	D	-	2	0	RSF1	77063866	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.236000	0.51336	2.082000	0.62665	0.528000	0.53228	GAC		PASS	0.453	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		43	49	43	49	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92568145	92568145	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:92568145C>A	ENST00000298047.6	+	14	9998	c.9981C>A	c.(9979-9981)gtC>gtA	p.V3327V	FAT3_ENST00000409404.2_Silent_p.V3327V|FAT3_ENST00000525166.1_Silent_p.V3177V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3327	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V3327V(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGCCACTGTCAACATCAACC	0.507										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(9979-9981)GTC>GTA		FAT tumor suppressor homolog 3							48.0	50.0	49.0					11																	92568145		1959	4152	6111	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92568145C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9981C>A	11.37:g.92568145C>A		TCGA Ovarian(4;0.039)					p.V3327V	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			14	9998	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3327			Cadherin 30.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.9981C>A																																																																																					PASS	0.507	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		29	32	29	32	---	---	---	---
GUCY1A2	2977	broad.mit.edu	37	11	106810751	106810751	+	Missense_Mutation	SNP	A	A	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:106810751A>C	ENST00000526355.2	-	4	1109	c.641T>G	c.(640-642)tTt>tGt	p.F214C	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.F214C|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.F214C	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	214					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.F214C(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CTGTTTTCCAAAAGAAGTTCT	0.463																																						uc001pjg.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(640-642)TTT>TGT		guanylate cyclase 1, soluble, alpha 2							91.0	99.0	97.0					11																	106810751		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106810751A>C	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.641T>G	11.37:g.106810751A>C	ENSP00000431245:p.Phe214Cys					GUCY1A2_uc010rvo.1_Missense_Mutation_p.F214C|GUCY1A2_uc009yxn.1_Missense_Mutation_p.F214C	p.F214C	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	4	1031	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	214					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.641T>G	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	A	9.640	1.138644	0.21123	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	T;T;T	0.51817	0.69;0.69;0.69	5.28	5.28	0.74379	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.46442	U	0.000289	T	0.39682	0.1087	L	0.33485	1.01	0.36315	D	0.857902	B;B;B	0.12630	0.003;0.002;0.006	B;B;B	0.12156	0.003;0.005;0.007	T	0.45920	-0.9228	10	0.66056	D	0.02	.	14.3898	0.66970	1.0:0.0:0.0:0.0	.	214;214;214	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	C	214	ENSP00000431245:F214C;ENSP00000282249:F214C;ENSP00000344874:F214C	ENSP00000282249:F214C	F	-	2	0	GUCY1A2	106315961	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	3.177000	0.50871	2.001000	0.58596	0.482000	0.46254	TTT		PASS	0.463	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			78	111	78	111	---	---	---	---
PPP2R1B	5519	broad.mit.edu	37	11	111637063	111637063	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:111637063C>A	ENST00000527614.1	-	1	88	c.23G>T	c.(22-24)gGg>gTg	p.G8V	PPP2R1B_ENST00000341980.6_Missense_Mutation_p.G8V|RP11-108O10.2_ENST00000529841.1_lincRNA|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.G8V|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.G8V|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.G8V	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	8			G -> R (in a lung cancer patient; dbSNP:rs142771326). {ECO:0000269|PubMed:9765152}.		apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)		p.G8V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TGGGCCGGTCCCGAGCTCTGA	0.662																																						uc001plx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(22-24)GGG>GTG		beta isoform of regulatory subunit A, protein							51.0	51.0	51.0					11																	111637063		2201	4297	6498	SO:0001583	missense	5519						protein binding	g.chr11:111637063C>A	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.23G>T	11.37:g.111637063C>A	ENSP00000437193:p.Gly8Val					PPP2R1B_uc001plw.1_Missense_Mutation_p.G8V|PPP2R1B_uc010rwi.1_Missense_Mutation_p.G8V|PPP2R1B_uc010rwj.1_5'UTR|PPP2R1B_uc010rwk.1_Missense_Mutation_p.G8V|PPP2R1B_uc010rwl.1_Missense_Mutation_p.G8V	p.G8V	NM_002716	NP_002707	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	1	107	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	8		G -> R (in a lung cancer patient).			A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	c.23G>T	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493243	0.64186	.	.	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000341980;ENST00000393055	.	.	.	5.23	2.33	0.28932	.	0.829213	0.10648	N	0.650165	T	0.52885	0.1762	L	0.47716	1.5	0.28177	N	0.928348	B;P;B;D;B	0.71674	0.18;0.527;0.012;0.998;0.02	B;B;B;D;B	0.77557	0.127;0.25;0.015;0.99;0.023	T	0.40496	-0.9560	9	0.87932	D	0	0.102	5.5119	0.16886	0.0:0.6562:0.1634:0.1805	.	8;8;8;8;8	A8MY67;F8W8G1;B4DWW5;P30154;P30154-2	.;.;.;2AAB_HUMAN;.	V	8	.	ENSP00000311344:G8V	G	-	2	0	PPP2R1B	111142273	0.002000	0.14202	0.001000	0.08648	0.010000	0.07245	0.696000	0.25541	0.208000	0.20626	-0.262000	0.10625	GGG		PASS	0.662	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		19	17	19	17	---	---	---	---
NXPE4	54827	broad.mit.edu	37	11	114453646	114453646	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:114453646A>T	ENST00000375478.3	-	3	374	c.194T>A	c.(193-195)cTa>cAa	p.L65Q	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	65						extracellular vesicular exosome (GO:0070062)		p.L65Q(1)									AGTCTCTGTTAGTGGCTTTAA	0.448																																						uc001ppc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(193-195)CTA>CAA		hypothetical protein LOC54827 isoform 1							274.0	256.0	262.0					11																	114453646		1963	4156	6119	SO:0001583	missense	54827					extracellular region		g.chr11:114453646A>T	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.194T>A	11.37:g.114453646A>T	ENSP00000364627:p.Leu65Gln					FAM55D_uc001ppd.2_5'UTR	p.L65Q	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)	3	375	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	65					Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.194T>A	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	A	8.565	0.878578	0.17395	.	.	ENSG00000137634	ENST00000375478	T	0.12465	2.68	4.86	2.97	0.34412	.	0.794970	0.11204	N	0.588518	T	0.13329	0.0323	L	0.56769	1.78	0.09310	N	1	B	0.17465	0.022	B	0.19946	0.027	T	0.41998	-0.9477	10	0.13108	T	0.6	.	7.328	0.26566	0.2107:0.0:0.7893:0.0	.	65	Q6UWF7	FA55D_HUMAN	Q	65	ENSP00000364627:L65Q	ENSP00000364627:L65Q	L	-	2	0	FAM55D	113958856	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.104000	0.15313	0.546000	0.28920	-0.472000	0.04984	CTA		PASS	0.448	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		84	136	84	136	---	---	---	---
BCL9L	283149	broad.mit.edu	37	11	118774021	118774021	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:118774021C>A	ENST00000334801.3	-	4	1637	c.673G>T	c.(673-675)Ggg>Tgg	p.G225W	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	225					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.G225W(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		cccccgcccccgcccccAGGG	0.711																																						uc001pug.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(673-675)GGG>TGG		B-cell CLL/lymphoma 9-like							5.0	6.0	6.0					11																	118774021		2060	3994	6054	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118774021C>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.673G>T	11.37:g.118774021C>A	ENSP00000335320:p.Gly225Trp					BCL9L_uc009zal.2_Missense_Mutation_p.G220W	p.G225W	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	4	1638	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	225					A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.673G>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364306	0.61513	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.68479	-0.33	4.27	3.27	0.37495	.	0.327107	0.21518	N	0.073268	T	0.69205	0.3085	N	0.19112	0.55	0.39936	D	0.974351	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.955	T	0.75280	-0.3373	10	0.72032	D	0.01	-10.2476	14.7459	0.69490	0.0:0.8545:0.1455:0.0	.	220;225	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	W	225;188;225;225	ENSP00000335320:G225W	ENSP00000335320:G225W	G	-	1	0	BCL9L	118279231	0.401000	0.25303	0.954000	0.39281	0.735000	0.41995	0.209000	0.17435	2.377000	0.81083	0.555000	0.69702	GGG		PASS	0.711	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		5	4	5	4	---	---	---	---
PDZD3	79849	broad.mit.edu	37	11	119058019	119058019	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:119058019T>G	ENST00000531114.1	+	3	1118	c.569T>G	c.(568-570)cTg>cGg	p.L190R	PDZD3_ENST00000525131.1_Missense_Mutation_p.L111R|PDZD3_ENST00000392817.2_Missense_Mutation_p.L190R|PDZD3_ENST00000355547.5_Missense_Mutation_p.L124R|PDZD3_ENST00000322712.4_Missense_Mutation_p.L124R			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	190	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)	p.L124R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CGGGTGTTGCTGACAGTATTG	0.672																																						uc001pwb.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(568-570)CTG>CGG		RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;							23.0	23.0	23.0					11																	119058019		2200	4295	6495	SO:0001583	missense	79849				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding	g.chr11:119058019T>G	AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.569T>G	11.37:g.119058019T>G	ENSP00000431164:p.Leu190Arg					PDZD3_uc001pvy.2_Missense_Mutation_p.L124R|PDZD3_uc001pvz.2_Missense_Mutation_p.L124R|PDZD3_uc010rzd.1_Missense_Mutation_p.L111R|PDZD3_uc001pwa.2_5'UTR	p.L190R			Q86UT5	NHRF4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)	3	1093	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	190			PDZ 1.		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	ENST00000531114.1	37	c.569T>G		.	.	.	.	.	.	.	.	.	.	T	23.7	4.451967	0.84209	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	5.66	5.66	0.87406	PDZ/DHR/GLGF (4);	0.165784	0.40818	N	0.001002	D	0.84229	0.5426	H	0.97540	4.025	0.46167	D	0.998903	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.994;0.997	D	0.89685	0.3893	10	0.87932	D	0	-14.6121	14.4646	0.67475	0.0:0.0:0.0:1.0	.	111;190;124;124	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	R	111;190;124;124;124;190	ENSP00000434559:L111R;ENSP00000431164:L190R;ENSP00000347742:L124R;ENSP00000327107:L124R;ENSP00000376564:L190R	ENSP00000327107:L124R	L	+	2	0	PDZD3	118563229	0.999000	0.42202	0.977000	0.42913	0.898000	0.52572	3.712000	0.54875	2.155000	0.67459	0.533000	0.62120	CTG		PASS	0.672	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791		8	10	8	10	---	---	---	---
MFRP	83552	broad.mit.edu	37	11	119216232	119216232	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:119216232T>A	ENST00000530681.1	-	5	683	c.539A>T	c.(538-540)cAt>cTt	p.H180L	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Missense_Mutation_p.H180L|MFRP_ENST00000555262.1_Missense_Mutation_p.H180L|MFRP_ENST00000360167.4_Missense_Mutation_p.H180L|MFRP_ENST00000529147.1_5'UTR	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	180	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H180L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CTGTATTGCATGGTCTGTGGC	0.582																																						uc001pwj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(538-540)CAT>CTT		membrane frizzled-related protein							70.0	66.0	67.0					11																	119216232		2199	4295	6494	SO:0001583	missense	83552					collagen		g.chr11:119216232T>A	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.539A>T	11.37:g.119216232T>A	ENSP00000456533:p.His180Leu					MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.H180L	p.H180L	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	5	699	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	Error:Variant_position_missing_in_Q9BXJ0_after_alignment					B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.539A>T	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	T	5.241	0.229911	0.09969	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.27720	1.65;1.65;1.65	4.0	4.0	0.46444	CUB (5);	0.509377	0.20274	N	0.095604	T	0.21718	0.0523	L	0.39566	1.225	0.09310	N	1	B;B	0.18968	0.032;0.014	B;B	0.21151	0.033;0.015	T	0.18524	-1.0334	10	0.12103	T	0.63	-1.6878	8.7403	0.34554	0.2155:0.0:0.0:0.7845	.	180;180	B4DHN8;Q9BY79	.;MFRP_HUMAN	L	180	ENSP00000450509:H180L;ENSP00000391664:H180L;ENSP00000353291:H180L	ENSP00000353291:H180L	H	-	2	0	MFRP	118721442	0.486000	0.25980	0.823000	0.32752	0.450000	0.32258	0.677000	0.25262	1.811000	0.52892	0.459000	0.35465	CAT		PASS	0.582	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		34	53	34	53	---	---	---	---
OR6M1	390261	broad.mit.edu	37	11	123676282	123676283	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:123676282_123676283GG>TT	ENST00000309154.2	-	1	812_813	c.775_776CC>AA	c.(775-777)CCc>AAc	p.P259N		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P259H(1)|p.P259T(1)|p.P259N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GTTCTGATTGGGTCTCACATAC	0.515																																						uc010rzz.1																			3	Substitution - Missense(3)		lung(3)	skin(2)	2						c.(775-777)CCC>CAC|c.(775-777)CCC>ACC		olfactory receptor, family 6, subfamily M,																																				SO:0001583	missense	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676282G>T|g.chr11:123676283G>T	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.775_776delinsTT	11.37:g.123676282_123676283delinsTT	ENSP00000311038:p.Pro259Asn						p.P259H|p.P259T	NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	776|775	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	259			Extracellular (Potential).		B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	c.776C>A|c.775C>A	CCDS31696.1																																																																																				PASS	0.515	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		13	47|45	13	45	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777210	123777210	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:123777210G>T	ENST00000321355.2	+	1	102	c.72G>T	c.(70-72)caG>caT	p.Q24H		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q24H(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CAGAGCTTCAGCTGCCCCTCT	0.428																																						uc010saa.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(70-72)CAG>CAT		olfactory receptor, family 8, subfamily D,							115.0	110.0	112.0					11																	123777210		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777210G>T	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.72G>T	11.37:g.123777210G>T	ENSP00000325381:p.Gln24His						p.Q24H	NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	72	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	24			Extracellular (Potential).		Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.72G>T	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554582	0.45487	.	.	ENSG00000181518	ENST00000321355	T	0.00601	6.29	5.58	2.7	0.31948	.	0.161503	0.29192	N	0.012874	T	0.02119	0.0066	M	0.75884	2.315	0.27149	N	0.961457	D	0.89917	1.0	D	0.70935	0.971	T	0.17684	-1.0361	10	0.72032	D	0.01	.	9.9752	0.41779	0.2259:0.0:0.7741:0.0	.	24	Q8NGM9	OR8D4_HUMAN	H	24	ENSP00000325381:Q24H	ENSP00000325381:Q24H	Q	+	3	2	OR8D4	123282420	0.011000	0.17503	0.954000	0.39281	0.551000	0.35334	0.080000	0.14802	0.299000	0.22661	0.655000	0.94253	CAG		PASS	0.428	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		37	88	37	88	---	---	---	---
OR4D5	219875	broad.mit.edu	37	11	123810488	123810488	+	Silent	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:123810488G>T	ENST00000307033.2	+	1	239	c.165G>T	c.(163-165)ctG>ctT	p.L55L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L55L(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ACCCACACCTGCACACAACCA	0.448																																						uc001pzk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(163-165)CTG>CTT		olfactory receptor, family 4, subfamily D,							183.0	159.0	167.0					11																	123810488		2202	4299	6501	SO:0001819	synonymous_variant	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810488G>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.165G>T	11.37:g.123810488G>T							p.L55L	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	165	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	55			Cytoplasmic (Potential).		B9EGZ4|Q6IFE6	Silent	SNP	ENST00000307033.2	37	c.165G>T	CCDS31699.1																																																																																				PASS	0.448	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		76	95	76	95	---	---	---	---
OR10G4	390264	broad.mit.edu	37	11	123887041	123887041	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:123887041T>G	ENST00000320891.4	+	1	760	c.760T>G	c.(760-762)Tgt>Ggt	p.C254G		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C254G(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTTTGTTCCCTGTGTTGTCAT	0.537																																						uc010sac.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(760-762)TGT>GGT		olfactory receptor, family 10, subfamily G,							131.0	103.0	113.0					11																	123887041		2201	4299	6500	SO:0001583	missense	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123887041T>G	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.760T>G	11.37:g.123887041T>G	ENSP00000325076:p.Cys254Gly						p.C254G	NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	760	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	254			Helical; Name=6; (Potential).		Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.760T>G	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	-	0.013	-1.608290	0.00842	.	.	ENSG00000254737	ENST00000320891	T	0.00044	8.83	3.33	-6.67	0.01783	GPCR, rhodopsin-like superfamily (1);	0.496233	0.17076	N	0.187984	T	0.00109	0.0003	N	0.25332	0.735	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47420	-0.9119	10	0.48119	T	0.1	.	15.2189	0.73296	0.0:0.0806:0.1111:0.8083	.	254	Q8NGN3	O10G4_HUMAN	G	254	ENSP00000325076:C254G	ENSP00000325076:C254G	C	+	1	0	OR10G4	123392251	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.557000	0.05985	-3.080000	0.00251	-1.595000	0.00837	TGT		PASS	0.537	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		23	55	23	55	---	---	---	---
OR8B4	283162	broad.mit.edu	37	11	124294301	124294301	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:124294301A>T	ENST00000356130.3	-	1	488	c.467T>A	c.(466-468)aTg>aAg	p.M156K		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M156K(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		AGTGTGGGCCATGGCCCCAGC	0.552																																						uc010sak.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(466-468)ATG>AAG		olfactory receptor, family 8, subfamily B,							84.0	62.0	70.0					11																	124294301		2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294301A>T	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.467T>A	11.37:g.124294301A>T	ENSP00000348449:p.Met156Lys						p.M156K	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	467	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	156			Helical; Name=4; (Potential).		B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.467T>A	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	a	15.23	2.770657	0.49680	.	.	ENSG00000198657	ENST00000356130	T	0.00145	8.67	4.06	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.304354	0.28841	N	0.013966	T	0.00328	0.0010	M	0.86502	2.82	0.09310	N	0.999999	P	0.34699	0.464	P	0.44647	0.456	T	0.02691	-1.1123	10	0.66056	D	0.02	.	11.0659	0.47974	0.8438:0.1562:0.0:0.0	.	156	Q96RC9	OR8B4_HUMAN	K	156	ENSP00000348449:M156K	ENSP00000348449:M156K	M	-	2	0	OR8B4	123799511	0.006000	0.16342	1.000000	0.80357	0.985000	0.73830	2.426000	0.44731	0.893000	0.36288	0.533000	0.62120	ATG		PASS	0.552	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		13	19	13	19	---	---	---	---
ETS1	2113	broad.mit.edu	37	11	128359270	128359270	+	Silent	SNP	G	G	A	rs549425510		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:128359270G>A	ENST00000319397.6	-	3	627	c.318C>T	c.(316-318)tgC>tgT	p.C106C	ETS1_ENST00000526145.2_Silent_p.C106C|ETS1_ENST00000531611.1_Silent_p.C106C|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000392668.4_Silent_p.C150C|ETS1_ENST00000345075.4_Silent_p.C106C	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	106	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.C106C(2)|p.C150C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TACCCAGGGCGCAGAGGGCTG	0.493																																						uc010sbs.1																			3	Substitution - coding silent(3)		lung(2)|prostate(1)	lung(4)|central_nervous_system(1)|pleura(1)	6						c.(316-318)TGC>TGT		v-ets erythroblastosis virus E26 oncogene							129.0	131.0	130.0					11																	128359270		2201	4297	6498	SO:0001819	synonymous_variant	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128359270G>A		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.318C>T	11.37:g.128359270G>A						ETS1_uc001qej.2_Silent_p.C150C|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Silent_p.C106C	p.C106C	NM_005238	NP_005229	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	3	634	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	106			PNT.		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Silent	SNP	ENST00000319397.6	37	c.318C>T	CCDS8475.1																																																																																				PASS	0.493	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		90	96	90	96	---	---	---	---
PRDM10	56980	broad.mit.edu	37	11	129784610	129784610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:129784610G>A	ENST00000360871.3	-	17	3061	c.2830C>T	c.(2830-2832)Caa>Taa	p.Q944*	PRDM10_ENST00000304538.6_Nonsense_Mutation_p.Q858*|PRDM10_ENST00000528746.1_Nonsense_Mutation_p.Q918*|PRDM10_ENST00000358825.5_Nonsense_Mutation_p.Q948*|PRDM10_ENST00000526082.1_Nonsense_Mutation_p.Q862*|PRDM10_ENST00000423662.2_Nonsense_Mutation_p.Q862*	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	948	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.Q944*(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GAGGCCACTTGAACCACTTGC	0.552																																						uc001qfm.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(2842-2844)CAA>TAA		PR domain containing 10 isoform 1							141.0	136.0	138.0					11																	129784610		2201	4297	6498	SO:0001587	stop_gained	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129784610G>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2830C>T	11.37:g.129784610G>A	ENSP00000354118:p.Gln944*					PRDM10_uc001qfj.2_Nonsense_Mutation_p.Q862*|PRDM10_uc001qfk.2_Nonsense_Mutation_p.Q858*|PRDM10_uc001qfl.2_Nonsense_Mutation_p.Q862*|PRDM10_uc010sbx.1_Nonsense_Mutation_p.Q858*|PRDM10_uc001qfn.2_Nonsense_Mutation_p.Q944*|PRDM10_uc009zcs.1_Nonsense_Mutation_p.Q131*	p.Q948*	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	18	3074	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	948			Gln-rich.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Nonsense_Mutation	SNP	ENST00000360871.3	37	c.2842C>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	41	8.689691	0.98916	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	.	.	.	5.44	5.44	0.79542	.	0.112530	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-28.9047	19.4586	0.94906	0.0:0.0:1.0:0.0	.	.	.	.	X	948;858;944;862;918;862;661	.	ENSP00000302669:Q858X	Q	-	1	0	PRDM10	129289820	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.997000	0.93544	2.828000	0.97474	0.655000	0.94253	CAA		PASS	0.552	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		6	143	6	143	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133792072	133792072	+	Splice_Site	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:133792072G>A	ENST00000321016.8	-	17	2557	c.2327C>T	c.(2326-2328)cCc>cTc	p.P776L	IGSF9B_ENST00000533871.2_Splice_Site_p.P776L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	776					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.P776L(1)|p.P232L(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGACACTTACGGAGACTCCAG	0.577																																						uc001qgx.3																			2	Substitution - Missense(2)		lung(2)		0						c.(2326-2328)CCC>CTC		immunoglobulin superfamily, member 9B							70.0	79.0	76.0					11																	133792072		2039	4190	6229	SO:0001630	splice_region_variant	22997					integral to membrane|plasma membrane		g.chr11:133792072G>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2327+1C>T	11.37:g.133792072G>A							p.P776L	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	17	2558	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	776			Cytoplasmic (Potential).		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.2327C>T		.	.	.	.	.	.	.	.	.	.	G	23.4	4.409552	0.83340	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.68181	0.02;-0.31	5.37	5.37	0.77165	.	0.000000	0.42682	D	0.000671	T	0.77711	0.4171	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.75499	-0.3296	9	.	.	.	.	19.0989	0.93266	0.0:0.0:1.0:0.0	.	776	Q9UPX0	TUTLB_HUMAN	L	776;618	ENSP00000317980:P776L;ENSP00000436552:P618L	.	P	-	2	0	IGSF9B	133297282	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.572000	0.82409	2.514000	0.84764	0.561000	0.74099	CCC		PASS	0.577	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502	Missense_Mutation	8	32	8	32	---	---	---	---
IQSEC3	440073	broad.mit.edu	37	12	248089	248089	+	Silent	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:248089A>T	ENST00000538872.1	+	4	1678	c.1560A>T	c.(1558-1560)gcA>gcT	p.A520A	RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.A520A|IQSEC3_ENST00000382841.2_Silent_p.A217A|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	520					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.A520A(1)|p.A217A(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AGGCCCCCGCAGAGCCCGCGG	0.716																																						uc001qhw.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(649-651)GCA>GCT		IQ motif and Sec7 domain 3							20.0	18.0	19.0					12																	248089		2190	4290	6480	SO:0001819	synonymous_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:248089A>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1560A>T	12.37:g.248089A>T						IQSEC3_uc001qhu.1_Silent_p.A217A|IQSEC3_uc001qht.1_Silent_p.A302A|uc001qhv.1_Intron	p.A217A	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	657	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		520					A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	c.651A>T	CCDS53728.1																																																																																				PASS	0.716	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		8	19	8	19	---	---	---	---
ITFG2	55846	broad.mit.edu	37	12	2930910	2930910	+	Silent	SNP	A	A	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:2930910A>C	ENST00000228799.2	+	9	1039	c.900A>C	c.(898-900)tcA>tcC	p.S300S	ITFG2_ENST00000542548.1_Silent_p.S188S|ITFG2_ENST00000419778.2_Silent_p.S123S	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	300					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.S300S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TGCTGTGGTCAGTGCAGGTGG	0.567																																						uc001qlb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(898-900)TCA>TCC		integrin alpha FG-GAP repeat containing 2							132.0	123.0	126.0					12																	2930910		2203	4300	6503	SO:0001819	synonymous_variant	55846							g.chr12:2930910A>C	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.900A>C	12.37:g.2930910A>C						ITFG2_uc010seb.1_Silent_p.S123S|ITFG2_uc010sec.1_RNA	p.S300S	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		9	964	+			300					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Silent	SNP	ENST00000228799.2	37	c.900A>C	CCDS8513.1																																																																																				PASS	0.567	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		87	112	87	112	---	---	---	---
NTF3	4908	broad.mit.edu	37	12	5603648	5603648	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:5603648A>G	ENST00000331010.6	+	1	351	c.268A>G	c.(268-270)Acc>Gcc	p.T90A	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Missense_Mutation_p.T103A	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	90					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)	p.T90A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TGCAATGGACACCGAACTGCT	0.617																																					GBM(194;1104 2182 8339 9578 18493)	uc001qnl.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(268-270)ACC>GCC		neurotrophin 3 isoform 2 preproprotein							50.0	58.0	55.0					12																	5603648		2203	4300	6503	SO:0001583	missense	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603648A>G		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.268A>G	12.37:g.5603648A>G	ENSP00000328738:p.Thr90Ala					NTF3_uc001qnk.3_Missense_Mutation_p.T103A	p.T90A	NM_002527	NP_002518	P20783	NTF3_HUMAN			1	351	+			90					B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	c.268A>G	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	A	6.536	0.467188	0.12402	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.39997	1.05;1.05	5.52	1.74	0.24563	.	0.363521	0.29737	N	0.011334	T	0.17195	0.0413	N	0.04373	-0.215	0.31698	N	0.641069	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07693	-1.0759	10	0.33940	T	0.23	-12.1409	5.2567	0.15552	0.5279:0.3166:0.1554:0.0	.	90;103	P20783;B7Z1T5	NTF3_HUMAN;.	A	103;90	ENSP00000397297:T103A;ENSP00000328738:T90A	ENSP00000328738:T90A	T	+	1	0	NTF3	5473909	0.991000	0.36638	0.814000	0.32528	0.286000	0.27126	1.135000	0.31454	0.420000	0.25954	0.482000	0.46254	ACC		PASS	0.617	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			38	80	38	80	---	---	---	---
ANO2	57101	broad.mit.edu	37	12	5939612	5939612	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:5939612G>T	ENST00000356134.5	-	7	891	c.820C>A	c.(820-822)Cgc>Agc	p.R274S	ANO2_ENST00000327087.8_Missense_Mutation_p.R273S|ANO2_ENST00000546188.1_Missense_Mutation_p.R274S	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	278					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R274S(1)|p.R273S(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ATGCGGCTGCGGGTGGCATTA	0.493																																						uc001qnm.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(817-819)CGC>AGC		anoctamin 2							121.0	119.0	120.0					12																	5939612		2000	4174	6174	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5939612G>T	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.820C>A	12.37:g.5939612G>T	ENSP00000348453:p.Arg274Ser						p.R273S	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			6	889	-			278			Cytoplasmic (Potential).		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.817C>A		.	.	.	.	.	.	.	.	.	.	G	21.1	4.103943	0.76983	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.70164	-0.46;-0.46;-0.46	5.52	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.85199	0.5642	H	0.96301	3.8	0.53688	D	0.999978	D	0.63880	0.993	D	0.63793	0.918	D	0.88532	0.3103	10	0.72032	D	0.01	.	12.2041	0.54342	0.0:0.0:0.8302:0.1698	.	273	Q9NQ90-3	.	S	273;274;274;278	ENSP00000314048:R273S;ENSP00000348453:R274S;ENSP00000440981:R274S	ENSP00000314048:R273S	R	-	1	0	ANO2	5809873	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.017000	0.49615	2.759000	0.94783	0.555000	0.69702	CGC		PASS	0.493	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		17	30	17	30	---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	9000180	9000180	+	Silent	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:9000180A>G	ENST00000299698.7	+	15	1899	c.1719A>G	c.(1717-1719)ccA>ccG	p.P573P	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Silent_p.P82P	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.P573P(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGCAGCTTCCAGGAGCAGAAG	0.577																																						uc001quz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1717-1719)CCA>CCG		alpha-2-macroglobulin-like 1 precursor							99.0	101.0	100.0					12																	9000180		1939	4120	6059	SO:0001819	synonymous_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9000180A>G	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1719A>G	12.37:g.9000180A>G						A2ML1_uc001qva.1_Silent_p.P153P|A2ML1_uc010sgm.1_Silent_p.P73P	p.P573P	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			15	1817	+			417						Silent	SNP	ENST00000299698.7	37	c.1719A>G	CCDS8596.2																																																																																				PASS	0.577	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		111	139	111	139	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13768452	13768452	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:13768452C>T	ENST00000609686.1	-	6	1684	c.1475G>A	c.(1474-1476)gGa>gAa	p.G492E		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	492					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.G492E(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATTCCAGGTTCCATTGATTTT	0.373																																						uc001rbt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(1474-1476)GGA>GAA		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						151.0	159.0	156.0					12																	13768452		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13768452C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1475G>A	12.37:g.13768452C>T	ENSP00000477455:p.Gly492Glu						p.G492E	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			6	1654	-			492			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1475G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153966	0.94645	.	.	ENSG00000150086	ENST00000279593	T	0.55413	0.52	6.02	6.02	0.97574	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.81791	0.4897	H	0.94698	3.57	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.85470	0.1172	10	0.72032	D	0.01	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	492	Q13224	NMDE2_HUMAN	E	492	ENSP00000279593:G492E	ENSP00000279593:G492E	G	-	2	0	GRIN2B	13659719	1.000000	0.71417	0.985000	0.45067	0.989000	0.77384	4.924000	0.63418	2.850000	0.98022	0.650000	0.86243	GGA		PASS	0.373	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			92	191	92	191	---	---	---	---
ERP27	121506	broad.mit.edu	37	12	15073866	15073866	+	Splice_Site	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:15073866C>T	ENST00000266397.2	-	4	1023	c.450G>A	c.(448-450)gtG>gtA	p.V150V	ERP27_ENST00000540097.1_Splice_Site_p.V49V	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	150	Thioredoxin.					endoplasmic reticulum (GO:0005783)		p.V150V(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TATTGTTTACCACAGGGTTGT	0.458																																						uc001rco.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(448-450)GTG>GTA		endoplasmic reticulum protein 27 kDa precursor							257.0	230.0	239.0					12																	15073866		2203	4300	6503	SO:0001630	splice_region_variant	121506					endoplasmic reticulum lumen		g.chr12:15073866C>T	AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"""Protein disulfide isomerases"""	26495	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 8"""	610642	"""chromosome 12 open reading frame 46"", ""endoplasmic reticulum protein 27 kDa"""	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.450+1G>A	12.37:g.15073866C>T							p.V150V	NM_152321	NP_689534	Q96DN0	ERP27_HUMAN			4	471	-			150			Thioredoxin.			Silent	SNP	ENST00000266397.2	37	c.450G>A	CCDS8670.1																																																																																				PASS	0.458	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400868.1	NM_152321	Silent	73	118	73	118	---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21008009	21008009	+	Silent	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:21008009T>A	ENST00000381545.3	+	4	351	c.132T>A	c.(130-132)ggT>ggA	p.G44G	LST3_ENST00000540229.1_Silent_p.G44G|LST3_ENST00000381541.3_Silent_p.G44G|SLCO1B7_ENST00000554957.1_Silent_p.G44G|SLCO1B3_ENST00000553473.1_Silent_p.G44G|SLCO1B3_ENST00000261196.2_Silent_p.G44G	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	44					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.G44G(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	AAGCACTAGGTGGAATCATTA	0.318																																						uc001rek.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(130-132)GGT>GGA		solute carrier organic anion transporter family,							87.0	81.0	83.0					12																	21008009		2203	4299	6502	SO:0001819	synonymous_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21008009T>A		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.132T>A	12.37:g.21008009T>A						SLCO1B3_uc001rel.2_Silent_p.G44G|SLCO1B3_uc010sil.1_Silent_p.G44G|LST-3TM12_uc010sim.1_Silent_p.G44G	p.G44G	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			3	258	+	Esophageal squamous(101;0.149)		44			Helical; Name=1; (Potential).		E7EMT8|Q5JAR4	Silent	SNP	ENST00000381545.3	37	c.132T>A	CCDS8684.1																																																																																				PASS	0.318	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		26	41	26	41	---	---	---	---
SLCO1B7	338821	broad.mit.edu	37	12	21172204	21172204	+	Silent	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:21172204T>C	ENST00000421593.2	+	2	108	c.108T>C	c.(106-108)ttT>ttC	p.F36F	LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.F36F(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGATTGTATTTGTAAGTTACT	0.328																																						uc010sin.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(106-108)TTT>TTC		liver-specific organic anion transporter 3TM12							159.0	152.0	154.0					12																	21172204		2203	4298	6501	SO:0001819	synonymous_variant	338821					membrane	transporter activity	g.chr12:21172204T>C	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.108T>C	12.37:g.21172204T>C						SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron	p.F36F	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			2	108	+			36					Q71QF0	Silent	SNP	ENST00000421593.2	37	c.108T>C	CCDS44843.1																																																																																				PASS	0.328	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		24	34	24	34	---	---	---	---
SLCO1B7	338821	broad.mit.edu	37	12	21200140	21200140	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:21200140A>G	ENST00000421593.2	+	7	983	c.983A>G	c.(982-984)aAc>aGc	p.N328S	LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.N375S|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.N375S|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	328						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.N328S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TCTAAGACTAACTTTTTGTTG	0.318																																						uc010sin.1																			1	Substitution - Missense(1)		lung(1)		0						c.(982-984)AAC>AGC		liver-specific organic anion transporter 3TM12							126.0	126.0	126.0					12																	21200140		2102	4238	6340	SO:0001583	missense	338821					membrane	transporter activity	g.chr12:21200140A>G	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.983A>G	12.37:g.21200140A>G	ENSP00000394168:p.Asn328Ser					SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.N375S	p.N328S	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			7	983	+			328					Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.983A>G	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	6.973	0.549440	0.13374	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.79454	1.05;1.05;-1.27	3.36	2.2	0.27929	.	0.219310	0.44902	N	0.000414	T	0.67135	0.2861	L	0.49126	1.545	0.09310	N	0.999998	B;B	0.26041	0.047;0.14	B;B	0.30855	0.121;0.099	T	0.56811	-0.7917	10	0.41790	T	0.15	.	2.8	0.05412	0.6521:0.0:0.127:0.2209	.	328;375	G3V0H7;F5H094	.;.	S	375;375;328	ENSP00000370952:N375S;ENSP00000452013:N375S;ENSP00000394168:N328S	ENSP00000370952:N375S	N	+	2	0	SLCO1B7;RP11-545J16.1	21091407	0.999000	0.42202	0.018000	0.16275	0.036000	0.12997	1.386000	0.34419	0.476000	0.27440	0.377000	0.23210	AAC		PASS	0.318	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		4	17	4	17	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29631788	29631788	+	Nonsense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:29631788G>C	ENST00000318184.5	-	9	1048	c.1049C>G	c.(1048-1050)tCa>tGa	p.S350*	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	350	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.S350*(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TCCACTGCTTGATCGTAAAGA	0.294																																						uc001rix.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(1048-1050)TCA>TGA		ovochymase 1 precursor							102.0	94.0	96.0					12																	29631788		1834	4079	5913	SO:0001587	stop_gained	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29631788G>C	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1049C>G	12.37:g.29631788G>C	ENSP00000326708:p.Ser350*						p.S350*	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			9	1049	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		350			CUB 1.			Nonsense_Mutation	SNP	ENST00000318184.5	37	c.1049C>G		.	.	.	.	.	.	.	.	.	.	G	13.64	2.296858	0.40594	.	.	ENSG00000187950	ENST00000318184	.	.	.	3.04	2.14	0.27477	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	7.8727	0.29576	0.1235:0.0:0.8765:0.0	.	.	.	.	X	350	.	ENSP00000326708:S350X	S	-	2	0	OVCH1	29523055	0.992000	0.36948	0.892000	0.35008	0.040000	0.13550	1.241000	0.32743	0.830000	0.34757	-0.140000	0.14226	TCA		PASS	0.294	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		17	37	17	37	---	---	---	---
DENND5B	160518	broad.mit.edu	37	12	31542367	31542367	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:31542367G>T	ENST00000389082.5	-	20	3796	c.3532C>A	c.(3532-3534)Cag>Aag	p.Q1178K	DENND5B_ENST00000306833.6_Missense_Mutation_p.Q1213K|DENND5B_ENST00000536562.1_Missense_Mutation_p.Q1213K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1178	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q1178K(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GATGATTTCTGAATAAGGACA	0.368																																						uc001rki.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3532-3534)CAG>AAG		DENN/MADD domain containing 5B							83.0	77.0	79.0					12																	31542367		1880	4108	5988	SO:0001583	missense	160518					integral to membrane		g.chr12:31542367G>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3532C>A	12.37:g.31542367G>T	ENSP00000373734:p.Gln1178Lys					DENND5B_uc001rkh.1_Missense_Mutation_p.Q1213K|DENND5B_uc009zjq.1_Intron	p.Q1178K	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			20	3718	-			1178			RUN 2.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.3532C>A	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	G	7.746	0.702305	0.15172	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.28255	1.62;1.62;1.62	4.34	4.34	0.51931	RUN (2);	0.493717	0.19686	N	0.108394	T	0.16085	0.0387	N	0.08118	0	0.29853	N	0.828236	B;B	0.13145	0.003;0.007	B;B	0.15870	0.014;0.003	T	0.03608	-1.1020	10	0.06891	T	0.86	-15.4178	17.0421	0.86492	0.0:0.0:1.0:0.0	.	1178;1213	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	K	1178;1213;1213	ENSP00000373734:Q1178K;ENSP00000306482:Q1213K;ENSP00000444889:Q1213K	ENSP00000306482:Q1213K	Q	-	1	0	DENND5B	31433634	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.700000	0.61803	2.239000	0.73571	0.585000	0.79938	CAG		PASS	0.368	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		11	22	11	22	---	---	---	---
YARS2	51067	broad.mit.edu	37	12	32902909	32902909	+	Silent	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:32902909A>G	ENST00000324868.8	-	4	1263	c.1236T>C	c.(1234-1236)acT>acC	p.T412T	YARS2_ENST00000551673.1_5'UTR	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	412					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)	p.T412T(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	CTTTGCGGCAAGTATCTAGGA	0.383																																						uc001rli.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1234-1236)ACT>ACC		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						96.0	100.0	98.0					12																	32902909		2203	4300	6503	SO:0001819	synonymous_variant	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32902909A>G	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.1236T>C	12.37:g.32902909A>G							p.T412T	NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN			4	1302	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		412					D3DUW8|Q9H817	Silent	SNP	ENST00000324868.8	37	c.1236T>C	CCDS31770.1																																																																																				PASS	0.383	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		27	156	27	156	---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39695313	39695313	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:39695313C>G	ENST00000361418.5	-	37	4915	c.4900G>C	c.(4900-4902)Gtt>Ctt	p.V1634L	KIF21A_ENST00000361961.3_Missense_Mutation_p.V1621L|KIF21A_ENST00000395670.3_Missense_Mutation_p.V1635L|KIF21A_ENST00000544797.2_Missense_Mutation_p.V1597L|KIF21A_ENST00000541463.2_Missense_Mutation_p.V1581L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1634					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1621L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GTGGAATTAACACATATGGCA	0.373																																						uc001rly.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(4900-4902)GTT>CTT		kinesin family member 21A							119.0	123.0	121.0					12																	39695313		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39695313C>G	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.4900G>C	12.37:g.39695313C>G	ENSP00000354878:p.Val1634Leu					KIF21A_uc001rlv.2_Missense_Mutation_p.V579L|KIF21A_uc001rlw.2_Missense_Mutation_p.V904L|KIF21A_uc001rlx.2_Missense_Mutation_p.V1621L|KIF21A_uc001rlz.2_Missense_Mutation_p.V1581L|KIF21A_uc010skl.1_Missense_Mutation_p.V1597L|KIF21A_uc001rlt.2_Missense_Mutation_p.V254L|KIF21A_uc001rlu.2_Missense_Mutation_p.V254L	p.V1634L	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			37	5046	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1634			WD 7.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.4900G>C	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289706	0.40494	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21	4.71	3.82	0.43975	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.328506	0.21998	N	0.066050	T	0.46347	0.1388	L	0.45228	1.405	0.23156	N	0.998209	B;B;B;B;B;B	0.19200	0.005;0.034;0.01;0.012;0.014;0.021	B;B;B;B;B;B	0.25291	0.007;0.059;0.035;0.017;0.016;0.046	T	0.42699	-0.9436	10	0.54805	T	0.06	.	5.2272	0.15401	0.0:0.6449:0.0:0.3551	.	1597;1581;1634;1621;1587;621	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.;.;KI21A_HUMAN;.;.;.	L	1621;1635;1587;621;615;1597;1634;1581	ENSP00000354851:V1621L;ENSP00000379029:V1635L;ENSP00000448792:V615L;ENSP00000445606:V1597L;ENSP00000354878:V1634L;ENSP00000438075:V1581L	ENSP00000344501:V1587L	V	-	1	0	KIF21A	37981580	1.000000	0.71417	0.974000	0.42286	0.992000	0.81027	2.454000	0.44979	1.200000	0.43188	0.650000	0.86243	GTT		PASS	0.373	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		77	94	77	94	---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39734805	39734805	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:39734805C>A	ENST00000361418.5	-	15	2028	c.2013G>T	c.(2011-2013)ctG>ctT	p.L671L	KIF21A_ENST00000361961.3_Silent_p.L658L|KIF21A_ENST00000395670.3_Silent_p.L671L|KIF21A_ENST00000544797.2_Silent_p.L658L|KIF21A_ENST00000541463.2_Silent_p.L658L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	671					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L658L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCAGAGTCTGCAGTCTTTTCT	0.368																																						uc001rly.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(2011-2013)CTG>CTT		kinesin family member 21A							118.0	106.0	110.0					12																	39734805		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39734805C>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2013G>T	12.37:g.39734805C>A						KIF21A_uc001rlw.2_5'UTR|KIF21A_uc001rlx.2_Silent_p.L658L|KIF21A_uc001rlz.2_Silent_p.L658L|KIF21A_uc010skl.1_Silent_p.L658L	p.L671L	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			15	2159	-		Lung NSC(34;0.179)|all_lung(34;0.213)	671					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.2013G>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	9.221	1.033484	0.19590	.	.	ENSG00000139116	ENST00000552961	.	.	.	5.5	-0.323	0.12709	.	.	.	.	.	T	0.53722	0.1814	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45249	-0.9274	4	.	.	.	.	7.3976	0.26946	0.1051:0.5451:0.0:0.3498	.	.	.	.	F	19	.	.	C	-	2	0	KIF21A	38021072	0.619000	0.27059	0.963000	0.40424	0.987000	0.75469	-0.168000	0.09925	0.006000	0.14734	0.460000	0.39030	TGC		PASS	0.368	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		23	35	23	35	---	---	---	---
C12orf40	283461	broad.mit.edu	37	12	40076501	40076501	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:40076501T>A	ENST00000324616.5	+	8	929	c.775T>A	c.(775-777)Tac>Aac	p.Y259N	C12orf40_ENST00000398716.1_Missense_Mutation_p.Y182N|C12orf40_ENST00000405531.3_Missense_Mutation_p.Y259N	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	259								p.Y259N(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ACAGTCAGACTACATTACTGA	0.353																																						uc001rmc.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(775-777)TAC>AAC		hypothetical protein LOC283461							133.0	133.0	133.0					12																	40076501		1840	4090	5930	SO:0001583	missense	283461							g.chr12:40076501T>A	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.775T>A	12.37:g.40076501T>A	ENSP00000317671:p.Tyr259Asn					C12orf40_uc009zjv.1_RNA	p.Y259N	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			8	942	+			259					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.775T>A	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.696499	0.30142	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.52295	0.67;0.69	5.36	4.21	0.49690	.	0.267201	0.27258	N	0.020196	T	0.29028	0.0721	N	0.19112	0.55	0.09310	N	1	P	0.34546	0.456	B	0.27380	0.079	T	0.22487	-1.0215	10	0.87932	D	0	.	9.1618	0.37028	0.0:0.0847:0.0:0.9153	.	259	Q86WS4	CL040_HUMAN	N	259;182;259	ENSP00000383897:Y259N;ENSP00000317671:Y259N	ENSP00000317671:Y259N	Y	+	1	0	C12orf40	38362768	0.035000	0.19736	0.014000	0.15608	0.128000	0.20619	1.275000	0.33144	1.129000	0.42072	0.482000	0.46254	TAC		PASS	0.353	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		42	87	42	87	---	---	---	---
PDZRN4	29951	broad.mit.edu	37	12	41966418	41966418	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:41966418G>C	ENST00000402685.2	+	10	1845	c.1837G>C	c.(1837-1839)Gac>Cac	p.D613H	PDZRN4_ENST00000298919.7_Missense_Mutation_p.D353H|PDZRN4_ENST00000539469.2_Missense_Mutation_p.D355H	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	613							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D355H(1)|p.D613H(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGAATACATTGACTCAGACTG	0.468																																						uc010skn.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(1240-1242)GAC>CAC		PDZ domain containing RING finger 4 isoform 2							83.0	84.0	83.0					12																	41966418		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966418G>C	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1837G>C	12.37:g.41966418G>C	ENSP00000384197:p.Asp613His					PDZRN4_uc001rmq.3_Missense_Mutation_p.D355H|PDZRN4_uc009zjz.2_Missense_Mutation_p.D353H|PDZRN4_uc001rmr.2_Missense_Mutation_p.D240H	p.D414H	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	1308	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	613					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1240G>C	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982798	0.34942	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.73047	-0.71;3.73;3.73	4.64	4.64	0.57946	.	0.072496	0.56097	D	0.000032	T	0.74824	0.3767	L	0.61218	1.895	0.41778	D	0.989803	P;P;P	0.49961	0.93;0.702;0.831	P;P;P	0.50490	0.635;0.642;0.642	T	0.76955	-0.2767	10	0.48119	T	0.1	-38.461	14.8752	0.70488	0.0:0.1443:0.8557:0.0	.	613;353;355	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	H	613;355;353	ENSP00000384197:D613H;ENSP00000439990:D355H;ENSP00000298919:D353H	ENSP00000298919:D353H	D	+	1	0	PDZRN4	40252685	1.000000	0.71417	0.940000	0.37924	0.414000	0.31173	5.299000	0.65716	2.533000	0.85409	0.650000	0.86243	GAC		PASS	0.468	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		37	65	37	65	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46321729	46321729	+	Silent	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:46321729T>C	ENST00000369367.3	-	11	1988	c.1755A>G	c.(1753-1755)acA>acG	p.T585T	SCAF11_ENST00000465950.1_Silent_p.T270T|SCAF11_ENST00000549162.1_Silent_p.T393T|SCAF11_ENST00000419565.2_Silent_p.T585T	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	585					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T585T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGGAACTCTCTGTTATTTTTT	0.358																																						uc001rox.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1753-1755)ACA>ACG		splicing factor, arginine/serine-rich 2,							69.0	73.0	72.0					12																	46321729		2203	4298	6501	SO:0001819	synonymous_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46321729T>C	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.1755A>G	12.37:g.46321729T>C						SFRS2IP_uc001row.2_Silent_p.T270T|SFRS2IP_uc001roy.1_Silent_p.T659T	p.T585T	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	11	2042	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	585					A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	c.1755A>G	CCDS8748.2																																																																																				PASS	0.358	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		50	71	50	71	---	---	---	---
PCED1B	91523	broad.mit.edu	37	12	47629446	47629446	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:47629446C>T	ENST00000546455.1	+	4	1331	c.600C>T	c.(598-600)agC>agT	p.S200S	PCED1B_ENST00000432328.1_Silent_p.S200S|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	200							hydrolase activity (GO:0016787)	p.S200S(1)									ACTTCCACAGCGCCACCGAGG	0.582																																						uc001rpn.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(598-600)AGC>AGT		hypothetical protein LOC91523							34.0	26.0	29.0					12																	47629446		2202	4291	6493	SO:0001819	synonymous_variant	91523						hydrolase activity	g.chr12:47629446C>T	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.600C>T	12.37:g.47629446C>T						FAM113B_uc010slj.1_Silent_p.S80S|FAM113B_uc001rpq.2_Silent_p.S200S	p.S200S	NM_138371	NP_612380	Q96HM7	F113B_HUMAN			4	1331	+	Renal(347;0.138)|Lung SC(27;0.192)		200					Q96B20	Silent	SNP	ENST00000546455.1	37	c.600C>T	CCDS8752.1																																																																																				PASS	0.582	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		11	21	11	21	---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48369843	48369843	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:48369843C>A	ENST00000380518.3	-	50	3664	c.3500G>T	c.(3499-3501)gGc>gTc	p.G1167V	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G1098V	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1167	Triple-helical region.		Missing (in SEDC).		axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G1167V(1)|p.G1098V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACCGACGGGGCCAGGAGGACC	0.632																																						uc001rqu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(3499-3501)GGC>GTC		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						70.0	73.0	72.0					12																	48369843		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48369843C>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3500G>T	12.37:g.48369843C>A	ENSP00000369889:p.Gly1167Val					COL2A1_uc001rqt.2_5'Flank|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.G1098V	p.G1167V	NM_001844	NP_001835	P02458	CO2A1_HUMAN			50	3681	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	1167		Missing (in SEDC).	Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.3500G>T	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438452	0.62955	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.99353	-5.77;-5.77	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.99739	0.9897	H	0.99582	4.64	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.97110	0.998;1.0	D	0.96814	0.9599	10	0.87932	D	0	.	17.064	0.86555	0.0:1.0:0.0:0.0	.	1098;1167	P02458-1;P02458	.;CO2A1_HUMAN	V	1167;1098;1098	ENSP00000369889:G1167V;ENSP00000338213:G1098V	ENSP00000338213:G1098V	G	-	2	0	COL2A1	46656110	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	4.918000	0.63376	2.318000	0.78349	0.462000	0.41574	GGC		PASS	0.632	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		59	88	59	88	---	---	---	---
PFKM	5213	broad.mit.edu	37	12	48537939	48537939	+	Splice_Site	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:48537939A>T	ENST00000312352.7	+	20	2030	c.1991A>T	c.(1990-1992)cAg>cTg	p.Q664L	PFKM_ENST00000359794.5_Splice_Site_p.Q664L|PFKM_ENST00000340802.6_Splice_Site_p.Q735L|PFKM_ENST00000547587.1_Splice_Site_p.Q664L|PFKM_ENST00000395233.2_Splice_Site_p.Q633L|PFKM_ENST00000551804.1_Splice_Site_p.Q633L	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	664	Allosteric activator fructose 2,6- bisphosphate binding. {ECO:0000255|HAMAP- Rule:MF_03184}.|C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.Q735L(1)|p.Q664L(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CACATGCAGCAGGTAGGGAAG	0.517																																						uc001rrc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(1990-1992)CAG>CTG		phosphofructokinase, muscle							120.0	102.0	108.0					12																	48537939		2203	4300	6503	SO:0001630	splice_region_variant	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48537939A>T	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1992+1A>T	12.37:g.48537939A>T						PFKM_uc001rra.1_Missense_Mutation_p.Q349L|PFKM_uc001rrb.1_Missense_Mutation_p.Q735L|PFKM_uc001rrd.2_Missense_Mutation_p.Q349L|PFKM_uc001rre.1_Missense_Mutation_p.Q664L|PFKM_uc001rrg.1_Missense_Mutation_p.Q633L	p.Q664L	NM_000289	NP_000280	P08237	K6PF_HUMAN			20	2161	+			664					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.1991A>T	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.920479	0.92249	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	4.98	4.98	0.66077	Phosphofructokinase domain (2);Phosphofructokinase, conserved site (1);	0.053031	0.85682	D	0.000000	D	0.91630	0.7355	M	0.92169	3.28	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.991	D;D;P	0.91635	0.999;0.996;0.783	D	0.93218	0.6606	10	0.59425	D	0.04	-16.7823	14.8123	0.70006	1.0:0.0:0.0:0.0	.	633;664;735	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	L	735;664;633;633;664;664	ENSP00000345771:Q735L;ENSP00000352842:Q664L;ENSP00000378656:Q633L;ENSP00000448177:Q633L;ENSP00000449426:Q664L;ENSP00000309438:Q664L	ENSP00000309438:Q664L	Q	+	2	0	PFKM	46824206	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.081000	0.94049	2.231000	0.72958	0.460000	0.39030	CAG		PASS	0.517	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289	Missense_Mutation	44	67	44	67	---	---	---	---
CCNT1	904	broad.mit.edu	37	12	49110307	49110307	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:49110307C>T	ENST00000261900.3	-	1	374	c.152G>A	c.(151-153)cGt>cAt	p.R51H		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	51					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)	p.R51H(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CACGTTAAGACGCTGCCCCAT	0.587											OREG0021767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rse.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|breast(1)|skin(1)	6						c.(151-153)CGT>CAT		cyclin T1							117.0	113.0	114.0					12																	49110307		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49110307C>T	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.152G>A	12.37:g.49110307C>T	ENSP00000261900:p.Arg51His		OREG0021767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	959	CCNT1_uc009zkz.1_5'UTR	p.R51H	NM_001240	NP_001231	O60563	CCNT1_HUMAN			1	475	-			51					A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.152G>A	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	C	36	5.712552	0.96830	.	.	ENSG00000129315	ENST00000261900	T	0.12147	2.71	5.65	5.65	0.86999	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11690	-1.0577	10	0.72032	D	0.01	-12.3049	18.8769	0.92341	0.0:1.0:0.0:0.0	.	51	O60563	CCNT1_HUMAN	H	51	ENSP00000261900:R51H	ENSP00000261900:R51H	R	-	2	0	CCNT1	47396574	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.302000	0.78861	2.836000	0.97738	0.655000	0.94253	CGT		PASS	0.587	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		59	99	59	99	---	---	---	---
MMP19	4327	broad.mit.edu	37	12	56235003	56235003	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:56235003G>C	ENST00000322569.4	-	3	282	c.191C>G	c.(190-192)tCt>tGt	p.S64C	MMP19_ENST00000394182.1_5'Flank|MMP19_ENST00000548629.1_Missense_Mutation_p.S64C|MMP19_ENST00000547487.1_5'UTR|MMP19_ENST00000409200.3_Missense_Mutation_p.S64C	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	64					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S64C(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	TGGAAGTTCAGATGCTTCCTG	0.522																																						uc001sib.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(190-192)TCT>TGT		matrix metalloproteinase 19 isoform rasi-1							57.0	57.0	57.0					12																	56235003		2203	4300	6503	SO:0001583	missense	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56235003G>C	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.191C>G	12.37:g.56235003G>C	ENSP00000313437:p.Ser64Cys					MMP19_uc001sia.2_5'Flank|MMP19_uc001sid.2_Intron|MMP19_uc010spw.1_Missense_Mutation_p.S64C	p.S64C	NM_002429	NP_002420	Q99542	MMP19_HUMAN			3	312	-			64					B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	c.191C>G	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939184	0.73557	.	.	ENSG00000123342	ENST00000322569;ENST00000548629;ENST00000409200	T;T;T	0.35605	1.3;1.3;1.3	5.62	4.73	0.59995	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.333388	0.31335	N	0.007828	T	0.54431	0.1858	M	0.80616	2.505	0.80722	D	1	P;D	0.60160	0.732;0.987	B;P	0.57548	0.389;0.823	T	0.58137	-0.7689	10	0.46703	T	0.11	.	11.5544	0.50739	0.0837:0.0:0.9163:0.0	.	64;64	B4E030;Q99542	.;MMP19_HUMAN	C	64	ENSP00000313437:S64C;ENSP00000446979:S64C;ENSP00000386625:S64C	ENSP00000313437:S64C	S	-	2	0	MMP19	54521270	0.990000	0.36364	1.000000	0.80357	0.992000	0.81027	3.298000	0.51818	1.385000	0.46445	0.655000	0.94253	TCT		PASS	0.522	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		53	73	53	73	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57966387	57966387	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:57966387G>C	ENST00000455537.2	+	15	1868	c.1594G>C	c.(1594-1596)Gag>Cag	p.E532Q	KIF5A_ENST00000286452.5_Missense_Mutation_p.E443Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	532					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.E532Q(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCTGGAGTCTGAGTTGCAGCG	0.592																																						uc001sor.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1594-1596)GAG>CAG		kinesin family member 5A							89.0	81.0	84.0					12																	57966387		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57966387G>C	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1594G>C	12.37:g.57966387G>C	ENSP00000408979:p.Glu532Gln					KIF5A_uc010srr.1_Missense_Mutation_p.E443Q	p.E532Q	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			15	1802	+			532					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.1594G>C	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640387	0.87859	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.82984	-1.67;-1.67	5.46	5.46	0.80206	.	0.058546	0.64402	D	0.000003	D	0.90559	0.7041	M	0.77616	2.38	0.58432	D	0.999999	D;D	0.60160	0.97;0.987	D;D	0.63488	0.912;0.915	D	0.90256	0.4297	10	0.49607	T	0.09	.	18.4695	0.90767	0.0:0.0:1.0:0.0	.	443;532	B7Z2M7;Q12840	.;KIF5A_HUMAN	Q	532;443	ENSP00000408979:E532Q;ENSP00000286452:E443Q	ENSP00000286452:E443Q	E	+	1	0	KIF5A	56252654	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	8.996000	0.93539	2.746000	0.94184	0.655000	0.94253	GAG		PASS	0.592	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		39	76	39	76	---	---	---	---
LRIG3	121227	broad.mit.edu	37	12	59276650	59276650	+	Splice_Site	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:59276650C>A	ENST00000320743.3	-	12	1767		c.e12+1		LRIG3_ENST00000379141.4_Splice_Site	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3						otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTTATACTCACCACACACAAA	0.368			T	ROS1	NSCLC																																	uc001sqr.2				Dom	yes		12	12q14.1	121227		leucine-rich repeats and immunoglobulin-like domains 3			E					1	Unknown(1)		lung(1)	skin(3)|ovary(1)	4						c.e12+1		leucine-rich repeats and immunoglobulin-like							82.0	77.0	79.0					12																	59276650		2203	4300	6503	SO:0001630	splice_region_variant	121227					integral to membrane		g.chr12:59276650C>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1480+1G>T	12.37:g.59276650C>A						LRIG3_uc009zqh.2_Splice_Site_p.D434_splice|LRIG3_uc010ssh.1_Splice_Site	p.D494_splice	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		12	1726	-								Q6UXL7|Q8NC72	Splice_Site	SNP	ENST00000320743.3	37	c.1480_splice	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975285	0.74360	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0826	0.97783	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRIG3	57562917	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.755000	0.85180	2.746000	0.94184	0.655000	0.94253	.		PASS	0.368	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	Intron	24	41	24	41	---	---	---	---
AVPR1A	552	broad.mit.edu	37	12	63544586	63544586	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:63544586G>T	ENST00000299178.2	-	1	136	c.31C>A	c.(31-33)Ccc>Acc	p.P11T		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	11					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.P11T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	TTGCCCGAGGGCCCCGCGTCG	0.731																																						uc001sro.1																			1	Substitution - Missense(1)		lung(1)		0						c.(31-33)CCC>ACC		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						11.0	13.0	12.0					12																	63544586		1800	3581	5381	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63544586G>T	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.31C>A	12.37:g.63544586G>T	ENSP00000299178:p.Pro11Thr						p.P11T	NM_000706	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	2005	-			11			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000299178.2	37	c.31C>A	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305906	0.40795	.	.	ENSG00000166148	ENST00000299178	T	0.59224	0.28	5.19	-3.34	0.04943	.	2.537350	0.01258	N	0.009090	T	0.44265	0.1285	L	0.36672	1.1	0.09310	N	1	B	0.19583	0.037	B	0.15870	0.014	T	0.13926	-1.0491	9	.	.	.	-3.0347	6.2442	0.20807	0.3422:0.2419:0.416:0.0	.	11	P37288	V1AR_HUMAN	T	11	ENSP00000299178:P11T	.	P	-	1	0	AVPR1A	61830853	0.000000	0.05858	0.000000	0.03702	0.336000	0.28762	-0.060000	0.11712	-0.439000	0.07222	0.561000	0.74099	CCC		PASS	0.731	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			21	24	21	24	---	---	---	---
FRS2	10818	broad.mit.edu	37	12	69968729	69968729	+	Silent	SNP	C	C	T	rs372181532		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:69968729C>T	ENST00000550389.1	+	7	1767	c.1521C>T	c.(1519-1521)ccC>ccT	p.P507P	FRS2_ENST00000397997.2_Silent_p.P507P|FRS2_ENST00000549921.1_Silent_p.P507P|FRS2_ENST00000299293.2_Silent_p.P507P	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	507					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.P507P(2)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTGATCTGCCCATGTGAGCCT	0.388																																						uc001suy.2																			2	Substitution - coding silent(2)		lung(2)	prostate(1)|kidney(1)	2						c.(1519-1521)CCC>CCT		fibroblast growth factor receptor substrate 2		C	,	1,3943		0,1,1971	71.0	65.0	67.0		1521,1521	1.8	1.0	12		67	0,8308		0,0,4154	no	coding-synonymous,coding-synonymous	FRS2	NM_001042555.1,NM_006654.3	,	0,1,6125	TT,TC,CC		0.0,0.0254,0.0082	,	507/509,507/509	69968729	1,12251	1972	4154	6126	SO:0001819	synonymous_variant	10818				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr12:69968729C>T	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.1521C>T	12.37:g.69968729C>T						FRS2_uc001suz.2_Silent_p.P507P|FRS2_uc009zrj.2_Silent_p.P507P|FRS2_uc009zrk.2_Silent_p.P507P	p.P507P	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		10	2031	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		507					B0LPF2|B2R684|O43558|Q7LDQ6	Silent	SNP	ENST00000550389.1	37	c.1521C>T	CCDS41809.1																																																																																				PASS	0.388	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		35	68	35	68	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78513299	78513299	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:78513299C>A	ENST00000397909.2	+	15	3496	c.3323C>A	c.(3322-3324)gCa>gAa	p.A1108E	NAV3_ENST00000228327.6_Missense_Mutation_p.A1108E|NAV3_ENST00000536525.2_Missense_Mutation_p.A1108E|NAV3_ENST00000266692.7_Missense_Mutation_p.A1108E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1108	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.A1108E(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAGTCAAATGCAGGGAGAAAA	0.488										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(3322-3324)GCA>GAA		neuron navigator 3							70.0	72.0	72.0					12																	78513299		1977	4154	6131	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513299C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3323C>A	12.37:g.78513299C>A	ENSP00000381007:p.Ala1108Glu	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.A1108E|NAV3_uc010sub.1_Missense_Mutation_p.A608E|NAV3_uc009zsf.2_Missense_Mutation_p.A116E	p.A1108E	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			15	3496	+			1108			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3323C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.32|18.32	3.599151|3.599151	0.66332|0.66332	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000552895	T;T;T;T|.	0.28666|.	1.6;1.6;1.6;1.6|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.39834|.	U|.	0.001250|.	T|.	0.69628|.	0.3132|.	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	P;D;D;P|.	0.69078|.	0.895;0.997;0.969;0.763|.	P;D;P;P|.	0.65233|.	0.652;0.933;0.711;0.463|.	T|.	0.65067|.	-0.6258|.	10|.	0.56958|.	D|.	0.05|.	-9.4165|-9.4165	19.4846|19.4846	0.95024|0.95024	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1108;1108;1108;1108|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	E|X	1108|179	ENSP00000446132:A1108E;ENSP00000381007:A1108E;ENSP00000228327:A1108E;ENSP00000266692:A1108E|.	ENSP00000228327:A1108E|.	A|C	+|+	2|3	0|2	NAV3|NAV3	77037430|77037430	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.969000|0.969000	0.65631|0.65631	4.284000|4.284000	0.58983|0.58983	2.579000|2.579000	0.87056|0.87056	0.655000|0.655000	0.94253|0.94253	GCA|TGC		PASS	0.488	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		34	64	34	64	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78520960	78520960	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:78520960A>G	ENST00000397909.2	+	17	4425	c.4252A>G	c.(4252-4254)Aga>Gga	p.R1418G	NAV3_ENST00000228327.6_Missense_Mutation_p.R1418G|NAV3_ENST00000536525.2_Missense_Mutation_p.R1418G|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1418	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R1418G(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCAGCTTGACAGAAATACACT	0.363										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(4252-4254)AGA>GGA		neuron navigator 3							174.0	160.0	164.0					12																	78520960		1856	4093	5949	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78520960A>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4252A>G	12.37:g.78520960A>G	ENSP00000381007:p.Arg1418Gly	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.R1418G|NAV3_uc010sub.1_Intron|NAV3_uc009zsf.2_Intron	p.R1418G	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			17	4425	+			1418			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4252A>G		.	.	.	.	.	.	.	.	.	.	A	20.4	3.982336	0.74474	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327	T;T;T	0.52983	0.64;0.88;0.97	5.86	5.86	0.93980	.	0.000000	0.39909	U	0.001228	T	0.66458	0.2791	M	0.73217	2.22	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.80764	0.994;0.99	T	0.70055	-0.4977	10	0.87932	D	0	-25.0532	12.1347	0.53964	0.8571:0.1429:0.0:0.0	.	1418;1418	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	G	1418	ENSP00000446132:R1418G;ENSP00000381007:R1418G;ENSP00000228327:R1418G	ENSP00000228327:R1418G	R	+	1	2	NAV3	77045091	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.701000	0.74624	2.229000	0.72834	0.528000	0.53228	AGA		PASS	0.363	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		34	43	34	43	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78582544	78582544	+	Silent	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:78582544T>A	ENST00000397909.2	+	33	6215	c.6042T>A	c.(6040-6042)acT>acA	p.T2014T	NAV3_ENST00000552300.1_Intron|NAV3_ENST00000228327.6_Silent_p.T1992T|NAV3_ENST00000536525.2_Silent_p.T1992T|NAV3_ENST00000266692.7_Silent_p.T1815T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2014						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.T1992T(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACATCATCACTGTGAACCTCA	0.398										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(6040-6042)ACT>ACA		neuron navigator 3							94.0	87.0	89.0					12																	78582544		1878	4110	5988	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78582544T>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6042T>A	12.37:g.78582544T>A		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.T1992T|NAV3_uc010sub.1_Silent_p.T1471T|NAV3_uc009zsf.2_Silent_p.T823T	p.T2014T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			33	6215	+			2014					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.6042T>A		.	.	.	.	.	.	.	.	.	.	T	9.222	1.033560	0.19590	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	T	0.63988	0.2558	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63019	-0.6730	4	.	.	.	-12.5577	11.4564	0.50185	0.0:0.0693:0.0:0.9307	.	.	.	.	S	887	.	.	C	+	1	0	NAV3	77106675	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.774000	0.38573	2.282000	0.76494	0.533000	0.62120	TGT		PASS	0.398	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		40	60	40	60	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81741318	81741318	+	Missense_Mutation	SNP	C	C	A	rs368631129		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:81741318C>A	ENST00000549396.1	-	18	2386	c.2226G>T	c.(2224-2226)atG>atT	p.M742I	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.M724I|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.M589I|PPFIA2_ENST00000550584.2_Missense_Mutation_p.M742I|PPFIA2_ENST00000548586.1_Missense_Mutation_p.M742I|PPFIA2_ENST00000443686.3_Missense_Mutation_p.M643I|PPFIA2_ENST00000552948.1_Missense_Mutation_p.M742I|PPFIA2_ENST00000333447.7_Missense_Mutation_p.M724I|PPFIA2_ENST00000541570.2_Missense_Mutation_p.M309I|PPFIA2_ENST00000407050.4_Missense_Mutation_p.M668I	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	742					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.M742I(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATACCAGTGTCATGACTCCCA	0.488																																						uc001szo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(2224-2226)ATG>ATT		PTPRF interacting protein alpha 2							123.0	122.0	122.0					12																	81741318		1966	4165	6131	SO:0001583	missense	8499							g.chr12:81741318C>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2226G>T	12.37:g.81741318C>A	ENSP00000450337:p.Met742Ile					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_Intron	p.M742I	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			18	2387	-			668					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.2226G>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834232	0.71373	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T	0.22945	2.25;2.26;1.93;1.94;2.26;2.26;1.93;2.26	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	M	0.66939	2.045	0.80722	D	1	B	0.34061	0.436	B	0.27796	0.083	T	0.06197	-1.0840	10	0.38643	T	0.18	-21.9652	19.793	0.96468	0.0:1.0:0.0:0.0	.	742	O75334	LIPA2_HUMAN	I	742;724;309;668;753;724;742;643;742	ENSP00000450337:M742I;ENSP00000450298:M724I;ENSP00000438337:M309I;ENSP00000385093:M668I;ENSP00000327416:M724I;ENSP00000449338:M742I;ENSP00000388373:M643I;ENSP00000447868:M742I	ENSP00000327416:M724I	M	-	3	0	PPFIA2	80265449	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.747000	0.85070	2.741000	0.93983	0.650000	0.86243	ATG		PASS	0.488	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			87	113	87	113	---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88482973	88482973	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:88482973T>C	ENST00000552810.1	-	31	4208	c.3865A>G	c.(3865-3867)Aca>Gca	p.T1289A	CEP290_ENST00000547691.2_Missense_Mutation_p.T349A|CEP290_ENST00000397838.3_Missense_Mutation_p.T349A|CEP290_ENST00000309041.7_Missense_Mutation_p.T1291A	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1289					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.T1291A(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TGAATCATTGTTTTGGAGAAC	0.368																																						uc001tar.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|pancreas(1)	7						c.(3865-3867)ACA>GCA		centrosomal protein 290kDa							128.0	113.0	117.0					12																	88482973		1832	4090	5922	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88482973T>C	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3865A>G	12.37:g.88482973T>C	ENSP00000448012:p.Thr1289Ala					CEP290_uc001taq.2_Missense_Mutation_p.T349A	p.T1289A	NM_025114	NP_079390	O15078	CE290_HUMAN			31	4209	-			1289			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.3865A>G	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.474098	0.26423	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.62364	0.56;0.03;0.03;0.56	5.57	4.43	0.53597	.	0.195130	0.53938	D	0.000043	T	0.56217	0.1970	L	0.54323	1.7	0.36740	D	0.882188	P	0.46578	0.88	P	0.45119	0.47	T	0.58651	-0.7599	10	0.08179	T	0.78	.	11.3094	0.49356	0.0:0.0714:0.0:0.9286	.	1289	O15078	CE290_HUMAN	A	349;1289;1291;349	ENSP00000446905:T349A;ENSP00000448012:T1289A;ENSP00000308021:T1291A;ENSP00000380938:T349A	ENSP00000308021:T1291A	T	-	1	0	CEP290	87007104	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	3.954000	0.56708	0.959000	0.37980	-0.326000	0.08463	ACA		PASS	0.368	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		20	30	20	30	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100453045	100453045	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:100453045T>G	ENST00000279907.7	-	14	2222	c.2010A>C	c.(2008-2010)gaA>gaC	p.E670D	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.E320D	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	670								p.E670D(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTTTATAAATTTCATGCATTT	0.343																																						uc001tgq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2008-2010)GAA>GAC		UHRF1 (ICBP90) binding protein 1-like isoform a							63.0	73.0	69.0					12																	100453045		2203	4299	6502	SO:0001583	missense	23074							g.chr12:100453045T>G		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2010A>C	12.37:g.100453045T>G	ENSP00000279907:p.Glu670Asp					UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.E320D	p.E670D	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			14	2239	-			670					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.2010A>C	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	T	0.249	-1.008005	0.02112	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.09073	3.02;3.04	5.78	1.92	0.25849	.	0.200017	0.50627	N	0.000107	T	0.01156	0.0038	N	0.00162	-1.95	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36672	-0.9738	10	0.02654	T	1	-11.6283	1.1354	0.01754	0.405:0.0888:0.215:0.2912	.	670	A0JNW5	UH1BL_HUMAN	D	670;320	ENSP00000279907:E670D;ENSP00000444824:E320D	ENSP00000279907:E670D	E	-	3	2	UHRF1BP1L	98977176	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	0.482000	0.22276	0.451000	0.26802	0.528000	0.53228	GAA		PASS	0.343	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		36	78	36	78	---	---	---	---
SLC17A8	246213	broad.mit.edu	37	12	100811884	100811884	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:100811884C>A	ENST00000323346.5	+	11	1688	c.1375C>A	c.(1375-1377)Ctc>Atc	p.L459I	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.L409I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	459					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.L459I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AGTGGGAACCCTCTCTGGAAT	0.502																																						uc010svi.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1375-1377)CTC>ATC		solute carrier family 17 (sodium-dependent							178.0	163.0	168.0					12																	100811884		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100811884C>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1375C>A	12.37:g.100811884C>A	ENSP00000316909:p.Leu459Ile					SLC17A8_uc009ztx.2_Missense_Mutation_p.L409I	p.L459I	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			11	1688	+			459			Helical; (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.1375C>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335257	0.60853	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.70516	-0.49;-0.49	5.55	5.55	0.83447	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	N	0.17345	0.48	0.58432	D	0.999999	P;P	0.40931	0.558;0.733	B;P	0.45119	0.383;0.47	T	0.52578	-0.8557	10	0.08179	T	0.78	.	10.345	0.43901	0.0:0.8539:0.0:0.1461	.	459;409	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	I	459;409	ENSP00000316909:L459I;ENSP00000376715:L409I	ENSP00000316909:L459I	L	+	1	0	SLC17A8	99336015	0.641000	0.27251	1.000000	0.80357	0.988000	0.76386	1.344000	0.33941	2.773000	0.95371	0.655000	0.94253	CTC		PASS	0.502	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		75	127	75	127	---	---	---	---
SLC5A8	160728	broad.mit.edu	37	12	101555755	101555755	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:101555755T>A	ENST00000536262.2	-	13	2185	c.1627A>T	c.(1627-1629)Aca>Tca	p.T543S		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.T543S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TAGTTACCTGTTGATAAACTG	0.308																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1627-1629)ACA>TCA		solute carrier family 5 (iodide transporter),							153.0	158.0	157.0					12																	101555755		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101555755T>A	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1627A>T	12.37:g.101555755T>A	ENSP00000445340:p.Thr543Ser						p.T543S	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			13	2017	-			543			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.1627A>T	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.262276	0.39995	.	.	ENSG00000256870	ENST00000536262	T	0.62498	0.02	5.5	5.5	0.81552	.	0.104529	0.64402	D	0.000004	T	0.55321	0.1913	M	0.68593	2.085	0.39599	D	0.969701	P	0.38395	0.629	B	0.31390	0.129	T	0.61826	-0.6983	10	0.46703	T	0.11	.	9.9173	0.41442	0.1521:0.0:0.0:0.8479	.	543	Q8N695	SC5A8_HUMAN	S	543	ENSP00000445340:T543S	ENSP00000445340:T543S	T	-	1	0	SLC5A8	100079886	0.998000	0.40836	0.997000	0.53966	0.530000	0.34684	2.735000	0.47377	2.098000	0.63641	0.477000	0.44152	ACA		PASS	0.308	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		99	199	99	199	---	---	---	---
KIAA1033	23325	broad.mit.edu	37	12	105558084	105558084	+	Splice_Site	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:105558084A>T	ENST00000332180.5	+	31	3440	c.3353A>T	c.(3352-3354)cAg>cTg	p.Q1118L	KIAA1033_ENST00000547171.1_3'UTR	NM_015275.1	NP_056090.1			KIAA1033									p.Q1118L(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GTCTATCTACAGGTAGAGAGG	0.403																																						uc001tld.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)|central_nervous_system(1)	2						c.(3352-3354)CAG>CTG		hypothetical protein LOC23325							59.0	60.0	59.0					12																	105558084		1872	4108	5980	SO:0001630	splice_region_variant	23325				endosome transport	WASH complex		g.chr12:105558084A>T	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.3354+1A>T	12.37:g.105558084A>T						KIAA1033_uc010swr.1_Missense_Mutation_p.Q1119L|KIAA1033_uc010sws.1_Missense_Mutation_p.Q930L	p.Q1118L	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN			31	3440	+			1118						Missense_Mutation	SNP	ENST00000332180.5	37	c.3353A>T	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.461587	0.63513	.	.	ENSG00000136051	ENST00000332180	T	0.77229	-1.08	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	L	0.54323	1.7	0.80722	D	1	B;B	0.29552	0.248;0.248	B;B	0.25405	0.06;0.06	T	0.73886	-0.3841	10	0.56958	D	0.05	.	16.1485	0.81594	1.0:0.0:0.0:0.0	.	1119;1118	B7ZKT9;Q2M389	.;WASH7_HUMAN	L	1118	ENSP00000328062:Q1118L	ENSP00000328062:Q1118L	Q	+	2	0	KIAA1033	104082214	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.281000	0.76405	0.533000	0.62120	CAG		PASS	0.403	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275	Missense_Mutation	30	57	30	57	---	---	---	---
ACACB	32	broad.mit.edu	37	12	109577292	109577292	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:109577292G>T	ENST00000338432.7	+	2	201	c.82G>T	c.(82-84)Gac>Tac	p.D28Y	ACACB_ENST00000377848.3_Missense_Mutation_p.D28Y|ACACB_ENST00000377854.5_Missense_Mutation_p.D28Y			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	28					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.D28Y(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GAAAATGACGGACTCCAAGCC	0.468																																						uc001tob.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(82-84)GAC>TAC		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						97.0	96.0	96.0					12																	109577292		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109577292G>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.82G>T	12.37:g.109577292G>T	ENSP00000341044:p.Asp28Tyr					ACACB_uc001toc.2_Missense_Mutation_p.D28Y	p.D28Y	NM_001093	NP_001084	O00763	ACACB_HUMAN			2	201	+			28					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.82G>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001262	0.54254	.	.	ENSG00000076555	ENST00000338432;ENST00000539864;ENST00000377848;ENST00000377854	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.75	5.75	0.90469	.	0.222920	0.32244	N	0.006370	T	0.71710	0.3372	L	0.47716	1.5	0.80722	D	1	D	0.65815	0.995	P	0.54372	0.75	T	0.74234	-0.3731	10	0.87932	D	0	.	15.4381	0.75162	0.0:0.0:1.0:0.0	.	28	O00763	ACACB_HUMAN	Y	28;3;28;28	ENSP00000341044:D28Y;ENSP00000443494:D3Y;ENSP00000367079:D28Y;ENSP00000367085:D28Y	ENSP00000341044:D28Y	D	+	1	0	ACACB	108061675	0.872000	0.30054	0.621000	0.29145	0.327000	0.28475	2.255000	0.43222	2.732000	0.93576	0.650000	0.86243	GAC		PASS	0.468	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		50	81	50	81	---	---	---	---
NAA25	80018	broad.mit.edu	37	12	112499079	112499079	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:112499079C>T	ENST00000261745.4	-	12	1511	c.1263G>A	c.(1261-1263)acG>acA	p.T421T	RP1-267L14.3_ENST00000551125.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	421						cytoplasm (GO:0005737)		p.T421T(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CAAGTAACCTCGTCAGCTGCA	0.468																																						uc001ttm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(1261-1263)ACG>ACA		mitochondrial distribution and morphology 20							117.0	101.0	107.0					12																	112499079		2203	4300	6503	SO:0001819	synonymous_variant	80018					cytoplasm	protein binding	g.chr12:112499079C>T	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1263G>A	12.37:g.112499079C>T						NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Silent_p.T393T|NAA25_uc009zwa.1_Silent_p.T421T	p.T421T	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN			12	1283	-			421					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	ENST00000261745.4	37	c.1263G>A	CCDS9159.1																																																																																				PASS	0.468	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		21	54	21	54	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112622317	112622317	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:112622317C>G	ENST00000430131.2	-	60	10332	c.9187G>C	c.(9187-9189)Gcc>Ccc	p.A3063P	HECTD4_ENST00000550722.1_Missense_Mutation_p.A3339P|HECTD4_ENST00000377560.5_Missense_Mutation_p.A3313P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3063					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.A3313P(1)|p.A3063P(1)									GAGGCGGAGGCGCTGATGCTC	0.662																																						uc009zwc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(9187-9189)GCC>CCC		chromosome 12 open reading frame 51							23.0	34.0	30.0					12																	112622317		2196	4285	6481	SO:0001583	missense	283450							g.chr12:112622317C>G	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9187G>C	12.37:g.112622317C>G	ENSP00000404379:p.Ala3063Pro						p.A3063P	NM_001109662	NP_001103132					54	9205	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.9187G>C		.	.	.	.	.	.	.	.	.	.	C	15.84	2.952586	0.53293	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.54675	0.56;0.57;0.56	5.82	5.82	0.92795	.	.	.	.	.	T	0.45756	0.1358	N	0.19112	0.55	0.50467	D	0.999876	P	0.50710	0.938	B	0.43536	0.423	T	0.51795	-0.8660	9	0.87932	D	0	.	20.1054	0.97890	0.0:1.0:0.0:0.0	.	3063	Q9Y4D8	K0614_HUMAN	P	3313;3063;3339	ENSP00000366783:A3313P;ENSP00000404379:A3063P;ENSP00000449784:A3339P	ENSP00000366783:A3313P	A	-	1	0	C12orf51	111106700	0.996000	0.38824	0.980000	0.43619	0.787000	0.44495	3.467000	0.53078	2.757000	0.94681	0.655000	0.94253	GCC		PASS	0.662	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		9	13	9	13	---	---	---	---
CIT	11113	broad.mit.edu	37	12	120135581	120135581	+	Nonsense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:120135581G>C	ENST00000261833.7	-	45	5691	c.5639C>G	c.(5638-5640)tCa>tGa	p.S1880*	CIT_ENST00000537607.1_5'UTR|RP1-127H14.3_ENST00000535109.1_5'Flank|CIT_ENST00000392521.2_Nonsense_Mutation_p.S1922*	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1880	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.S1880*(1)|p.S1922*(1)|p.S1908*(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AATCGCTCCTGAGGAAATGGC	0.577																																						uc001txi.1																			3	Substitution - Nonsense(3)		lung(3)	ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(5638-5640)TCA>TGA		citron							98.0	101.0	100.0					12																	120135581		2203	4300	6503	SO:0001587	stop_gained	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120135581G>C	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5639C>G	12.37:g.120135581G>C	ENSP00000261833:p.Ser1880*					CIT_uc001txh.1_Nonsense_Mutation_p.S1399*|CIT_uc001txj.1_Nonsense_Mutation_p.S1922*	p.S1880*	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	45	5692	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1880			CNH.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Nonsense_Mutation	SNP	ENST00000261833.7	37	c.5639C>G	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.139754|12.139754	0.99639|0.99639	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|.	.|.	.|.	5.07|5.07	4.17|4.17	0.49024|0.49024	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.73860|.	0.3641|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.80723|.	-0.1255|.	3|.	.|0.59425	.|D	.|0.04	.|.	15.8486|15.8486	0.78910|0.78910	0.0:0.1361:0.8639:0.0|0.0:0.1361:0.8639:0.0	.|.	.|.	.|.	.|.	E|X	1493|1922;1880	.|.	.|ENSP00000261833:S1880X	Q|S	-|-	1|2	0|0	CIT|CIT	118619964|118619964	1.000000|1.000000	0.71417|0.71417	0.885000|0.885000	0.34714|0.34714	0.517000|0.517000	0.34286|0.34286	7.565000|7.565000	0.82337|0.82337	1.251000|1.251000	0.43983|0.43983	0.655000|0.655000	0.94253|0.94253	CAG|TCA		PASS	0.577	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		73	115	73	115	---	---	---	---
RSRC2	65117	broad.mit.edu	37	12	122995669	122995669	+	Silent	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:122995669T>C	ENST00000331738.7	-	7	937	c.792A>G	c.(790-792)caA>caG	p.Q264Q	RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Silent_p.Q216Q	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	264							poly(A) RNA binding (GO:0044822)	p.Q264Q(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		CAGCTATTTCTTGTTGTTTTT	0.313																																						uc001ucr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(790-792)CAA>CAG		arginine/serine-rich coiled-coil 2 isoform a							68.0	63.0	65.0					12																	122995669		2201	4298	6499	SO:0001819	synonymous_variant	65117							g.chr12:122995669T>C	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.792A>G	12.37:g.122995669T>C						RSRC2_uc001uco.2_Silent_p.Q32Q|RSRC2_uc001ucp.2_Silent_p.Q205Q|RSRC2_uc001ucq.2_Silent_p.Q32Q|RSRC2_uc001ucs.2_Silent_p.Q32Q|RSRC2_uc001uct.2_Silent_p.Q216Q|RSRC2_uc001ucu.2_Silent_p.Q264Q	p.Q264Q	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	7	938	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		264			Potential.		Q6N040|Q6NW16|Q9H864	Silent	SNP	ENST00000331738.7	37	c.792A>G	CCDS31920.1																																																																																				PASS	0.313	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		22	19	22	19	---	---	---	---
ZNF664	144348	broad.mit.edu	37	12	124497330	124497330	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:124497330C>A	ENST00000539644.1	+	6	2469	c.639C>A	c.(637-639)agC>agA	p.S213R	ZNF664_ENST00000392404.3_Missense_Mutation_p.S213R|ZNF664_ENST00000538932.2_Missense_Mutation_p.S213R|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000337815.4_Missense_Mutation_p.S213R			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	213					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.S213R(1)		breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		AGAGTTCGAGCCTGTGCATCC	0.522																																						uc001ufz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(637-639)AGC>AGA		zinc finger protein 664							102.0	102.0	102.0					12																	124497330		2203	4300	6503	SO:0001583	missense	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124497330C>A		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.639C>A	12.37:g.124497330C>A	ENSP00000441405:p.Ser213Arg					ZNF664_uc001uga.2_Missense_Mutation_p.S213R|ZNF664_uc001ugb.2_Missense_Mutation_p.S213R	p.S213R	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	2469	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		213			C2H2-type 8.		B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	c.639C>A	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	C	9.923	1.212809	0.22289	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	4.25	1.46	0.22682	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000187	T	0.06735	0.0172	L	0.42529	1.33	0.32285	N	0.567058	B	0.19445	0.036	B	0.17722	0.019	T	0.14448	-1.0472	10	0.29301	T	0.29	-35.2904	6.5749	0.22560	0.0:0.6086:0.0:0.3914	.	213	Q8N3J9	ZN664_HUMAN	R	213;213;213;213;151	ENSP00000441405:S213R;ENSP00000376205:S213R;ENSP00000440645:S213R;ENSP00000337320:S213R	ENSP00000337320:S213R	S	+	3	2	ZNF664	123063283	0.005000	0.15991	0.998000	0.56505	0.907000	0.53573	-0.200000	0.09478	0.337000	0.23665	-0.136000	0.14681	AGC		PASS	0.522	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437		22	137	22	137	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133210913	133210913	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr12:133210913C>T	ENST00000320574.5	-	43	5906	c.5863G>A	c.(5863-5865)Gat>Aat	p.D1955N	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.D1928N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1955					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.D1955N(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	tcctcctcatcgtcctcattt	0.522								DNA polymerases (catalytic subunits)																														uc001uks.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(5863-5865)GAT>AAT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							203.0	166.0	179.0					12																	133210913		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133210913C>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5863G>A	12.37:g.133210913C>T	ENSP00000322570:p.Asp1955Asn					POLE_uc001ukq.1_Missense_Mutation_p.D165N|POLE_uc001ukr.1_Missense_Mutation_p.D759N|POLE_uc010tbq.1_RNA	p.D1955N	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	43	5907	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1955					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.5863G>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	9.713	1.157606	0.21454	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.02812	4.17;4.15;4.15	4.23	1.3	0.21679	.	0.989456	0.08245	N	0.975446	T	0.01870	0.0059	N	0.08118	0	0.09310	N	0.999999	B;B	0.21606	0.058;0.012	B;B	0.08055	0.003;0.003	T	0.51124	-0.8745	10	0.21540	T	0.41	.	9.5759	0.39457	0.0:0.7308:0.1195:0.1497	.	1955;165	Q07864;B3KS74	DPOE1_HUMAN;.	N	165;1955;1966;1928	ENSP00000322570:D1955N;ENSP00000406383:D1966N;ENSP00000445753:D1928N	ENSP00000322570:D1955N	D	-	1	0	POLE	131720986	0.841000	0.29509	0.000000	0.03702	0.001000	0.01503	2.896000	0.48656	-0.323000	0.08602	-1.134000	0.01955	GAT		PASS	0.522	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		31	51	31	51	---	---	---	---
TUBA3C	7278	broad.mit.edu	37	13	19748255	19748255	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr13:19748255G>T	ENST00000400113.3	-	5	1205	c.1101C>A	c.(1099-1101)gaC>gaA	p.D367E		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	367					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.D367E(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCTTGGCCAGGTCTCCCCCAG	0.582																																						uc009zzj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1099-1101)GAC>GAA		tubulin, alpha 3c							57.0	55.0	56.0					13																	19748255		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748255G>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1101C>A	13.37:g.19748255G>T	ENSP00000382982:p.Asp367Glu						p.D367E	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	5	1150	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	367					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1101C>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	11.47	1.647368	0.29246	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.84370	-1.84	1.22	1.22	0.21188	.	0.000000	0.48767	U	0.000162	D	0.83252	0.5214	.	.	.	0.34902	D	0.746588	.	.	.	.	.	.	D	0.83865	0.0270	7	0.87932	D	0	.	3.552	0.07850	0.2576:0.0:0.7424:0.0	.	.	.	.	E	367	ENSP00000382982:D367E	ENSP00000354037:D367E	D	-	3	2	TUBA3C	18646255	1.000000	0.71417	0.996000	0.52242	0.633000	0.38033	2.734000	0.47368	0.982000	0.38575	0.194000	0.17425	GAC		PASS	0.582	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		16	44	16	44	---	---	---	---
MICU2	221154	broad.mit.edu	37	13	22084201	22084201	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr13:22084201G>A	ENST00000382374.4	-	8	768	c.703C>T	c.(703-705)Cag>Tag	p.Q235*		NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	235	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)	p.Q235*(1)									AAACGCATCTGAAGAGTTGTG	0.249																																						uc001uof.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(703-705)CAG>TAG		EF-hand domain family, member A1							49.0	55.0	53.0					13																	22084201		2197	4283	6480	SO:0001587	stop_gained	221154						calcium ion binding	g.chr13:22084201G>A	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.703C>T	13.37:g.22084201G>A	ENSP00000371811:p.Gln235*					EFHA1_uc010tct.1_Nonsense_Mutation_p.Q25*	p.Q235*	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)	8	725	-		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)	235			EF-hand 2.		Q8N0T6|Q8NAX8	Nonsense_Mutation	SNP	ENST00000382374.4	37	c.703C>T	CCDS9297.1	.	.	.	.	.	.	.	.	.	.	g	14.03	2.413541	0.42817	.	.	ENSG00000165487	ENST00000382374	.	.	.	5.41	3.67	0.42095	.	0.235851	0.45361	D	0.000372	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-19.8441	15.7621	0.78091	0.0:0.279:0.721:0.0	.	.	.	.	X	235	.	ENSP00000371811:Q235X	Q	-	1	0	EFHA1	20982201	1.000000	0.71417	0.994000	0.49952	0.168000	0.22595	3.709000	0.54853	0.750000	0.32877	-0.127000	0.14921	CAG		PASS	0.249	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726		24	52	24	52	---	---	---	---
ATP8A2	51761	broad.mit.edu	37	13	26156084	26156084	+	Missense_Mutation	SNP	C	C	G	rs376458112		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr13:26156084C>G	ENST00000381655.2	+	23	2277	c.2135C>G	c.(2134-2136)gCg>gGg	p.A712G	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.A672G	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	672					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A712G(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CAAGAAACTGCGATTAATATA	0.328																																						uc001uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(2134-2136)GCG>GGG		ATPase, aminophospholipid transporter-like,							66.0	62.0	64.0					13																	26156084		1813	4075	5888	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26156084C>G	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2135C>G	13.37:g.26156084C>G	ENSP00000371070:p.Ala712Gly					ATP8A2_uc010tdi.1_Missense_Mutation_p.A672G|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.A222G	p.A712G	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	23	2277	+		Breast(139;0.0201)|Lung SC(185;0.0225)	672			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2135C>G	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621789	0.87460	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.93426	-3.22;-3.22	6.17	6.17	0.99709	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.98394	0.9466	H	0.98577	4.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.98657	1.0682	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	672;492;672	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	G	712;672;492	ENSP00000371070:A712G;ENSP00000255283:A672G	ENSP00000255283:A672G	A	+	2	0	ATP8A2	25054084	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.007000	0.70731	2.941000	0.99782	0.655000	0.94253	GCG		PASS	0.328	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		9	38	9	38	---	---	---	---
CDX2	1045	broad.mit.edu	37	13	28537332	28537332	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr13:28537332G>C	ENST00000381020.7	-	3	2994	c.862C>G	c.(862-864)Ctg>Gtg	p.L288V	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	288					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L288V(1)		endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GAGGCTTGCAGGGAAGACACC	0.677			T	ETV6	AML																																	uc001urv.2				Dom	yes		13	13q12.3	1045	T	caudal type homeo box transcription factor 2			L	ETV6		AML		1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(862-864)CTG>GTG		caudal type homeobox 2							67.0	64.0	65.0					13																	28537332		2203	4300	6503	SO:0001583	missense	1045				organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:28537332G>C	Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"""Homeoboxes / ANTP class : HOXL subclass"""	1806	protein-coding gene	gene with protein product		600297	"""caudal type homeo box transcription factor 2"""	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.862C>G	13.37:g.28537332G>C	ENSP00000370408:p.Leu288Val						p.L288V	NM_001265	NP_001256	Q99626	CDX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)	3	1036	-	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	288					O00503|Q5VTU7|Q969L8|Q9UD92	Missense_Mutation	SNP	ENST00000381020.7	37	c.862C>G	CCDS9328.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657171	0.47467	.	.	ENSG00000165556	ENST00000381020	D	0.90004	-2.6	5.37	3.62	0.41486	.	0.000000	0.38959	N	0.001503	T	0.78892	0.4355	L	0.27053	0.805	0.26691	N	0.971346	P	0.51791	0.948	B	0.40534	0.332	T	0.69351	-0.5168	10	0.26408	T	0.33	-26.3282	7.9565	0.30047	0.2655:0.0:0.7345:0.0	.	288	Q99626	CDX2_HUMAN	V	288	ENSP00000370408:L288V	ENSP00000370408:L288V	L	-	1	2	CDX2	27435332	0.000000	0.05858	1.000000	0.80357	0.966000	0.64601	0.256000	0.18351	0.624000	0.30286	0.655000	0.94253	CTG		PASS	0.677	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044312.5			12	41	12	41	---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28611325	28611325	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr13:28611325T>C	ENST00000241453.7	-	10	1387	c.1306A>G	c.(1306-1308)Aga>Gga	p.R436G	FLT3_ENST00000380982.4_Missense_Mutation_p.R436G|FLT3_ENST00000537084.1_Missense_Mutation_p.R436G	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	436					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R436G(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	AACTTACTTCTTATATTCAGC	0.308			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2				Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(1306-1308)AGA>GGA		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						84.0	87.0	86.0					13																	28611325		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28611325T>C	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1306A>G	13.37:g.28611325T>C	ENSP00000241453:p.Arg436Gly					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.R436G	p.R436G	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	10	1388	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	436			Extracellular (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.1306A>G	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.424342	0.43020	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.78126	-1.08;-1.15;-0.91	6.08	3.54	0.40534	Immunoglobulin-like fold (1);	0.219546	0.41097	D	0.000951	T	0.63189	0.2490	N	0.24115	0.695	0.33009	D	0.527242	B;B	0.32245	0.355;0.361	B;B	0.26770	0.073;0.036	T	0.66520	-0.5903	10	0.44086	T	0.13	.	12.99	0.58614	0.0:0.0:0.3878:0.6122	.	436;436	P36888-2;P36888	.;FLT3_HUMAN	G	436	ENSP00000241453:R436G;ENSP00000370369:R436G;ENSP00000438139:R436G	ENSP00000241453:R436G	R	-	1	2	FLT3	27509325	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	2.233000	0.43027	0.484000	0.27630	0.533000	0.62120	AGA		PASS	0.308	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			17	49	17	49	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32911598	32911598	+	Missense_Mutation	SNP	G	G	A	rs397507655		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr13:32911598G>A	ENST00000380152.3	+	11	3339	c.3106G>A	c.(3106-3108)Gaa>Aaa	p.E1036K	BRCA2_ENST00000544455.1_Missense_Mutation_p.E1036K			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1036			E -> K (in BC; unknown pathological significance). {ECO:0000269|PubMed:12938098}.		brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|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)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.E1036K(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGATATTGAAGAACAATATCC	0.333			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		2	Substitution - Missense(2)		lung(2)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(3106-3108)GAA>AAA	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							46.0	49.0	48.0					13																	32911598		2201	4295	6496	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32911598G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3106G>A	13.37:g.32911598G>A	ENSP00000369497:p.Glu1036Lys	TCGA Ovarian(8;0.087)					p.E1036K	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	3333	+		Lung SC(185;0.0262)	1036		E -> K (in BC; unknown pathological significance).	BRCA2 1.		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.3106G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086805	0.76642	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.76448	-1.02;-1.02	5.74	5.74	0.90152	.	0.263076	0.33005	N	0.005382	T	0.81370	0.4808	L	0.32530	0.975	0.32695	N	0.513621	D	0.71674	0.998	D	0.66847	0.947	D	0.84593	0.0668	10	0.66056	D	0.02	.	13.9944	0.64388	0.0781:0.0:0.9219:0.0	.	1036	P51587	BRCA2_HUMAN	K	1036	ENSP00000369497:E1036K;ENSP00000439902:E1036K	ENSP00000369497:E1036K	E	+	1	0	BRCA2	31809598	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.428000	0.66489	2.881000	0.98747	0.650000	0.86243	GAA		PASS	0.333	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		17	30	17	30	---	---	---	---
POSTN	10631	broad.mit.edu	37	13	38143436	38143436	+	Splice_Site	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr13:38143436C>T	ENST00000379747.4	-	21	2549		c.e21+1		POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000541179.1_Intron|POSTN_ENST00000379749.4_Intron	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.?(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTTTACTAACCTCCCTGAAG	0.373																																						uc001uwo.3																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e21+1		periostin, osteoblast specific factor isoform 1							91.0	86.0	87.0					13																	38143436		2203	4300	6503	SO:0001630	splice_region_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38143436C>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2431+1G>A	13.37:g.38143436C>T						POSTN_uc010tet.1_Splice_Site_p.D312_splice|POSTN_uc001uwp.3_Splice_Site_p.D754_splice|POSTN_uc001uwr.2_Intron|POSTN_uc001uwq.2_Intron|POSTN_uc010teu.1_Splice_Site_p.D784_splice|POSTN_uc010tev.1_Splice_Site_p.D724_splice|POSTN_uc010tew.1_Intron	p.D811_splice	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	21	2549	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)						B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Splice_Site	SNP	ENST00000379747.4	37	c.2431_splice	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718475	0.68844	.	.	ENSG00000133110	ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6657	0.88202	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POSTN	37041436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.673000	0.68109	2.580000	0.87095	0.650000	0.86243	.		PASS	0.373	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	Intron	10	31	10	31	---	---	---	---
TRPC4	7223	broad.mit.edu	37	13	38237720	38237720	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr13:38237720T>C	ENST00000379705.3	-	6	2378	c.1521A>G	c.(1519-1521)atA>atG	p.I507M	TRPC4_ENST00000447043.1_Missense_Mutation_p.I507M|TRPC4_ENST00000379679.1_Missense_Mutation_p.I334M|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379673.2_Missense_Mutation_p.I507M|TRPC4_ENST00000358477.2_Missense_Mutation_p.I507M|TRPC4_ENST00000379681.3_Missense_Mutation_p.I507M|TRPC4_ENST00000338947.5_Missense_Mutation_p.I334M|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.I507M			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	507					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.I507M(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTCCCAGAGATATTTGCAGAG	0.408																																						uc001uws.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|breast(1)	6						c.(1519-1521)ATA>ATG		transient receptor potential cation channel,							89.0	88.0	88.0					13																	38237720		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38237720T>C	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1521A>G	13.37:g.38237720T>C	ENSP00000369027:p.Ile507Met					TRPC4_uc010abv.2_Missense_Mutation_p.I87M|TRPC4_uc001uwt.2_Missense_Mutation_p.I507M|TRPC4_uc010tey.1_Missense_Mutation_p.I507M|TRPC4_uc010abw.2_Missense_Mutation_p.I334M|TRPC4_uc010abx.2_Missense_Mutation_p.I507M|TRPC4_uc010aby.2_Missense_Mutation_p.I507M	p.I507M	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	6	1756	-			507			Cytoplasmic (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1521A>G	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508102	0.64410	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	6.08	-1.72	0.08107	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98969	0.9649	M	0.86420	2.815	0.80722	D	1	D;D;D;D;D;D	0.69078	0.995;0.995;0.997;0.997;0.99;0.975	P;D;D;D;D;D	0.80764	0.899;0.962;0.994;0.978;0.947;0.954	D	0.96858	0.9630	10	0.87932	D	0	-18.1067	22.1587	0.99967	0.0:0.0:0.7288:0.2711	.	507;507;507;334;507;507	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	M	507;507;334;334;507;507;507;507	ENSP00000369027:I507M;ENSP00000369003:I507M;ENSP00000342580:I334M;ENSP00000369001:I334M;ENSP00000348025:I507M;ENSP00000351264:I507M;ENSP00000368995:I507M;ENSP00000414316:I507M	ENSP00000342580:I334M	I	-	3	3	TRPC4	37135720	0.995000	0.38212	0.982000	0.44146	0.991000	0.79684	0.094000	0.15107	-0.410000	0.07542	-0.258000	0.10820	ATA		PASS	0.408	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		17	41	17	41	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39450500	39450500	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr13:39450500T>A	ENST00000280481.7	+	20	8741	c.8525T>A	c.(8524-8526)cTt>cAt	p.L2842H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2842					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L2842H(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACCTTTGACCTTGACATCCGA	0.438																																						uc001uwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(8524-8526)CTT>CAT		FRAS1-related extracellular matrix protein 2							122.0	101.0	108.0					13																	39450500		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39450500T>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8525T>A	13.37:g.39450500T>A	ENSP00000280481:p.Leu2842His						p.L2842H	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	20	8834	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2842			Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.8525T>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.447721	0.84101	.	.	ENSG00000150893	ENST00000280481	T	0.67171	-0.25	5.69	5.69	0.88448	.	0.200054	0.43919	D	0.000515	T	0.81635	0.4864	M	0.79475	2.455	0.54753	D	0.999988	D	0.89917	1.0	D	0.68621	0.959	D	0.84232	0.0467	10	0.87932	D	0	.	15.9477	0.79806	0.0:0.0:0.0:1.0	.	2842	Q5SZK8	FREM2_HUMAN	H	2842	ENSP00000280481:L2842H	ENSP00000280481:L2842H	L	+	2	0	FREM2	38348500	0.985000	0.35326	1.000000	0.80357	0.907000	0.53573	7.967000	0.87967	2.179000	0.69175	0.460000	0.39030	CTT		PASS	0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		12	47	12	47	---	---	---	---
OLFM4	10562	broad.mit.edu	37	13	53616220	53616220	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr13:53616220G>T	ENST00000219022.2	+	3	611	c.533G>T	c.(532-534)gGt>gTt	p.G178V		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	178					cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.G178V(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GAGAGTTTTGGTGGAAGCTCA	0.428																																						uc001vhl.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(532-534)GGT>GTT		olfactomedin 4 precursor							100.0	89.0	93.0					13																	53616220		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53616220G>T	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.533G>T	13.37:g.53616220G>T	ENSP00000219022:p.Gly178Val					OLFM4_uc001vhk.1_Intron	p.G178V	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	3	533	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	178			Potential.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.533G>T	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	8.770	0.925788	0.18056	.	.	ENSG00000102837	ENST00000219022	D	0.89746	-2.56	5.71	-2.19	0.07015	.	0.822085	0.11173	N	0.591786	T	0.59715	0.2214	N	0.00823	-1.155	0.24027	N	0.996128	B	0.02656	0.0	B	0.04013	0.001	T	0.57254	-0.7843	9	.	.	.	.	1.0089	0.01493	0.224:0.2131:0.1101:0.4529	.	178	Q6UX06	OLFM4_HUMAN	V	178	ENSP00000219022:G178V	.	G	+	2	0	OLFM4	52514221	0.055000	0.20627	0.772000	0.31596	0.809000	0.45718	-0.005000	0.12855	-0.115000	0.11915	-0.262000	0.10625	GGT		PASS	0.428	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		8	26	8	26	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58207244	58207244	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr13:58207244C>A	ENST00000377918.3	+	1	590	c.564C>A	c.(562-564)gaC>gaA	p.D188E		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	188	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D188E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCCGCGGCGACGGCACCAAGT	0.642																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(562-564)GAC>GAA		protocadherin 17 precursor							31.0	33.0	32.0					13																	58207244		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207244C>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.564C>A	13.37:g.58207244C>A	ENSP00000367151:p.Asp188Glu					PCDH17_uc010aec.1_Missense_Mutation_p.D188E	p.D188E	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1456	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	188			Extracellular (Potential).|Cadherin 2.|Cell attachment site (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.564C>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726492	0.48833	.	.	ENSG00000118946	ENST00000377918	T	0.54071	0.59	4.8	2.91	0.33838	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	H	0.96365	3.81	0.46631	D	0.999139	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78802	-0.2061	9	.	.	.	.	6.7207	0.23328	0.0:0.6586:0.0:0.3414	.	188;188	O14917-2;O14917	.;PCD17_HUMAN	E	188	ENSP00000367151:D188E	.	D	+	3	2	PCDH17	57105245	0.885000	0.30320	1.000000	0.80357	0.996000	0.88848	0.431000	0.21444	1.264000	0.44198	0.650000	0.86243	GAC		PASS	0.642	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		4	16	4	16	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58207599	58207599	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr13:58207599G>T	ENST00000377918.3	+	1	945	c.919G>T	c.(919-921)Ggc>Tgc	p.G307C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	307	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G307C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCGTGTGAAGGGCAATCTGGA	0.577																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(919-921)GGC>TGC		protocadherin 17 precursor							63.0	61.0	62.0					13																	58207599		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207599G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.919G>T	13.37:g.58207599G>T	ENSP00000367151:p.Gly307Cys					PCDH17_uc010aec.1_Missense_Mutation_p.G307C	p.G307C	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1811	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	307			Extracellular (Potential).|Cadherin 3.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.919G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835280	0.71373	.	.	ENSG00000118946	ENST00000377918	T	0.53206	0.63	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.044369	0.85682	D	0.000000	T	0.76097	0.3940	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.80070	-0.1536	9	.	.	.	.	19.5413	0.95275	0.0:0.0:1.0:0.0	.	307;307	O14917-2;O14917	.;PCD17_HUMAN	C	307	ENSP00000367151:G307C	.	G	+	1	0	PCDH17	57105600	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.932000	0.87634	2.640000	0.89533	0.650000	0.86243	GGC		PASS	0.577	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		11	27	11	27	---	---	---	---
PCDH20	64881	broad.mit.edu	37	13	61986403	61986403	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr13:61986403C>A	ENST00000409186.1	-	5	3934	c.1829G>T	c.(1828-1830)aGa>aTa	p.R610I	PCDH20_ENST00000409204.4_Missense_Mutation_p.R610I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	610	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R583I(1)|p.R610I(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTCAACAGCTCTGACAGTGTA	0.453																																						uc001vid.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(1828-1830)AGA>ATA		protocadherin 20							142.0	132.0	136.0					13																	61986403		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986403C>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1829G>T	13.37:g.61986403C>A	ENSP00000386653:p.Arg610Ile					PCDH20_uc010thj.1_Missense_Mutation_p.R610I	p.R610I	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	2193	-		Breast(118;0.195)|Prostate(109;0.229)	583			Extracellular (Potential).|Cadherin 4.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1829G>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	5.051	0.195000	0.09599	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.01685	4.69;4.69	5.94	3.91	0.45181	.	0.178977	0.39146	N	0.001448	T	0.01124	0.0037	N	0.11000	0.08	0.58432	D	0.999998	B	0.27316	0.175	B	0.27608	0.081	T	0.62969	-0.6741	10	0.23302	T	0.38	.	6.5961	0.22674	0.0:0.6498:0.0:0.3502	.	610	A8K1K9	.	I	610;610;356	ENSP00000387250:R610I;ENSP00000386653:R610I	ENSP00000351500:R356I	R	-	2	0	PCDH20	60884404	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	2.447000	0.44917	1.520000	0.48965	0.557000	0.71058	AGA		PASS	0.453	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		33	66	33	66	---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	67801278	67801278	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr13:67801278G>T	ENST00000377865.2	-	1	1429	c.1295C>A	c.(1294-1296)aCc>aAc	p.T432N	PCDH9_ENST00000377861.3_Missense_Mutation_p.T432N|PCDH9_ENST00000456367.1_Missense_Mutation_p.T432N|PCDH9_ENST00000328454.5_Missense_Mutation_p.T432N|PCDH9_ENST00000544246.1_Missense_Mutation_p.T432N			Q9HC56	PCDH9_HUMAN	protocadherin 9	432	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T432N(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GAATTCTTTGGTGCCCTCATA	0.403																																						uc001vik.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(1294-1296)ACC>AAC		protocadherin 9 isoform 1 precursor							58.0	61.0	60.0					13																	67801278		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801278G>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1295C>A	13.37:g.67801278G>T	ENSP00000367096:p.Thr432Asn					PCDH9_uc001vil.2_Missense_Mutation_p.T432N|PCDH9_uc010thl.1_Missense_Mutation_p.T432N|PCDH9_uc001vin.3_Missense_Mutation_p.T432N	p.T432N	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1987	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	432			Extracellular (Potential).|Cadherin 4.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1295C>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595517	0.46318	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.044543	0.85682	D	0.000000	T	0.60894	0.2304	L	0.43646	1.37	0.58432	D	0.99999	P;D;P;D	0.89917	0.943;1.0;0.933;0.984	P;D;P;D	0.81914	0.697;0.995;0.84;0.938	T	0.60816	-0.7188	10	0.72032	D	0.01	.	13.8098	0.63256	0.0695:0.0:0.9305:0.0	.	432;432;432;432	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	N	432	ENSP00000442186:T432N;ENSP00000367096:T432N;ENSP00000401699:T432N;ENSP00000332060:T432N;ENSP00000367092:T432N	ENSP00000332060:T432N	T	-	2	0	PCDH9	66699279	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.683000	0.74533	2.894000	0.99253	0.655000	0.94253	ACC		PASS	0.403	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		18	36	18	36	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77657256	77657256	+	Silent	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr13:77657256T>C	ENST00000544440.2	-	63	10850	c.10833A>G	c.(10831-10833)ttA>ttG	p.L3611L	MYCBP2_ENST00000357337.6_Silent_p.L3611L|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000407578.2_Silent_p.L3649L|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS2_ENST00000428716.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000450627.2_RNA					MYC binding protein 2, E3 ubiquitin protein ligase									p.L3649L(1)|p.L3611L(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGGTGTGTGGTAAAGGATGAG	0.458																																						uc001vkf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(10831-10833)TTA>TTG		MYC binding protein 2							217.0	193.0	201.0					13																	77657256		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77657256T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.10833A>G	13.37:g.77657256T>C						MYCBP2_uc010aev.2_Silent_p.L3015L|MYCBP2_uc001vke.2_Silent_p.L231L	p.L3611L	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	64	10924	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3611						Silent	SNP	ENST00000544440.2	37	c.10833A>G		.	.	.	.	.	.	.	.	.	.	T	8.394	0.840379	0.16891	.	.	ENSG00000005810	ENST00000429715	.	.	.	5.39	-4.93	0.03066	.	.	.	.	.	T	0.64238	0.2580	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66081	-0.6012	4	.	.	.	.	15.9227	0.79589	0.0:0.6314:0.0:0.3686	.	.	.	.	A	35	.	.	T	-	1	0	MYCBP2	76555257	0.810000	0.29049	0.785000	0.31869	0.762000	0.43233	-0.150000	0.10189	-0.669000	0.05289	-0.417000	0.06048	ACC		PASS	0.458	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		32	70	32	70	---	---	---	---
POU4F1	5457	broad.mit.edu	37	13	79175664	79175664	+	Silent	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr13:79175664G>T	ENST00000377208.5	-	2	1357	c.1146C>A	c.(1144-1146)tcC>tcA	p.S382S	RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000444769.3_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	382					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.S382S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		CGATCTTCTCGGACGAGGGCC	0.607																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	uc001vkv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1144-1146)TCC>TCA		POU domain, class 4, transcription factor 1							63.0	67.0	65.0					13																	79175664		2203	4300	6503	SO:0001819	synonymous_variant	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79175664G>T	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.1146C>A	13.37:g.79175664G>T						uc001vku.1_Intron	p.S382S	NM_006237	NP_006228	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	1380	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	382			Homeobox.		Q14986|Q15318|Q5T227	Silent	SNP	ENST00000377208.5	37	c.1146C>A	CCDS31996.1																																																																																				PASS	0.607	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			26	53	26	53	---	---	---	---
HS6ST3	266722	broad.mit.edu	37	13	96743641	96743641	+	Silent	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr13:96743641T>C	ENST00000376705.2	+	1	549	c.525T>C	c.(523-525)tgT>tgC	p.C175C		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	175					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)	p.C175C(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AGCAGCCTTGTAGCTGCAAAG	0.632																																						uc001vmw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(523-525)TGT>TGC		heparan sulfate 6-O-sulfotransferase 3							31.0	31.0	31.0					13																	96743641		2203	4300	6503	SO:0001819	synonymous_variant	266722					integral to membrane	sulfotransferase activity	g.chr13:96743641T>C	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.525T>C	13.37:g.96743641T>C							p.C175C	NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN			1	549	+	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		175			Lumenal (Potential).		Q5W0L0|Q68CW6	Silent	SNP	ENST00000376705.2	37	c.525T>C	CCDS9481.1																																																																																				PASS	0.632	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		9	14	9	14	---	---	---	---
ZIC2	7546	broad.mit.edu	37	13	100635301	100635301	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr13:100635301C>T	ENST00000376335.3	+	1	1276	c.983C>T	c.(982-984)aCa>aTa	p.T328I		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	328					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T328I(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGCGTGCACACAGGCGAGAAA	0.607																																					Pancreas(97;119 1522 31925 44771 48764)	uc001von.2																			1	Substitution - Missense(1)		lung(1)		0						c.(982-984)ACA>ATA		zinc finger protein of the cerebellum 2							107.0	114.0	112.0					13																	100635301		2203	4300	6503	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635301C>T	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.983C>T	13.37:g.100635301C>T	ENSP00000365514:p.Thr328Ile						p.T328I	NM_007129	NP_009060	O95409	ZIC2_HUMAN			1	983	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		328					Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.983C>T	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580399	0.86645	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	D	0.91351	-2.83	4.69	4.69	0.59074	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.117725	0.56097	D	0.000032	D	0.94794	0.8319	M	0.71206	2.165	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.95242	0.8352	10	0.87932	D	0	.	18.1567	0.89693	0.0:1.0:0.0:0.0	.	328	O95409	ZIC2_HUMAN	I	328;77	ENSP00000365514:T328I	ENSP00000365514:T328I	T	+	2	0	ZIC2	99433302	1.000000	0.71417	0.967000	0.41034	0.998000	0.95712	7.609000	0.82925	2.610000	0.88304	0.561000	0.74099	ACA		PASS	0.607	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		32	77	32	77	---	---	---	---
IRS2	8660	broad.mit.edu	37	13	110437489	110437489	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr13:110437489A>T	ENST00000375856.3	-	1	1426	c.912T>A	c.(910-912)agT>agA	p.S304R		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	304					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.S304R(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			ATTGGCTCTTACTGCGCGGCC	0.692																																					Melanoma(100;613 2409 40847)	uc001vqv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8						c.(910-912)AGT>AGA		insulin receptor substrate 2							12.0	13.0	12.0					13																	110437489		2190	4291	6481	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110437489A>T	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.912T>A	13.37:g.110437489A>T	ENSP00000365016:p.Ser304Arg						p.S304R	NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	1426	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	304					Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.912T>A	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351692	0.41700	.	.	ENSG00000185950	ENST00000375856	T	0.56776	0.44	3.45	1.7	0.24286	.	0.000000	0.85682	U	0.000000	T	0.62417	0.2426	L	0.57536	1.79	0.42447	D	0.992734	D	0.71674	0.998	D	0.80764	0.994	T	0.57476	-0.7805	10	0.38643	T	0.18	-13.7095	8.2053	0.31452	0.2066:0.0:0.7934:0.0	.	304	Q9Y4H2	IRS2_HUMAN	R	304	ENSP00000365016:S304R	ENSP00000365016:S304R	S	-	3	2	IRS2	109235490	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	1.614000	0.36911	0.203000	0.20529	-1.303000	0.01326	AGT		PASS	0.692	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		5	8	5	8	---	---	---	---
PROZ	8858	broad.mit.edu	37	13	113826358	113826358	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr13:113826358A>T	ENST00000375547.2	+	8	1149	c.1142A>T	c.(1141-1143)cAc>cTc	p.H381L	PROZ_ENST00000342783.4_Missense_Mutation_p.H403L	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	381	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.H381L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	GGGCAGGCTCACATGGTCCTT	0.532																																						uc001vta.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1141-1143)CAC>CTC		protein Z, vitamin K-dependent plasma	Menadione(DB00170)						35.0	30.0	32.0					13																	113826358		2199	4292	6491	SO:0001583	missense	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113826358A>T	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.1142A>T	13.37:g.113826358A>T	ENSP00000364697:p.His381Leu					PROZ_uc010agr.1_Missense_Mutation_p.H403L	p.H381L	NM_003891	NP_003882	P22891	PROZ_HUMAN	all cancers(43;0.104)		8	1149	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	381			Peptidase S1.		A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	c.1142A>T	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	A	8.465	0.856103	0.17106	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.88124	-2.34;-2.34	3.45	-6.89	0.01660	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.451660	0.03966	N	0.290778	T	0.78368	0.4272	L	0.36672	1.1	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.09377	0.004;0.001	T	0.64689	-0.6348	10	0.87932	D	0	.	5.8387	0.18621	0.5245:0.236:0.2395:0.0	.	403;381	P22891-2;P22891	.;PROZ_HUMAN	L	381;403	ENSP00000364697:H381L;ENSP00000344458:H403L	ENSP00000344458:H403L	H	+	2	0	PROZ	112874359	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.460000	0.21924	-1.010000	0.03396	-1.983000	0.00453	CAC		PASS	0.532	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		9	23	9	23	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612101	20612101	+	Silent	SNP	G	G	T	rs111858769		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:20612101G>T	ENST00000333629.1	+	1	207	c.207G>T	c.(205-207)ctG>ctT	p.L69L	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L69L(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGCCTTACTGGATGCATCCT	0.468																																						uc010tla.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(205-207)CTG>CTT		olfactory receptor, family 4, subfamily N,							180.0	183.0	182.0					14																	20612101		2203	4300	6503	SO:0001819	synonymous_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612101G>T		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.207G>T	14.37:g.20612101G>T							p.L69L	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	207	+	all_cancers(95;0.00108)		69			Helical; Name=2; (Potential).		Q6IF11	Silent	SNP	ENST00000333629.1	37	c.207G>T	CCDS32031.1																																																																																				PASS	0.468	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			87	234	87	234	---	---	---	---
RNASE10	338879	broad.mit.edu	37	14	20978871	20978871	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:20978871C>A	ENST00000328444.5	+	1	260	c.241C>A	c.(241-243)Cca>Aca	p.P81T	RNASE10_ENST00000430083.1_Missense_Mutation_p.P109T	NM_001012975.1	NP_001012993.1	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	81					epithelial cell morphogenesis (GO:0003382)|heterotypic cell-cell adhesion (GO:0034113)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of sperm motility (GO:1902093)|regulation of fertilization (GO:0080154)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.P81T(1)		endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		ACCTGGCTGGCCAGAAGATCC	0.527																																						uc010tlj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(241-243)CCA>ACA		ribonuclease, RNase A family, 10 (non-active)							66.0	65.0	65.0					14																	20978871		2203	4300	6503	SO:0001583	missense	338879					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:20978871C>A		CCDS32035.1	14q11.1	2004-11-16				ENSG00000182545		"""Ribonucleases, RNase A"""	19275	protein-coding gene	gene with protein product						12920233	Standard	XM_005267584		Approved	RNASE9	uc010tlj.2	Q5GAN6		ENST00000328444.5:c.241C>A	14.37:g.20978871C>A	ENSP00000333358:p.Pro81Thr					RNASE10_uc001vxp.2_Missense_Mutation_p.P109T	p.P81T	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)	1	241	+	all_cancers(95;0.00123)		81					A2RUQ3|B4DKY4	Missense_Mutation	SNP	ENST00000328444.5	37	c.241C>A	CCDS32035.1	.	.	.	.	.	.	.	.	.	.	C	3.695	-0.062660	0.07273	.	.	ENSG00000182545	ENST00000430083;ENST00000328444	T;T	0.17854	2.25;2.28	4.14	1.27	0.21489	.	0.480059	0.19717	N	0.107675	T	0.08582	0.0213	N	0.24115	0.695	0.09310	N	0.999999	B;P	0.39809	0.437;0.689	B;B	0.32864	0.154;0.154	T	0.21211	-1.0252	10	0.51188	T	0.08	-14.4495	6.4204	0.21740	0.0:0.6848:0.0:0.3152	.	81;109	Q5GAN6;B4DKY4	RNS10_HUMAN;.	T	109;81	ENSP00000392996:P109T;ENSP00000333358:P81T	ENSP00000333358:P81T	P	+	1	0	RNASE10	20048711	0.005000	0.15991	0.055000	0.19348	0.060000	0.15804	-0.075000	0.11431	0.279000	0.22186	-0.150000	0.13652	CCA		PASS	0.527	RNASE10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411088.1	XM_292225		6	35	6	35	---	---	---	---
RNASE10	338879	broad.mit.edu	37	14	20978873	20978873	+	Silent	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:20978873A>G	ENST00000328444.5	+	1	262	c.243A>G	c.(241-243)ccA>ccG	p.P81P	RNASE10_ENST00000430083.1_Silent_p.P109P	NM_001012975.1	NP_001012993.1	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	81					epithelial cell morphogenesis (GO:0003382)|heterotypic cell-cell adhesion (GO:0034113)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of sperm motility (GO:1902093)|regulation of fertilization (GO:0080154)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.P81P(1)		endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CTGGCTGGCCAGAAGATCCCA	0.527																																						uc010tlj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(241-243)CCA>CCG		ribonuclease, RNase A family, 10 (non-active)							66.0	65.0	65.0					14																	20978873		2203	4300	6503	SO:0001819	synonymous_variant	338879					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:20978873A>G		CCDS32035.1	14q11.1	2004-11-16				ENSG00000182545		"""Ribonucleases, RNase A"""	19275	protein-coding gene	gene with protein product						12920233	Standard	XM_005267584		Approved	RNASE9	uc010tlj.2	Q5GAN6		ENST00000328444.5:c.243A>G	14.37:g.20978873A>G						RNASE10_uc001vxp.2_Silent_p.P109P	p.P81P	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)	1	243	+	all_cancers(95;0.00123)		81					A2RUQ3|B4DKY4	Silent	SNP	ENST00000328444.5	37	c.243A>G	CCDS32035.1																																																																																				PASS	0.527	RNASE10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411088.1	XM_292225		6	35	6	35	---	---	---	---
OR5AU1	390445	broad.mit.edu	37	14	21623325	21623325	+	Missense_Mutation	SNP	T	T	A	rs141477326		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:21623325T>A	ENST00000304418.3	-	1	897	c.860A>T	c.(859-861)aAg>aTg	p.K287M		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K287M(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GGAAAATGCCTTAAACCTGCC	0.507																																						uc010tlp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(859-861)AAG>ATG		olfactory receptor, family 5, subfamily AU,							166.0	134.0	145.0					14																	21623325		2203	4300	6503	SO:0001583	missense	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21623325T>A	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.860A>T	14.37:g.21623325T>A	ENSP00000302057:p.Lys287Met						p.K287M	NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	1	860	-	all_cancers(95;0.00238)		287			Cytoplasmic (Potential).		B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	ENST00000304418.3	37	c.860A>T	CCDS32042.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.763577	0.69878	.	.	ENSG00000169327	ENST00000304418	T	0.00377	7.69	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01976	0.0062	H	0.98802	4.335	0.52099	D	0.999943	D	0.89917	1.0	D	0.91635	0.999	T	0.01283	-1.1396	9	0.87932	D	0	.	11.7898	0.52063	0.0:0.0:0.0:1.0	.	287	Q8NGC0	O5AU1_HUMAN	M	287	ENSP00000302057:K287M	ENSP00000302057:K287M	K	-	2	0	OR5AU1	20693165	1.000000	0.71417	0.995000	0.50966	0.959000	0.62525	4.247000	0.58750	1.884000	0.54569	0.402000	0.26972	AAG		PASS	0.507	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			17	42	17	42	---	---	---	---
JPH4	84502	broad.mit.edu	37	14	24040570	24040570	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:24040570G>C	ENST00000397118.3	-	6	2272	c.1370C>G	c.(1369-1371)tCc>tGc	p.S457C	JPH4_ENST00000356300.4_Missense_Mutation_p.S457C|JPH4_ENST00000544177.1_Missense_Mutation_p.S122C	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	457					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)		p.S457C(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CAGTTCAGGGGATCCCTCTGA	0.677																																						uc001wkq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1369-1371)TCC>TGC		junctophilin 4							42.0	44.0	43.0					14																	24040570		2203	4300	6503	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040570G>C	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1370C>G	14.37:g.24040570G>C	ENSP00000380307:p.Ser457Cys					JPH4_uc010tnr.1_Missense_Mutation_p.S122C|JPH4_uc001wkr.2_Missense_Mutation_p.S457C	p.S457C	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2288	-	all_cancers(95;0.000251)		457			Cytoplasmic (Potential).		D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.1370C>G	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838393	0.71373	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.59083	0.29;0.29;0.67	5.17	5.17	0.71159	.	0.334816	0.16803	U	0.198889	T	0.57504	0.2058	N	0.14661	0.345	0.33023	D	0.529136	D;P	0.71674	0.998;0.94	P;B	0.59889	0.865;0.431	T	0.68062	-0.5508	10	0.72032	D	0.01	.	14.5198	0.67842	0.0:0.0:1.0:0.0	.	122;457	F5H1L9;Q96JJ6	.;JPH4_HUMAN	C	457;457;457;458;122	ENSP00000348648:S457C;ENSP00000380307:S457C;ENSP00000439562:S122C	ENSP00000267407:S458C	S	-	2	0	JPH4	23110410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.573000	0.53856	2.575000	0.86900	0.655000	0.94253	TCC		PASS	0.677	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		9	43	9	43	---	---	---	---
NPAS3	64067	broad.mit.edu	37	14	33684439	33684439	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:33684439G>A	ENST00000356141.4	+	3	192	c.192G>A	c.(190-192)cgG>cgA	p.R64R	NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000357798.5_Silent_p.R34R|NPAS3_ENST00000551492.1_Silent_p.R71R|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000341321.4_Silent_p.R64R|NPAS3_ENST00000346562.2_Silent_p.R34R|NPAS3_ENST00000548645.1_Silent_p.R34R			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	64	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.R34R(2)|p.R64R(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCTCCCGCCGGGGAAAAGAAA	0.458																																						uc001wru.2																			3	Substitution - coding silent(3)		lung(3)	ovary(1)|skin(1)	2						c.(190-192)CGG>CGA		neuronal PAS domain protein 3 isoform 3							68.0	73.0	72.0					14																	33684439		2203	4300	6503	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:33684439G>A	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.192G>A	14.37:g.33684439G>A						NPAS3_uc001wrs.2_Silent_p.R34R|NPAS3_uc001wrt.2_Silent_p.R34R|NPAS3_uc001wrv.2_Silent_p.R34R|NPAS3_uc001wrw.2_5'UTR	p.R64R	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	3	256	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		64			Basic motif.		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.192G>A	CCDS53891.1																																																																																				PASS	0.458	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			63	51	63	51	---	---	---	---
KLHDC1	122773	broad.mit.edu	37	14	50177095	50177095	+	Missense_Mutation	SNP	G	G	C	rs201623858	byFrequency	TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:50177095G>C	ENST00000359332.2	+	4	490	c.400G>C	c.(400-402)Gac>Cac	p.D134H	RP11-831F12.2_ENST00000557160.1_RNA	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	134						cytoplasm (GO:0005737)		p.D134H(1)		kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GGTATATAAAGACAGGTAATG	0.378																																						uc001www.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(400-402)GAC>CAC		kelch domain containing 1							116.0	109.0	112.0					14																	50177095		2203	4300	6503	SO:0001583	missense	122773					cytoplasm		g.chr14:50177095G>C	AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.400G>C	14.37:g.50177095G>C	ENSP00000352282:p.Asp134His					SDCCAG1_uc010anj.1_Intron|KLHDC1_uc010tqg.1_Missense_Mutation_p.D89H|KLHDC1_uc010tqh.1_Missense_Mutation_p.D77H	p.D134H	NM_172193	NP_751943	Q8N7A1	KLDC1_HUMAN			4	428	+	all_epithelial(31;0.00244)|Breast(41;0.00964)		134			Kelch 2.		B3KXD9|Q8WYI1	Missense_Mutation	SNP	ENST00000359332.2	37	c.400G>C	CCDS9692.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712702	0.68730	.	.	ENSG00000197776	ENST00000359332	T	0.69175	-0.38	5.26	5.26	0.73747	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.252829	0.45126	D	0.000393	T	0.76350	0.3975	L	0.55990	1.75	0.49483	D	0.999796	D	0.89917	1.0	D	0.65573	0.936	T	0.76315	-0.3004	10	0.49607	T	0.09	-12.0972	14.4717	0.67521	0.0731:0.0:0.9269:0.0	.	134	Q8N7A1	KLDC1_HUMAN	H	134	ENSP00000352282:D134H	ENSP00000352282:D134H	D	+	1	0	KLHDC1	49246845	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.919000	0.63383	2.616000	0.88540	0.591000	0.81541	GAC		PASS	0.378	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276882.2	NM_172193		50	47	50	47	---	---	---	---
GPR137C	283554	broad.mit.edu	37	14	53066842	53066842	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:53066842A>G	ENST00000321662.6	+	3	500	c.500A>G	c.(499-501)cAt>cGt	p.H167R		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	167						integral component of membrane (GO:0016021)		p.H167R(1)		NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					ATTCTACTGCATTTGGGCTTT	0.338																																						uc001wzu.3																			1	Substitution - Missense(1)		lung(1)		0						c.(499-501)CAT>CGT		G protein-coupled receptor 137C							158.0	136.0	143.0					14																	53066842		1826	4088	5914	SO:0001583	missense	283554					integral to membrane		g.chr14:53066842A>G	BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.500A>G	14.37:g.53066842A>G	ENSP00000315106:p.His167Arg					GPR137C_uc001wzt.3_Missense_Mutation_p.H167R	p.H167R	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN			3	500	+	Breast(41;0.0716)		167			Cytoplasmic (Potential).		Q86SM2	Missense_Mutation	SNP	ENST00000321662.6	37	c.500A>G	CCDS45106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.508|0.508	-0.867606|-0.867606	0.02590|0.02590	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000321662|ENST00000555622	T|.	0.37752|.	1.18|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.108951|.	0.64402|.	D|.	0.000008|.	T|T	0.30823|0.30823	0.0777|0.0777	N|N	0.10874|0.10874	0.06|0.06	0.32835|0.32835	D|D	0.5046|0.5046	B|.	0.14012|.	0.009|.	B|.	0.15484|.	0.013|.	T|T	0.42172|0.42172	-0.9467|-0.9467	10|5	0.15066|.	T|.	0.55|.	-6.7656|-6.7656	10.1298|10.1298	0.42672|0.42672	0.9247:0.0:0.0752:0.0|0.9247:0.0:0.0752:0.0	.|.	167|.	Q8N3F9|.	G137C_HUMAN|.	R|V	167|99	ENSP00000315106:H167R|.	ENSP00000315106:H167R|.	H|I	+|+	2|1	0|0	GPR137C|GPR137C	52136592|52136592	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.889000|0.889000	0.51656|0.51656	3.346000|3.346000	0.52190|0.52190	2.164000|2.164000	0.68074|0.68074	0.477000|0.477000	0.44152|0.44152	CAT|ATT		PASS	0.338	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411685.1	XM_290615		79	74	79	74	---	---	---	---
C14orf105	55195	broad.mit.edu	37	14	57948311	57948311	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:57948311A>G	ENST00000216445.3	-	4	597	c.461T>C	c.(460-462)aTg>aCg	p.M154T	C14orf105_ENST00000534126.1_Missense_Mutation_p.M153T|C14orf105_ENST00000422976.2_Missense_Mutation_p.M153T	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	154								p.M154T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CAGCACTTGCATCTTATGCAA	0.368																																						uc001xcy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)ATG>ACG		hypothetical protein LOC55195							204.0	179.0	187.0					14																	57948311		2202	4298	6500	SO:0001583	missense	55195							g.chr14:57948311A>G	AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.461T>C	14.37:g.57948311A>G	ENSP00000216445:p.Met154Thr					C14orf105_uc010trl.1_Missense_Mutation_p.M153T|C14orf105_uc010trm.1_Missense_Mutation_p.M65T|C14orf105_uc010trn.1_Missense_Mutation_p.M65T|C14orf105_uc001xcz.2_Missense_Mutation_p.M153T|C14orf105_uc010aox.1_RNA|C14orf105_uc010aoy.1_Missense_Mutation_p.M75T	p.M154T	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN			4	604	-			154					Q53G04	Missense_Mutation	SNP	ENST00000216445.3	37	c.461T>C	CCDS9730.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.352467	0.41700	.	.	ENSG00000100557	ENST00000216445;ENST00000422976;ENST00000534126	T;T;T	0.55413	0.52;0.52;0.52	5.09	5.09	0.68999	.	0.071470	0.64402	D	0.000016	T	0.69142	0.3078	M	0.72894	2.215	0.80722	D	1	P;P;D;D;D	0.76494	0.879;0.879;0.999;0.999;0.999	P;P;D;D;D	0.80764	0.503;0.503;0.994;0.994;0.994	T	0.72090	-0.4395	10	0.62326	D	0.03	-8.333	11.3018	0.49311	1.0:0.0:0.0:0.0	.	153;153;153;153;154	B7ZL43;F5GWJ3;Q17R99;E9PSE9;Q9NVL8	.;.;.;.;CN105_HUMAN	T	154;153;153	ENSP00000216445:M154T;ENSP00000392368:M153T;ENSP00000434003:M153T	ENSP00000216445:M154T	M	-	2	0	C14orf105	57018064	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.018000	0.64054	1.940000	0.56252	0.529000	0.55759	ATG		PASS	0.368	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168		22	82	22	82	---	---	---	---
SYT16	83851	broad.mit.edu	37	14	62536405	62536405	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:62536405C>G	ENST00000430451.2	+	2	805	c.608C>G	c.(607-609)tCc>tGc	p.S203C	SYT16_ENST00000446982.2_Missense_Mutation_p.S203C|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	203					exocytosis (GO:0006887)			p.S203C(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATTTCCGTGTCCCGGTCCCAG	0.478																																						uc001xfu.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(607-609)TCC>TGC		synaptotagmin XIV-like							166.0	157.0	160.0					14																	62536405		1931	4126	6057	SO:0001583	missense	83851							g.chr14:62536405C>G	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.608C>G	14.37:g.62536405C>G	ENSP00000394700:p.Ser203Cys					SYT16_uc010tsd.1_Missense_Mutation_p.S203C	p.S203C	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	2	805	+			203					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.608C>G	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565549	0.86439	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.57273	0.41;2.87	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000001	T	0.71443	0.3340	M	0.66939	2.045	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.76071	0.983;0.987	T	0.74671	-0.3587	10	0.87932	D	0	-13.3842	18.0026	0.89202	0.0:1.0:0.0:0.0	.	203;203	B4DZH2;Q17RD7	.;SYT16_HUMAN	C	203	ENSP00000388023:S203C;ENSP00000394700:S203C	ENSP00000394700:S203C	S	+	2	0	SYT16	61606158	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	3.681000	0.54648	2.648000	0.89879	0.655000	0.94253	TCC		PASS	0.478	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		65	103	65	103	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64568746	64568746	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:64568746G>T	ENST00000344113.4	+	64	12690	c.12478G>T	c.(12478-12480)Gga>Tga	p.G4160*	SYNE2_ENST00000555002.1_Nonsense_Mutation_p.G794*|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.G4160*|SYNE2_ENST00000394768.2_Nonsense_Mutation_p.G545*|SYNE2_ENST00000357395.3_Nonsense_Mutation_p.G545*|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.G4175*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4160					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.G4160*(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTCATCCTCTGGAACAATTGT	0.517																																						uc001xgm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(12478-12480)GGA>TGA		spectrin repeat containing, nuclear envelope 2							99.0	82.0	88.0					14																	64568746		2203	4300	6503	SO:0001587	stop_gained	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64568746G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12478G>T	14.37:g.64568746G>T	ENSP00000341781:p.Gly4160*					SYNE2_uc001xgl.2_Nonsense_Mutation_p.G4160*|SYNE2_uc010apy.2_Nonsense_Mutation_p.G545*|SYNE2_uc010apz.1_Nonsense_Mutation_p.G52*	p.G4160*	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	64	12708	+			4160			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	c.12478G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	53	20.617049	0.99932	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553308	.	.	.	4.62	3.72	0.42706	.	0.137160	0.32884	N	0.005525	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	10.4042	0.44248	0.0944:0.0:0.9056:0.0	.	.	.	.	X	4160;545;4160;4175;4175;794;545;52	.	ENSP00000261678:G4175X	G	+	1	0	SYNE2	63638499	0.997000	0.39634	0.871000	0.34182	0.713000	0.41058	2.126000	0.42026	1.049000	0.40321	0.462000	0.41574	GGA		PASS	0.517	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		10	47	10	47	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64676782	64676782	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:64676782G>T	ENST00000344113.4	+	103	18875	c.18663G>T	c.(18661-18663)gaG>gaT	p.E6221D	SYNE2_ENST00000555002.1_Missense_Mutation_p.E2855D|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6221D|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2606D|SYNE2_ENST00000555022.1_Missense_Mutation_p.E99D|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2606D|SYNE2_ENST00000554805.1_Missense_Mutation_p.E4D|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6180D	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6221					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.E6221D(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGTCCACGAGGGCAACCAGC	0.637																																						uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(18661-18663)GAG>GAT		spectrin repeat containing, nuclear envelope 2							46.0	44.0	45.0					14																	64676782		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64676782G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18663G>T	14.37:g.64676782G>T	ENSP00000341781:p.Glu6221Asp					SYNE2_uc001xgl.2_Missense_Mutation_p.E6221D|SYNE2_uc010apy.2_Missense_Mutation_p.E2606D|SYNE2_uc001xgn.2_Missense_Mutation_p.E1183D|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.E191D|SYNE2_uc001xgq.2_Missense_Mutation_p.E586D|SYNE2_uc001xgr.2_Missense_Mutation_p.E4D	p.E6221D	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	103	18893	+			6221			Spectrin 7.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.18663G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872136	0.33069	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805	T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;1.28;0.64;0.64;0.64;1.28	5.63	3.44	0.39384	.	0.000000	0.47852	D	0.000204	T	0.33440	0.0863	N	0.12746	0.255	0.80722	D	1	B;B;B;B;B	0.30563	0.028;0.005;0.285;0.006;0.187	B;B;B;B;B	0.35470	0.047;0.052;0.203;0.063;0.136	T	0.23013	-1.0200	10	0.56958	D	0.05	.	13.4019	0.60887	0.2543:0.0:0.7457:0.0	.	2606;609;6180;6221;6221	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	D	6221;2606;6221;6180;6186;2855;2606;99;4	ENSP00000350719:E6221D;ENSP00000349969:E2606D;ENSP00000341781:E6221D;ENSP00000452570:E6180D;ENSP00000450831:E2855D;ENSP00000378249:E2606D;ENSP00000451009:E99D;ENSP00000450605:E4D	ENSP00000261678:E6186D	E	+	3	2	SYNE2	63746535	0.992000	0.36948	1.000000	0.80357	0.937000	0.57800	0.182000	0.16900	0.741000	0.32674	-0.921000	0.02739	GAG		PASS	0.637	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		26	36	26	36	---	---	---	---
HEATR4	399671	broad.mit.edu	37	14	73958889	73958889	+	Intron	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:73958889G>T	ENST00000553558.1	-	17	3166				HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000334988.2_Intron|C14orf169_ENST00000531973.1_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GCTGCAGACCGTGCTGGAACC	0.577																																						uc001xok.1																			0					0						c.(1168-1170)GTG>TTG		chromosome 14 open reading frame 169							101.0	104.0	103.0					14																	73958889		2020	4188	6208	SO:0001627	intron_variant	79697				negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:73958889G>T	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2844+880C>A	14.37:g.73958889G>T						HEATR4_uc010tua.1_Intron	p.V390L	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)	3	1247	+			390			JmjC.		B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.1168G>T	CCDS9815.2																																																																																				PASS	0.577	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		54	70	54	70	---	---	---	---
ISCA2	122961	broad.mit.edu	37	14	74960508	74960508	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:74960508G>C	ENST00000556816.1	+	1	86	c.31G>C	c.(31-33)Gcc>Ccc	p.A11P	NPC2_ENST00000555619.1_5'Flank|NPC2_ENST00000434013.2_5'Flank|ISCA2_ENST00000298818.8_Missense_Mutation_p.A11P|NPC2_ENST00000541064.1_5'Flank|ISCA2_ENST00000554924.1_Missense_Mutation_p.A11P|NPC2_ENST00000238633.2_5'Flank|NPC2_ENST00000557510.1_5'Flank			Q86U28	ISCA2_HUMAN	iron-sulfur cluster assembly 2	11					iron-sulfur cluster assembly (GO:0016226)	mitochondrion (GO:0005739)	iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)	p.A11P(1)		lung(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00146)		GTCCCTAACGGCCGCGACGCA	0.652																																						uc001xpz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(31-33)GCC>CCC		iron-sulfur cluster assembly 2 precursor							10.0	12.0	11.0					14																	74960508		2169	4247	6416	SO:0001583	missense	122961				iron-sulfur cluster assembly	mitochondrion	iron-sulfur cluster binding|metal ion binding|structural molecule activity	g.chr14:74960508G>C		CCDS32122.1, CCDS61504.1	14q24.2	2013-08-06	2013-08-06	2007-01-18	ENSG00000165898	ENSG00000165898			19857	protein-coding gene	gene with protein product		615317	"""HesB like domain containing 1"", ""iron-sulfur cluster assembly 2 homolog (S. cerevisiae)"""	HBLD1		22323289	Standard	NM_194279		Approved	ISA2	uc001xpz.3	Q86U28		ENST00000556816.1:c.31G>C	14.37:g.74960508G>C	ENSP00000452007:p.Ala11Pro					NPC2_uc001xpy.2_5'Flank|NPC2_uc010tus.1_5'Flank	p.A11P	NM_194279	NP_919255	Q86U28	ISCA2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00146)	1	59	+			11					A6NFF1|A8K3W3|G3V291|Q8IYZ0|Q96BB2	Missense_Mutation	SNP	ENST00000556816.1	37	c.31G>C	CCDS32122.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914397	0.72983	.	.	ENSG00000165898	ENST00000556816;ENST00000298818;ENST00000554924	.	.	.	5.52	4.62	0.57501	.	0.952610	0.08782	N	0.894476	T	0.42200	0.1192	L	0.27053	0.805	0.09310	N	1	P	0.46395	0.877	P	0.48524	0.58	T	0.32455	-0.9906	9	0.33940	T	0.23	-3.6189	14.0996	0.65046	0.0:0.1504:0.8496:0.0	.	11	Q86U28	ISCA2_HUMAN	P	11	.	ENSP00000298818:A11P	A	+	1	0	ISCA2	74030261	0.034000	0.19679	0.007000	0.13788	0.001000	0.01503	2.344000	0.44010	1.444000	0.47605	-0.175000	0.13238	GCC		PASS	0.652	ISCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412354.1	NM_194279		10	3	10	3	---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	75052587	75052587	+	Missense_Mutation	SNP	G	G	A	rs149952751	byFrequency	TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:75052587G>A	ENST00000261978.4	-	3	1186	c.800C>T	c.(799-801)tCg>tTg	p.S267L	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.S267L	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	267					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.S267L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGCGGGCGGCGACTGTGGTGC	0.662													G|||	2	0.000399361	0.0	0.0014	5008	,	,		14970	0.0		0.001	False		,,,				2504	0.0					uc001xqa.2																			1	Substitution - Missense(1)		lung(1)	liver(1)|skin(1)	2						c.(799-801)TCG>TTG		latent transforming growth factor beta binding		G	LEU/SER	3,4403	6.2+/-15.9	0,3,2200	45.0	56.0	52.0		800	0.2	0.1	14	dbSNP_134	52	13,8587	10.5+/-38.8	0,13,4287	yes	missense	LTBP2	NM_000428.2	145	0,16,6487	AA,AG,GG		0.1512,0.0681,0.123	benign	267/1822	75052587	16,12990	2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75052587G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.800C>T	14.37:g.75052587G>A	ENSP00000261978:p.Ser267Leu						p.S267L	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	3	1187	-			267					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.800C>T	CCDS9831.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	2.461	-0.324095	0.05350	6.81E-4	0.001512	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.78481	-1.17;-1.18	0.158	0.158	0.14942	.	2.239770	0.02540	N	0.094513	T	0.50051	0.1593	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44742	-0.9308	9	0.25751	T	0.34	.	.	.	.	.	267	Q14767	LTBP2_HUMAN	L	267	ENSP00000261978:S267L;ENSP00000451477:S267L	ENSP00000261978:S267L	S	-	2	0	LTBP2	74122340	0.521000	0.26258	0.145000	0.22337	0.048000	0.14542	0.251000	0.18257	0.202000	0.20498	0.205000	0.17691	TCG		PASS	0.662	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		13	71	13	71	---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	79432644	79432644	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:79432644C>T	ENST00000554719.1	+	9	2044	c.1553C>T	c.(1552-1554)aCc>aTc	p.T518I	NRXN3_ENST00000335750.5_Missense_Mutation_p.T518I	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.T518I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CAGGCTTACACCTCCATGCAC	0.502																																						uc001xun.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(1552-1554)ACC>ATC		neurexin 3 isoform 1 precursor							205.0	159.0	174.0					14																	79432644		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79432644C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1553C>T	14.37:g.79432644C>T	ENSP00000451648:p.Thr518Ile					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.T643I	p.T518I	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	9	2044	+		Renal(4;0.00876)	891			Extracellular (Potential).|Laminin G-like 5.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1553C>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258961	0.59321	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.79454	-1.27;-1.27	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.050825	0.85682	D	0.000000	T	0.81143	0.4761	.	.	.	0.53005	D	0.999963	D;P	0.62365	0.991;0.613	P;B	0.49085	0.6;0.242	T	0.79659	-0.1711	8	.	.	.	.	20.2786	0.98501	0.0:1.0:0.0:0.0	.	891;518	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	I	891;880;518;518	ENSP00000451648:T518I;ENSP00000338349:T518I	.	T	+	2	0	NRXN3	78502397	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.979000	0.70508	2.868000	0.98415	0.557000	0.71058	ACC		PASS	0.502	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		51	52	51	52	---	---	---	---
SERPINA6	866	broad.mit.edu	37	14	94772415	94772415	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:94772415G>T	ENST00000341584.3	-	4	1171	c.1025C>A	c.(1024-1026)tCa>tAa	p.S342*		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	342					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)	p.S342*(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TACCTTTGATGACTTCAGCTG	0.458																																						uc001ycv.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1024-1026)TCA>TAA		corticosteroid binding globulin precursor	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						129.0	117.0	121.0					14																	94772415		2203	4300	6503	SO:0001587	stop_gained	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94772415G>T	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.1025C>A	14.37:g.94772415G>T	ENSP00000342850:p.Ser342*					SERPINA6_uc010auv.2_RNA	p.S342*	NM_001756	NP_001747	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	4	1129	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	342					A8K456|Q7Z2Q9	Nonsense_Mutation	SNP	ENST00000341584.3	37	c.1025C>A	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593855	0.66219	.	.	ENSG00000170099	ENST00000341584	.	.	.	4.78	-3.38	0.04883	.	2.901570	0.02011	N	0.046995	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	1.1813	0.01846	0.4951:0.123:0.2265:0.1554	.	.	.	.	X	342	.	ENSP00000342850:S342X	S	-	2	0	SERPINA6	93842168	0.068000	0.21057	0.000000	0.03702	0.002000	0.02628	2.783000	0.47766	-0.583000	0.05921	-0.300000	0.09419	TCA		PASS	0.458	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		16	71	16	71	---	---	---	---
SERPINA11	256394	broad.mit.edu	37	14	94914504	94914504	+	Missense_Mutation	SNP	G	G	C	rs188994371		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:94914504G>C	ENST00000334708.3	-	2	672	c.608C>G	c.(607-609)aCg>aGg	p.T203R	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	203					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T385R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AACCATGAACGTGTCCTGGCT	0.468																																						uc001ydd.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(607-609)ACG>AGG		serpin peptidase inhibitor, clade A (alpha-1							98.0	99.0	99.0					14																	94914504		2203	4300	6503	SO:0001583	missense	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94914504G>C	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.608C>G	14.37:g.94914504G>C	ENSP00000335024:p.Thr203Arg						p.T203R	NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	668	-			203					B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	c.608C>G	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907966	0.33721	.	.	ENSG00000186910	ENST00000334708	D	0.87729	-2.29	4.91	4.02	0.46733	Serpin domain (3);	0.085398	0.49916	D	0.000134	D	0.95357	0.8493	H	0.96576	3.845	0.41086	D	0.985565	P	0.49559	0.925	D	0.67900	0.954	D	0.96603	0.9446	10	0.87932	D	0	.	13.5409	0.61672	0.0751:0.0:0.9249:0.0	.	203	Q86U17	SPA11_HUMAN	R	203	ENSP00000335024:T203R	ENSP00000335024:T203R	T	-	2	0	SERPINA11	93984257	1.000000	0.71417	0.836000	0.33094	0.031000	0.12232	3.132000	0.50523	1.301000	0.44836	-0.254000	0.11334	ACG		PASS	0.468	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451		38	114	38	114	---	---	---	---
SYNE3	161176	broad.mit.edu	37	14	95905372	95905372	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:95905372G>A	ENST00000334258.5	-	13	2388	c.2374C>T	c.(2374-2376)Cgc>Tgc	p.R792C	SYNE3_ENST00000554873.1_Missense_Mutation_p.R549C|SYNE3_ENST00000557275.1_Missense_Mutation_p.R792C	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	792					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)	p.R792C(3)		breast(1)|endometrium(2)|lung(25)	28						AGACTCACGCGTCGACGATGC	0.567																																						uc001yei.3																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(1)	1						c.(2374-2376)CGC>TGC		nesprin-3							193.0	173.0	180.0					14																	95905372		2203	4300	6503	SO:0001583	missense	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95905372G>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2374C>T	14.37:g.95905372G>A	ENSP00000334308:p.Arg792Cys					C14orf49_uc010avi.2_Missense_Mutation_p.R792C	p.R792C	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	13	2389	-		all_cancers(154;0.0937)	792			Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.2374C>T	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036160	0.35893	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.15372	3.44;2.43;3.45	5.25	-0.408	0.12381	.	0.909634	0.09043	N	0.857027	T	0.09158	0.0226	N	0.22421	0.69	0.09310	N	1	P;P	0.46457	0.878;0.807	B;B	0.39419	0.299;0.157	T	0.21759	-1.0236	10	0.54805	T	0.06	-12.3966	2.0182	0.03503	0.1088:0.3615:0.2583:0.2714	.	792;792	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	C	792;549;792	ENSP00000334308:R792C;ENSP00000452154:R549C;ENSP00000450562:R792C	ENSP00000334308:R792C	R	-	1	0	C14orf49	94975125	0.000000	0.05858	0.013000	0.15412	0.021000	0.10359	-0.766000	0.04725	0.212000	0.20703	0.491000	0.48974	CGC		PASS	0.567	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		55	155	55	155	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105419199	105419199	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:105419199C>A	ENST00000333244.5	-	7	2708	c.2589G>T	c.(2587-2589)gtG>gtT	p.V863V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	863						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.V863V(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGTCGGCCTCCACCTTCGGCG	0.612																																						uc010axc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2587-2589)GTG>GTT		AHNAK nucleoprotein 2							165.0	184.0	178.0					14																	105419199		1959	4135	6094	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105419199C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2589G>T	14.37:g.105419199C>A						AHNAK2_uc001ypx.2_Silent_p.V763V	p.V863V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2709	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	863					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.2589G>T	CCDS45177.1																																																																																				PASS	0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		170	171	170	171	---	---	---	---
IGHV1-18	28468	broad.mit.edu	37	14	106641769	106641769	+	RNA	SNP	T	T	G	rs139305030		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:106641769T>G	ENST00000390605.2	-	0	203									immunoglobulin heavy variable 1-18																		CCATAGCTGGTAAAGGTGTAA	0.552																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							163.0	149.0	154.0					14																	106641769		1953	4141	6094			8755							g.chr14:106641769T>G	M99641		14q32.33	2012-02-08			ENSG00000211945	ENSG00000211945		"""Immunoglobulins / IGH locus"""	5549	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152276		14.37:g.106641769T>G														1021		-									RNA	SNP	ENST00000390605.2	37	c.24232A>C																																																																																					PASS	0.552	IGHV1-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325664.1	NG_001019		70	162	70	162	---	---	---	---
NDN	4692	broad.mit.edu	37	15	23932317	23932317	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:23932317C>A	ENST00000331837.4	-	1	133	c.48G>T	c.(46-48)gaG>gaT	p.E16D		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	16					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E16D(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGTTGGGGGCCTCGGCTGCAA	0.657									Prader-Willi syndrome																													uc001ywk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(46-48)GAG>GAT		necdin							24.0	23.0	23.0					15																	23932317		1734	3432	5166	SO:0001583	missense	4692	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23932317C>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.48G>T	15.37:g.23932317C>A	ENSP00000332643:p.Glu16Asp						p.E16D	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	134	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	16					B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.48G>T	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	C	6.217	0.408222	0.11754	.	.	ENSG00000182636	ENST00000331837	T	0.02236	4.38	3.75	1.52	0.23074	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	0.09310	N	1	B	0.29378	0.243	B	0.21917	0.037	T	0.49606	-0.8922	9	0.39692	T	0.17	.	9.0837	0.36567	0.0:0.5536:0.4464:0.0	.	16	Q99608	NECD_HUMAN	D	16	ENSP00000332643:E16D	ENSP00000332643:E16D	E	-	3	2	NDN	21483410	0.000000	0.05858	0.193000	0.23327	0.061000	0.15899	-0.327000	0.07955	0.823000	0.34589	0.561000	0.74099	GAG		PASS	0.657	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		33	31	33	31	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24922999	24922999	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:24922999C>A	ENST00000329468.2	+	1	2459	c.1985C>A	c.(1984-1986)cCc>cAc	p.P662H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	662					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P662H(1)									GCTTCTCTCCCCAGTGCCTGT	0.507																																						uc001ywo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1984-1986)CCC>CAC		hypothetical protein LOC23742							138.0	133.0	135.0					15																	24922999		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922999C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1985C>A	15.37:g.24922999C>A	ENSP00000333735:p.Pro662His						p.P662H	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	2459	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	662						Missense_Mutation	SNP	ENST00000329468.2	37	c.1985C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	11.64	1.699447	0.30142	.	.	ENSG00000185823	ENST00000329468	T	0.09817	2.94	2.0	-0.125	0.13519	.	2.719470	0.01706	N	0.027430	T	0.16938	0.0407	L	0.46157	1.445	0.09310	N	1	D	0.65815	0.995	P	0.52514	0.701	T	0.10474	-1.0628	10	0.59425	D	0.04	.	3.1405	0.06453	0.0:0.5313:0.2847:0.184	.	662	Q9NZP6	CO002_HUMAN	H	662	ENSP00000333735:P662H	ENSP00000333735:P662H	P	+	2	0	C15orf2	22474092	0.002000	0.14202	0.000000	0.03702	0.121000	0.20230	1.157000	0.31724	-0.017000	0.14103	0.205000	0.17691	CCC		PASS	0.507	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		87	118	87	118	---	---	---	---
GABRA5	2558	broad.mit.edu	37	15	27193257	27193257	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:27193257C>A	ENST00000335625.5	+	11	2154	c.1266C>A	c.(1264-1266)atC>atA	p.I422I	GABRA5_ENST00000400081.3_Silent_p.I422I|GABRA5_ENST00000355395.5_Silent_p.I422I	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	422					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|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)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.I422I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|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)|Zopiclone(DB01198)	ACAACAGTATCAGCAAAATTG	0.438																																						uc001zbd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1264-1266)ATC>ATA		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						48.0	45.0	46.0					15																	27193257		1838	4102	5940	SO:0001819	synonymous_variant	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27193257C>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1266C>A	15.37:g.27193257C>A						GABRA5_uc001zbe.1_RNA	p.I422I	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	12	1605	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	422			Cytoplasmic (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Silent	SNP	ENST00000335625.5	37	c.1266C>A	CCDS45194.1																																																																																				PASS	0.438	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			9	28	9	28	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28211898	28211898	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:28211898G>A	ENST00000354638.3	-	15	1729	c.1574C>T	c.(1573-1575)cCg>cTg	p.P525L	OCA2_ENST00000353809.5_Missense_Mutation_p.P501L|OCA2_ENST00000382996.2_Missense_Mutation_p.P525L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	525					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.P525L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TCTGAGGAGCGGAAAGCAGAC	0.463									Oculocutaneous Albinism																													uc001zbh.3																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(1573-1575)CCG>CTG		oculocutaneous albinism II							109.0	91.0	97.0					15																	28211898		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28211898G>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1574C>T	15.37:g.28211898G>A	ENSP00000346659:p.Pro525Leu					OCA2_uc010ayv.2_Missense_Mutation_p.P501L	p.P525L	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	15	1684	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	525			Helical; (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1574C>T	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278313	0.23307	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	T;T;T	0.77229	-1.08;-1.08;-1.08	5.18	5.18	0.71444	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	N	0.05467	-0.045	0.80722	D	1	B;B	0.29646	0.039;0.253	B;B	0.23150	0.007;0.044	T	0.59037	-0.7529	10	0.02654	T	1	-13.7195	16.5492	0.84464	0.0:0.0:1.0:0.0	.	501;525	Q04671-2;Q04671	.;P_HUMAN	L	525;501;525	ENSP00000346659:P525L;ENSP00000261276:P501L;ENSP00000372457:P525L	ENSP00000261276:P501L	P	-	2	0	OCA2	25885493	1.000000	0.71417	0.488000	0.27440	0.162000	0.22319	8.766000	0.91728	2.563000	0.86464	0.650000	0.86243	CCG		PASS	0.463	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		12	33	12	33	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28436333	28436333	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:28436333C>A	ENST00000261609.7	-	54	8617	c.8509G>T	c.(8509-8511)Gta>Tta	p.V2837L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.V2837L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCAGGATCTACGATCATTTTT	0.368																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(8509-8511)GTA>TTA		hect domain and RLD 2							102.0	105.0	104.0					15																	28436333		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28436333C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8509G>T	15.37:g.28436333C>A	ENSP00000261609:p.Val2837Leu					HERC2_uc001zbk.1_Missense_Mutation_p.V372L	p.V2837L	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	54	8615	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2837			DOC.			Missense_Mutation	SNP	ENST00000261609.7	37	c.8509G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290804	0.80914	.	.	ENSG00000128731	ENST00000261609	T	0.63255	-0.03	5.56	5.56	0.83823	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	0.132779	0.49305	D	0.000144	T	0.77691	0.4168	L	0.56769	1.78	0.80722	D	1	B;D	0.76494	0.163;0.999	B;D	0.83275	0.084;0.996	T	0.76299	-0.3010	10	0.49607	T	0.09	.	19.8813	0.96900	0.0:1.0:0.0:0.0	.	304;2837	A8KAQ8;O95714	.;HERC2_HUMAN	L	2837	ENSP00000261609:V2837L	ENSP00000261609:V2837L	V	-	1	0	HERC2	26109928	1.000000	0.71417	0.684000	0.30055	0.977000	0.68977	6.057000	0.71119	2.770000	0.95276	0.643000	0.83706	GTA		PASS	0.368	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		37	55	37	55	---	---	---	---
OTUD7A	161725	broad.mit.edu	37	15	31776442	31776442	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:31776442C>A	ENST00000307050.4	-	11	1928	c.1836G>T	c.(1834-1836)tgG>tgT	p.W612C	OTUD7A_ENST00000382902.1_Missense_Mutation_p.W619C	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	612					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.W612C(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TGCTGTACTTCCAGGCGTCGC	0.697																																						uc001zfq.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1834-1836)TGG>TGT		OTU domain containing 7A							15.0	16.0	16.0					15																	31776442		2198	4293	6491	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31776442C>A	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1836G>T	15.37:g.31776442C>A	ENSP00000305926:p.Trp612Cys					OTUD7A_uc001zfr.2_Missense_Mutation_p.W619C	p.W612C	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	11	1929	-		all_lung(180;1.6e-09)	612					Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.1836G>T	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694640	0.68386	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.30714	1.52;1.52	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.41834	0.1176	L	0.34521	1.04	0.80722	D	1	D;D	0.71674	0.998;0.997	P;P	0.61592	0.891;0.781	T	0.21484	-1.0244	10	0.35671	T	0.21	-16.3273	17.4473	0.87581	0.0:1.0:0.0:0.0	.	619;612	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	C	612;619	ENSP00000305926:W612C;ENSP00000372358:W619C	ENSP00000305926:W612C	W	-	3	0	OTUD7A	29563734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.029000	0.76477	2.077000	0.62373	0.555000	0.69702	TGG		PASS	0.697	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		11	14	11	14	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33988492	33988492	+	Silent	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:33988492G>T	ENST00000389232.4	+	39	6004	c.5934G>T	c.(5932-5934)ctG>ctT	p.L1978L	RYR3_ENST00000415757.3_Silent_p.L1978L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1978	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.L1978L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATTCAGAGCTGGTCCGAATGA	0.557																																						uc001zhi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(5932-5934)CTG>CTT		ryanodine receptor 3							68.0	70.0	70.0					15																	33988492		2094	4243	6337	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33988492G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5934G>T	15.37:g.33988492G>T						RYR3_uc010bar.2_Silent_p.L1978L	p.L1978L	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	39	6004	+		all_lung(180;7.18e-09)	1978			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.5934G>T	CCDS45210.1																																																																																				PASS	0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			40	50	40	50	---	---	---	---
LRRC57	255252	broad.mit.edu	37	15	42837280	42837280	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:42837280C>G	ENST00000323443.2	-	4	1040	c.673G>C	c.(673-675)Gat>Cat	p.D225H	LRRC57_ENST00000397130.3_Missense_Mutation_p.D225H|LRRC57_ENST00000563454.1_Missense_Mutation_p.D225H			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	225						extracellular vesicular exosome (GO:0070062)		p.D225H(1)		breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		CATACCTTATCATAGCCTTCC	0.413																																						uc001zqd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(673-675)GAT>CAT		leucine rich repeat containing 57							82.0	84.0	83.0					15																	42837280		2203	4299	6502	SO:0001583	missense	255252							g.chr15:42837280C>G	AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.673G>C	15.37:g.42837280C>G	ENSP00000326817:p.Asp225His					LRRC57_uc001zqc.2_Missense_Mutation_p.D225H	p.D225H	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN		GBM - Glioblastoma multiforme(94;6.87e-07)	4	1041	-		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)	225					Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	ENST00000323443.2	37	c.673G>C	CCDS10089.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984981	0.74474	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.46451	0.87;0.87	5.36	5.36	0.76844	.	0.206596	0.49916	D	0.000137	T	0.44767	0.1309	M	0.75615	2.305	0.80722	D	1	P	0.42375	0.778	B	0.34385	0.181	T	0.52823	-0.8524	10	0.45353	T	0.12	.	19.0849	0.93200	0.0:1.0:0.0:0.0	.	225	Q8N9N7	LRC57_HUMAN	H	225	ENSP00000326817:D225H;ENSP00000380319:D225H	ENSP00000326817:D225H	D	-	1	0	LRRC57	40624572	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.264000	0.78432	2.520000	0.84964	0.557000	0.71058	GAT		PASS	0.413	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1	NM_153260		23	58	23	58	---	---	---	---
LRRC57	255252	broad.mit.edu	37	15	42837400	42837400	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:42837400C>T	ENST00000323443.2	-	4	920	c.553G>A	c.(553-555)Gag>Aag	p.E185K	LRRC57_ENST00000397130.3_Missense_Mutation_p.E185K|LRRC57_ENST00000563454.1_Missense_Mutation_p.E185K			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	185						extracellular vesicular exosome (GO:0070062)		p.E185K(1)		breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		AGACAATTCTCTTCCAGGCGA	0.403																																						uc001zqd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(553-555)GAG>AAG		leucine rich repeat containing 57							91.0	86.0	88.0					15																	42837400		2203	4299	6502	SO:0001583	missense	255252							g.chr15:42837400C>T	AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.553G>A	15.37:g.42837400C>T	ENSP00000326817:p.Glu185Lys					LRRC57_uc001zqc.2_Missense_Mutation_p.E185K	p.E185K	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN		GBM - Glioblastoma multiforme(94;6.87e-07)	4	921	-		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)	185			LRR 7.		Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	ENST00000323443.2	37	c.553G>A	CCDS10089.1	.	.	.	.	.	.	.	.	.	.	C	36	5.650615	0.96714	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.52295	0.67;0.67	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.69260	0.3091	M	0.73430	2.235	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	T	0.72070	-0.4401	10	0.62326	D	0.03	.	19.0849	0.93200	0.0:1.0:0.0:0.0	.	185	Q8N9N7	LRC57_HUMAN	K	185	ENSP00000326817:E185K;ENSP00000380319:E185K	ENSP00000326817:E185K	E	-	1	0	LRRC57	40624692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.264000	0.78432	2.520000	0.84964	0.557000	0.71058	GAG		PASS	0.403	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1	NM_153260		40	58	40	58	---	---	---	---
CKMT1A	548596	broad.mit.edu	37	15	43990941	43990941	+	Silent	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:43990941T>C	ENST00000413453.2	+	8	1638	c.1114T>C	c.(1114-1116)Ttg>Ctg	p.L372L	CKMT1A_ENST00000434505.1_Silent_p.L372L|STRC_ENST00000541030.1_Intron			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	372	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.L372L(1)		lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TATTTCTAATTTGGACCGACT	0.512																																						uc001zsn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1114-1116)TTG>CTG		creatine kinase, mitochondrial 1A precursor	Creatine(DB00148)						97.0	90.0	92.0					15																	43990941		2199	4297	6496	SO:0001819	synonymous_variant	548596				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43990941T>C	BC001926, BC006467	CCDS32217.1	15q15	2005-08-09			ENSG00000223572	ENSG00000223572	2.7.3.2		31736	protein-coding gene	gene with protein product		613415	"""creatine kinase, mitochondrial 1 (ubiquitous)"""	CKMT1			Standard	XM_005254498		Approved		uc001zsn.3	P12532	OTTHUMG00000059898	ENST00000413453.2:c.1114T>C	15.37:g.43990941T>C						CKMT1A_uc010uea.1_Silent_p.L403L|CKMT1A_uc001zso.3_Silent_p.L372L	p.L372L	NM_001015001	NP_001015001	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	9	1506	+		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	372			Phosphagen kinase C-terminal.		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Silent	SNP	ENST00000413453.2	37	c.1114T>C	CCDS32217.1																																																																																				PASS	0.512	CKMT1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133136.1			68	97	68	97	---	---	---	---
SLC28A2	9153	broad.mit.edu	37	15	45564584	45564584	+	Nonsense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:45564584T>A	ENST00000347644.3	+	16	1805	c.1740T>A	c.(1738-1740)tgT>tgA	p.C580*	SLC28A2_ENST00000560767.1_3'UTR|CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	580					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)	p.C580*(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TCAGTGCCTGTATGGCAGGTA	0.512																																					NSCLC(92;493 1501 26361 28917 47116)	uc001zva.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)	4						c.(1738-1740)TGT>TGA		solute carrier family 28 (sodium-coupled							87.0	75.0	79.0					15																	45564584		2198	4298	6496	SO:0001587	stop_gained	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45564584T>A	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.1740T>A	15.37:g.45564584T>A	ENSP00000315006:p.Cys580*						p.C580*	NM_004212	NP_004203	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	16	1805	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	580			Helical; (Potential).		A8K7F9|O43239|Q52LZ0	Nonsense_Mutation	SNP	ENST00000347644.3	37	c.1740T>A	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	T	39	7.294063	0.98192	.	.	ENSG00000137860	ENST00000347644	.	.	.	5.99	2.32	0.28847	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5812	8.9291	0.35659	0.0:0.2205:0.0:0.7795	.	.	.	.	X	580	.	ENSP00000315006:C580X	C	+	3	2	SLC28A2	43351876	0.984000	0.35163	0.974000	0.42286	0.985000	0.73830	0.474000	0.22148	0.134000	0.18681	0.533000	0.62120	TGT		PASS	0.512	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		38	77	38	77	---	---	---	---
MYEF2	50804	broad.mit.edu	37	15	48450377	48450377	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:48450377T>C	ENST00000324324.7	-	8	1195	c.916A>G	c.(916-918)Aaa>Gaa	p.K306E	MYEF2_ENST00000557868.1_5'UTR|MYEF2_ENST00000267836.6_Missense_Mutation_p.K306E	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	306	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K306E(1)		endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CTCACCATTTTCACATGCATA	0.343																																						uc001zwi.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(916-918)AAA>GAA		myelin expression factor 2							121.0	117.0	118.0					15																	48450377		2198	4297	6495	SO:0001583	missense	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48450377T>C	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.916A>G	15.37:g.48450377T>C	ENSP00000316950:p.Lys306Glu					MYEF2_uc001zwj.3_Missense_Mutation_p.K306E|MYEF2_uc001zwl.2_Missense_Mutation_p.K146E	p.K306E	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	8	1040	-		all_lung(180;0.00217)	306			RRM 2.		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	c.916A>G	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.988928	0.93106	.	.	ENSG00000104177	ENST00000324324;ENST00000267836	T;T	0.34072	1.38;1.38	5.33	5.33	0.75918	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.50017	0.1591	L	0.35414	1.06	0.80722	D	1	D;D	0.89917	1.0;0.989	D;D	0.91635	0.999;0.984	T	0.53457	-0.8436	10	0.87932	D	0	-14.1482	15.2893	0.73854	0.0:0.0:0.0:1.0	.	306;306	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	E	306	ENSP00000316950:K306E;ENSP00000267836:K306E	ENSP00000267836:K306E	K	-	1	0	MYEF2	46237669	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.026000	0.59711	0.402000	0.26972	AAA		PASS	0.343	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132		23	55	23	55	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48807697	48807697	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:48807697T>C	ENST00000316623.5	-	12	1810	c.1355A>G	c.(1354-1356)tAc>tGc	p.Y452C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	452	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.Y452C(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAACTGGCAGTAATCAGTAAC	0.443																																						uc001zwx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1354-1356)TAC>TGC		fibrillin 1 precursor							110.0	100.0	103.0					15																	48807697		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48807697T>C	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1355A>G	15.37:g.48807697T>C	ENSP00000325527:p.Tyr452Cys						p.Y452C	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	12	1683	-		all_lung(180;0.00279)	452			EGF-like 6.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.1355A>G	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.224862	0.58668	.	.	ENSG00000166147	ENST00000316623	D	0.87491	-2.26	5.93	5.93	0.95920	Matrix fibril-associated (1);Epidermal growth factor-like (1);	0.344395	0.32736	N	0.005708	D	0.85191	0.5640	L	0.46157	1.445	0.80722	D	1	P	0.46277	0.875	B	0.43754	0.43	D	0.84911	0.0848	10	0.38643	T	0.18	.	15.5755	0.76380	0.0:0.0:0.0:1.0	.	452	P35555	FBN1_HUMAN	C	452	ENSP00000325527:Y452C	ENSP00000325527:Y452C	Y	-	2	0	FBN1	46594989	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.315000	0.51951	2.281000	0.76405	0.533000	0.62120	TAC		PASS	0.443	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			17	103	17	103	---	---	---	---
ZNF280D	54816	broad.mit.edu	37	15	56968994	56968994	+	Silent	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:56968994T>C	ENST00000267807.7	-	13	1500	c.1284A>G	c.(1282-1284)tcA>tcG	p.S428S	ZNF280D_ENST00000396245.1_Silent_p.S132S|ZNF280D_ENST00000559000.1_Silent_p.S415S|ZNF280D_ENST00000559237.1_Silent_p.S415S	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	428					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.S428S(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CAGAAAATGATGATGATCTAT	0.294																																						uc002adu.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1282-1284)TCA>TCG		suppressor of hairy wing homolog 4 isoform 1							100.0	101.0	101.0					15																	56968994		2192	4292	6484	SO:0001819	synonymous_variant	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56968994T>C	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1284A>G	15.37:g.56968994T>C						ZNF280D_uc002adv.2_Silent_p.S415S|ZNF280D_uc010bfq.2_Silent_p.S428S|ZNF280D_uc002adw.1_Silent_p.S456S|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc010bfp.2_RNA	p.S428S	NM_017661	NP_060131	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	13	1501	-			428			C2H2-type 4.		A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Silent	SNP	ENST00000267807.7	37	c.1284A>G	CCDS32245.1																																																																																				PASS	0.294	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		41	63	41	63	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	64027022	64027022	+	Silent	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:64027022T>C	ENST00000443617.2	-	13	2634	c.2547A>G	c.(2545-2547)ggA>ggG	p.G849G		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	849					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G849G(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCATGGTTGCTCCCACTGATA	0.373																																						uc002amp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(2545-2547)GGA>GGG		hect domain and RCC1-like domain 1							79.0	71.0	74.0					15																	64027022		1859	4104	5963	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64027022T>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2547A>G	15.37:g.64027022T>C						HERC1_uc010uil.1_Intron	p.G849G	NM_003922	NP_003913	Q15751	HERC1_HUMAN			13	2695	-			849					Q8IW65	Silent	SNP	ENST00000443617.2	37	c.2547A>G	CCDS45277.1																																																																																				PASS	0.373	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		28	31	28	31	---	---	---	---
PDCD7	10081	broad.mit.edu	37	15	65425357	65425357	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:65425357C>G	ENST00000204549.4	-	1	817	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	255	Arg/Glu-rich.				apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)		p.E255Q(1)		endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						GCCTCGCGTTCCCGGGCCCTC	0.716																																						uc002aol.2																			1	Substitution - Missense(1)		lung(1)		0						c.(763-765)GAA>CAA		programmed cell death 7							17.0	18.0	17.0					15																	65425357		2200	4291	6491	SO:0001583	missense	10081				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex		g.chr15:65425357C>G	AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"""U11/U12 snRNP 59K"""	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.763G>C	15.37:g.65425357C>G	ENSP00000204549:p.Glu255Gln						p.E255Q	NM_005707	NP_005698	Q8N8D1	PDCD7_HUMAN			1	818	-			255			Arg/Glu-rich.|Potential.		Q96AK8|Q9Y6D7	Missense_Mutation	SNP	ENST00000204549.4	37	c.763G>C	CCDS10201.1	.	.	.	.	.	.	.	.	.	.	c	16.07	3.018722	0.54576	.	.	ENSG00000090470	ENST00000204549;ENST00000431964;ENST00000380204	.	.	.	3.44	3.44	0.39384	.	0.270948	0.28940	N	0.013647	T	0.45458	0.1343	L	0.56769	1.78	0.29210	N	0.874637	P	0.39250	0.665	B	0.39185	0.293	T	0.49428	-0.8941	9	0.34782	T	0.22	-0.9931	15.0301	0.71698	0.0:1.0:0.0:0.0	.	255	Q8N8D1	PDCD7_HUMAN	Q	255;40;49	.	ENSP00000204549:E255Q	E	-	1	0	PDCD7	63212410	0.988000	0.35896	0.995000	0.50966	0.975000	0.68041	1.717000	0.37991	1.892000	0.54788	0.306000	0.20318	GAA		PASS	0.716	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256784.2	NM_005707		11	17	11	17	---	---	---	---
IQCH	64799	broad.mit.edu	37	15	67687727	67687727	+	Missense_Mutation	SNP	C	C	A	rs148305719		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:67687727C>A	ENST00000335894.4	+	13	1797	c.1731C>A	c.(1729-1731)agC>agA	p.S577R	IQCH_ENST00000546225.1_Intron|IQCH_ENST00000358767.3_Intron|IQCH_ENST00000360277.4_Intron	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	577								p.S577R(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ACATCGTCAGCGGGCTCCTCC	0.473																																						uc002aqo.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1729-1731)AGC>AGA		IQ motif containing H isoform 1							140.0	135.0	137.0					15																	67687727		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67687727C>A	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1731C>A	15.37:g.67687727C>A	ENSP00000336861:p.Ser577Arg					IQCH_uc002aqq.1_Intron|IQCH_uc002aqp.1_Intron	p.S577R	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	13	1778	+			577					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.1731C>A	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675978	0.29783	.	.	ENSG00000103599	ENST00000335894	T	0.45276	0.9	6.17	0.24	0.15489	.	0.493671	0.24516	N	0.037843	T	0.43255	0.1239	L	0.56769	1.78	0.80722	D	1	P	0.49358	0.923	P	0.54499	0.754	T	0.31052	-0.9957	10	0.45353	T	0.12	-16.0162	2.3472	0.04274	0.1534:0.2967:0.0997:0.4502	.	577	Q86VS3	IQCH_HUMAN	R	577	ENSP00000336861:S577R	ENSP00000336861:S577R	S	+	3	2	IQCH	65474781	0.208000	0.23494	0.220000	0.23810	0.072000	0.16883	-0.491000	0.06474	-0.187000	0.10516	0.655000	0.94253	AGC		PASS	0.473	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		86	140	86	140	---	---	---	---
PIAS1	8554	broad.mit.edu	37	15	68468068	68468068	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:68468068A>T	ENST00000249636.6	+	10	1411	c.1263A>T	c.(1261-1263)gaA>gaT	p.E421D	PIAS1_ENST00000545237.1_Missense_Mutation_p.E423D	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	421					androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E421D(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						CAAAAAAGGAAGTACAGGAAG	0.408																																						uc002aqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1261-1263)GAA>GAT		protein inhibitor of activated STAT, 1							88.0	87.0	88.0					15																	68468068		1876	4103	5979	SO:0001583	missense	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68468068A>T	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1263A>T	15.37:g.68468068A>T	ENSP00000249636:p.Glu421Asp					PIAS1_uc002ara.2_Missense_Mutation_p.E29D	p.E421D	NM_016166	NP_057250	O75925	PIAS1_HUMAN			10	1359	+			421					B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	c.1263A>T	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.946419	0.53186	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.37235	1.21;1.21	5.45	1.7	0.24286	.	0.094301	0.64402	D	0.000001	T	0.37892	0.1020	M	0.78344	2.41	0.47862	D	0.999538	B	0.23490	0.086	B	0.26094	0.066	T	0.26087	-1.0113	10	0.51188	T	0.08	-18.0174	9.2772	0.37707	0.658:0.0:0.342:0.0	.	421	O75925	PIAS1_HUMAN	D	421;423	ENSP00000249636:E421D;ENSP00000438574:E423D	ENSP00000249636:E421D	E	+	3	2	PIAS1	66255122	0.597000	0.26874	0.998000	0.56505	0.817000	0.46193	-0.082000	0.11304	0.335000	0.23614	-0.256000	0.11100	GAA		PASS	0.408	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			11	27	11	27	---	---	---	---
SPESP1	246777	broad.mit.edu	37	15	69238585	69238585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:69238585C>T	ENST00000310673.3	+	2	866	c.712C>T	c.(712-714)Caa>Taa	p.Q238*	NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	238					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)		p.Q238*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TTCACAAGTGCAACAGGCACT	0.398																																						uc002arn.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(712-714)CAA>TAA		sperm equatorial segment protein 1 precursor							51.0	54.0	53.0					15																	69238585		2199	4298	6497	SO:0001587	stop_gained	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238585C>T	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.712C>T	15.37:g.69238585C>T	ENSP00000312284:p.Gln238*					NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	p.Q238*	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN			2	840	+			238					Q8NG22|Q8WVH8	Nonsense_Mutation	SNP	ENST00000310673.3	37	c.712C>T	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285231	0.59867	.	.	ENSG00000258484	ENST00000310673	.	.	.	4.96	3.99	0.46301	.	0.714243	0.11937	N	0.515168	.	.	.	.	.	.	0.20196	N	0.999924	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-2.9107	11.1574	0.48495	0.1832:0.8168:0.0:0.0	.	.	.	.	X	238	.	ENSP00000312284:Q238X	Q	+	1	0	SPESP1	67025639	0.001000	0.12720	0.006000	0.13384	0.011000	0.07611	0.953000	0.29162	2.454000	0.82982	0.655000	0.94253	CAA		PASS	0.398	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		23	58	23	58	---	---	---	---
HYKK	123688	broad.mit.edu	37	15	78805758	78805758	+	Missense_Mutation	SNP	G	G	T	rs377280170	byFrequency	TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:78805758G>T	ENST00000569878.1	+	1	328	c.328G>T	c.(328-330)Gtg>Ttg	p.V110L	HYKK_ENST00000566332.1_Missense_Mutation_p.V110L|HYKK_ENST00000408962.2_Missense_Mutation_p.V110L|HYKK_ENST00000360519.3_Missense_Mutation_p.V110L|HYKK_ENST00000563233.1_Missense_Mutation_p.V110L|HYKK_ENST00000388988.4_Missense_Mutation_p.V110L			A2RU49	HYKK_HUMAN	hydroxylysine kinase	110						cytoplasm (GO:0005737)	hydroxylysine kinase activity (GO:0047992)	p.V110L(1)									AGCTTCTCTCGTGTCTGTAGG	0.448																																						uc010unc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(328-330)GTG>TTG		aminoglycoside phosphotransferase domain							58.0	58.0	58.0					15																	78805758		1909	4118	6027	SO:0001583	missense	123688					cytoplasm	kinase activity	g.chr15:78805758G>T	BC132753, BC144383, BM045979	CCDS42063.1, CCDS45318.1	15q25.1	2013-06-11	2013-06-11	2013-06-11	ENSG00000188266	ENSG00000188266	2.7.1.81		34403	protein-coding gene	gene with protein product	"""5-hydroxylysine kinase"""	614681	"""aminoglycoside phosphotransferase domain containing 1"""	AGPHD1		18780872, 22241472	Standard	NM_001013619		Approved	LOC123688	uc010unc.2	A2RU49		ENST00000569878.1:c.328G>T	15.37:g.78805758G>T	ENSP00000455459:p.Val110Leu					AGPHD1_uc002bdt.2_Missense_Mutation_p.V110L|AGPHD1_uc010ble.2_Missense_Mutation_p.V110L	p.V110L	NM_001013619	NP_001013641	A2RU49	AGPD1_HUMAN			2	441	+			110					B7ZMA5|F8W6X5|Q6ZTN0	Missense_Mutation	SNP	ENST00000569878.1	37	c.328G>T	CCDS42063.1	.	.	.	.	.	.	.	.	.	.	G	0.121	-1.126101	0.01770	.	.	ENSG00000188266	ENST00000408962;ENST00000388988;ENST00000360519	T;T;T	0.25749	1.78;1.78;1.78	5.97	-7.6	0.01303	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	0.750822	0.12742	N	0.442984	T	0.15262	0.0368	L	0.39020	1.185	0.09310	N	1	B;B	0.27450	0.016;0.179	B;B	0.23574	0.026;0.047	T	0.25916	-1.0118	10	0.09084	T	0.74	-1.908	16.4964	0.84246	0.1665:0.1024:0.731:0.0	.	110;110	A2RU49;A2RU49-3	AGPD1_HUMAN;.	L	110	ENSP00000386197:V110L;ENSP00000373640:V110L;ENSP00000353710:V110L	ENSP00000353710:V110L	V	+	1	0	AGPHD1	76592813	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.661000	0.05311	-1.780000	0.01279	0.655000	0.94253	GTG		PASS	0.448	HYKK-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435834.1	NM_001013619		48	57	48	57	---	---	---	---
ST20	400410	broad.mit.edu	37	15	80215270	80215270	+	Intron	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:80215270C>T	ENST00000485386.1	-	1	251				C15ORF37_ENST00000542003.1_5'Flank|ST20-MTHFS_ENST00000494999.1_Intron|ST20-MTHFS_ENST00000479961.1_Intron|C15orf37_ENST00000560255.1_Missense_Mutation_p.P52L			Q9HBF5	ST20_HUMAN	suppressor of tumorigenicity 20						extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P52L(1)		kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CCAGAGGGTCCACAATCCAGA	0.597																																						uc002bfb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)CCA>CTA		RecName: Full=Putative uncharacterized protein C15orf37;							82.0	92.0	89.0					15																	80215270		1951	4126	6077	SO:0001627	intron_variant	283687							g.chr15:80215270C>T	AF249277	CCDS42067.1	15q25.1	2007-07-16				ENSG00000180953			33520	protein-coding gene	gene with protein product							Standard	NM_001100879		Approved	HCCS-1		Q9HBF5		ENST00000485386.1:c.10+523G>A	15.37:g.80215270C>T						ST20_uc002bfa.3_Intron	p.P52L	NM_175898	NP_787094					1	158	+									Missense_Mutation	SNP	ENST00000485386.1	37	c.155C>T	CCDS42067.1																																																																																				PASS	0.597	ST20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416729.1			21	43	21	43	---	---	---	---
AP3B2	8120	broad.mit.edu	37	15	83358139	83358139	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:83358139C>G	ENST00000261722.3	-	2	387	c.180G>C	c.(178-180)agG>agC	p.R60S	AP3B2_ENST00000561455.1_5'UTR|AP3B2_ENST00000542200.1_Missense_Mutation_p.R60S|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R60S|AP3B2_ENST00000535348.1_Missense_Mutation_p.R60S	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	60					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.R60S(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCGCCACAATCCTCTTCATGG	0.582																																						uc010uoh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(178-180)AGG>AGC		adaptor-related protein complex 3, beta 2							60.0	57.0	58.0					15																	83358139		2002	4172	6174	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83358139C>G	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.180G>C	15.37:g.83358139C>G	ENSP00000261722:p.Arg60Ser					AP3B2_uc010uoi.1_Missense_Mutation_p.R60S|AP3B2_uc010uoj.1_Missense_Mutation_p.R60S|AP3B2_uc010uok.1_Missense_Mutation_p.R60S	p.R60S	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		2	357	-			60					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.180G>C	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413251	0.83449	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359;ENST00000541693;ENST00000542200;ENST00000535513	T;T;T;T;T	0.30981	1.51;2.55;1.51;1.51;1.51	5.93	3.06	0.35304	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.105878	0.64402	D	0.000013	T	0.58836	0.2150	M	0.88450	2.955	0.80722	D	1	D;P;P;P	0.89917	1.0;0.925;0.885;0.943	D;P;P;P	0.91635	0.999;0.572;0.688;0.823	T	0.62397	-0.6863	10	0.59425	D	0.04	-18.3646	11.4521	0.50158	0.0:0.805:0.0:0.195	.	60;60;60;60	F5H0E6;B7ZKR7;B7ZKS0;Q13367	.;.;.;AP3B2_HUMAN	S	60;60;60;16;60;60	ENSP00000261722:R60S;ENSP00000438721:R60S;ENSP00000440984:R60S;ENSP00000441961:R16S;ENSP00000440719:R60S	ENSP00000261722:R60S	R	-	3	2	AP3B2	81155193	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.095000	0.30964	0.412000	0.25729	0.655000	0.94253	AGG		PASS	0.582	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			16	36	16	36	---	---	---	---
ADAMTSL3	57188	broad.mit.edu	37	15	84611828	84611828	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:84611828G>A	ENST00000286744.5	+	19	2708	c.2484G>A	c.(2482-2484)tgG>tgA	p.W828*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.W828*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	828	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.W828*(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGGAGACTGGTCGAAGGTAA	0.478																																						uc002bjz.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(2482-2484)TGG>TGA		ADAMTS-like 3 precursor							57.0	50.0	53.0					15																	84611828		2203	4300	6503	SO:0001587	stop_gained	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84611828G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2484G>A	15.37:g.84611828G>A	ENSP00000286744:p.Trp828*					ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.W828*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.W828*	p.W828*	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		19	2708	+			828			TSP type-1 7.		A1A566|A1A567|Q9ULI7	Nonsense_Mutation	SNP	ENST00000286744.5	37	c.2484G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	42	9.524663	0.99195	.	.	ENSG00000156218	ENST00000286744	.	.	.	5.08	5.08	0.68730	.	0.000000	0.36034	N	0.002840	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0594	0.89372	0.0:0.0:1.0:0.0	.	.	.	.	X	828	.	ENSP00000286744:W828X	W	+	3	0	ADAMTSL3	82402832	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.831000	0.86748	2.358000	0.79984	0.655000	0.94253	TGG		PASS	0.478	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		21	33	21	33	---	---	---	---
ACAN	176	broad.mit.edu	37	15	89400078	89400078	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:89400078C>T	ENST00000561243.1	+	11	4262	c.4262C>T	c.(4261-4263)aCt>aTt	p.T1421I	ACAN_ENST00000559004.1_Missense_Mutation_p.T1421I|ACAN_ENST00000439576.2_Missense_Mutation_p.T1421I|ACAN_ENST00000352105.7_Missense_Mutation_p.T1421I			P16112	PGCA_HUMAN	aggrecan	1422	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.T1307I(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTTCTAGAGACTACTGCCCCT	0.537																																						uc010upo.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(4261-4263)ACT>ATT		aggrecan isoform 2 precursor							125.0	129.0	128.0					15																	89400078		1847	4077	5924	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400078C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4262C>T	15.37:g.89400078C>T	ENSP00000453342:p.Thr1421Ile					ACAN_uc010upp.1_Missense_Mutation_p.T1421I|ACAN_uc002bna.2_RNA	p.T1421I	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	4636	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1421					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.4262C>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	-	11.71	1.720391	0.30503	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.95788	-3.63;-3.81	3.81	0.748	0.18376	.	0.514449	0.14620	N	0.308443	D	0.88724	0.6514	L	0.33093	0.98	0.09310	N	1	B;B	0.28880	0.226;0.217	B;B	0.24974	0.039;0.057	T	0.78370	-0.2230	10	0.32370	T	0.25	.	3.0013	0.06015	0.1417:0.55:0.1381:0.1702	.	1421;1421	E7ENV9;E7EX88	.;.	I	1421;1421;1307	ENSP00000387356:T1421I;ENSP00000341615:T1421I	ENSP00000268134:T1307I	T	+	2	0	ACAN	87201082	0.091000	0.21658	0.001000	0.08648	0.603000	0.37013	0.897000	0.28390	0.054000	0.16065	0.491000	0.48974	ACT		PASS	0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		110	187	110	187	---	---	---	---
ANPEP	290	broad.mit.edu	37	15	90349349	90349349	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:90349349C>A	ENST00000300060.6	-	2	779	c.466G>T	c.(466-468)Gtg>Ttg	p.V156L		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	156	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.V156L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GTGGGCTCCACCAGCTCAGTC	0.617																																					NSCLC(30;827 977 2459 19669 26125)	uc002bop.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(466-468)GTG>TTG		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						83.0	77.0	79.0					15																	90349349		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90349349C>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.466G>T	15.37:g.90349349C>A	ENSP00000300060:p.Val156Leu						p.V156L	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		2	758	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		156			Extracellular.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.466G>T	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909957	0.33721	.	.	ENSG00000166825	ENST00000300060	T	0.02579	4.24	5.07	5.07	0.68467	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.462648	0.23704	N	0.045390	T	0.04952	0.0133	L	0.51422	1.61	0.34204	D	0.673483	P	0.43662	0.814	P	0.47251	0.542	T	0.35968	-0.9767	10	0.10902	T	0.67	.	11.0978	0.48155	0.1849:0.8151:0.0:0.0	.	156	P15144	AMPN_HUMAN	L	156	ENSP00000300060:V156L	ENSP00000300060:V156L	V	-	1	0	ANPEP	88150353	0.996000	0.38824	0.988000	0.46212	0.710000	0.40934	1.297000	0.33400	2.352000	0.79861	0.563000	0.77884	GTG		PASS	0.617	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			34	52	34	52	---	---	---	---
ARRDC4	91947	broad.mit.edu	37	15	98513248	98513248	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:98513248A>G	ENST00000268042.6	+	6	1182	c.1018A>G	c.(1018-1020)Aca>Gca	p.T340A	ARRDC4_ENST00000538249.1_Missense_Mutation_p.T253A	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	340					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)		p.T340A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			GAGCTGGTTGACACTGACCCT	0.428																																						uc010bom.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1018-1020)ACA>GCA		arrestin domain containing 4							65.0	66.0	66.0					15																	98513248		2197	4298	6495	SO:0001583	missense	91947				signal transduction			g.chr15:98513248A>G	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.1018A>G	15.37:g.98513248A>G	ENSP00000268042:p.Thr340Ala					ARRDC4_uc002bui.3_Missense_Mutation_p.T253A	p.T340A	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		6	1177	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		340					Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	37	c.1018A>G	CCDS10377.1	.	.	.	.	.	.	.	.	.	.	A	5.488	0.275135	0.10403	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.05925	3.37;3.37	4.87	-0.168	0.13343	Immunoglobulin E-set (1);	0.396466	0.27092	N	0.020974	T	0.01940	0.0061	N	0.01668	-0.77	0.23940	N	0.996405	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.47586	-0.9106	10	0.07813	T	0.8	-0.3926	11.3604	0.49640	0.3309:0.0:0.6691:0.0	.	340;253	Q8NCT1;F5H824	ARRD4_HUMAN;.	A	253;340	ENSP00000443774:T253A;ENSP00000268042:T340A	ENSP00000268042:T340A	T	+	1	0	ARRDC4	96314252	0.998000	0.40836	0.425000	0.26659	0.997000	0.91878	0.741000	0.26202	-0.115000	0.11915	0.528000	0.53228	ACA		PASS	0.428	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		11	60	11	60	---	---	---	---
CERS3	204219	broad.mit.edu	37	15	101024834	101024834	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:101024834C>A	ENST00000394113.1	-	7	1018	c.328G>T	c.(328-330)Gag>Tag	p.E110*	CERS3_ENST00000284382.4_Nonsense_Mutation_p.E110*|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Nonsense_Mutation_p.E110*			Q8IU89	CERS3_HUMAN	ceramide synthase 3	110					ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.E110*(1)									ACCTGGCGCTCCGTCAAGTTA	0.483																																						uc002bvz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(328-330)GAG>TAG		LAG1 longevity assurance homolog 3							82.0	69.0	73.0					15																	101024834		2203	4300	6503	SO:0001587	stop_gained	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:101024834C>A		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.328G>T	15.37:g.101024834C>A	ENSP00000377672:p.Glu110*					LASS3_uc002bwa.2_Nonsense_Mutation_p.E121*|LASS3_uc002bwb.2_Nonsense_Mutation_p.E110*	p.E110*	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)		6	830	-	Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852)		110			Homeobox.		Q8NE64|Q8NEN6	Nonsense_Mutation	SNP	ENST00000394113.1	37	c.328G>T	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	39	7.889625	0.98545	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	.	.	.	5.26	4.28	0.50868	.	0.301266	0.35772	N	0.002986	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-17.1421	7.8048	0.29195	0.1643:0.7502:0.0:0.0856	.	.	.	.	X	110;121;110	.	ENSP00000284382:E110X	E	-	1	0	CERS3	98842357	0.997000	0.39634	0.998000	0.56505	0.987000	0.75469	3.733000	0.55029	2.448000	0.82819	0.655000	0.94253	GAG		PASS	0.483	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		33	38	33	38	---	---	---	---
CAPN15	6650	broad.mit.edu	37	16	601631	601631	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:601631G>A	ENST00000219611.2	+	9	2675	c.2312G>A	c.(2311-2313)gGt>gAt	p.G771D	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	771	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G771D(1)									AGCAGTGAGGGTGTCTTCTGG	0.682																																						uc002chi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(2311-2313)GGT>GAT		small optic lobes							43.0	51.0	48.0					16																	601631		2199	4297	6496	SO:0001583	missense	6650				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:601631G>A	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2312G>A	16.37:g.601631G>A	ENSP00000219611:p.Gly771Asp					SOLH_uc002chj.2_5'Flank	p.G771D	NM_005632	NP_005623	O75808	CAN15_HUMAN			9	2675	+		Hepatocellular(780;0.00335)	771			Calpain catalytic.		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.2312G>A	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	g	28.0	4.885503	0.91814	.	.	ENSG00000103326	ENST00000219611	D	0.94330	-3.4	5.26	5.26	0.73747	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.97967	0.9331	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99414	1.0931	10	0.87932	D	0	.	17.4216	0.87516	0.0:0.0:1.0:0.0	.	771	O75808	CAN15_HUMAN	D	771	ENSP00000219611:G771D	ENSP00000219611:G771D	G	+	2	0	SOLH	541632	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	9.749000	0.98871	2.463000	0.83235	0.556000	0.70494	GGT		PASS	0.682	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		10	42	10	42	---	---	---	---
IFT140	9742	broad.mit.edu	37	16	1561113	1561113	+	Silent	SNP	G	G	C	rs544908970		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:1561113G>C	ENST00000426508.2	-	31	4584	c.4221C>G	c.(4219-4221)ccC>ccG	p.P1407P	LA16c-385E7.1_ENST00000566922.1_lincRNA|IFT140_ENST00000361339.5_Silent_p.P601P	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1407					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.P1407P(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGTTGGCCAAGGGAAGCCGCC	0.662																																						uc002cmb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(4219-4221)CCC>CCG		intraflagellar transport 140							26.0	27.0	26.0					16																	1561113		2197	4297	6494	SO:0001819	synonymous_variant	9742							g.chr16:1561113G>C	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.4221C>G	16.37:g.1561113G>C						IFT140_uc002clz.2_Silent_p.P1020P	p.P1407P	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			31	4583	-		Hepatocellular(780;0.219)	1407			TPR 9.		A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.4221C>G	CCDS10439.1																																																																																				PASS	0.662	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		5	27	5	27	---	---	---	---
SYNGR3	9143	broad.mit.edu	37	16	2042734	2042734	+	Silent	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:2042734G>T	ENST00000248121.2	+	3	593	c.435G>T	c.(433-435)gcG>gcT	p.A145A	SYNGR3_ENST00000562045.1_Missense_Mutation_p.R57L	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	145	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				positive regulation of transporter activity (GO:0032411)|substantia nigra development (GO:0021762)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|synaptic vesicle (GO:0008021)		p.A145A(1)		endometrium(1)|lung(2)	3						CGGGGGACGCGGCGCGGGCCG	0.721																																						uc002cod.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(433-435)GCG>GCT		synaptogyrin 3							9.0	11.0	10.0					16																	2042734		2118	4150	6268	SO:0001819	synonymous_variant	9143				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle		g.chr16:2042734G>T	AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561			11501	protein-coding gene	gene with protein product		603927				9760194	Standard	NM_004209		Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000248121.2:c.435G>T	16.37:g.2042734G>T							p.A145A	NM_004209	NP_004200	O43761	SNG3_HUMAN			3	571	+			145			MARVEL.		B2R9S0	Silent	SNP	ENST00000248121.2	37	c.435G>T	CCDS10456.1																																																																																				PASS	0.721	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250616.1			11	9	11	9	---	---	---	---
MEFV	4210	broad.mit.edu	37	16	3304503	3304503	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:3304503C>A	ENST00000219596.1	-	2	604	c.565G>T	c.(565-567)Ggc>Tgc	p.G189C	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	189					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.G189C(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CTGCAGGGGCCGGGGCTTCTC	0.776																																						uc002cun.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(565-567)GGC>TGC		Mediterranean fever protein	Colchicine(DB01394)						4.0	5.0	4.0					16																	3304503		1698	3532	5230	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3304503C>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.565G>T	16.37:g.3304503C>A	ENSP00000219596:p.Gly189Cys						p.G189C	NM_000243	NP_000234	O15553	MEFV_HUMAN			2	605	-			189					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.565G>T	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420640	0.42918	.	.	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.65178	-0.14	4.45	-2.6	0.06190	.	1.702230	0.02982	N	0.145787	T	0.40546	0.1121	N	0.14661	0.345	0.09310	N	0.999999	B	0.13145	0.007	B	0.09377	0.004	T	0.14559	-1.0468	10	0.42905	T	0.14	-13.8071	2.3166	0.04200	0.3337:0.3574:0.2087:0.1002	.	189	O15553	MEFV_HUMAN	C	189	ENSP00000219596:G189C	ENSP00000219596:G189C	G	-	1	0	MEFV	3244504	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.570000	0.02140	-0.477000	0.06832	-0.243000	0.11985	GGC		PASS	0.776	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		4	6	4	6	---	---	---	---
ZSCAN32	54925	broad.mit.edu	37	16	3434809	3434809	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:3434809C>G	ENST00000396852.4	-	6	1191	c.884G>C	c.(883-885)tGg>tCg	p.W295S	ZSCAN32_ENST00000396846.3_Missense_Mutation_p.W295S|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.W6S|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.W83S|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.W83S|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.W6S|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.W295S	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	295	KRAB.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.W83S(1)									ACCCTGCTCCCAGAGTCCTTC	0.522																																						uc002cuz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(247-249)TGG>TCG		zinc finger protein 434							138.0	145.0	143.0					16																	3434809		2197	4300	6497	SO:0001583	missense	54925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3434809C>G	AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.884G>C	16.37:g.3434809C>G	ENSP00000380061:p.Trp295Ser					ZNF434_uc002cux.3_Missense_Mutation_p.W294S|ZNF434_uc010uwx.1_Missense_Mutation_p.W6S|ZNF434_uc002cuy.3_Missense_Mutation_p.W6S|ZNF434_uc010uwy.1_Missense_Mutation_p.W6S|ZNF434_uc010uwz.1_Missense_Mutation_p.W294S|ZNF434_uc010uxa.1_Missense_Mutation_p.W83S	p.W83S	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN			5	1050	-			83					B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37	c.248G>C		.	.	.	.	.	.	.	.	.	.	C	9.120	1.008847	0.19199	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568;ENST00000422427	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	3.38	-6.77	0.01727	.	2.865470	0.02060	U	0.050699	T	0.36853	0.0982	L	0.29908	0.895	0.09310	N	1	P;B;B	0.34800	0.469;0.144;0.144	P;B;B	0.45946	0.498;0.042;0.042	T	0.36768	-0.9734	10	0.21540	T	0.41	.	8.0844	0.30762	0.0:0.5718:0.1401:0.2881	.	83;83;295	B4DR24;Q9NX65;Q6WMU8	.;ZN434_HUMAN;.	S	83;295;295;6;83	ENSP00000302502:W83S;ENSP00000380061:W295S;ENSP00000380057:W295S;ENSP00000391787:W6S;ENSP00000407312:W83S	ENSP00000302502:W83S	W	-	2	0	ZNF434	3374810	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.503000	0.02277	-1.582000	0.01640	-0.768000	0.03414	TGG		PASS	0.522	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		108	109	108	109	---	---	---	---
TFAP4	7023	broad.mit.edu	37	16	4312391	4312391	+	Silent	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:4312391G>T	ENST00000204517.6	-	3	616	c.288C>A	c.(286-288)atC>atA	p.I96I		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	96	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.I96I(1)		NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CCAGGGAGAAGATGTACTCGG	0.592																																						uc010uxg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(286-288)ATC>ATA		transcription factor AP-4 (activating enhancer							112.0	104.0	107.0					16																	4312391		2197	4300	6497	SO:0001819	synonymous_variant	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4312391G>T	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"""Basic helix-loop-helix proteins"""	11745	protein-coding gene	gene with protein product		600743	"""transcription factor AP-4 (activating enhancer-binding protein 4)"""			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.288C>A	16.37:g.4312391G>T							p.I96I	NM_003223	NP_003214	Q01664	TFAP4_HUMAN			3	542	-			96			Helix-loop-helix motif.		O60409	Silent	SNP	ENST00000204517.6	37	c.288C>A	CCDS10510.1																																																																																				PASS	0.592	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		30	105	30	105	---	---	---	---
TMC5	79838	broad.mit.edu	37	16	19483417	19483417	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:19483417T>A	ENST00000396229.2	+	11	2539	c.1790T>A	c.(1789-1791)cTg>cAg	p.L597Q	TMC5_ENST00000564959.1_Missense_Mutation_p.L280Q|TMC5_ENST00000561503.1_Missense_Mutation_p.L238Q|TMC5_ENST00000542583.2_Missense_Mutation_p.L597Q|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000219821.5_Missense_Mutation_p.L351Q|TMC5_ENST00000381414.4_Missense_Mutation_p.L597Q	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	597					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L597Q(1)|p.L351Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TAGGAGAACCTGTCAGAGCTC	0.532																																						uc002dgc.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1789-1791)CTG>CAG		transmembrane channel-like 5 isoform a							107.0	102.0	104.0					16																	19483417		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19483417T>A	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.1790T>A	16.37:g.19483417T>A	ENSP00000379531:p.Leu597Gln					TMC5_uc010vaq.1_Intron|TMC5_uc002dgb.3_Missense_Mutation_p.L597Q|TMC5_uc010var.1_Missense_Mutation_p.L597Q|TMC5_uc002dgd.1_Missense_Mutation_p.L351Q|TMC5_uc002dge.3_Missense_Mutation_p.L351Q|TMC5_uc002dgf.3_Missense_Mutation_p.L280Q|TMC5_uc002dgg.3_Missense_Mutation_p.L238Q	p.L597Q	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN			11	2539	+			597			Cytoplasmic (Potential).		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.1790T>A	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.443540	0.83993	.	.	ENSG00000103534	ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.68	5.68	0.88126	.	0.181053	0.36740	N	0.002437	T	0.82176	0.4980	M	0.89478	3.035	0.46927	D	0.999253	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.998;0.996;0.997;1.0	D	0.85797	0.1371	10	0.87932	D	0	-11.8733	14.9057	0.70718	0.0:0.0:0.0:1.0	.	280;351;351;597;597	E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;TMC5_HUMAN;.	Q	597;597;597;351;280	ENSP00000370822:L597Q;ENSP00000379531:L597Q;ENSP00000446274:L597Q;ENSP00000219821:L351Q	ENSP00000219821:L351Q	L	+	2	0	TMC5	19390918	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.770000	0.68873	2.159000	0.67721	0.459000	0.35465	CTG		PASS	0.532	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		72	74	72	74	---	---	---	---
ACSM5	54988	broad.mit.edu	37	16	20429497	20429497	+	Silent	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:20429497G>T	ENST00000331849.4	+	3	468	c.321G>T	c.(319-321)ggG>ggT	p.G107G	ACSM5_ENST00000575584.1_Silent_p.G107G	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	107					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.G107G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ATGTGCTGGGGGGTGCATGCG	0.607																																						uc002dhe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(319-321)GGG>GGT		acyl-CoA synthetase medium-chain family member 5							69.0	58.0	62.0					16																	20429497		2203	4300	6503	SO:0001819	synonymous_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20429497G>T		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.321G>T	16.37:g.20429497G>T						ACSM5_uc002dhd.1_Silent_p.G107G	p.G107G	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			3	468	+			107					Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	ENST00000331849.4	37	c.321G>T	CCDS10585.1																																																																																				PASS	0.607	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		14	38	14	38	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20552086	20552086	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:20552086C>A	ENST00000329697.6	-	13	1687	c.1519G>T	c.(1519-1521)Gca>Tca	p.A507S	ACSM2B_ENST00000565232.1_Missense_Mutation_p.A507S|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A507S|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A428S	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	507					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.A507S(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATCACAAATGCCTTCACCACC	0.468																																						uc002dhj.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1519-1521)GCA>TCA		acyl-CoA synthetase medium-chain family member							177.0	157.0	164.0					16																	20552086		2202	4300	6502	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20552086C>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1519G>T	16.37:g.20552086C>A	ENSP00000327453:p.Ala507Ser					ACSM2B_uc002dhk.3_Missense_Mutation_p.A507S	p.A507S	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			14	1729	-			507					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1519G>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107403	0.56291	.	.	ENSG00000066813	ENST00000329697	T	0.73152	-0.72	3.44	3.44	0.39384	.	0.000000	0.49916	D	0.000132	D	0.90263	0.6955	H	0.99487	4.59	0.80722	D	1	P	0.49783	0.928	D	0.63877	0.919	D	0.94417	0.7637	10	0.87932	D	0	-5.0708	15.1098	0.72346	0.0:1.0:0.0:0.0	.	507	Q68CK6	ACS2B_HUMAN	S	507	ENSP00000327453:A507S	ENSP00000327453:A507S	A	-	1	0	ACSM2B	20459587	1.000000	0.71417	0.998000	0.56505	0.060000	0.15804	6.155000	0.71833	1.949000	0.56562	0.603000	0.83216	GCA		PASS	0.468	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		60	70	60	70	---	---	---	---
GGA2	23062	broad.mit.edu	37	16	23497395	23497395	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:23497395C>G	ENST00000309859.4	-	8	821	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	247	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)	p.E247Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		CTCAGCATCTCCTGCAGCACC	0.557																																						uc002dlq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(739-741)GAG>CAG		ADP-ribosylation factor binding protein 2							147.0	108.0	121.0					16																	23497395		2197	4300	6497	SO:0001583	missense	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23497395C>G	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.739G>C	16.37:g.23497395C>G	ENSP00000311962:p.Glu247Gln					GGA2_uc010bxo.1_RNA	p.E247Q	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	8	815	-			247			GAT.		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	c.739G>C	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626116	0.87560	.	.	ENSG00000103365	ENST00000309859	T	0.52983	0.64	6.07	6.07	0.98685	GAT (2);	0.052887	0.64402	D	0.000001	T	0.63414	0.2509	L	0.55481	1.735	0.80722	D	1	D	0.59767	0.986	P	0.62435	0.902	T	0.60311	-0.7288	10	0.51188	T	0.08	-34.9553	18.1378	0.89627	0.0:1.0:0.0:0.0	.	247	Q9UJY4	GGA2_HUMAN	Q	247	ENSP00000311962:E247Q	ENSP00000311962:E247Q	E	-	1	0	GGA2	23404896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.199000	0.58426	2.884000	0.98904	0.655000	0.94253	GAG		PASS	0.557	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			29	106	29	106	---	---	---	---
CACNG3	10368	broad.mit.edu	37	16	24373168	24373168	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:24373168G>C	ENST00000005284.3	+	4	2134	c.932G>C	c.(931-933)cGc>cCc	p.R311P		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	311					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.R311H(1)|p.R311P(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCCAACAGGCGCACCACGCCC	0.562																																						uc002dmf.2																			2	Substitution - Missense(2)		lung(2)		0						c.(931-933)CGC>CCC		voltage-dependent calcium channel gamma-3							46.0	47.0	47.0					16																	24373168		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24373168G>C	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.932G>C	16.37:g.24373168G>C	ENSP00000005284:p.Arg311Pro						p.R311P	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	2132	+			311						Missense_Mutation	SNP	ENST00000005284.3	37	c.932G>C	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	g	24.4	4.528609	0.85706	.	.	ENSG00000006116	ENST00000005284	T	0.64991	-0.13	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82643	-0.0356	10	0.87932	D	0	-12.9989	17.8078	0.88607	0.0:0.0:1.0:0.0	.	311	O60359	CCG3_HUMAN	P	311	ENSP00000005284:R311P	ENSP00000005284:R311P	R	+	2	0	CACNG3	24280669	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.472000	0.97709	2.266000	0.75297	0.645000	0.84053	CGC		PASS	0.562	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		27	32	27	32	---	---	---	---
NFATC2IP	84901	broad.mit.edu	37	16	28970122	28970122	+	Missense_Mutation	SNP	A	A	G	rs201303990	byFrequency	TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:28970122A>G	ENST00000320805.4	+	6	1006	c.931A>G	c.(931-933)Aca>Gca	p.T311A	RP11-264B17.2_ENST00000568057.1_RNA|NFATC2IP_ENST00000562977.1_3'UTR|RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000568148.1_Missense_Mutation_p.T19A|MIR4517_ENST00000578855.1_RNA|NFATC2IP_ENST00000564978.1_Missense_Mutation_p.T32A	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	311					cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T311A(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						TTTTGGAGAGACAGAGCTATC	0.582																																						uc002dru.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(931-933)ACA>GCA		nuclear factor of activated T-cells,							77.0	75.0	76.0					16																	28970122		2197	4300	6497	SO:0001583	missense	84901					cytoplasm|nucleus		g.chr16:28970122A>G	AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.931A>G	16.37:g.28970122A>G	ENSP00000324792:p.Thr311Ala					uc010vct.1_Intron|NFATC2IP_uc002drt.2_Missense_Mutation_p.T32A|NFATC2IP_uc002drv.2_Missense_Mutation_p.T30A|NFATC2IP_uc010vdh.1_Missense_Mutation_p.T19A	p.T311A	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN			6	946	+			311					B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Missense_Mutation	SNP	ENST00000320805.4	37	c.931A>G	CCDS10645.1	.	.	.	.	.	.	.	.	.	.	A	9.542	1.113751	0.20795	.	.	ENSG00000176953	ENST00000320805	T	0.21932	1.98	5.38	3.08	0.35506	Ubiquitin (1);	0.602447	0.16407	N	0.215797	T	0.12732	0.0309	L	0.34521	1.04	0.23594	N	0.997331	B;B	0.19583	0.037;0.0	B;B	0.12156	0.007;0.001	T	0.28073	-1.0055	10	0.18710	T	0.47	-2.4183	4.8517	0.13540	0.7206:0.0:0.2794:0.0	.	311;30	Q8NCF5;Q8NCF5-2	NF2IP_HUMAN;.	A	311	ENSP00000324792:T311A	ENSP00000324792:T311A	T	+	1	0	NFATC2IP	28877623	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.679000	0.46909	0.892000	0.36259	0.459000	0.35465	ACA		PASS	0.582	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2	NM_032815		52	52	52	52	---	---	---	---
ZNF747	65988	broad.mit.edu	37	16	30545881	30545881	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:30545881G>A	ENST00000252799.3	-	1	787	c.120C>T	c.(118-120)gcC>gcT	p.A40A	AC002310.13_ENST00000568114.1_Intron|AC002310.12_ENST00000457283.3_RNA|AC002310.12_ENST00000569752.1_RNA|ZNF747_ENST00000535210.1_Silent_p.A40A|ZNF747_ENST00000568028.1_Silent_p.A40A|ZNF747_ENST00000395094.3_Silent_p.A40A|ZNF747_ENST00000569360.1_Silent_p.A40A	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.A40A(1)		kidney(1)|lung(3)|prostate(1)	5						CGGCCACGTCGGCGAAGCTCA	0.731																																						uc002dyn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(118-120)GCC>GCT		zinc finger protein 747							13.0	15.0	14.0					16																	30545881		2182	4283	6465	SO:0001819	synonymous_variant	65988				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:30545881G>A	BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.120C>T	16.37:g.30545881G>A						ZNF768_uc010vex.1_5'UTR|ZNF747_uc002dyo.1_Silent_p.A40A|ZNF747_uc010vey.1_Silent_p.A40A|uc002dyp.1_5'Flank	p.A40A	NM_023931	NP_076420	Q9BV97	ZN747_HUMAN			1	314	-			40			KRAB.		A8K827|B7WNU3|Q59FB4|Q96NW0	Silent	SNP	ENST00000252799.3	37	c.120C>T	CCDS10682.1																																																																																				PASS	0.731	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255532.2	NM_023931		6	12	6	12	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30976331	30976331	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:30976331A>T	ENST00000262519.8	+	7	1954	c.1268A>T	c.(1267-1269)cAg>cTg	p.Q423L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	423	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.Q423L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCCACCGACCAGGACTACCGG	0.657																																						uc002ead.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1267-1269)CAG>CTG		SET domain containing 1A							28.0	35.0	33.0					16																	30976331		2192	4291	6483	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30976331A>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1268A>T	16.37:g.30976331A>T	ENSP00000262519:p.Gln423Leu						p.Q423L	NM_014712	NP_055527	O15047	SET1A_HUMAN			7	1954	+			423			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.1268A>T	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	A	11.14	1.550067	0.27652	.	.	ENSG00000099381	ENST00000262519	D	0.94184	-3.37	5.64	5.64	0.86602	.	0.439796	0.23317	N	0.049492	D	0.88119	0.6351	N	0.25647	0.755	0.25808	N	0.984434	B	0.18166	0.026	B	0.16289	0.015	T	0.79533	-0.1764	10	0.44086	T	0.13	.	12.254	0.54613	1.0:0.0:0.0:0.0	.	423	O15047	SET1A_HUMAN	L	423	ENSP00000262519:Q423L	ENSP00000262519:Q423L	Q	+	2	0	SETD1A	30883832	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	3.622000	0.54217	2.139000	0.66308	0.459000	0.35465	CAG		PASS	0.657	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		42	47	42	47	---	---	---	---
ITGAM	3684	broad.mit.edu	37	16	31335990	31335990	+	Missense_Mutation	SNP	G	G	C	rs370936973		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:31335990G>C	ENST00000287497.8	+	18	2251	c.2176G>C	c.(2176-2178)Gtg>Ctg	p.V726L	ITGAM_ENST00000544665.3_Missense_Mutation_p.V727L			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	726					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.V726L(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CGAGGACCCAGTGAGCCCCAT	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15611	0.0		0.0	False		,,,				2504	0.0					uc002ebq.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(2176-2178)GTG>CTG		integrin alpha M isoform 2 precursor		G	LEU/VAL,LEU/VAL	1,3963		0,1,1981	49.0	51.0	51.0		2179,2176	3.7	0.1	16		51	0,8296		0,0,4148	no	missense,missense	ITGAM	NM_001145808.1,NM_000632.3	32,32	0,1,6129	CC,CG,GG		0.0,0.0252,0.0082	benign,benign	727/1154,726/1153	31335990	1,12259	1982	4148	6130	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31335990G>C	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2176G>C	16.37:g.31335990G>C	ENSP00000287497:p.Val726Leu					ITGAM_uc002ebr.2_Missense_Mutation_p.V727L|ITGAM_uc010can.2_Missense_Mutation_p.V132L|ITGAM_uc002ebs.1_Missense_Mutation_p.V132L|ITGAM_uc010vfj.1_5'Flank	p.V726L	NM_000632	NP_000623	P11215	ITAM_HUMAN			18	2274	+			726			Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.2176G>C	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	8.501	0.864227	0.17250	2.52E-4	0.0	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.38560	1.13;1.13	4.64	3.68	0.42216	Integrin alpha-2 (1);	.	.	.	.	T	0.40222	0.1108	M	0.67625	2.065	0.09310	N	0.999997	B;B;B	0.22746	0.074;0.028;0.028	B;B;B	0.26517	0.07;0.045;0.045	T	0.35101	-0.9802	9	0.42905	T	0.14	.	6.3778	0.21517	0.0991:0.1858:0.715:0.0	.	132;726;726	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	L	727;726	ENSP00000441691:V727L;ENSP00000287497:V726L	ENSP00000287497:V726L	V	+	1	0	ITGAM	31243491	0.981000	0.34729	0.071000	0.20095	0.004000	0.04260	1.657000	0.37366	1.155000	0.42497	0.563000	0.77884	GTG		PASS	0.597	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		6	24	6	24	---	---	---	---
ABCC12	94160	broad.mit.edu	37	16	48149463	48149463	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:48149463A>G	ENST00000311303.3	-	13	2197	c.1852T>C	c.(1852-1854)Tac>Cac	p.Y618H	ABCC12_ENST00000416054.1_Silent_p.S593S|ABCC12_ENST00000448542.1_Missense_Mutation_p.Y618H	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	618	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.Y618H(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CGGTCGGAGTAGACAGCGCGG	0.622																																						uc002efc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1852-1854)TAC>CAC		ATP-binding cassette protein C12							75.0	67.0	70.0					16																	48149463		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48149463A>G	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1852T>C	16.37:g.48149463A>G	ENSP00000311030:p.Tyr618His					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	p.Y618H	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			13	2198	-		all_cancers(37;0.0474)|all_lung(18;0.047)	618			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.1852T>C	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286463	0.59867	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	D;D	0.84800	-1.9;-1.9	5.09	5.09	0.68999	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.94241	0.8151	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95634	0.8692	10	0.87932	D	0	.	14.1645	0.65469	1.0:0.0:0.0:0.0	.	618	Q96J65	MRP9_HUMAN	H	618;618;560	ENSP00000311030:Y618H;ENSP00000401855:Y618H	ENSP00000311030:Y618H	Y	-	1	0	ABCC12	46706964	1.000000	0.71417	0.988000	0.46212	0.019000	0.09904	8.900000	0.92551	2.034000	0.60081	0.460000	0.39030	TAC		PASS	0.622	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		18	31	18	31	---	---	---	---
RBL2	5934	broad.mit.edu	37	16	53473056	53473056	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:53473056G>C	ENST00000262133.6	+	2	506	c.369G>C	c.(367-369)caG>caC	p.Q123H		NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	123					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.Q123H(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTTCAGAGCAGAGGTAACTAT	0.353																																						uc002ehi.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(367-369)CAG>CAC		retinoblastoma-like 2 (p130)							92.0	86.0	88.0					16																	53473056		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53473056G>C	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.369G>C	16.37:g.53473056G>C	ENSP00000262133:p.Gln123His					RBL2_uc010vgv.1_Missense_Mutation_p.Q49H	p.Q123H	NM_005611	NP_005602	Q08999	RBL2_HUMAN			2	487	+			123					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.369G>C	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702803	0.68501	.	.	ENSG00000103479	ENST00000262133;ENST00000544405	T;T	0.73575	-0.76;-0.76	5.83	-0.761	0.11038	Domain of unknown function DUF3452, retinoblastoma-associated (1);Cyclin-like (1);	0.131452	0.50627	D	0.000110	T	0.75302	0.3831	L	0.44542	1.39	0.80722	D	1	D;D	0.56287	0.973;0.975	P;P	0.59115	0.852;0.766	T	0.73830	-0.3859	10	0.87932	D	0	-11.5991	11.2635	0.49097	0.5249:0.0:0.4751:0.0	.	123;123	Q8NE70;Q08999	.;RBL2_HUMAN	H	123;49	ENSP00000262133:Q123H;ENSP00000443744:Q49H	ENSP00000262133:Q123H	Q	+	3	2	RBL2	52030557	1.000000	0.71417	0.985000	0.45067	0.966000	0.64601	1.191000	0.32138	-0.335000	0.08451	-0.157000	0.13467	CAG		PASS	0.353	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		12	33	12	33	---	---	---	---
WWP2	11060	broad.mit.edu	37	16	69973306	69973306	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:69973306A>G	ENST00000359154.2	+	23	2604	c.2503A>G	c.(2503-2505)Agc>Ggc	p.S835G	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Missense_Mutation_p.S719G|WWP2_ENST00000356003.2_Missense_Mutation_p.S835G|WWP2_ENST00000448661.1_Missense_Mutation_p.S835G|WWP2_ENST00000568684.1_Missense_Mutation_p.S396G	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	835	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.S835G(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTGCCCAGAAGCCACACCTG	0.567																																						uc002exu.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|breast(1)|skin(1)	6						c.(2503-2505)AGC>GGC		WW domain containing E3 ubiquitin protein ligase							66.0	62.0	64.0					16																	69973306		2198	4300	6498	SO:0001583	missense	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69973306A>G	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2503A>G	16.37:g.69973306A>G	ENSP00000352069:p.Ser835Gly					WWP2_uc002exv.1_Missense_Mutation_p.S835G|WWP2_uc010vlm.1_Missense_Mutation_p.S719G|WWP2_uc010vln.1_Missense_Mutation_p.S453G|WWP2_uc002exw.1_Missense_Mutation_p.S396G	p.S835G	NM_007014	NP_008945	O00308	WWP2_HUMAN			24	2592	+			835			HECT.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	c.2503A>G	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.558451	0.86231	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.24	4.14	0.48551	HECT (4);	0.000000	0.85682	D	0.000000	T	0.73497	0.3594	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77867	-0.2428	9	.	.	.	.	10.9685	0.47426	0.9262:0.0:0.0738:0.0	.	835	O00308	WWP2_HUMAN	G	835;835;835;722;719	ENSP00000352069:S835G;ENSP00000396871:S835G;ENSP00000348283:S835G;ENSP00000445616:S719G	.	S	+	1	0	WWP2	68530807	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.274000	0.95731	0.821000	0.34540	0.459000	0.35465	AGC		PASS	0.567	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		24	41	24	41	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76573654	76573654	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:76573654G>T	ENST00000476707.1	+	19	3407	c.3268G>T	c.(3268-3270)Gag>Tag	p.E1090*	CNTNAP4_ENST00000307431.8_Nonsense_Mutation_p.E1086*|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.E1014*|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.E1038*			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1087	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.E1014*(2)|p.E1086*(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TAAATATCAAGAGCCTGATGT	0.343																																						uc002feu.1																			4	Substitution - Nonsense(4)		lung(4)	ovary(1)|pancreas(1)	2						c.(3259-3261)GAG>TAG		cell recognition protein CASPR4 isoform 1							73.0	75.0	74.0					16																	76573654		2018	4236	6254	SO:0001587	stop_gained	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76573654G>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3268G>T	16.37:g.76573654G>T	ENSP00000417628:p.Glu1090*					CNTNAP4_uc002fev.1_Nonsense_Mutation_p.E951*|CNTNAP4_uc010chb.1_Nonsense_Mutation_p.E1014*|CNTNAP4_uc002fex.1_Nonsense_Mutation_p.E1090*	p.E1087*	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			22	3644	+			1087			Extracellular (Potential).|Laminin G-like 4.		E9PFZ6|Q86YZ7	Nonsense_Mutation	SNP	ENST00000476707.1	37	c.3259G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.900956	0.98551	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	.	.	.	5.03	4.06	0.47325	.	0.164268	0.28409	N	0.015450	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	15.9361	0.79707	0.0:0.1353:0.8647:0.0	.	.	.	.	X	1086;1038;1014;1090	.	ENSP00000306893:E1086X	E	+	1	0	CNTNAP4	75131155	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.064000	0.71169	1.465000	0.48006	0.650000	0.86243	GAG		PASS	0.343	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		19	46	19	46	---	---	---	---
MON1B	22879	broad.mit.edu	37	16	77228906	77228906	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:77228906G>T	ENST00000248248.3	+	4	1500	c.1150G>T	c.(1150-1152)Ggg>Tgg	p.G384W	MON1B_ENST00000439557.2_Missense_Mutation_p.G275W|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000545553.1_Missense_Mutation_p.G238W	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	384								p.G384W(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCGTGCCCTTGGGGAGGCTGC	0.647																																						uc002fez.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1150-1152)GGG>TGG		MON1 homolog B							43.0	38.0	40.0					16																	77228906		2198	4300	6498	SO:0001583	missense	22879						protein binding	g.chr16:77228906G>T	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1150G>T	16.37:g.77228906G>T	ENSP00000248248:p.Gly384Trp					MON1B_uc010vnf.1_Missense_Mutation_p.G275W|MON1B_uc010vng.1_Missense_Mutation_p.G238W|MON1B_uc002ffa.2_Missense_Mutation_p.G264W	p.G384W	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN			4	1480	+			384					B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	37	c.1150G>T	CCDS10925.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615501	0.46631	.	.	ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553	.	.	.	4.04	2.02	0.26589	.	0.405077	0.26140	N	0.026113	T	0.63640	0.2528	L	0.54323	1.7	0.54753	D	0.999989	P;D;D;D	0.63046	0.938;0.992;0.986;0.99	P;P;P;P	0.62014	0.65;0.897;0.897;0.733	T	0.62854	-0.6766	9	0.72032	D	0.01	.	7.0178	0.24897	0.1053:0.1757:0.719:0.0	.	238;275;264;384	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2	.;.;.;MON1B_HUMAN	W	384;275;238	.	ENSP00000248248:G384W	G	+	1	0	MON1B	75786407	0.000000	0.05858	0.309000	0.25155	0.702000	0.40608	0.005000	0.13129	0.628000	0.30357	0.563000	0.77884	GGG		PASS	0.647	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		17	21	17	21	---	---	---	---
KCNG4	93107	broad.mit.edu	37	16	84270496	84270496	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:84270496C>T	ENST00000308251.4	-	2	664	c.596G>A	c.(595-597)cGc>cAc	p.R199H	KCNG4_ENST00000568181.1_Missense_Mutation_p.R199H	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	199					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R199H(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CAGGCCCCAGCGCGAGGAGTG	0.677																																						uc010voc.1																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(595-597)CGC>CAC		potassium voltage-gated channel, subfamily G,							24.0	26.0	25.0					16																	84270496		2198	4296	6494	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270496C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.596G>A	16.37:g.84270496C>T	ENSP00000312129:p.Arg199His					KCNG4_uc002fhu.1_Missense_Mutation_p.R199H	p.R199H	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN			2	717	-			199					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.596G>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626564	0.46840	.	.	ENSG00000168418	ENST00000308251	D	0.96885	-4.16	5.11	5.11	0.69529	.	1.589340	0.03265	N	0.183811	D	0.98102	0.9374	M	0.86268	2.805	0.23192	N	0.998146	B;D	0.89917	0.347;1.0	B;D	0.63113	0.037;0.911	D	0.88217	0.2894	10	0.41790	T	0.15	.	9.458	0.38767	0.0:0.8371:0.0:0.1629	.	199;199	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	H	199	ENSP00000312129:R199H	ENSP00000312129:R199H	R	-	2	0	KCNG4	82827997	0.998000	0.40836	0.982000	0.44146	0.777000	0.43975	1.183000	0.32041	2.364000	0.80123	0.549000	0.68633	CGC		PASS	0.677	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		11	30	11	30	---	---	---	---
JPH3	57338	broad.mit.edu	37	16	87636784	87636784	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr16:87636784A>T	ENST00000284262.2	+	1	274	c.32A>T	c.(31-33)gAc>gTc	p.D11V	RP11-482M8.3_ENST00000602388.1_RNA	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	11	Gly-rich.				calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)	p.D11V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AATTTTGACGACGGAGGGTCC	0.617																																						uc002fkd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(31-33)GAC>GTC		junctophilin 3							67.0	69.0	68.0					16																	87636784		2198	4300	6498	SO:0001583	missense	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87636784A>T	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.32A>T	16.37:g.87636784A>T	ENSP00000284262:p.Asp11Val					JPH3_uc010vou.1_Intron	p.D11V	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	1	286	+			11			Gly-rich.|Cytoplasmic (Potential).		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	c.32A>T	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	a	23.2	4.382115	0.82792	.	.	ENSG00000154118	ENST00000301008;ENST00000284262	T	0.52983	0.64	3.92	3.92	0.45320	.	0.000000	0.85682	U	0.000000	T	0.78000	0.4215	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.84714	0.0736	10	0.87932	D	0	.	11.9402	0.52896	1.0:0.0:0.0:0.0	.	11	Q8WXH2	JPH3_HUMAN	V	11	ENSP00000284262:D11V	ENSP00000284262:D11V	D	+	2	0	JPH3	86194285	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.568000	0.90741	1.407000	0.46875	0.248000	0.18094	GAC		PASS	0.617	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			29	60	29	60	---	---	---	---
OR3A1	4994	broad.mit.edu	37	17	3195614	3195614	+	Missense_Mutation	SNP	A	A	G	rs149271851		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:3195614A>G	ENST00000323404.1	-	1	262	c.263T>C	c.(262-264)cTc>cCc	p.L88P	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	88					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L88P(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GCGGGACAGGAGACGACTCAA	0.562																																					GBM(20;287 516 18743 28660 36594)	uc002fvh.1																			1	Substitution - Missense(1)		lung(1)	kidney(2)|central_nervous_system(1)	3						c.(262-264)CTC>CCC		olfactory receptor, family 3, subfamily A,		A	PRO/LEU	1,4405	2.1+/-5.4	0,1,2202	94.0	75.0	81.0		263	5.3	0.6	17	dbSNP_134	81	0,8600		0,0,4300	no	missense	OR3A1	NM_002550.2	98	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	88/316	3195614	1,13005	2203	4300	6503	SO:0001583	missense	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195614A>G	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.263T>C	17.37:g.3195614A>G	ENSP00000313803:p.Leu88Pro						p.L88P	NM_002550	NP_002541	P47881	OR3A1_HUMAN			1	263	-			88			Extracellular (Potential).		Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	c.263T>C	CCDS11023.1	.	.	.	.	.	.	.	.	.	.	A	9.896	1.205474	0.22205	2.27E-4	0.0	ENSG00000180090	ENST00000323404	T	0.00411	7.53	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000468	T	0.00784	0.0026	M	0.93678	3.445	0.52099	D	0.999948	B	0.31227	0.314	B	0.30105	0.111	T	0.49041	-0.8980	10	0.72032	D	0.01	-38.7861	14.2326	0.65903	1.0:0.0:0.0:0.0	.	88	P47881	OR3A1_HUMAN	P	88	ENSP00000313803:L88P	ENSP00000313803:L88P	L	-	2	0	OR3A1	3142364	0.576000	0.26700	0.638000	0.29380	0.141000	0.21300	5.601000	0.67606	2.223000	0.72356	0.528000	0.53228	CTC		PASS	0.562	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			34	21	34	21	---	---	---	---
ZNF232	7775	broad.mit.edu	37	17	5009781	5009781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:5009781C>A	ENST00000250076.3	-	5	1327	c.673G>T	c.(673-675)Gag>Tag	p.E225*	ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575538.1_5'UTR|ZNF232_ENST00000575898.1_Nonsense_Mutation_p.E216*	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	198					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.E225*(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TCCTTGGGCTCTGGGCCATCT	0.388																																						uc002gas.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(592-594)GAG>TAG		zinc finger protein 232							80.0	76.0	77.0					17																	5009781		2203	4300	6503	SO:0001587	stop_gained	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5009781C>A	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.673G>T	17.37:g.5009781C>A	ENSP00000250076:p.Glu225*					ZNF232_uc002gar.1_Nonsense_Mutation_p.E216*|ZNF232_uc002gat.2_Nonsense_Mutation_p.E225*	p.E198*	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN			5	1346	-			198						Nonsense_Mutation	SNP	ENST00000250076.3	37	c.592G>T	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772311	0.49680	.	.	ENSG00000167840	ENST00000250076	.	.	.	3.0	2.0	0.26442	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	7.956	0.30042	0.0:0.7457:0.2543:0.0	.	.	.	.	X	225	.	ENSP00000250076:E225X	E	-	1	0	ZNF232	4950505	0.001000	0.12720	0.447000	0.26932	0.995000	0.86356	0.008000	0.13197	0.802000	0.34089	0.561000	0.74099	GAG		PASS	0.388	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		45	26	45	26	---	---	---	---
USP6	9098	broad.mit.edu	37	17	5072240	5072240	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:5072240T>G	ENST00000574788.1	+	35	5637	c.3407T>G	c.(3406-3408)cTg>cGg	p.L1136R	USP6_ENST00000304328.5_Missense_Mutation_p.L819R|USP6_ENST00000250066.6_Missense_Mutation_p.L1136R|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1136	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.L1136R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCCAGGATTCTGGCAAGAGAG	0.542			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(3406-3408)CTG>CGG		ubiquitin specific protease 6							78.0	84.0	82.0					17																	5072240		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5072240T>G	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.3407T>G	17.37:g.5072240T>G	ENSP00000460380:p.Leu1136Arg					USP6_uc002gav.1_Missense_Mutation_p.L1136R|USP6_uc010ckz.1_Missense_Mutation_p.L819R	p.L1136R	NM_004505	NP_004496	P35125	UBP6_HUMAN			35	5637	+			1136					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.3407T>G	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.743064	0.00675	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.14022	2.94;2.54	2.35	0.215	0.15253	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.749808	0.13458	N	0.386402	T	0.06917	0.0176	N	0.19112	0.55	0.09310	N	1	B;B	0.12630	0.006;0.002	B;B	0.09377	0.002;0.004	T	0.41088	-0.9528	10	0.18276	T	0.48	.	5.8749	0.18824	0.0:0.6735:0.0:0.3265	.	819;1136	P35125-2;P35125	.;UBP6_HUMAN	R	1136;819	ENSP00000250066:L1136R;ENSP00000305473:L819R	ENSP00000250066:L1136R	L	+	2	0	USP6	5012964	0.000000	0.05858	0.009000	0.14445	0.105000	0.19272	-0.362000	0.07602	0.312000	0.23038	0.155000	0.16302	CTG		PASS	0.542	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		89	49	89	49	---	---	---	---
YBX2	51087	broad.mit.edu	37	17	7193680	7193680	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:7193680G>A	ENST00000007699.5	-	5	697	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	212	Pro-rich.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)	p.R212W(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TCTTCAGCCCGCTCCCCTTTA	0.677																																						uc002gfq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)CGG>TGG		Y box binding protein 2							47.0	56.0	53.0					17																	7193680		2199	4291	6490	SO:0001583	missense	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7193680G>A	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.634C>T	17.37:g.7193680G>A	ENSP00000007699:p.Arg212Trp						p.R212W	NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN			5	691	-			212			Pro-rich.		D3DTP1|Q8N4P0	Missense_Mutation	SNP	ENST00000007699.5	37	c.634C>T	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.707988	0.48412	.	.	ENSG00000006047	ENST00000007699	T	0.25414	1.8	4.52	2.43	0.29744	.	0.256570	0.33980	N	0.004379	T	0.20088	0.0483	L	0.46157	1.445	0.30860	N	0.733618	B	0.30709	0.291	B	0.18871	0.023	T	0.14839	-1.0458	10	0.72032	D	0.01	-7.7377	10.561	0.45146	0.0:0.0:0.4928:0.5072	.	212	Q9Y2T7	YBOX2_HUMAN	W	212	ENSP00000007699:R212W	ENSP00000007699:R212W	R	-	1	2	YBX2	7134404	0.879000	0.30193	0.967000	0.41034	0.884000	0.51177	0.299000	0.19138	0.603000	0.29913	0.561000	0.74099	CGG		PASS	0.677	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		62	37	62	37	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578177	7578177	+	Splice_Site	SNP	C	C	T	rs267605076		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:7578177C>T	ENST00000269305.4	-	6	861	c.672G>A	c.(670-672)gaG>gaA	p.E224E	TP53_ENST00000445888.2_Splice_Site_p.E224E|TP53_ENST00000413465.2_Splice_Site_p.E224E|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Splice_Site_p.E224E|TP53_ENST00000420246.2_Splice_Site_p.E224E|TP53_ENST00000359597.4_Splice_Site_p.E224E	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	224	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E224D(20)|p.?(13)|p.E224E(12)|p.0?(8)|p.E131D(3)|p.E131E(2)|p.V218_E224delVPYEPPE(1)|p.V225fs*24(1)|p.E224_V225insXX(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)	CAAACCAGACCTCAGGCGGCT	0.532		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		61	Substitution - Missense(23)|Substitution - coding silent(14)|Unknown(13)|Whole gene deletion(8)|Deletion - In frame(1)|Insertion - Frameshift(1)|Insertion - In frame(1)	p.E224D(11)|p.0?(7)|p.E224E(6)|p.E224K(5)|p.E224*(4)|p.?(3)|p.E224G(2)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.E224fs*23(1)|p.V225fs*24(1)|p.E224fs*24(1)|p.E224_V225insXX(1)	lung(23)|large_intestine(7)|bone(6)|biliary_tract(5)|endometrium(5)|oesophagus(3)|breast(3)|stomach(2)|central_nervous_system(2)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|ovary(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(670-672)GAG>GAA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							81.0	76.0	78.0					17																	7578177		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:7578177C>T	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.672+1G>A	17.37:g.7578177C>T		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_Silent_p.E224E|TP53_uc002gih.2_Silent_p.E224E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Silent_p.E92E|TP53_uc010cng.1_Silent_p.E92E|TP53_uc002gii.1_Silent_p.E92E|TP53_uc010cnh.1_Silent_p.E224E|TP53_uc010cni.1_Silent_p.E224E|TP53_uc002gij.2_Silent_p.E224E|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Silent_p.E131E|TP53_uc002gio.2_Silent_p.E92E|TP53_uc010vug.1_Silent_p.E185E	p.E224E	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	866	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	224		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	ENST00000269305.4	37	c.672G>A	CCDS11118.1																																																																																				PASS	0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	19	7	19	7	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7798755	7798755	+	Silent	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:7798755A>T	ENST00000330494.7	+	10	1752	c.1602A>T	c.(1600-1602)ccA>ccT	p.P534P	CHD3_ENST00000358181.4_Silent_p.P534P|CHD3_ENST00000380358.4_Silent_p.P593P	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	534	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P534P(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATGGAAATCCAGATGTCCCAC	0.592																																						uc002gje.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1600-1602)CCA>CCT		chromodomain helicase DNA binding protein 3							128.0	102.0	111.0					17																	7798755		2203	4300	6503	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7798755A>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1602A>T	17.37:g.7798755A>T						CHD3_uc002gjd.2_Silent_p.P593P|CHD3_uc002gjf.2_Silent_p.P534P|CHD3_uc002gjg.1_Silent_p.P362P	p.P534P	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			10	1752	+		Prostate(122;0.202)	534			Chromo 1.		D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.1602A>T	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	A	1.036	-0.680331	0.03353	.	.	ENSG00000170004	ENST00000452447	.	.	.	5.25	-10.5	0.00291	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2371	1.8141	0.03096	0.2593:0.1525:0.3482:0.24	.	.	.	.	X	405	.	.	R	+	1	2	CHD3	7739480	0.000000	0.05858	0.613000	0.29037	0.061000	0.15899	-3.213000	0.00555	-1.680000	0.01450	-0.527000	0.04329	AGA		PASS	0.592	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		70	38	70	38	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11666833	11666833	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:11666833A>G	ENST00000262442.4	+	36	7140	c.7072A>G	c.(7072-7074)Acg>Gcg	p.T2358A	DNAH9_ENST00000454412.2_Missense_Mutation_p.T2358A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2358					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.T2358A(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTCCTGACCACGGAGGACAT	0.502																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(7072-7074)ACG>GCG		dynein, axonemal, heavy chain 9 isoform 2							146.0	135.0	139.0					17																	11666833		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11666833A>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7072A>G	17.37:g.11666833A>G	ENSP00000262442:p.Thr2358Ala					DNAH9_uc010coo.2_Missense_Mutation_p.T1652A	p.T2358A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	36	7140	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2358					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7072A>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	8.393	0.840091	0.16891	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.24908	1.83;1.83	4.65	-2.12	0.07165	.	0.634340	0.16558	N	0.209176	T	0.09113	0.0225	N	0.02916	-0.46	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.22556	-1.0213	10	0.62326	D	0.03	.	7.0033	0.24821	0.5215:0.1202:0.3582:0.0	.	2358	Q9NYC9	DYH9_HUMAN	A	2358;2358;940	ENSP00000262442:T2358A;ENSP00000414874:T2358A	ENSP00000262442:T2358A	T	+	1	0	DNAH9	11607558	0.000000	0.05858	0.027000	0.17364	0.490000	0.33462	-0.029000	0.12329	-0.266000	0.09339	-0.256000	0.11100	ACG		PASS	0.502	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		79	37	79	37	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12626289	12626289	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:12626289C>G	ENST00000343344.4	+	5	379	c.379C>G	c.(379-381)Ctt>Gtt	p.L127V	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Missense_Mutation_p.L127V|AC005358.1_ENST00000609971.1_Missense_Mutation_p.L31V			Q8IZQ8	MYCD_HUMAN	myocardin	127					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.L127V(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AAAAAACATTCTTCCTGTGGA	0.483																																						uc002gnn.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(379-381)CTT>GTT		myocardin isoform 2							126.0	129.0	128.0					17																	12626289		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12626289C>G	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.379C>G	17.37:g.12626289C>G	ENSP00000341835:p.Leu127Val					MYOCD_uc002gno.2_Missense_Mutation_p.L127V|MYOCD_uc002gnp.1_Missense_Mutation_p.L31V	p.L127V	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	5	678	+			127			RPEL 3.		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.379C>G	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111934	0.37242	.	.	ENSG00000141052	ENST00000425538;ENST00000343344;ENST00000395988	T	0.68181	-0.31	5.33	2.0	0.26442	.	0.270380	0.31145	N	0.008179	T	0.65091	0.2658	M	0.84082	2.675	0.39133	D	0.961885	P;B;B	0.38729	0.644;0.077;0.074	B;B;B	0.32864	0.154;0.041;0.027	T	0.73157	-0.4071	10	0.72032	D	0.01	-15.0546	12.7155	0.57113	0.6475:0.3525:0.0:0.0	.	31;127;127	Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	V	127;127;31	ENSP00000341835:L127V	ENSP00000341835:L127V	L	+	1	0	MYOCD	12567014	0.951000	0.32395	0.980000	0.43619	0.989000	0.77384	0.638000	0.24674	0.769000	0.33313	0.561000	0.74099	CTT		PASS	0.483	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		85	60	85	60	---	---	---	---
NOS2	4843	broad.mit.edu	37	17	26110057	26110057	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:26110057C>A	ENST00000313735.6	-	6	776	c.543G>T	c.(541-543)ctG>ctT	p.L181L		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	181					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.L181L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CATCTCCCGTCAGTTGGTAGG	0.547																																						uc002gzu.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(541-543)CTG>CTT		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						277.0	192.0	221.0					17																	26110057		2203	4300	6503	SO:0001819	synonymous_variant	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26110057C>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.543G>T	17.37:g.26110057C>A						NOS2_uc010crh.1_Silent_p.L181L|NOS2_uc010wab.1_Silent_p.L181L	p.L181L	NM_000625	NP_000616	P35228	NOS2_HUMAN			6	807	-			181					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	c.543G>T	CCDS11223.1																																																																																				PASS	0.547	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		44	90	44	90	---	---	---	---
SLC46A1	113235	broad.mit.edu	37	17	26732154	26732154	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:26732154G>T	ENST00000440501.1	-	2	656	c.561C>A	c.(559-561)agC>agA	p.S187R	SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Missense_Mutation_p.S187R|CTD-2350C19.1_ENST00000583956.1_RNA|CTD-2350C19.2_ENST00000580714.1_RNA	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	187					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)	p.S187R(1)		lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	CCACCCCGATGCTGGCTTCCA	0.662																																						uc002hbf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(559-561)AGC>AGA		proton-coupled folate transporter	Folic Acid(DB00158)						16.0	21.0	19.0					17																	26732154		2056	4191	6247	SO:0001583	missense	113235				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity	g.chr17:26732154G>T	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.561C>A	17.37:g.26732154G>T	ENSP00000395653:p.Ser187Arg					SLC46A1_uc002hbg.1_Missense_Mutation_p.S187R|SLC46A1_uc010wak.1_Missense_Mutation_p.S187R	p.S187R	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	657	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		187			Helical; (Potential).		Q1HE20|Q86T92|Q8TEG3|Q96FL0	Missense_Mutation	SNP	ENST00000440501.1	37	c.561C>A		.	.	.	.	.	.	.	.	.	.	G	14.24	2.476376	0.44044	.	.	ENSG00000076351	ENST00000440501;ENST00000321666	T;T	0.59083	0.29;0.29	5.26	5.26	0.73747	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.040661	0.85682	D	0.000000	T	0.56217	0.1970	.	.	.	0.35004	D	0.756282	P;P;B	0.44006	0.718;0.824;0.347	P;P;B	0.46629	0.461;0.522;0.335	T	0.63567	-0.6608	9	0.28530	T	0.3	-20.6264	13.5426	0.61684	0.075:0.0:0.925:0.0	.	187;187;187	B4DJ17;Q96NT5-2;Q96NT5	.;.;PCFT_HUMAN	R	187	ENSP00000395653:S187R;ENSP00000318828:S187R	ENSP00000318828:S187R	S	-	3	2	SLC46A1	23756281	1.000000	0.71417	0.999000	0.59377	0.459000	0.32528	2.936000	0.48971	2.631000	0.89168	0.462000	0.41574	AGC		PASS	0.662	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		10	29	10	29	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27010298	27010298	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:27010298G>A	ENST00000314616.6	+	16	2174	c.1891G>A	c.(1891-1893)Gcc>Acc	p.A631T	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A631T	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	631	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A631T(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGTGGATGAGGCCCACTATGC	0.507																																						uc002hby.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1891-1893)GCC>ACC		suppressor of Ty 6 homolog							79.0	73.0	75.0					17																	27010298		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27010298G>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1891G>A	17.37:g.27010298G>A	ENSP00000319104:p.Ala631Thr					SUPT6H_uc010crt.2_Missense_Mutation_p.A631T	p.A631T	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			16	1981	+	Lung NSC(42;0.00431)		631					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.1891G>A	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	9.211	1.031006	0.19590	.	.	ENSG00000109111	ENST00000314616	T	0.42513	0.97	5.73	5.73	0.89815	Tex-like domain (1);	0.000000	0.85682	D	0.000000	T	0.33118	0.0852	N	0.24115	0.695	0.80722	D	1	B	0.17667	0.023	B	0.14578	0.011	T	0.07028	-1.0794	10	0.21540	T	0.41	-15.48	19.8991	0.96978	0.0:0.0:1.0:0.0	.	631	Q7KZ85	SPT6H_HUMAN	T	631	ENSP00000319104:A631T	ENSP00000319104:A631T	A	+	1	0	SUPT6H	24034425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.359000	0.97115	2.708000	0.92522	0.655000	0.94253	GCC		PASS	0.507	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		48	59	48	59	---	---	---	---
FAM222B	55731	broad.mit.edu	37	17	27086441	27086441	+	Missense_Mutation	SNP	G	G	A	rs529852734		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:27086441G>A	ENST00000341217.5	-	3	751	c.536C>T	c.(535-537)cCg>cTg	p.P179L	FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000582059.1_3'UTR|FAM222B_ENST00000581407.1_Missense_Mutation_p.P179L|FAM222B_ENST00000452648.3_Missense_Mutation_p.P179L|FAM222B_ENST00000583953.1_3'UTR	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	179	Gln-rich.							p.P179L(2)									CTGGGGTGGCGGGATACCCTG	0.711													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15207	0.0		0.0	False		,,,				2504	0.0					uc002hct.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(535-537)CCG>CTG		hypothetical protein LOC55731							8.0	10.0	10.0					17																	27086441		2023	4151	6174	SO:0001583	missense	55731							g.chr17:27086441G>A	AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.536C>T	17.37:g.27086441G>A	ENSP00000343115:p.Pro179Leu					C17orf63_uc010wax.1_Missense_Mutation_p.P179L|C17orf63_uc010way.1_Missense_Mutation_p.P179L|C17orf63_uc002hcw.2_Missense_Mutation_p.P51L	p.P179L	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104)		3	803	-	all_epithelial(6;5.06e-20)|Lung NSC(42;0.01)		179			Gln-rich.		Q9H6F3|Q9NVJ4|Q9NXN6	Missense_Mutation	SNP	ENST00000341217.5	37	c.536C>T	CCDS45637.1	.	.	.	.	.	.	.	.	.	.	G	6.893	0.534231	0.13188	.	.	ENSG00000173065	ENST00000341217;ENST00000452648	T;T	0.33865	1.39;1.39	4.56	2.57	0.30868	.	0.262138	0.37304	N	0.002159	T	0.23133	0.0559	N	0.24115	0.695	0.54753	D	0.999987	B	0.09022	0.002	B	0.04013	0.001	T	0.04495	-1.0947	10	0.46703	T	0.11	-0.8947	9.6138	0.39679	0.1696:0.0:0.8304:0.0	.	179	Q8WU58	CQ063_HUMAN	L	179	ENSP00000343115:P179L;ENSP00000413645:P179L	ENSP00000343115:P179L	P	-	2	0	C17orf63	24110568	0.941000	0.31946	0.998000	0.56505	0.930000	0.56654	1.751000	0.38339	0.528000	0.28580	-0.140000	0.14226	CCG		PASS	0.711	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446703.1	NM_018182		9	16	9	16	---	---	---	---
RHOT1	55288	broad.mit.edu	37	17	30520215	30520215	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:30520215A>G	ENST00000333942.6	+	10	939	c.700A>G	c.(700-702)Aga>Gga	p.R234G	RHOT1_ENST00000354266.3_Missense_Mutation_p.R213G|RHOT1_ENST00000394692.2_Missense_Mutation_p.R234G|RHOT1_ENST00000583994.1_Missense_Mutation_p.R107G|RHOT1_ENST00000545287.2_Missense_Mutation_p.R234G|RHOT1_ENST00000358365.3_Missense_Mutation_p.R234G|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000581094.1_Missense_Mutation_p.R234G	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	234					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R234G(1)		NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GAATGTAGTCAGAAAACATAT	0.358																																						uc002hgz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(700-702)AGA>GGA		ras homolog gene family, member T1 isoform 3							94.0	90.0	92.0					17																	30520215		2203	4300	6503	SO:0001583	missense	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30520215A>G	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.700A>G	17.37:g.30520215A>G	ENSP00000334724:p.Arg234Gly					RHOT1_uc002hgw.2_Missense_Mutation_p.R234G|RHOT1_uc002hgy.2_Missense_Mutation_p.R234G|RHOT1_uc002hha.2_Missense_Mutation_p.R107G|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Missense_Mutation_p.R107G|RHOT1_uc010wby.1_Missense_Mutation_p.R234G|RHOT1_uc002hhb.2_Missense_Mutation_p.R213G|RHOT1_uc002hgv.2_Missense_Mutation_p.R234G	p.R234G	NM_018307	NP_060777	Q8IXI2	MIRO1_HUMAN			10	939	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	234			Mitochondrial intermembrane (Potential).		A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.700A>G	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.888089	0.33348	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.09817	2.94;2.94;2.94	5.59	3.29	0.37713	EF hand associated, type-2 (1);EF-hand-like domain (1);	0.043176	0.85682	D	0.000000	T	0.16514	0.0397	M	0.72118	2.19	0.80722	D	1	P;P;P;P	0.36183	0.486;0.542;0.486;0.486	B;B;B;B	0.39771	0.205;0.309;0.205;0.268	T	0.01215	-1.1416	10	0.41790	T	0.15	-12.4539	12.4007	0.55412	0.7181:0.2819:0.0:0.0	.	234;234;234;234	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	G	234	ENSP00000351132:R234G;ENSP00000378184:R234G;ENSP00000334724:R234G	ENSP00000334724:R234G	R	+	1	2	RHOT1	27544328	0.996000	0.38824	0.999000	0.59377	0.981000	0.71138	2.715000	0.47210	0.366000	0.24427	0.383000	0.25322	AGA		PASS	0.358	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		39	56	39	56	---	---	---	---
UNC45B	146862	broad.mit.edu	37	17	33504141	33504141	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:33504141G>T	ENST00000268876.5	+	16	2234	c.2137G>T	c.(2137-2139)Ggg>Tgg	p.G713W	UNC45B_ENST00000378449.1_Missense_Mutation_p.G632W|UNC45B_ENST00000433649.1_Missense_Mutation_p.G711W|UNC45B_ENST00000394570.2_Missense_Mutation_p.G711W|UNC45B_ENST00000591048.1_Missense_Mutation_p.G632W	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	713					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.G713W(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGCTTTTCCTGGGGAGCGGGT	0.577																																						uc002hja.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|breast(1)	6						c.(2137-2139)GGG>TGG		cardiomyopathy associated 4 isoform 1							83.0	67.0	73.0					17																	33504141		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33504141G>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2137G>T	17.37:g.33504141G>T	ENSP00000268876:p.Gly713Trp					UNC45B_uc002hjb.2_Missense_Mutation_p.G711W|UNC45B_uc002hjc.2_Missense_Mutation_p.G711W|UNC45B_uc010cto.2_Missense_Mutation_p.G632W	p.G713W	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			16	2234	+		Ovarian(249;0.17)	713					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.2137G>T	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206627	0.79127	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.49139	0.79;2.98;0.79	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.098601	0.64402	D	0.000001	T	0.75982	0.3924	M	0.91406	3.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.81426	-0.0938	10	0.87932	D	0	-38.5418	18.0106	0.89222	0.0:0.0:1.0:0.0	.	632;711;713	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	W	713;713;711;632	ENSP00000268876:G713W;ENSP00000412840:G711W;ENSP00000367710:G632W	ENSP00000268876:G713W	G	+	1	0	UNC45B	30528254	1.000000	0.71417	0.998000	0.56505	0.703000	0.40648	9.612000	0.98347	2.814000	0.96858	0.563000	0.77884	GGG		PASS	0.577	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		33	43	33	43	---	---	---	---
SYNRG	11276	broad.mit.edu	37	17	35913393	35913393	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:35913393T>C	ENST00000339208.6	-	14	2572	c.2432A>G	c.(2431-2433)aAg>aGg	p.K811R	SYNRG_ENST00000346661.4_Missense_Mutation_p.K811R|SYNRG_ENST00000345615.4_Missense_Mutation_p.K733R|SYNRG_ENST00000591288.1_Missense_Mutation_p.K650R|SYNRG_ENST00000502449.2_Missense_Mutation_p.K733R|SYNRG_ENST00000394378.2_Missense_Mutation_p.K733R|SYNRG_ENST00000585472.1_Missense_Mutation_p.K732R|SYNRG_ENST00000588194.1_5'Flank	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	811					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.K811R(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCTAAGGACTTCACTGATGC	0.468																																						uc002hoa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2431-2433)AAG>AGG		synergin, gamma isoform 1							135.0	128.0	130.0					17																	35913393		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35913393T>C	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2432A>G	17.37:g.35913393T>C	ENSP00000343610:p.Lys811Arg					SYNRG_uc010wde.1_Missense_Mutation_p.K733R|SYNRG_uc010wdf.1_Missense_Mutation_p.K733R|SYNRG_uc002hoc.2_Missense_Mutation_p.K732R|SYNRG_uc002hoe.2_Missense_Mutation_p.K733R|SYNRG_uc002hod.2_Missense_Mutation_p.K733R|SYNRG_uc010wdg.1_Missense_Mutation_p.K650R|SYNRG_uc002hob.2_Missense_Mutation_p.K811R|SYNRG_uc002hof.2_Missense_Mutation_p.K523R|SYNRG_uc010cvd.1_Missense_Mutation_p.K611R	p.K811R	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN			14	2515	-			811					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.2432A>G	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.036071	0.75617	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.61510	0.68;0.1;0.16	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.85130	0.997;0.997;0.997;0.997;0.996;0.996	T	0.75545	-0.3280	10	0.62326	D	0.03	-16.5505	15.7569	0.78037	0.0:0.0:0.0:1.0	.	650;733;733;733;811;811	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	R	811;650;811;733;733	ENSP00000005279:K811R;ENSP00000424893:K733R;ENSP00000377903:K733R	ENSP00000343610:K650R	K	-	2	0	SYNRG	32987506	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.655000	0.83696	2.371000	0.80710	0.533000	0.62120	AAG		PASS	0.468	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		54	70	54	70	---	---	---	---
KRT27	342574	broad.mit.edu	37	17	38938327	38938327	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:38938327G>C	ENST00000301656.3	-	1	459	c.419C>G	c.(418-420)cCa>cGa	p.P140R		NM_181537.3	NP_853515.2			keratin 27									p.P140R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				GTCAATAATTGGGAAATATCT	0.463																																						uc002hvg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(418-420)CCA>CGA		keratin 27							106.0	94.0	98.0					17																	38938327		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38938327G>C	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.419C>G	17.37:g.38938327G>C	ENSP00000301656:p.Pro140Arg						p.P140R	NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN			1	460	-		Breast(137;0.000812)	140			Rod.|Linker 1.			Missense_Mutation	SNP	ENST00000301656.3	37	c.419C>G	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629962	0.28978	.	.	ENSG00000171446	ENST00000301656	D	0.87809	-2.3	5.66	5.66	0.87406	Filament (1);	0.188989	0.38217	N	0.001771	T	0.71558	0.3354	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.52208	-0.8606	10	0.07813	T	0.8	.	11.7673	0.51939	0.0:0.1319:0.7315:0.1366	.	140	Q7Z3Y8	K1C27_HUMAN	R	140	ENSP00000301656:P140R	ENSP00000301656:P140R	P	-	2	0	KRT27	36191853	0.000000	0.05858	0.953000	0.39169	0.955000	0.61496	0.486000	0.22340	2.815000	0.96918	0.650000	0.86243	CCA		PASS	0.463	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		40	73	40	73	---	---	---	---
KRTAP9-2	83899	broad.mit.edu	37	17	39382983	39382983	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:39382983C>A	ENST00000377721.3	+	1	84	c.77C>A	c.(76-78)cCc>cAc	p.P26H	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.P26H	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	26	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)		p.P26H(1)		large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCTGGAAGCCCACCACTGTG	0.642																																						uc002hwf.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(76-78)CCC>CAC		keratin associated protein 9.2							61.0	61.0	61.0					17																	39382983		2203	4299	6502	SO:0001583	missense	83899					keratin filament	protein binding	g.chr17:39382983C>A	AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"""Keratin associated proteins"""	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.77C>A	17.37:g.39382983C>A	ENSP00000366950:p.Pro26His						p.P26H	NM_031961	NP_114167	Q9BYQ4	KRA92_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	84	+		Breast(137;0.000496)	26			17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].		Q17RK8|Q2TB15|Q6ISF6	Missense_Mutation	SNP	ENST00000377721.3	37	c.77C>A	CCDS32651.1	.	.	.	.	.	.	.	.	.	.	.	6.576	0.474686	0.12521	.	.	ENSG00000239886	ENST00000377721;ENST00000455970	T;T	0.01981	5.35;4.52	2.27	2.27	0.28462	.	.	.	.	.	T	0.11836	0.0288	M	0.84511	2.7	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.02860	-1.1101	9	0.87932	D	0	.	8.1942	0.31387	0.0:1.0:0.0:0.0	.	26	Q9BYQ4	KRA92_HUMAN	H	26	ENSP00000366950:P26H;ENSP00000398325:P26H	ENSP00000366950:P26H	P	+	2	0	KRTAP9-2	36636509	0.249000	0.23941	0.016000	0.15963	0.443000	0.32047	0.904000	0.28491	1.616000	0.50265	0.552000	0.68991	CCC		PASS	0.642	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1			4	113	4	113	---	---	---	---
KRTAP9-8	83901	broad.mit.edu	37	17	39394365	39394365	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:39394365C>A	ENST00000254072.6	+	1	69	c.62C>A	c.(61-63)cCc>cAc	p.P21H		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	21	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)		p.P21H(1)		lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCTGGAAGCCCACCACTGTG	0.607																																						uc002hwh.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(61-63)CCC>CAC		keratin associated protein 9.8							112.0	136.0	128.0					17																	39394365		2102	4300	6402	SO:0001583	missense	83901					keratin filament		g.chr17:39394365C>A	AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.62C>A	17.37:g.39394365C>A	ENSP00000254072:p.Pro21His					KRTAP9-9_uc010wfq.1_Intron	p.P21H	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	96	+		Breast(137;0.000496)	21			15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].			Missense_Mutation	SNP	ENST00000254072.6	37	c.62C>A	CCDS42334.1	.	.	.	.	.	.	.	.	.	.	.	13.94	2.387596	0.42308	.	.	ENSG00000187272	ENST00000254072	T	0.02177	4.41	1.67	1.67	0.24075	.	.	.	.	.	T	0.06096	0.0158	M	0.68952	2.095	0.09310	N	1	D	0.67145	0.996	P	0.51945	0.685	T	0.26503	-1.0101	9	0.87932	D	0	.	9.3952	0.38397	0.0:1.0:0.0:0.0	.	21	Q9BYQ0	KRA98_HUMAN	H	21	ENSP00000254072:P21H	ENSP00000254072:P21H	P	+	2	0	KRTAP9-8	36647891	0.972000	0.33761	0.001000	0.08648	0.854000	0.48673	0.226000	0.17776	1.259000	0.44117	0.306000	0.20318	CCC		PASS	0.607	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257712.1			5	130	5	130	---	---	---	---
KRTAP9-4	85280	broad.mit.edu	37	17	39406049	39406049	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:39406049C>A	ENST00000334109.2	+	1	111	c.77C>A	c.(76-78)cCc>cAc	p.P26H		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	26	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)		p.P26H(1)		breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCTGGAAGCCCACCACTGTG	0.622																																						uc002hwi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(76-78)CCC>CAC		keratin associated protein 9-4							77.0	63.0	68.0					17																	39406049		2203	4296	6499	SO:0001583	missense	85280					keratin filament		g.chr17:39406049C>A	AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"""Keratin associated proteins"""	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.77C>A	17.37:g.39406049C>A	ENSP00000334922:p.Pro26His					KRTAP9-9_uc010wfq.1_Intron	p.P26H	NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	111	+		Breast(137;0.000496)	26			15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].		Q0VAE3	Missense_Mutation	SNP	ENST00000334109.2	37	c.77C>A	CCDS11386.1	.	.	.	.	.	.	.	.	.	.	.	9.091	1.001810	0.19121	.	.	ENSG00000241595;ENSG00000198083	ENST00000334109;ENST00000431129	T	0.01234	5.13	2.2	2.2	0.27929	.	.	.	.	.	T	0.05410	0.0143	L	0.58510	1.815	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.28459	-1.0043	9	0.87932	D	0	.	7.9979	0.30280	0.0:1.0:0.0:0.0	.	26	Q9BYQ2	KRA94_HUMAN	H	26	ENSP00000334922:P26H	ENSP00000334922:P26H	P	+	2	0	KRTAP9-4;KRTAP9-9	36659575	0.021000	0.18746	0.010000	0.14722	0.019000	0.09904	2.231000	0.43009	1.522000	0.49001	0.400000	0.26472	CCC		PASS	0.622	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257306.1			29	73	29	73	---	---	---	---
KRT16	3868	broad.mit.edu	37	17	39767163	39767163	+	Silent	SNP	C	C	A	rs566540770		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:39767163C>A	ENST00000301653.4	-	5	1066	c.1002G>T	c.(1000-1002)acG>acT	p.T334T		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	334	Coil 2.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.T334T(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TCCGGAGCTCCGTCACCTCAC	0.597																																						uc002hxg.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1000-1002)ACG>ACT		keratin 16							53.0	52.0	52.0					17																	39767163		2203	4300	6503	SO:0001819	synonymous_variant	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39767163C>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.1002G>T	17.37:g.39767163C>A						JUP_uc010wfs.1_Intron	p.T334T	NM_005557	NP_005548	P08779	K1C16_HUMAN			5	1141	-		Breast(137;0.000307)	334			Rod.|Coil 2.		A8K488|P30654|Q16402|Q9UBG8	Silent	SNP	ENST00000301653.4	37	c.1002G>T	CCDS11401.1																																																																																				PASS	0.597	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		42	48	42	48	---	---	---	---
MYL4	4635	broad.mit.edu	37	17	45299068	45299068	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:45299068G>T	ENST00000354968.1	+	5	462	c.334G>T	c.(334-336)Gac>Tac	p.D112Y	MYL4_ENST00000572316.1_Missense_Mutation_p.D112Y|snoU13_ENST00000516279.1_RNA|MYL4_ENST00000393450.1_Missense_Mutation_p.D112Y	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	112					cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of the force of heart contraction (GO:0002026)	A band (GO:0031672)|cytosol (GO:0005829)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin II heavy chain binding (GO:0032038)	p.D112Y(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						CAAGATGCTGGACTTTGAGAC	0.537																																						uc002ilg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(334-336)GAC>TAC		atrial/embryonic alkali myosin light chain							166.0	140.0	149.0					17																	45299068		2203	4300	6503	SO:0001583	missense	4635				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	g.chr17:45299068G>T		CCDS11510.1	17q21.32	2013-09-19	2006-09-29		ENSG00000198336	ENSG00000198336		"""Myosins / Light chain"", ""EF-hand domain containing"""	7585	protein-coding gene	gene with protein product	"""myosin, atrial/fetal muscle, light chain"""	160770	"""myosin, light polypeptide 4, alkali; atrial, embryonic"""			3417683	Standard	NM_002476		Approved	ALC1, AMLC, GT1, PRO1957	uc002ilg.3	P12829	OTTHUMG00000178232	ENST00000354968.1:c.334G>T	17.37:g.45299068G>T	ENSP00000347055:p.Asp112Tyr					MYL4_uc002ilh.2_Missense_Mutation_p.D112Y	p.D112Y	NM_001002841	NP_001002841	P12829	MYL4_HUMAN			5	462	+			112					D3DXJ7|P11783	Missense_Mutation	SNP	ENST00000354968.1	37	c.334G>T	CCDS11510.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278487	0.80692	.	.	ENSG00000198336	ENST00000354968;ENST00000393450	D;D	0.82167	-1.58;-1.58	5.23	5.23	0.72850	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94584	0.8255	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95984	0.8980	10	0.56958	D	0.05	-42.6528	16.6437	0.85155	0.0:0.0:1.0:0.0	.	112	P12829	MYL4_HUMAN	Y	112	ENSP00000347055:D112Y;ENSP00000377096:D112Y	ENSP00000347055:D112Y	D	+	1	0	MYL4	42654067	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.820000	0.86633	2.581000	0.87130	0.555000	0.69702	GAC		PASS	0.537	MYL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441059.1	NM_001002841		73	102	73	102	---	---	---	---
GIP	2695	broad.mit.edu	37	17	47044509	47044509	+	Splice_Site	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:47044509C>A	ENST00000357424.2	-	2	186	c.86G>T	c.(85-87)aGc>aTc	p.S29I		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	29					adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|digestive system development (GO:0055123)|endocrine pancreas development (GO:0031018)|exploration behavior (GO:0035640)|female pregnancy (GO:0007565)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of glucagon secretion (GO:0070094)|positive regulation of glucose transport (GO:0010828)|positive regulation of insulin secretion (GO:0032024)|regulation of insulin secretion (GO:0050796)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to lipid (GO:0033993)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|response to selenium ion (GO:0010269)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|secretory granule lumen (GO:0034774)	hormone activity (GO:0005179)	p.S29I(1)		lung(2)|skin(1)|stomach(1)	4						CCACTCCTACCTGAAGTGACC	0.527																																						uc002iol.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(85-87)AGC>ATC		gastric inhibitory polypeptide preproprotein							86.0	79.0	81.0					17																	47044509		2203	4300	6503	SO:0001630	splice_region_variant	2695				energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr17:47044509C>A		CCDS11542.1	17q21.3-q22	2013-02-26			ENSG00000159224	ENSG00000159224		"""Endogenous ligands"""	4270	protein-coding gene	gene with protein product	"""glucose-dependent insulinotropic polypeptide"""	137240				2739653	Standard	NM_004123		Approved		uc002iol.1	P09681	OTTHUMG00000161171	ENST00000357424.2:c.86+1G>T	17.37:g.47044509C>A							p.S29I	NM_004123	NP_004114	P09681	GIP_HUMAN			2	184	-			29					Q4VB42|Q6NTD3	Missense_Mutation	SNP	ENST00000357424.2	37	c.86G>T	CCDS11542.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484038	0.63962	.	.	ENSG00000159224	ENST00000357424	T	0.24151	1.87	5.15	4.19	0.49359	.	0.647808	0.13731	N	0.366706	T	0.22044	0.0531	N	0.19112	0.55	0.30284	N	0.791047	P	0.52316	0.952	P	0.49140	0.601	T	0.03807	-1.1002	9	.	.	.	.	9.503	0.39028	0.0:0.905:0.0:0.095	.	29	P09681	GIP_HUMAN	I	29	ENSP00000350005:S29I	.	S	-	2	0	GIP	44399508	1.000000	0.71417	0.992000	0.48379	0.750000	0.42670	1.945000	0.40273	1.411000	0.46957	0.643000	0.83706	AGC		PASS	0.527	GIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364044.1	NM_004123	Missense_Mutation	4	129	4	129	---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54554865	54554865	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:54554865A>G	ENST00000318698.2	+	15	1834	c.1799A>G	c.(1798-1800)cAc>cGc	p.H600R	ANKFN1_ENST00000566473.2_Missense_Mutation_p.H600R	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	600								p.H600R(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CTATCCTATCACAAAAGGAGT	0.363																																						uc002iun.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1798-1800)CAC>CGC		ankyrin-repeat and fibronectin type III domain							83.0	78.0	80.0					17																	54554865		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54554865A>G	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1799A>G	17.37:g.54554865A>G	ENSP00000321627:p.His600Arg						p.H600R	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			15	1834	+			600						Missense_Mutation	SNP	ENST00000318698.2	37	c.1799A>G	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316374	0.60524	.	.	ENSG00000153930	ENST00000318698	T	0.26067	1.76	5.83	5.83	0.93111	.	0.246896	0.49916	D	0.000138	T	0.32315	0.0825	M	0.72894	2.215	0.51012	D	0.999902	B	0.28713	0.22	B	0.25140	0.058	T	0.10382	-1.0632	10	0.72032	D	0.01	-5.2578	16.1982	0.82046	1.0:0.0:0.0:0.0	.	600	Q8N957	ANKF1_HUMAN	R	600	ENSP00000321627:H600R	ENSP00000321627:H600R	H	+	2	0	ANKFN1	51909864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.226000	0.72624	0.533000	0.62120	CAC		PASS	0.363	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		31	39	31	39	---	---	---	---
INTS2	57508	broad.mit.edu	37	17	60004014	60004014	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:60004014T>C	ENST00000444766.3	-	2	91	c.16A>G	c.(16-18)Aca>Gca	p.T6A	INTS2_ENST00000251334.6_5'UTR	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	6					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)		p.T6A(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						ATTATTACTGTTTGTTGATCC	0.363																																						uc002izn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(16-18)ACA>GCA		integrator complex subunit 2																																				SO:0001583	missense	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:60004014T>C	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.16A>G	17.37:g.60004014T>C	ENSP00000414237:p.Thr6Ala					INTS2_uc002izm.2_5'UTR	p.T6A	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN			2	92	-			6					Q9ULD3	Missense_Mutation	SNP	ENST00000444766.3	37	c.16A>G	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.914865	0.33815	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T;T	0.41065	1.01;1.05	0.158	0.158	0.14942	.	2.337850	0.01391	N	0.013249	T	0.23846	0.0577	N	0.08118	0	0.80722	D	1	B	0.22541	0.071	B	0.14023	0.01	T	0.14896	-1.0456	8	.	.	.	19.8942	.	.	.	.	6	Q9H0H0	INT2_HUMAN	A	6;5	ENSP00000414237:T6A;ENSP00000251334:T5A	.	T	-	1	0	INTS2	57358796	0.995000	0.38212	0.890000	0.34922	0.759000	0.43091	0.215000	0.17562	0.175000	0.19841	0.172000	0.16884	ACA		PASS	0.363	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		6	16	6	16	---	---	---	---
GH2	2689	broad.mit.edu	37	17	61957775	61957775	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:61957775C>T	ENST00000423893.2	-	5	621	c.560G>A	c.(559-561)gGg>gAg	p.G187E	GH2_ENST00000449787.2_Missense_Mutation_p.G172E|GH2_ENST00000332800.7_3'UTR|GH2_ENST00000456543.2_Missense_Mutation_p.G186S			P01242	SOM2_HUMAN	growth hormone 2	187					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.G186S(1)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GTAGAGCAGCCCGTAGTTCTT	0.562																																						uc002jco.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|pancreas(1)	3						c.(559-561)GGG>GAG		growth hormone 2 isoform 1							191.0	156.0	168.0					17																	61957775		2203	4300	6503	SO:0001583	missense	2689					extracellular region	hormone activity	g.chr17:61957775C>T	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.560G>A	17.37:g.61957775C>T	ENSP00000409294:p.Gly187Glu					GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_3'UTR|GH2_uc002jcm.1_Missense_Mutation_p.G186S|GH2_uc002jcn.1_Missense_Mutation_p.G172E	p.G187E	NM_002059	NP_002050	P01242	SOM2_HUMAN			5	622	-			187					B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	c.560G>A	CCDS11647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.97|13.97	2.394456|2.394456	0.42512|0.42512	.|.	.|.	ENSG00000136487|ENSG00000136487	ENST00000423893;ENST00000449787|ENST00000456543	T;T|D	0.42513|0.90133	0.97;0.97|-2.62	2.74|2.74	1.74|1.74	0.24563|0.24563	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);|.	.|.	.|.	.|.	.|.	D|D	0.82733|0.82733	0.5101|0.5101	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D;D|P	0.58620|0.43477	0.983;0.962|0.808	D;B|B	0.63381|0.41332	0.914;0.301|0.354	T|T	0.78780|0.78780	-0.2070|-0.2070	9|9	0.66056|0.02654	D|T	0.02|1	.|.	8.4599|8.4599	0.32921|0.32921	0.0:0.8753:0.0:0.1247|0.0:0.8753:0.0:0.1247	.|.	187;172|186	P01242;O14643|O14644	SOM2_HUMAN;.|.	E|S	187;172|186	ENSP00000409294:G187E;ENSP00000410618:G172E|ENSP00000394122:G186S	ENSP00000409294:G187E|ENSP00000394122:G186S	G|G	-|-	2|1	0|0	GH2|GH2	59311507|59311507	0.869000|0.869000	0.29996|0.29996	0.985000|0.985000	0.45067|0.45067	0.014000|0.014000	0.08584|0.08584	1.845000|1.845000	0.39279|0.39279	0.478000|0.478000	0.27488|0.27488	0.306000|0.306000	0.20318|0.20318	GGG|GGC		PASS	0.562	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		44	69	44	69	---	---	---	---
ABCA10	10349	broad.mit.edu	37	17	67186506	67186506	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:67186506A>T	ENST00000269081.4	-	19	3033	c.2124T>A	c.(2122-2124)gaT>gaA	p.D708E	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	708					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D708E(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TACCTGGTTCATCAATTGCTG	0.323																																						uc010dfa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2122-2124)GAT>GAA		ATP-binding cassette, sub-family A, member 10							96.0	93.0	94.0					17																	67186506		2202	4299	6501	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67186506A>T	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2124T>A	17.37:g.67186506A>T	ENSP00000269081:p.Asp708Glu					ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.D309E	p.D708E	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			19	3003	-	Breast(10;6.95e-12)		708					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.2124T>A	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	A	3.815	-0.038936	0.07497	.	.	ENSG00000154263	ENST00000269081	D	0.87571	-2.27	2.99	-2.82	0.05787	.	0.000000	0.34828	U	0.003658	T	0.68201	0.2975	N	0.16790	0.44	0.20703	N	0.999866	B;B	0.12013	0.001;0.005	B;B	0.09377	0.004;0.004	T	0.53056	-0.8492	10	0.33141	T	0.24	.	2.0043	0.03474	0.3451:0.143:0.3718:0.1401	.	708;708	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	E	708	ENSP00000269081:D708E	ENSP00000269081:D708E	D	-	3	2	ABCA10	64698101	0.000000	0.05858	0.001000	0.08648	0.397000	0.30659	-0.729000	0.04920	-0.860000	0.04099	0.460000	0.39030	GAT		PASS	0.323	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		30	48	30	48	---	---	---	---
KCNJ2	3759	broad.mit.edu	37	17	68171777	68171777	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:68171777C>T	ENST00000243457.3	+	2	980	c.597C>T	c.(595-597)gcC>gcT	p.A199A	KCNJ2_ENST00000535240.1_Silent_p.A199A	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	199					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)	p.A199A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GTCACAATGCCGTGATTGCCA	0.512																																						uc010dfg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(595-597)GCC>GCT		potassium inwardly-rectifying channel J2							137.0	111.0	120.0					17																	68171777		2203	4300	6503	SO:0001819	synonymous_variant	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171777C>T	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.597C>T	17.37:g.68171777C>T						KCNJ2_uc002jir.2_Silent_p.A199A	p.A199A	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	998	+	Breast(10;1.64e-08)		199			Cytoplasmic (By similarity).		O15110|P48049	Silent	SNP	ENST00000243457.3	37	c.597C>T	CCDS11688.1																																																																																				PASS	0.512	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		55	68	55	68	---	---	---	---
KIF19	124602	broad.mit.edu	37	17	72351440	72351440	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:72351440C>G	ENST00000389916.4	+	20	3124	c.2986C>G	c.(2986-2988)Cgg>Ggg	p.R996G		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	996					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.R996G(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TGGATGCTCCCGGCATAACTG	0.647																																						uc002jkm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2986-2988)CGG>GGG		kinesin family member 19							27.0	30.0	29.0					17																	72351440		1934	4137	6071	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72351440C>G	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2986C>G	17.37:g.72351440C>G	ENSP00000374566:p.Arg996Gly						p.R996G	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			20	3124	+			996					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.2986C>G	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	7.706	0.694040	0.15039	.	.	ENSG00000196169	ENST00000389916	T	0.72505	-0.66	4.69	0.118	0.14667	.	.	.	.	.	T	0.57446	0.2054	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46190	-0.9209	9	0.39692	T	0.17	.	2.5164	0.04669	0.1468:0.5358:0.1426:0.1749	.	996	Q2TAC6	KIF19_HUMAN	G	996	ENSP00000374566:R996G	ENSP00000374566:R996G	R	+	1	2	KIF19	69863035	0.000000	0.05858	0.008000	0.14137	0.522000	0.34438	0.097000	0.15168	-0.092000	0.12417	-0.347000	0.07816	CGG		PASS	0.647	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		8	19	8	19	---	---	---	---
GRIN2C	2905	broad.mit.edu	37	17	72845955	72845955	+	Missense_Mutation	SNP	G	G	T	rs367631087		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:72845955G>T	ENST00000293190.5	-	7	1755	c.1609C>A	c.(1609-1611)Cgc>Agc	p.R537S	GRIN2C_ENST00000578159.1_5'Flank|GRIN2C_ENST00000347612.4_Missense_Mutation_p.R537S	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	537					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.R537S(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCATTGCTGCGAGCCACCATC	0.627																																						uc002jlt.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)	4						c.(1609-1611)CGC>AGC		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						92.0	84.0	87.0					17																	72845955		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72845955G>T		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1609C>A	17.37:g.72845955G>T	ENSP00000293190:p.Arg537Ser					GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.R537S	p.R537S	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			7	1765	-	all_lung(278;0.172)|Lung NSC(278;0.207)		537			Extracellular (Potential).		B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.1609C>A	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558616	0.27827	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.26810	1.71	4.19	2.02	0.26589	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.45975	0.1369	M	0.65320	2	0.35818	D	0.824411	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.937	T	0.58685	-0.7593	10	0.87932	D	0	.	13.2139	0.59844	0.0:0.0:0.4869:0.5131	.	571;537	Q8IW23;Q14957	.;NMDE3_HUMAN	S	537;571	ENSP00000293190:R537S	ENSP00000293190:R537S	R	-	1	0	GRIN2C	70357550	0.778000	0.28640	0.133000	0.22050	0.988000	0.76386	1.127000	0.31357	0.428000	0.26173	0.491000	0.48974	CGC		PASS	0.627	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			43	70	43	70	---	---	---	---
OTOP2	92736	broad.mit.edu	37	17	72923879	72923879	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:72923879G>A	ENST00000580223.1	+	4	659	c.629G>A	c.(628-630)cGt>cAt	p.R210H	OTOP2_ENST00000331427.4_Missense_Mutation_p.R210H			Q7RTS6	OTOP2_HUMAN	otopetrin 2	210						integral component of membrane (GO:0016021)		p.R210H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGCCACGCCCGTCTCATCTCT	0.577																																						uc010wrp.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(628-630)CGT>CAT		otopetrin 2							93.0	68.0	76.0					17																	72923879		2203	4300	6503	SO:0001583	missense	92736					integral to membrane		g.chr17:72923879G>A	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.629G>A	17.37:g.72923879G>A	ENSP00000463837:p.Arg210His					OTOP2_uc002jmf.1_3'UTR	p.R210H	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN			6	718	+	all_lung(278;0.172)|Lung NSC(278;0.207)		210						Missense_Mutation	SNP	ENST00000580223.1	37	c.629G>A	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	G	6.837	0.523601	0.13066	.	.	ENSG00000183034	ENST00000331427	T	0.23147	1.92	5.5	2.25	0.28309	.	0.434846	0.27336	N	0.019833	T	0.12518	0.0304	N	0.14661	0.345	0.32829	D	0.50383	B	0.20887	0.049	B	0.12837	0.008	T	0.10042	-1.0647	10	0.38643	T	0.18	-11.3125	5.9299	0.19132	0.2384:0.0:0.6248:0.1368	.	210	Q7RTS6	OTOP2_HUMAN	H	210	ENSP00000332528:R210H	ENSP00000332528:R210H	R	+	2	0	OTOP2	70435474	0.118000	0.22208	0.795000	0.32087	0.003000	0.03518	0.581000	0.23819	0.303000	0.22785	-1.786000	0.00637	CGT		PASS	0.577	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		17	27	17	27	---	---	---	---
LLGL2	3993	broad.mit.edu	37	17	73560510	73560510	+	Missense_Mutation	SNP	G	G	A	rs34553577		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:73560510G>A	ENST00000392550.3	+	10	1075	c.958G>A	c.(958-960)Gat>Aat	p.D320N	LLGL2_ENST00000577200.1_Missense_Mutation_p.D320N|LLGL2_ENST00000167462.5_Missense_Mutation_p.D320N|LLGL2_ENST00000375227.4_Missense_Mutation_p.D320N|LLGL2_ENST00000578363.1_Missense_Mutation_p.D320N	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	320					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)	p.D320N(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGTGATCCACGATGGCCAGCA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		20185	0.0		0.001	False		,,,				2504	0.0					uc002joh.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(958-960)GAT>AAT		lethal giant larvae homolog 2 isoform c		G	ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	66.0	60.0	62.0		958,958,958	0.4	0.0	17	dbSNP_126	62	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	LLGL2	NM_001015002.1,NM_001031803.1,NM_004524.2	23,23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	320/357,320/1021,320/1016	73560510	1,13005	2203	4300	6503	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73560510G>A	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.958G>A	17.37:g.73560510G>A	ENSP00000376333:p.Asp320Asn					LLGL2_uc002jog.1_Missense_Mutation_p.D320N|LLGL2_uc010dgf.1_Missense_Mutation_p.D320N|LLGL2_uc002joi.2_Missense_Mutation_p.D320N|LLGL2_uc010dgg.1_Missense_Mutation_p.D320N|LLGL2_uc002joj.2_Missense_Mutation_p.D309N|LLGL2_uc010wsd.1_5'UTR|uc002jok.2_5'Flank	p.D320N	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		10	1112	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		320			WD 6.		Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.958G>A	CCDS32733.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.05	2.120003	0.37436	0.0	1.16E-4	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000375227;ENST00000545227	T;T;T	0.32988	3.44;3.56;1.43	5.12	0.427	0.16489	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.531570	0.22287	N	0.062049	T	0.18087	0.0434	N	0.20574	0.59	0.23607	N	0.997302	B;B;B;B;B	0.12630	0.005;0.004;0.002;0.006;0.006	B;B;B;B;B	0.15484	0.003;0.002;0.005;0.013;0.008	T	0.17258	-1.0375	10	0.39692	T	0.17	-0.5275	10.5414	0.45035	0.2619:0.0:0.7381:0.0	rs34553577	309;309;320;320;320	B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3;Q6P1M3-3	.;.;.;L2GL2_HUMAN;.	N	320;320;320;309	ENSP00000167462:D320N;ENSP00000376333:D320N;ENSP00000364375:D320N	ENSP00000167462:D320N	D	+	1	0	LLGL2	71072105	0.012000	0.17670	0.006000	0.13384	0.860000	0.49131	0.996000	0.29719	-0.092000	0.12417	0.561000	0.74099	GAT		PASS	0.637	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		42	53	42	53	---	---	---	---
ENTHD2	146705	broad.mit.edu	37	17	79205420	79205420	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr17:79205420C>T	ENST00000300714.3	-	9	830	c.773G>A	c.(772-774)cGc>cAc	p.R258H	AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_Missense_Mutation_p.R174H|AC027601.1_ENST00000569559.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	258						cytoplasmic vesicle (GO:0031410)		p.R258H(1)									CAGGAAGGCGCGTGGTCCCCG	0.667																																						uc002jzu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(772-774)CGC>CAC		hypothetical protein LOC146705							35.0	31.0	32.0					17																	79205420		2203	4300	6503	SO:0001583	missense	146705					integral to membrane		g.chr17:79205420C>T	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.773G>A	17.37:g.79205420C>T	ENSP00000300714:p.Arg258His					C17orf56_uc002jzr.1_5'Flank|C17orf56_uc002jzs.1_Missense_Mutation_p.R174H|C17orf56_uc002jzt.1_Missense_Mutation_p.R174H|C17orf56_uc002jzv.1_Missense_Mutation_p.R106H|uc002jzw.1_RNA	p.R258H	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		9	795	-	all_neural(118;0.0804)|Melanoma(429;0.242)		258					Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	ENST00000300714.3	37	c.773G>A	CCDS11779.1	.	.	.	.	.	.	.	.	.	.	C	7.085	0.570969	0.13623	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T;T	0.23552	1.9;1.9	4.79	-0.853	0.10709	.	0.526896	0.21186	N	0.078738	T	0.15998	0.0385	L	0.31664	0.95	0.09310	N	1	B;B	0.14805	0.011;0.002	B;B	0.09377	0.004;0.002	T	0.15983	-1.0418	10	0.46703	T	0.11	-2.9736	9.459	0.38772	0.0:0.5343:0.0:0.4657	.	258;174	Q96N21;Q96N21-2	CQ056_HUMAN;.	H	258;174	ENSP00000300714:R258H;ENSP00000363901:R174H	ENSP00000300714:R258H	R	-	2	0	C17orf56	76820015	0.048000	0.20356	0.000000	0.03702	0.015000	0.08874	0.451000	0.21779	-0.304000	0.08843	-0.258000	0.10820	CGC		PASS	0.667	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		13	22	13	22	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5438068	5438068	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr18:5438068G>C	ENST00000341928.2	-	6	911	c.571C>G	c.(571-573)Cca>Gca	p.P191A	EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000540638.2_Missense_Mutation_p.P191A|EPB41L3_ENST00000544123.1_Missense_Mutation_p.P191A|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P191A|EPB41L3_ENST00000400111.3_Missense_Mutation_p.P191A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	191	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.P191A(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCAGGGTCTGGTGGATAAAAT	0.383																																						uc002kmt.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(571-573)CCA>GCA		erythrocyte membrane protein band 4.1-like 3							116.0	112.0	113.0					18																	5438068		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5438068G>C	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.571C>G	18.37:g.5438068G>C	ENSP00000343158:p.Pro191Ala					EPB41L3_uc010wzh.1_Missense_Mutation_p.P191A|EPB41L3_uc002kmu.1_Missense_Mutation_p.P191A|EPB41L3_uc010dkq.1_Missense_Mutation_p.P82A|EPB41L3_uc010dks.1_Missense_Mutation_p.P213A|EPB41L3_uc002kmv.1_Missense_Mutation_p.P82A	p.P191A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			6	657	-			191			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.571C>G	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767641	0.90020	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111;ENST00000542652	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	5.83	5.83	0.93111	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.85261	0.5656	M	0.78456	2.415	0.80722	D	1	P;D;D;D;D	0.76494	0.937;0.99;0.998;0.999;0.983	P;P;D;D;P	0.75484	0.584;0.768;0.968;0.986;0.748	D	0.85168	0.0996	10	0.56958	D	0.05	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	191;191;82;191;191	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	A	191;82;191;82;191;191;272	ENSP00000343158:P191A;ENSP00000441174:P191A;ENSP00000341138:P191A;ENSP00000382981:P191A	ENSP00000343158:P191A	P	-	1	0	EPB41L3	5428068	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.830000	0.99415	2.769000	0.95229	0.655000	0.94253	CCA		PASS	0.383	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		28	97	28	97	---	---	---	---
L3MBTL4	91133	broad.mit.edu	37	18	5969551	5969551	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr18:5969551C>A	ENST00000284898.6	-	18	1682	c.1482G>T	c.(1480-1482)gtG>gtT	p.V494V	L3MBTL4_ENST00000535782.1_Silent_p.V298V|L3MBTL4_ENST00000400105.2_Silent_p.V494V|L3MBTL4_ENST00000317931.7_Silent_p.V485V	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	494					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V494V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GCGCCTGCTCCACCGAGTATT	0.627																																					Esophageal Squamous(41;748 902 17366 28959 43175)	uc002kmz.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|pancreas(1)	3						c.(1480-1482)GTG>GTT		l(3)mbt-like 4							52.0	58.0	56.0					18																	5969551		2081	4212	6293	SO:0001819	synonymous_variant	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:5969551C>A	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1482G>T	18.37:g.5969551C>A						L3MBTL4_uc010dkt.2_Silent_p.V494V|L3MBTL4_uc002kmy.3_Silent_p.V323V	p.V494V	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN			18	1642	-		Colorectal(10;0.0249)	494					A8MTL8|Q8IXS3	Silent	SNP	ENST00000284898.6	37	c.1482G>T	CCDS11839.2																																																																																				PASS	0.627	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		40	41	40	41	---	---	---	---
ARHGAP28	79822	broad.mit.edu	37	18	6873568	6873568	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr18:6873568G>T	ENST00000383472.4	+	8	1219	c.1115G>T	c.(1114-1116)gGa>gTa	p.G372V	ARHGAP28_ENST00000419673.2_Missense_Mutation_p.G213V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.G213V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.G372V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.G208V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.G320V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.G213V|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.G195V			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	372					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.G372V(1)|p.G213V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AAAGTAAAAGGACGAGGTAAC	0.358																																						uc010wzi.1																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(583-585)GGA>GTA		SubName: Full=Putative uncharacterized protein ARHGAP28;							106.0	109.0	108.0					18																	6873568		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6873568G>T	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1115G>T	18.37:g.6873568G>T	ENSP00000372964:p.Gly372Val					ARHGAP28_uc002knc.2_Missense_Mutation_p.G320V|ARHGAP28_uc002knd.2_Missense_Mutation_p.G213V|ARHGAP28_uc002kne.2_Missense_Mutation_p.G213V|ARHGAP28_uc002knf.2_Missense_Mutation_p.G204V	p.G195V			B4DXL2	B4DXL2_HUMAN			7	822	+		Colorectal(10;0.168)	195					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.584G>T		.	.	.	.	.	.	.	.	.	.	G	18.08	3.542815	0.65198	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T;T	0.08282	3.26;3.22;3.17;3.17;3.17;3.11;3.32	5.26	5.26	0.73747	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.156285	0.56097	D	0.000026	T	0.12305	0.0299	N	0.16790	0.44	0.80722	D	1	D;B;B;B	0.57899	0.981;0.112;0.34;0.178	P;B;B;B	0.54100	0.742;0.082;0.171;0.171	T	0.18493	-1.0335	10	0.34782	T	0.22	.	19.224	0.93810	0.0:0.0:1.0:0.0	.	372;204;213;320	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	V	372;320;213;208;213;213;204;195	ENSP00000382963:G372V;ENSP00000262227:G320V;ENSP00000392660:G213V;ENSP00000437262:G208V;ENSP00000313506:G213V;ENSP00000406907:G213V;ENSP00000372964:G195V	ENSP00000262227:G320V	G	+	2	0	ARHGAP28	6863568	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	4.721000	0.61951	2.614000	0.88457	0.650000	0.86243	GGA		PASS	0.358	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		41	67	41	67	---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13056424	13056424	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr18:13056424C>T	ENST00000325971.8	+	17	3640	c.2047C>T	c.(2047-2049)Cag>Tag	p.Q683*	CEP192_ENST00000506447.1_Nonsense_Mutation_p.Q1279*|CEP192_ENST00000430049.2_Nonsense_Mutation_p.Q804*			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	683					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.Q683*(1)|p.Q1279*(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CACCTTGCCTCAGTGCCATGC	0.562																																						uc010xac.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(3835-3837)CAG>TAG		centrosomal protein 192kDa							94.0	79.0	84.0					18																	13056424		2203	4300	6503	SO:0001587	stop_gained	55125							g.chr18:13056424C>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2047C>T	18.37:g.13056424C>T	ENSP00000317156:p.Gln683*					CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Nonsense_Mutation_p.Q804*|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Nonsense_Mutation_p.Q1020*	p.Q1279*	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			19	3915	+			1279					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Nonsense_Mutation	SNP	ENST00000325971.8	37	c.3835C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.499281	0.96355	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	.	.	.	5.24	4.37	0.52481	.	1.090360	0.07072	N	0.835696	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	1.7454	13.4482	0.61153	0.0:0.9246:0.0:0.0754	.	.	.	.	X	1279;683;683;804	.	ENSP00000317156:Q683X	Q	+	1	0	CEP192	13046424	0.020000	0.18652	0.651000	0.29564	0.019000	0.09904	1.678000	0.37586	1.211000	0.43351	0.655000	0.94253	CAG		PASS	0.562	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		24	62	24	62	---	---	---	---
MC2R	4158	broad.mit.edu	37	18	13885023	13885023	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr18:13885023C>A	ENST00000327606.3	-	2	675	c.495G>T	c.(493-495)atG>atT	p.M165I		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	165					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.M165I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGAAGATCACCATGGTGATGC	0.572																																					Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(493-495)ATG>ATT		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)						156.0	131.0	139.0					18																	13885023		2203	4300	6503	SO:0001583	missense	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885023C>A		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.495G>T	18.37:g.13885023C>A	ENSP00000333821:p.Met165Ile						p.M165I	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	672	-			165			Helical; Name=4; (By similarity).		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.495G>T	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020498	0.35606	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.36340	1.26	5.28	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.083476	0.85682	N	0.000000	T	0.27731	0.0682	L	0.45137	1.4	0.36976	D	0.894052	B	0.11235	0.004	B	0.16289	0.015	T	0.22977	-1.0201	10	0.56958	D	0.05	.	5.132	0.14915	0.1526:0.6217:0.1458:0.0799	.	165	Q01718	ACTHR_HUMAN	I	165	ENSP00000333821:M165I	ENSP00000333821:M165I	M	-	3	0	MC2R	13875023	0.851000	0.29673	0.999000	0.59377	0.841000	0.47740	0.096000	0.15147	1.227000	0.43598	0.655000	0.94253	ATG		PASS	0.572	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			33	54	33	54	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22806327	22806327	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr18:22806327A>G	ENST00000361524.3	-	4	1703	c.1555T>C	c.(1555-1557)Tat>Cat	p.Y519H	ZNF521_ENST00000584787.1_Missense_Mutation_p.Y299H|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.Y519H	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	519					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.Y519H(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AACCCCATATAGCAATGGGGA	0.473			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(1555-1557)TAT>CAT		zinc finger protein 521							74.0	79.0	78.0					18																	22806327		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806327A>G	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1555T>C	18.37:g.22806327A>G	ENSP00000354794:p.Tyr519His					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.Y519H|ZNF521_uc002kvl.2_Missense_Mutation_p.Y299H	p.Y519H	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	1802	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		519			C2H2-type 12.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1555T>C	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.281090	0.23392	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.27402	1.67;1.67	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.057192	0.64402	D	0.000001	T	0.34513	0.0900	N	0.08118	0	0.37177	D	0.903329	D	0.58970	0.984	P	0.62649	0.905	T	0.50311	-0.8843	10	0.54805	T	0.06	-35.3675	16.2847	0.82712	1.0:0.0:0.0:0.0	.	519	Q96K83	ZN521_HUMAN	H	519;553;519	ENSP00000354794:Y519H;ENSP00000382352:Y519H	ENSP00000354794:Y519H	Y	-	1	0	ZNF521	21060325	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.242000	0.73789	0.528000	0.53228	TAT		PASS	0.473	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		35	553	35	553	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22806627	22806627	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr18:22806627C>A	ENST00000361524.3	-	4	1403	c.1255G>T	c.(1255-1257)Gca>Tca	p.A419S	ZNF521_ENST00000584787.1_Missense_Mutation_p.A199S|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.A419S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	419					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.A419S(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGCAGAACTGCAAGACTTGAA	0.438			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(1255-1257)GCA>TCA		zinc finger protein 521							89.0	89.0	89.0					18																	22806627		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806627C>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1255G>T	18.37:g.22806627C>A	ENSP00000354794:p.Ala419Ser					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.A419S|ZNF521_uc002kvl.2_Missense_Mutation_p.A199S	p.A419S	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	1502	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		419			C2H2-type 9; degenerate.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1255G>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023368	0.35701	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08984	3.05;3.03	6.16	6.16	0.99307	Zinc finger, C2H2-like (1);	0.163881	0.53938	D	0.000054	T	0.16599	0.0399	L	0.32530	0.975	0.45108	D	0.998124	D	0.71674	0.998	D	0.63957	0.92	T	0.01874	-1.1256	10	0.02654	T	1	-19.9065	20.8598	0.99761	0.0:1.0:0.0:0.0	.	419	Q96K83	ZN521_HUMAN	S	419;453;419	ENSP00000354794:A419S;ENSP00000382352:A419S	ENSP00000354794:A419S	A	-	1	0	ZNF521	21060625	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GCA		PASS	0.438	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		38	577	38	577	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22806745	22806745	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr18:22806745C>G	ENST00000361524.3	-	4	1285	c.1137G>C	c.(1135-1137)aaG>aaC	p.K379N	ZNF521_ENST00000584787.1_Missense_Mutation_p.K159N|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.K379N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	379					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.K379N(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCCCTCGACTCTTTGGGATTG	0.532			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(1135-1137)AAG>AAC		zinc finger protein 521							72.0	71.0	71.0					18																	22806745		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806745C>G	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1137G>C	18.37:g.22806745C>G	ENSP00000354794:p.Lys379Asn					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.K379N|ZNF521_uc002kvl.2_Missense_Mutation_p.K159N	p.K379N	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	1384	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		379					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1137G>C	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	8.923	0.961644	0.18583	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09163	3.01;3.04	6.17	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.05090	0.0136	N	0.08118	0	0.38554	D	0.949541	P	0.39376	0.67	B	0.36186	0.219	T	0.50276	-0.8847	10	0.14252	T	0.57	-32.9209	10.1431	0.42747	0.0:0.8128:0.0:0.1872	.	379	Q96K83	ZN521_HUMAN	N	379;413;379	ENSP00000354794:K379N;ENSP00000382352:K379N	ENSP00000354794:K379N	K	-	3	2	ZNF521	21060743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.975000	0.40569	1.630000	0.50440	0.655000	0.94253	AAG		PASS	0.532	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		38	549	38	549	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22806872	22806872	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr18:22806872G>A	ENST00000361524.3	-	4	1158	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	ZNF521_ENST00000584787.1_Missense_Mutation_p.S117L|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.S337L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	337					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.S337L(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTGATTGCATGACTCCGGTTG	0.527			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(1009-1011)TCA>TTA		zinc finger protein 521							109.0	97.0	101.0					18																	22806872		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806872G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1010C>T	18.37:g.22806872G>A	ENSP00000354794:p.Ser337Leu					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.S337L|ZNF521_uc002kvl.2_Missense_Mutation_p.S117L	p.S337L	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	1257	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		337					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1010C>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075041	0.36566	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09817	2.94;2.97	6.17	6.17	0.99709	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.25644	0.0624	L	0.29908	0.895	0.51233	D	0.999911	D	0.76494	0.999	D	0.85130	0.997	T	0.00220	-1.1906	10	0.44086	T	0.13	-17.5417	20.8794	0.99867	0.0:0.0:1.0:0.0	.	337	Q96K83	ZN521_HUMAN	L	337;371;337	ENSP00000354794:S337L;ENSP00000382352:S337L	ENSP00000354794:S337L	S	-	2	0	ZNF521	21060870	1.000000	0.71417	0.973000	0.42090	0.922000	0.55478	7.628000	0.83189	2.941000	0.99782	0.655000	0.94253	TCA		PASS	0.527	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		34	344	34	344	---	---	---	---
AQP4	361	broad.mit.edu	37	18	24436197	24436197	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr18:24436197C>G	ENST00000383168.4	-	5	1078	c.950G>C	c.(949-951)gGa>gCa	p.G317A	AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.G295A|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000583022.1_5'Flank|AQP4_ENST00000581374.1_Missense_Mutation_p.G295A	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	317					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.G317A(1)		kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CAATACCTCTCCAGATTGGTC	0.468																																						uc002kwa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(949-951)GGA>GCA		aquaporin 4 isoform a							280.0	252.0	261.0					18																	24436197		2203	4300	6503	SO:0001583	missense	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24436197C>G	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.950G>C	18.37:g.24436197C>G	ENSP00000372654:p.Gly317Ala					AQP4_uc002kvz.2_Missense_Mutation_p.G295A	p.G317A	NM_001650	NP_001641	P55087	AQP4_HUMAN			5	1013	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		317			Cytoplasmic (Potential).		P78564	Missense_Mutation	SNP	ENST00000383168.4	37	c.950G>C	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113673	0.56398	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.86097	-2.07	5.84	5.84	0.93424	.	0.491387	0.24776	N	0.035681	T	0.77811	0.4186	N	0.24115	0.695	0.51767	D	0.999935	B	0.20550	0.046	B	0.21151	0.033	T	0.74160	-0.3755	10	0.72032	D	0.01	.	14.3232	0.66502	0.0:0.9295:0.0:0.0705	.	317	P55087	AQP4_HUMAN	A	317;297;213	ENSP00000372654:G317A	ENSP00000372654:G317A	G	-	2	0	AQP4	22690195	0.994000	0.37717	0.998000	0.56505	0.766000	0.43426	4.365000	0.59486	2.764000	0.94973	0.650000	0.86243	GGA		PASS	0.468	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		77	848	77	848	---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72343094	72343094	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr18:72343094T>A	ENST00000299687.5	+	1	119	c.119T>A	c.(118-120)aTa>aAa	p.I40K	ZNF407_ENST00000577538.1_Missense_Mutation_p.I40K|ZNF407_ENST00000309902.6_Missense_Mutation_p.I40K|ZNF407_ENST00000582337.1_Missense_Mutation_p.I40K	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	40					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.I40K(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TCTGATGTGATAGCAAGTTTC	0.388																																						uc002llw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(118-120)ATA>AAA		zinc finger protein 407 isoform 1							77.0	75.0	75.0					18																	72343094		1851	4102	5953	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343094T>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.119T>A	18.37:g.72343094T>A	ENSP00000299687:p.Ile40Lys					ZNF407_uc010xfc.1_Missense_Mutation_p.I40K|ZNF407_uc010dqu.1_Missense_Mutation_p.I40K|ZNF407_uc002llu.2_Missense_Mutation_p.I39K	p.I40K	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	176	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	40					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.119T>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	T	8.452	0.853223	0.17106	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.09723	2.95;3.39	4.42	-8.84	0.00803	.	.	.	.	.	T	0.03739	0.0106	N	0.14661	0.345	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.45789	-0.9237	9	0.17369	T	0.5	.	3.2916	0.06950	0.1186:0.2685:0.3784:0.2344	.	40;40;40	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	K	40	ENSP00000299687:I40K;ENSP00000310359:I40K	ENSP00000299687:I40K	I	+	2	0	ZNF407	70472082	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.791000	0.04599	-0.021000	0.14009	0.533000	0.62120	ATA		PASS	0.388	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		23	16	23	16	---	---	---	---
ZNF516	9658	broad.mit.edu	37	18	74154101	74154101	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr18:74154101T>A	ENST00000443185.2	-	3	1227	c.910A>T	c.(910-912)Agc>Tgc	p.S304C	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	304					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.S304C(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTGTTCTTGCTGCCCGTCTTG	0.637																																						uc010dqx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(910-912)AGC>TGC		zinc finger protein 516							58.0	66.0	63.0					18																	74154101		2184	4272	6456	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154101T>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.910A>T	18.37:g.74154101T>A	ENSP00000394757:p.Ser304Cys					ZNF516_uc002lme.2_RNA	p.S304C	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	2	1145	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	304						Missense_Mutation	SNP	ENST00000443185.2	37	c.910A>T		.	.	.	.	.	.	.	.	.	.	T	11.93	1.784976	0.31593	.	.	ENSG00000101493	ENST00000443185	T	0.11385	2.78	4.97	-1.6	0.08426	.	0.380666	0.28257	N	0.016008	T	0.19685	0.0473	.	.	.	0.09310	N	1	D	0.69078	0.997	P	0.57371	0.819	T	0.05716	-1.0868	9	0.72032	D	0.01	-6.5002	10.4881	0.44735	0.0:0.4736:0.0:0.5264	.	304	Q92618	ZN516_HUMAN	C	304	ENSP00000394757:S304C	ENSP00000394757:S304C	S	-	1	0	ZNF516	72283089	0.072000	0.21174	0.000000	0.03702	0.220000	0.24768	0.153000	0.16323	-0.432000	0.07297	0.533000	0.62120	AGC		PASS	0.637	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		27	23	27	23	---	---	---	---
GALR1	2587	broad.mit.edu	37	18	74962644	74962644	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr18:74962644G>T	ENST00000299727.3	+	1	140	c.140G>T	c.(139-141)gGt>gTt	p.G47V		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	47					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.G47V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TTCGCGCTGGGTGTGCTGGGC	0.682																																						uc002lms.3																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(139-141)GGT>GTT		galanin receptor 1							36.0	34.0	35.0					18																	74962644		2203	4299	6502	SO:0001583	missense	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74962644G>T	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.140G>T	18.37:g.74962644G>T	ENSP00000299727:p.Gly47Val						p.G47V	NM_001480	NP_001471	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	1	637	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	47			Helical; Name=1; (Potential).		Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	c.140G>T	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742557	0.89573	.	.	ENSG00000166573	ENST00000299727	T	0.52983	0.64	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.66228	0.2768	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70417	-0.4877	10	0.87932	D	0	.	17.3729	0.87383	0.0:0.0:1.0:0.0	.	47	P47211	GALR1_HUMAN	V	47	ENSP00000299727:G47V	ENSP00000299727:G47V	G	+	2	0	GALR1	73091632	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.379000	0.97198	2.192000	0.70111	0.585000	0.79938	GGT		PASS	0.682	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			16	5	16	5	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76754897	76754897	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr18:76754897G>C	ENST00000537592.2	+	2	2906	c.2906G>C	c.(2905-2907)aGg>aCg	p.R969T	SALL3_ENST00000536229.3_Missense_Mutation_p.R836T|SALL3_ENST00000575389.2_Missense_Mutation_p.R969T	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	969					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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.R969T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TTCCTGAGCAGGGAGCGGGGT	0.662																																						uc002lmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(2905-2907)AGG>ACG		sal-like 3							37.0	34.0	35.0					18																	76754897		2200	4300	6500	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754897G>C	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2906G>C	18.37:g.76754897G>C	ENSP00000441823:p.Arg969Thr					SALL3_uc010dra.2_Missense_Mutation_p.R576T	p.R969T	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	2906	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	969					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.2906G>C	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	9.342	1.063398	0.20067	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T;T	0.11169	2.84;2.8	5.25	4.37	0.52481	.	0.000000	0.64402	D	0.000015	T	0.29458	0.0734	M	0.73962	2.25	0.45791	D	0.998673	P;D	0.69078	0.892;0.997	B;P	0.60789	0.31;0.879	T	0.03910	-1.0993	10	0.44086	T	0.13	-9.949	15.2799	0.73773	0.0:0.0:0.8588:0.1412	.	701;969	F5GXY4;Q9BXA9	.;SALL3_HUMAN	T	969;969;701	ENSP00000441823:R969T;ENSP00000439975:R969T	ENSP00000299466:R969T	R	+	2	0	SALL3	74855885	1.000000	0.71417	0.055000	0.19348	0.289000	0.27227	7.554000	0.82212	1.197000	0.43143	0.462000	0.41574	AGG		PASS	0.662	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		7	10	7	10	---	---	---	---
ATP9B	374868	broad.mit.edu	37	18	76953201	76953201	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr18:76953201G>T	ENST00000426216.2	+	9	909	c.892G>T	c.(892-894)Gct>Tct	p.A298S	ATP9B_ENST00000307671.7_Missense_Mutation_p.A298S	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	298					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A298S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TTCTATCAGTGCTTATGTTTA	0.313																																						uc002lmx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(892-894)GCT>TCT		ATPase, class II, type 9B							127.0	124.0	125.0					18																	76953201		2203	4300	6503	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:76953201G>T	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.892G>T	18.37:g.76953201G>T	ENSP00000398076:p.Ala298Ser					ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Missense_Mutation_p.A298S|ATP9B_uc002lmy.1_RNA|ATP9B_uc002lmz.1_5'UTR	p.A298S	NM_198531	NP_940933	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	9	906	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	298			Cytoplasmic (Potential).		O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.892G>T	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.376881	0.42105	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	T;T	0.67698	-0.25;-0.28	5.01	5.01	0.66863	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	L	0.52759	1.655	0.80722	D	1	B;B	0.26672	0.156;0.128	B;B	0.29267	0.1;0.06	T	0.58978	-0.7540	10	0.21014	T	0.42	.	18.6702	0.91508	0.0:0.0:1.0:0.0	.	298;298	O43861;O43861-2	ATP9B_HUMAN;.	S	298	ENSP00000398076:A298S;ENSP00000304500:A298S	ENSP00000304500:A298S	A	+	1	0	ATP9B	75054189	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	7.881000	0.87252	2.488000	0.83962	0.585000	0.79938	GCT		PASS	0.313	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		48	31	48	31	---	---	---	---
SHC2	25759	broad.mit.edu	37	19	440869	440869	+	Missense_Mutation	SNP	C	C	A	rs548990529		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:440869C>A	ENST00000264554.6	-	2	531	c.532G>T	c.(532-534)Gtg>Ttg	p.V178L		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	178	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)		p.V539L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCTGGTCACCTGCGTGCGC	0.642																																						uc002loq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(532-534)GTG>TTG		SHC (Src homology 2 domain containing)							76.0	91.0	86.0					19																	440869		2110	4245	6355	SO:0001583	missense	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:440869C>A	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.532G>T	19.37:g.440869C>A	ENSP00000264554:p.Val178Leu					SHC2_uc002lop.3_5'Flank	p.V178L	NM_012435	NP_036567	P98077	SHC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	532	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	178			PID.		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	c.532G>T	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846211	0.71603	.	.	ENSG00000129946	ENST00000264554	T	0.20881	2.04	3.2	3.2	0.36748	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	T	0.45196	0.1330	M	0.80028	2.48	0.49389	D	0.999788	P	0.42757	0.789	P	0.61328	0.887	T	0.46638	-0.9177	10	0.51188	T	0.08	-33.0055	12.6692	0.56858	0.0:1.0:0.0:0.0	.	178	P98077	SHC2_HUMAN	L	178	ENSP00000264554:V178L	ENSP00000264554:V178L	V	-	1	0	SHC2	391869	1.000000	0.71417	0.992000	0.48379	0.495000	0.33615	3.547000	0.53663	1.742000	0.51746	0.591000	0.81541	GTG		PASS	0.642	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			41	91	41	91	---	---	---	---
POLRMT	5442	broad.mit.edu	37	19	621340	621340	+	Silent	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:621340C>G	ENST00000588649.2	-	10	2442	c.2358G>C	c.(2356-2358)gcG>gcC	p.A786A	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	786					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)	p.A786A(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGTGCTGCGCCAGCGAGA	0.721																																						uc002lpf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2356-2358)GCG>GCC		mitochondrial DNA-directed RNA polymerase							7.0	8.0	8.0					19																	621340		2111	4161	6272	SO:0001819	synonymous_variant	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:621340C>G		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2358G>C	19.37:g.621340C>G							p.A786A	NM_005035	NP_005026	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	2414	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	786					O60370	Silent	SNP	ENST00000588649.2	37	c.2358G>C	CCDS12036.1																																																																																				PASS	0.721	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		18	16	18	16	---	---	---	---
POLRMT	5442	broad.mit.edu	37	19	621342	621342	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:621342C>T	ENST00000588649.2	-	10	2440	c.2356G>A	c.(2356-2358)Gcg>Acg	p.A786T	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	786					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)	p.A786T(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGCTGCGCCAGCGAGAGG	0.721																																						uc002lpf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2356-2358)GCG>ACG		mitochondrial DNA-directed RNA polymerase							7.0	8.0	8.0					19																	621342		2106	4145	6251	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:621342C>T		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2356G>A	19.37:g.621342C>T	ENSP00000465759:p.Ala786Thr						p.A786T	NM_005035	NP_005026	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	2412	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	786					O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.2356G>A	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	21.4	4.142191	0.77775	.	.	ENSG00000099821	ENST00000215591	T	0.73681	-0.77	4.94	4.94	0.65067	DNA-directed RNA polymerase, helix hairpin domain (1);	0.000000	0.85682	D	0.000000	D	0.90978	0.7163	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94151	0.7405	10	0.87932	D	0	-34.7806	17.1376	0.86744	0.0:1.0:0.0:0.0	.	786	O00411	RPOM_HUMAN	T	786	ENSP00000215591:A786T	ENSP00000215591:A786T	A	-	1	0	POLRMT	572342	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	7.405000	0.80007	2.283000	0.76528	0.455000	0.32223	GCG		PASS	0.721	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		17	16	17	16	---	---	---	---
HMHA1	23526	broad.mit.edu	37	19	1073249	1073249	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:1073249G>A	ENST00000313093.2	+	3	754	c.523G>A	c.(523-525)Gag>Aag	p.E175K	HMHA1_ENST00000586866.1_Missense_Mutation_p.E179K|HMHA1_ENST00000590214.1_Missense_Mutation_p.E202K|HMHA1_ENST00000539243.2_Missense_Mutation_p.E191K|HMHA1_ENST00000543365.1_Missense_Mutation_p.E58K|HMHA1_ENST00000536472.1_Missense_Mutation_p.E15K|HMHA1_ENST00000592335.1_3'UTR	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	175					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)	p.E175K(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAACACCGTGGAGACGCTCAC	0.647																																						uc002lqz.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(523-525)GAG>AAG		minor histocompatibility antigen HA-1							63.0	60.0	61.0					19																	1073249		2202	4300	6502	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1073249G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.523G>A	19.37:g.1073249G>A	ENSP00000316772:p.Glu175Lys					HMHA1_uc010xgd.1_Missense_Mutation_p.E191K|HMHA1_uc010xge.1_Missense_Mutation_p.E15K|HMHA1_uc002lra.1_Missense_Mutation_p.E15K|HMHA1_uc002lrb.1_Missense_Mutation_p.E58K	p.E175K	NM_012292	NP_036424	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	754	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	175					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.523G>A	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106853	0.94292	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.33865	1.44;1.44;1.55;1.39	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.59905	0.2228	M	0.76328	2.33	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;0.972;1.0;0.963	D;P;D;P	0.87578	0.998;0.742;0.997;0.635	T	0.65928	-0.6049	10	0.66056	D	0.02	-29.2514	15.0034	0.71492	0.0:0.0:1.0:0.0	.	15;191;58;175	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	K	191;175;175;15;169;58	ENSP00000439601:E191K;ENSP00000316772:E175K;ENSP00000445109:E15K;ENSP00000438979:E58K	ENSP00000316772:E175K	E	+	1	0	HMHA1	1024249	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.148000	0.94652	1.855000	0.53841	0.491000	0.48974	GAG		PASS	0.647	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			37	79	37	79	---	---	---	---
SGTA	6449	broad.mit.edu	37	19	2757453	2757453	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:2757453C>A	ENST00000221566.2	-	11	991	c.830G>T	c.(829-831)gGc>gTc	p.G277V		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	277	Gln-rich.				viral process (GO:0016032)	cytoplasm (GO:0005737)		p.G277V(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAACTGCTGGCCCCTGCGGGG	0.672																																						uc002lwi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(829-831)GGC>GTC		small glutamine-rich tetratricopeptide							44.0	42.0	43.0					19																	2757453		2203	4300	6503	SO:0001583	missense	6449				interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2757453C>A	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.830G>T	19.37:g.2757453C>A	ENSP00000221566:p.Gly277Val						p.G277V	NM_003021	NP_003012	O43765	SGTA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	977	-		Hepatocellular(1079;0.137)	277			Gln-rich.		D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	ENST00000221566.2	37	c.830G>T	CCDS12094.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623143	0.46840	.	.	ENSG00000104969	ENST00000221566	T	0.43294	0.95	4.42	3.31	0.37934	.	0.107097	0.64402	D	0.000005	T	0.68007	0.2954	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76146	-0.3066	10	0.87932	D	0	-0.0128	13.7401	0.62842	0.0:0.8452:0.1548:0.0	.	277	O43765	SGTA_HUMAN	V	277	ENSP00000221566:G277V	ENSP00000221566:G277V	G	-	2	0	SGTA	2708453	1.000000	0.71417	0.964000	0.40570	0.048000	0.14542	7.436000	0.80404	2.181000	0.69327	0.561000	0.74099	GGC		PASS	0.672	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		21	19	21	19	---	---	---	---
AES	166	broad.mit.edu	37	19	3055691	3055691	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:3055691C>A	ENST00000327141.4	-	5	624	c.268G>T	c.(268-270)Gcc>Tcc	p.A90S	AC005944.2_ENST00000592758.1_RNA|AES_ENST00000586839.1_Missense_Mutation_p.A34S|AES_ENST00000592330.1_Intron|AES_ENST00000221561.8_Missense_Mutation_p.A157S	NM_001130.5|NM_198970.1	NP_001121.2|NP_945321.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	90	Gln-rich (Q domain).				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of gene expression (GO:0010629)|negative regulation of protein binding (GO:0032091)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of anoikis (GO:2000210)|response to interleukin-1 (GO:0070555)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.A157S(1)		lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGACCTGGGCACAAATCCCG	0.642																																					Pancreas(11;265 407 11814 26840 35326)	uc002lwy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(268-270)GCC>TCC		amino-terminal enhancer of split isoform b							78.0	74.0	75.0					19																	3055691		2203	4300	6503	SO:0001583	missense	166				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3055691C>A	AK094591	CCDS12101.1, CCDS12102.1	19p13.3	2008-02-05							307	protein-coding gene	gene with protein product		600188				8365415	Standard	NM_001130		Approved	GRG5, TLE5	uc002lwx.1	Q08117		ENST00000327141.4:c.268G>T	19.37:g.3055691C>A	ENSP00000317537:p.Ala90Ser					AES_uc002lwx.1_3'UTR|AES_uc002lwz.1_Missense_Mutation_p.A90S|AES_uc002lxa.1_Missense_Mutation_p.A34S|AES_uc002lxb.1_Missense_Mutation_p.A157S|AES_uc002lxc.2_Missense_Mutation_p.A157S	p.A90S	NM_001130	NP_001121	Q08117	AES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	441	-		Hepatocellular(1079;0.137)	90			Gln-rich (Q domain).		B2RBL0|Q12808|Q14CJ1|Q96TG9|Q9UDY9	Missense_Mutation	SNP	ENST00000327141.4	37	c.268G>T	CCDS12102.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198550	0.58126	.	.	ENSG00000104964	ENST00000221561;ENST00000327141	T;T	0.52295	0.67;0.72	4.09	2.96	0.34315	Groucho/TLE, N-terminal Q-rich domain (1);	0.269957	0.34959	N	0.003549	T	0.34571	0.0902	N	0.25144	0.715	0.48452	D	0.999651	P;B	0.48089	0.905;0.003	B;B	0.43331	0.416;0.013	T	0.26985	-1.0087	10	0.54805	T	0.06	.	11.1564	0.48491	0.1849:0.8151:0.0:0.0	.	157;90	Q14CJ1;Q08117	.;AES_HUMAN	S	157;90	ENSP00000221561:A157S;ENSP00000317537:A90S	ENSP00000221561:A157S	A	-	1	0	AES	3006691	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.413000	0.59795	1.835000	0.53391	0.655000	0.94253	GCC		PASS	0.642	AES-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452154.1	NM_198969		12	140	12	140	---	---	---	---
SAFB	6294	broad.mit.edu	37	19	5664436	5664436	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:5664436G>C	ENST00000292123.5	+	17	2427	c.2320G>C	c.(2320-2322)Gaa>Caa	p.E774Q	SAFB_ENST00000592224.1_Missense_Mutation_p.E773Q|SAFB_ENST00000538656.1_Missense_Mutation_p.E616Q|SAFB_ENST00000454510.1_Missense_Mutation_p.E705Q|SAFB_ENST00000588852.1_Missense_Mutation_p.E774Q|SAFB_ENST00000433404.1_Missense_Mutation_p.E604Q	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	774	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E774Q(1)		breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AATGATGGGAGAACGAGAAGG	0.473																																					Colon(88;338 1345 6184 8214 20897)	uc002mcf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)|skin(1)	3						c.(2320-2322)GAA>CAA		scaffold attachment factor B							94.0	91.0	92.0					19																	5664436		2203	4300	6503	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5664436G>C	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2320G>C	19.37:g.5664436G>C	ENSP00000292123:p.Glu774Gln					SAFB_uc002mcg.2_Missense_Mutation_p.E774Q|SAFB_uc002mce.3_Missense_Mutation_p.E773Q|SAFB_uc010xir.1_Missense_Mutation_p.E773Q|SAFB_uc010xis.1_Missense_Mutation_p.E705Q|SAFB_uc010xit.1_Missense_Mutation_p.E616Q|SAFB_uc010xiu.1_Missense_Mutation_p.E573Q	p.E774Q	NM_002967	NP_002958	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	17	2373	+			774			Interaction with SAFB2.|Interaction with POLR2A.|Arg-rich.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.2320G>C	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157133	0.57259	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.11495	2.79;2.95;2.79;2.77	5.04	5.04	0.67666	.	0.326861	0.22091	N	0.064745	T	0.13628	0.0330	L	0.33189	0.99	0.37476	D	0.915809	D;B;B;B;B;B;B	0.53885	0.963;0.18;0.275;0.18;0.18;0.18;0.18	P;B;B;B;B;B;B	0.47299	0.543;0.07;0.147;0.07;0.07;0.07;0.07	T	0.06338	-1.0832	10	0.40728	T	0.16	-14.4643	16.5634	0.84572	0.0:0.0:1.0:0.0	.	573;616;705;773;774;774;773	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	Q	705;669;604;774;616	ENSP00000415895:E705Q;ENSP00000404545:E604Q;ENSP00000292123:E774Q;ENSP00000438880:E616Q	ENSP00000292123:E774Q	E	+	1	0	SAFB	5615436	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.518000	0.73764	2.492000	0.84095	0.655000	0.94253	GAA		PASS	0.473	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			24	50	24	50	---	---	---	---
DUS3L	56931	broad.mit.edu	37	19	5790284	5790284	+	Missense_Mutation	SNP	C	C	T	rs145101341	byFrequency	TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:5790284C>T	ENST00000309061.7	-	2	257	c.161G>A	c.(160-162)tGc>tAc	p.C54Y	DUS3L_ENST00000320699.8_Missense_Mutation_p.C54Y|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	54							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)	p.C54Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GGTTTCCCGGCAAGTCTTCTC	0.577													C|||	9	0.00179712	0.0	0.0	5008	,	,		19882	0.0		0.0089	False		,,,				2504	0.0					uc002mdc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(160-162)TGC>TAC		dihydrouridine synthase 3-like isoform 1		C	TYR/CYS,TYR/CYS	1,4405	2.1+/-5.4	0,1,2202	78.0	73.0	75.0		161,161	2.0	0.2	19	dbSNP_134	75	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense	DUS3L	NM_001161619.1,NM_020175.2	194,194	0,10,6493	TT,TC,CC		0.1047,0.0227,0.0769	benign,benign	54/409,54/651	5790284	10,12996	2203	4300	6503	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5790284C>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.161G>A	19.37:g.5790284C>T	ENSP00000311977:p.Cys54Tyr					DUS3L_uc002mdd.2_Missense_Mutation_p.C54Y|DUS3L_uc010duk.2_5'UTR|DUS3L_uc010xiw.1_RNA	p.C54Y	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN			2	258	-			54					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.161G>A	CCDS32880.1	8	0.003663003663003663	0	0.0	0	0.0	0	0.0	8	0.010554089709762533	C	9.352	1.065735	0.20067	2.27E-4	0.001047	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.22539	2.33;1.95	4.53	1.97	0.26223	.	0.939570	0.09067	N	0.853396	T	0.08980	0.0222	N	0.22421	0.69	0.09310	N	1	B;B	0.28552	0.078;0.215	B;B	0.35899	0.213;0.014	T	0.35943	-0.9768	10	0.02654	T	1	-41.8254	5.7431	0.18104	0.0:0.6132:0.2294:0.1574	.	54;54	Q96G46-3;Q96G46	.;DUS3L_HUMAN	Y	54	ENSP00000311977:C54Y;ENSP00000315558:C54Y	ENSP00000311977:C54Y	C	-	2	0	DUS3L	5741284	0.000000	0.05858	0.221000	0.23827	0.529000	0.34654	-0.968000	0.03817	1.008000	0.39264	0.655000	0.94253	TGC		PASS	0.577	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		51	106	51	106	---	---	---	---
FUT5	2527	broad.mit.edu	37	19	5867626	5867626	+	Nonstop_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:5867626G>T	ENST00000586349.1	-	4	505	c.506C>A	c.(505-507)cC>cA	p.*169del	FUT5_ENST00000252675.5_Silent_p.S37S|FUT5_ENST00000588525.1_Silent_p.S37S														p.S37S(1)									CATCGTCTCGGGACACACGCA	0.652																																						uc002mdo.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(109-111)TCC>TCA		fucosyltransferase 5							40.0	38.0	39.0					19																	5867626		2203	4300	6503	SO:0001578	stop_lost	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867626G>T																												ENST00000586349.1:c.506C>A	19.37:g.5867626G>T	Exception_encountered					FUT5_uc010duo.2_Silent_p.S37S	p.S37S	NM_002034	NP_002025	Q11128	FUT5_HUMAN			2	199	-			37			Lumenal (Potential).			Silent	SNP	ENST00000586349.1	37	c.111C>A																																																																																					PASS	0.652	AC024592.12-002	PUTATIVE	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_candidate_longest|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000452249.1			25	65	25	65	---	---	---	---
ZNF558	148156	broad.mit.edu	37	19	8922260	8922260	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:8922260C>T	ENST00000601372.1	-	10	1617	c.906G>A	c.(904-906)agG>agA	p.R302R	ZNF558_ENST00000444186.2_Silent_p.R231R|ZNF558_ENST00000301475.1_Silent_p.R302R			Q96NG5	ZN558_HUMAN	zinc finger protein 558	302					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.R302R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						AGGAGCTCTTCCTGAAGGTTT	0.443																																						uc002mkn.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(904-906)AGG>AGA		zinc finger protein 558							102.0	97.0	99.0					19																	8922260		2203	4300	6503	SO:0001819	synonymous_variant	148156				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:8922260C>T	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.906G>A	19.37:g.8922260C>T						ZNF558_uc010xkh.1_Silent_p.R231R|ZNF558_uc010dwg.1_Silent_p.R302R	p.R302R	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN			6	1136	-			302			C2H2-type 6.		A8K5F0|B7Z798	Silent	SNP	ENST00000601372.1	37	c.906G>A	CCDS12208.1																																																																																				PASS	0.443	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693		68	109	68	109	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9057646	9057646	+	Missense_Mutation	SNP	T	T	C	rs372333082		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:9057646T>C	ENST00000397910.4	-	3	30003	c.29800A>G	c.(29800-29802)Atc>Gtc	p.I9934V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9936	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.I9934V(1)|p.I5567V(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGTGATGATGTCTGGAGAC	0.463																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(29800-29802)ATC>GTC		mucin 16							252.0	243.0	246.0					19																	9057646		2007	4170	6177	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057646T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29800A>G	19.37:g.9057646T>C	ENSP00000381008:p.Ile9934Val						p.I9934V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	30004	-			9936			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29800A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	2.810	-0.247267	0.05867	.	.	ENSG00000181143	ENST00000397910	T	0.02236	4.38	2.29	-0.0178	0.13967	.	.	.	.	.	T	0.01976	0.0062	L	0.27053	0.805	.	.	.	B	0.31077	0.307	B	0.34991	0.193	T	0.42865	-0.9426	8	0.87932	D	0	.	2.963	0.05899	0.2512:0.0:0.2586:0.4901	.	9934	B5ME49	.	V	9934	ENSP00000381008:I9934V	ENSP00000381008:I9934V	I	-	1	0	MUC16	8918646	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.771000	0.04699	-0.079000	0.12707	-0.710000	0.03640	ATC		PASS	0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		172	347	172	347	---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10084623	10084623	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:10084623C>A	ENST00000264828.3	-	48	3615	c.3530G>T	c.(3529-3531)cGg>cTg	p.R1177L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1177	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.R1177L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTGGGGACCCCGAGGACCTGG	0.577																																						uc002mmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(3529-3531)CGG>CTG		collagen, type V, alpha 3 preproprotein							44.0	55.0	51.0					19																	10084623		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10084623C>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3530G>T	19.37:g.10084623C>A	ENSP00000264828:p.Arg1177Leu						p.R1177L	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		48	3616	-			1177			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.3530G>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334553	0.81801	.	.	ENSG00000080573	ENST00000264828	D	0.94138	-3.36	4.84	3.76	0.43208	.	0.130454	0.38492	U	0.001678	D	0.93387	0.7891	L	0.41824	1.3	0.41948	D	0.990641	D	0.59357	0.985	P	0.62740	0.906	D	0.91042	0.4872	10	0.25751	T	0.34	.	12.4654	0.55755	0.0:0.8294:0.1706:0.0	.	1177	P25940	CO5A3_HUMAN	L	1177	ENSP00000264828:R1177L	ENSP00000264828:R1177L	R	-	2	0	COL5A3	9945623	0.626000	0.27120	1.000000	0.80357	0.947000	0.59692	3.719000	0.54926	0.951000	0.37770	0.484000	0.47621	CGG		PASS	0.577	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		35	75	35	75	---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10087287	10087287	+	Splice_Site	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:10087287C>A	ENST00000264828.3	-	45	3374	c.3289G>T	c.(3289-3291)Ggc>Tgc	p.G1097C		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1097	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.G1097C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCAGGTGGGCCCTGGGAGAAC	0.547																																						uc002mmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(3289-3291)GGC>TGC		collagen, type V, alpha 3 preproprotein							28.0	31.0	30.0					19																	10087287		2203	4300	6503	SO:0001630	splice_region_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10087287C>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3289-1G>T	19.37:g.10087287C>A							p.G1097C	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		45	3375	-			1097			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.3289G>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855699	0.71834	.	.	ENSG00000080573	ENST00000264828	D	0.98822	-5.16	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000001	D	0.99381	0.9782	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98421	1.0577	10	0.87932	D	0	.	12.5657	0.56308	0.0:1.0:0.0:0.0	.	1097	P25940	CO5A3_HUMAN	C	1097	ENSP00000264828:G1097C	ENSP00000264828:G1097C	G	-	1	0	COL5A3	9948287	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.045000	0.71020	2.334000	0.79466	0.313000	0.20887	GGC		PASS	0.547	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	Missense_Mutation	13	24	13	24	---	---	---	---
RLN3	117579	broad.mit.edu	37	19	14141727	14141727	+	Silent	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:14141727G>C	ENST00000431365.2	+	2	453	c.396G>C	c.(394-396)ggG>ggC	p.G132G	RLN3_ENST00000585987.1_3'UTR|IL27RA_ENST00000263379.2_5'Flank|CTB-55O6.4_ENST00000590528.1_RNA	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	132						extracellular region (GO:0005576)		p.G132G(1)		endometrium(1)|lung(4)	5						GCAAGTGGGGGTGTAGCAAAA	0.597																																						uc002mxw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(394-396)GGG>GGC		relaxin 3 preproprotein							52.0	56.0	55.0					19																	14141727		2195	4282	6477	SO:0001819	synonymous_variant	117579					extracellular region	hormone activity	g.chr19:14141727G>C	AF447451	CCDS12302.1	19p13.2	2013-02-26	2004-11-15					"""Endogenous ligands"""	17135	protein-coding gene	gene with protein product	"""prorelaxin H3"""	606855	"""relaxin 3 (H3)"""				Standard	NM_080864		Approved	ZINS4, RXN3, H3	uc002mxw.1	Q8WXF3		ENST00000431365.2:c.396G>C	19.37:g.14141727G>C						IL27RA_uc002mxx.2_5'Flank|RLN3_uc010dzj.1_3'UTR	p.G132G	NM_080864	NP_543140	Q8WXF3	REL3_HUMAN			2	396	+			132					Q6UXW5	Silent	SNP	ENST00000431365.2	37	c.396G>C	CCDS12302.1																																																																																				PASS	0.597	RLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458529.1			41	141	41	141	---	---	---	---
CYP4F22	126410	broad.mit.edu	37	19	15648391	15648391	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:15648391G>T	ENST00000269703.3	+	6	666	c.467G>T	c.(466-468)cGt>cTt	p.R156L	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R156L	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	156						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.R156L(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						AGCCGGCACCGTCGCCTGCTG	0.542																																						uc002nbh.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(466-468)CGT>CTT		cytochrome P450, family 4, subfamily F,							70.0	70.0	70.0					19																	15648391		2203	4300	6503	SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15648391G>T		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.467G>T	19.37:g.15648391G>T	ENSP00000269703:p.Arg156Leu						p.R156L	NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN			6	634	+			156					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.467G>T	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852204	0.91355	.	.	ENSG00000171954	ENST00000269703	D	0.85861	-2.04	5.27	5.27	0.74061	.	0.059415	0.64402	D	0.000003	D	0.94315	0.8173	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95577	0.8643	10	0.87932	D	0	.	16.4017	0.83642	0.0:0.0:1.0:0.0	.	156	Q6NT55	CP4FN_HUMAN	L	156	ENSP00000269703:R156L	ENSP00000269703:R156L	R	+	2	0	CYP4F22	15509391	1.000000	0.71417	0.978000	0.43139	0.906000	0.53458	9.294000	0.96088	2.475000	0.83589	0.313000	0.20887	CGT		PASS	0.542	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		53	83	53	83	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17086940	17086940	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:17086940T>G	ENST00000443236.1	-	16	1952	c.1921A>C	c.(1921-1923)Aat>Cat	p.N641H	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	594						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.N641H(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGGGTCTCATTTGCTGAATAC	0.547																																						uc002nfb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(1921-1923)AAT>CAT		C3 and PZP-like, alpha-2-macroglobulin domain							41.0	44.0	43.0					19																	17086940		2052	4196	6248	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17086940T>G	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1921A>C	19.37:g.17086940T>G	ENSP00000402505:p.Asn641His						p.N641H	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			16	1953	-			594					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.1921A>C	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.96|12.96	2.095409|2.095409	0.36952|0.36952	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	2.89|2.89	2.89|2.89	0.33648|0.33648	Alpha-2-macroglobulin, N-terminal 2 (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.69557|0.69557	0.3124|0.3124	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.75020|.	0.985|.	T|T	0.69007|0.69007	-0.5259|-0.5259	9|5	0.62326|.	D|.	0.03|.	.|.	11.2416|11.2416	0.48972|0.48972	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	594|.	Q8IZJ3|.	CPMD8_HUMAN|.	H|H	641|651	.|.	ENSP00000291440:N641H|.	N|Q	-|-	1|3	0|2	CPAMD8|CPAMD8	16947940|16947940	1.000000|1.000000	0.71417|0.71417	0.244000|0.244000	0.24202|0.24202	0.127000|0.127000	0.20565|0.20565	5.362000|5.362000	0.66098|0.66098	1.113000|1.113000	0.41760|0.41760	0.459000|0.459000	0.35465|0.35465	AAT|CAA		PASS	0.547	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		21	58	21	58	---	---	---	---
MPV17L2	84769	broad.mit.edu	37	19	18304774	18304774	+	Silent	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:18304774A>G	ENST00000599612.2	+	2	388	c.288A>G	c.(286-288)ccA>ccG	p.P96P		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	96						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.P96P(1)		large_intestine(1)|lung(2)|urinary_tract(1)	4						GAGGCTTCCCAAATGTCCTCA	0.587																																						uc002nid.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(286-288)CCA>CCG		MPV17 mitochondrial membrane protein-like 2							80.0	82.0	81.0					19																	18304774		2017	4181	6198	SO:0001819	synonymous_variant	84769					integral to membrane		g.chr19:18304774A>G	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.288A>G	19.37:g.18304774A>G						MPV17L2_uc010ebj.2_Silent_p.P32P	p.P96P	NM_032683	NP_116072	Q567V2	M17L2_HUMAN			2	340	+			96					Q96P34|Q96QA0|Q9BSG4	Silent	SNP	ENST00000599612.2	37	c.288A>G	CCDS42522.1																																																																																				PASS	0.587	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	NM_032683		31	77	31	77	---	---	---	---
ELL	8178	broad.mit.edu	37	19	18561352	18561352	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:18561352C>A	ENST00000262809.4	-	8	1471	c.1400G>T	c.(1399-1401)cGg>cTg	p.R467L	ELL_ENST00000596124.3_Missense_Mutation_p.R334L	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	467					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)	p.R467L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		AAGCTGGGCCCGGGGCTTGTC	0.687			T	MLL	AL																																	uc002njh.2				Dom	yes		19	19p13.1	8178	T	ELL gene (11-19 lysine-rich leukemia gene)			L	MLL		AL		1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1399-1401)CGG>CTG		elongation factor RNA polymerase II							43.0	36.0	39.0					19																	18561352		2202	4299	6501	SO:0001583	missense	8178				positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding	g.chr19:18561352C>A	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1400G>T	19.37:g.18561352C>A	ENSP00000262809:p.Arg467Leu					ELL_uc010ebq.2_Missense_Mutation_p.R410L|ELL_uc002njg.2_Missense_Mutation_p.R334L	p.R467L	NM_006532	NP_006523	P55199	ELL_HUMAN		GBM - Glioblastoma multiforme(1328;7.81e-07)	8	1472	-			467						Missense_Mutation	SNP	ENST00000262809.4	37	c.1400G>T	CCDS12380.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005804	0.35415	.	.	ENSG00000105656	ENST00000262809	T	0.24723	1.84	4.94	-8.7	0.00851	.	1.660870	0.03438	N	0.208872	T	0.15089	0.0364	N	0.25647	0.755	0.09310	N	1	B;B	0.25743	0.133;0.057	B;B	0.17433	0.018;0.011	T	0.10870	-1.0611	10	0.30854	T	0.27	-14.2251	9.9036	0.41362	0.0:0.2017:0.1167:0.6816	.	411;467	Q59HG4;P55199	.;ELL_HUMAN	L	467	ENSP00000262809:R467L	ENSP00000262809:R467L	R	-	2	0	ELL	18422352	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.567000	0.05916	-1.554000	0.01700	-0.366000	0.07423	CGG		PASS	0.687	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		57	39	57	39	---	---	---	---
UPF1	5976	broad.mit.edu	37	19	18961004	18961004	+	Silent	SNP	C	C	T	rs546083993		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:18961004C>T	ENST00000599848.1	+	4	791	c.582C>T	c.(580-582)ctC>ctT	p.L194L	UPF1_ENST00000600310.1_3'UTR|UPF1_ENST00000262803.5_Silent_p.L194L			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	194	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.L194L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TCTTCCTCCTCGGCTTCATCC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18037	0.0		0.0	False		,,,				2504	0.001					uc002nkg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(580-582)CTC>CTT		regulator of nonsense transcripts 1							96.0	90.0	92.0					19																	18961004		2203	4300	6503	SO:0001819	synonymous_variant	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	g.chr19:18961004C>T	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.582C>T	19.37:g.18961004C>T						UPF1_uc002nkf.2_Silent_p.L194L	p.L194L	NM_002911	NP_002902	Q92900	RENT1_HUMAN			4	857	+			194			Sufficient for interaction with RENT2.|C4-type.		O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37	c.582C>T																																																																																					PASS	0.607	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		60	128	60	128	---	---	---	---
ZNF85	7639	broad.mit.edu	37	19	21132690	21132690	+	Missense_Mutation	SNP	A	A	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:21132690A>C	ENST00000328178.8	+	4	1483	c.1370A>C	c.(1369-1371)gAa>gCa	p.E457A	ZNF85_ENST00000345030.6_Missense_Mutation_p.E424A|ZNF85_ENST00000601023.1_Missense_Mutation_p.E398A	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	457					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)|transcription corepressor activity (GO:0003714)	p.E457A(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TATGAATGTGAAAAATGTGGC	0.333																																						uc002npg.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1369-1371)GAA>GCA		zinc finger protein 85							22.0	23.0	23.0					19																	21132690		2201	4293	6494	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132690A>C	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1370A>C	19.37:g.21132690A>C	ENSP00000329793:p.Glu457Ala					ZNF85_uc010ecn.2_Missense_Mutation_p.E392A|ZNF85_uc010eco.2_Missense_Mutation_p.E405A|ZNF85_uc002npi.2_Missense_Mutation_p.E398A	p.E457A	NM_003429	NP_003420	Q03923	ZNF85_HUMAN			4	1497	+			457			C2H2-type 12.		B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.1370A>C	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	5.148	0.212847	0.09757	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.07444	3.19;3.19	1.35	-2.7	0.06004	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15522	0.0374	L	0.41632	1.29	0.09310	N	1	D;D;P	0.58268	0.982;0.979;0.918	P;D;P	0.74023	0.841;0.982;0.806	T	0.16778	-1.0391	9	0.54805	T	0.06	.	7.8622	0.29516	0.4344:0.5655:0.0:0.0	.	424;398;457	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	A	457;424;332	ENSP00000329793:E457A;ENSP00000342340:E424A	ENSP00000329793:E457A	E	+	2	0	ZNF85	20924530	0.000000	0.05858	0.132000	0.22025	0.066000	0.16364	-0.524000	0.06222	-0.285000	0.09089	-0.689000	0.03729	GAA		PASS	0.333	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		9	33	9	33	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22940721	22940721	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:22940721G>T	ENST00000596209.1	-	4	2080	c.1990C>A	c.(1990-1992)Ctt>Att	p.L664I	ZNF99_ENST00000397104.3_Missense_Mutation_p.L573I	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	664					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.L573I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTCTAGTAAGGTGTGAGGAC	0.378																																						uc010xrh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1717-1719)CTT>ATT		zinc finger protein 99							54.0	56.0	55.0					19																	22940721		2145	4257	6402	SO:0001583	missense	7652							g.chr19:22940721G>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1990C>A	19.37:g.22940721G>T	ENSP00000472969:p.Leu664Ile						p.L573I	NM_001080409	NP_001073878					5	1717	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1717C>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	10.75	1.437570	0.25900	.	.	ENSG00000213973	ENST00000397104	T	0.53857	0.6	1.29	1.29	0.21616	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64450	0.2599	L	0.53671	1.685	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51996	-0.8634	9	0.66056	D	0.02	.	9.5079	0.39058	0.0:0.0:1.0:0.0	.	573	A8MXY4	ZNF99_HUMAN	I	573	ENSP00000380293:L573I	ENSP00000380293:L573I	L	-	1	0	ZNF99	22732561	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.360000	0.07622	0.680000	0.31366	0.400000	0.26472	CTT		PASS	0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		18	37	18	37	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23542322	23542322	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:23542322C>G	ENST00000300619.7	-	4	3664	c.3459G>C	c.(3457-3459)aaG>aaC	p.K1153N	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.K1121N	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1153					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.K1153N(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TATGAATTTTCTTATGGTTAG	0.438																																						uc002nre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3457-3459)AAG>AAC		zinc finger protein 91							50.0	58.0	55.0					19																	23542322		2152	4263	6415	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23542322C>G	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.3459G>C	19.37:g.23542322C>G	ENSP00000300619:p.Lys1153Asn					ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.K1121N	p.K1153N	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	3572	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	1153			C2H2-type 36.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.3459G>C	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449129	0.26074	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.05996	3.4;3.36	0.474	-0.687	0.11320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08537	0.0212	N	0.14661	0.345	0.23795	N	0.996822	D;D	0.89917	1.0;0.995	D;P	0.77557	0.99;0.807	T	0.29852	-0.9998	9	0.59425	D	0.04	.	3.2733	0.06889	0.0:0.4986:0.2725:0.2288	.	1121;1153	Q05481-2;Q05481	.;ZNF91_HUMAN	N	1153;1121	ENSP00000300619:K1153N;ENSP00000380272:K1121N	ENSP00000300619:K1153N	K	-	3	2	ZNF91	23334162	0.001000	0.12720	0.004000	0.12327	0.132000	0.20833	0.763000	0.26517	-0.317000	0.08677	0.306000	0.20318	AAG		PASS	0.438	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		20	59	20	59	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769848	31769848	+	Missense_Mutation	SNP	A	A	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:31769848A>C	ENST00000240587.4	-	2	1178	c.851T>G	c.(850-852)tTt>tGt	p.F284C		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	284					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F101C(1)|p.F284C(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CAGGGACTCAAAGGAGTGGCC	0.522																																						uc002nsy.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(850-852)TTT>TGT		zinc finger protein 537							127.0	113.0	118.0					19																	31769848		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769848A>C	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.851T>G	19.37:g.31769848A>C	ENSP00000240587:p.Phe284Cys						p.F284C	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	916	-	Esophageal squamous(110;0.226)		284			C2H2-type 2.		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.851T>G	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	A	17.59	3.428045	0.62844	.	.	ENSG00000121297	ENST00000240587	T	0.40756	1.02	5.67	5.67	0.87782	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.59891	0.2227	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	D	0.68943	0.961	T	0.62863	-0.6764	10	0.87932	D	0	-23.9927	15.9132	0.79488	1.0:0.0:0.0:0.0	.	284	Q63HK5	TSH3_HUMAN	C	284	ENSP00000240587:F284C	ENSP00000240587:F284C	F	-	2	0	TSHZ3	36461688	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	8.962000	0.93254	2.148000	0.66965	0.533000	0.62120	TTT		PASS	0.522	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		66	118	66	118	---	---	---	---
KRTDAP	388533	broad.mit.edu	37	19	35981310	35981310	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:35981310A>G	ENST00000338897.3	-	1	123	c.35T>C	c.(34-36)cTc>cCc	p.L12P	KRTDAP_ENST00000479340.1_Intron|KRTDAP_ENST00000484218.2_Missense_Mutation_p.L12P	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	12					cell differentiation (GO:0030154)	extracellular region (GO:0005576)		p.L12P(1)		breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAGGAGGGAGAGGAGCACCAC	0.577																																						uc002nzh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)CTC>CCC		keratinocyte differentiation-associated protein							137.0	105.0	116.0					19																	35981310		2203	4300	6503	SO:0001583	missense	388533				cell differentiation	extracellular region		g.chr19:35981310A>G	AA297512	CCDS12462.1, CCDS59377.1	19q13.12	2013-06-20			ENSG00000188508	ENSG00000188508			16313	protein-coding gene	gene with protein product						11054531	Standard	NM_207392		Approved	KDAP, UNQ467	uc002nzh.3	P60985	OTTHUMG00000155449	ENST00000338897.3:c.35T>C	19.37:g.35981310A>G	ENSP00000339251:p.Leu12Pro						p.L12P	NM_207392	NP_997275	P60985	KTDAP_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	47	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		12					A1L4D7	Missense_Mutation	SNP	ENST00000338897.3	37	c.35T>C	CCDS12462.1	.	.	.	.	.	.	.	.	.	.	A	12.39	1.924028	0.34002	.	.	ENSG00000188508	ENST00000338897	.	.	.	4.92	4.92	0.64577	.	0.401401	0.21479	N	0.073875	T	0.77280	0.4107	.	.	.	0.44918	D	0.997938	D	0.89917	1.0	D	0.72075	0.976	T	0.79736	-0.1678	8	0.87932	D	0	-65.9225	10.8582	0.46810	1.0:0.0:0.0:0.0	.	12	P60985	KTDAP_HUMAN	P	12	.	ENSP00000339251:L12P	L	-	2	0	KRTDAP	40673150	1.000000	0.71417	0.259000	0.24435	0.019000	0.09904	3.945000	0.56637	2.073000	0.62155	0.379000	0.24179	CTC		PASS	0.577	KRTDAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340164.1			80	123	80	123	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36218436	36218436	+	Silent	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:36218436G>C	ENST00000222270.7	+	16	4215	c.4215G>C	c.(4213-4215)ctG>ctC	p.L1405L	KMT2B_ENST00000420124.1_Silent_p.L1405L|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1405					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L1407L(2)									GAGAGGCCCTGAGCGGGGCCC	0.687																																						uc010eei.2																			2	Substitution - coding silent(2)		urinary_tract(1)|lung(1)	central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(4213-4215)CTG>CTC		myeloid/lymphoid or mixed-lineage leukemia 4							47.0	50.0	49.0					19																	36218436		1880	4073	5953	SO:0001819	synonymous_variant	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36218436G>C	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4215G>C	19.37:g.36218436G>C							p.L1405L	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		17	4215	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1405					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.4215G>C	CCDS46055.1																																																																																				PASS	0.687	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		29	113	29	113	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36223339	36223339	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:36223339G>A	ENST00000222270.7	+	28	5889	c.5889G>A	c.(5887-5889)ccG>ccA	p.P1963P	KMT2B_ENST00000420124.1_Silent_p.P1963P|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1963	Poly-Pro.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P1965P(1)									CCCCTGGCCCGGCCCCATCTC	0.657																																						uc010eei.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(5887-5889)CCG>CCA		myeloid/lymphoid or mixed-lineage leukemia 4							32.0	38.0	36.0					19																	36223339		1961	4139	6100	SO:0001819	synonymous_variant	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36223339G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5889G>A	19.37:g.36223339G>A							p.P1963P	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		29	5889	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1963			Poly-Pro.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.5889G>A	CCDS46055.1																																																																																				PASS	0.657	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		4	48	4	48	---	---	---	---
ZFP30	22835	broad.mit.edu	37	19	38127064	38127064	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:38127064C>A	ENST00000351218.2	-	6	935	c.378G>T	c.(376-378)agG>agT	p.R126S	ZFP30_ENST00000514101.2_Missense_Mutation_p.R126S|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Missense_Mutation_p.R126S	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	126					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.R126S(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGTCACTTGCCTGAAACACA	0.373																																						uc002ogv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(376-378)AGG>AGT		zinc finger protein 30 homolog							81.0	83.0	83.0					19																	38127064		2203	4300	6503	SO:0001583	missense	22835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38127064C>A	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.378G>T	19.37:g.38127064C>A	ENSP00000343581:p.Arg126Ser					ZFP30_uc002ogw.1_Missense_Mutation_p.R126S|ZFP30_uc002ogx.1_Missense_Mutation_p.R126S|ZFP30_uc010xtt.1_Missense_Mutation_p.R125S	p.R126S	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	894	-			126					Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	c.378G>T	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.040568	0.00402	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.05382	3.45;3.45;3.45	3.95	-4.52	0.03472	.	1.087730	0.07225	N	0.861491	T	0.02610	0.0079	N	0.17082	0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.46359	-0.9197	10	0.07644	T	0.81	.	1.4188	0.02307	0.1376:0.3882:0.1343:0.3398	.	126;126	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	S	126;126;126;125	ENSP00000343581:R126S;ENSP00000422930:R126S;ENSP00000375988:R126S	ENSP00000343581:R126S	R	-	3	2	ZFP30	42818904	0.031000	0.19500	0.669000	0.29828	0.006000	0.05464	-0.339000	0.07832	-0.823000	0.04301	-1.804000	0.00617	AGG		PASS	0.373	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898		35	77	35	77	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38882899	38882899	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:38882899G>T	ENST00000338502.4	+	3	497	c.394G>T	c.(394-396)Gat>Tat	p.D132Y	SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000587013.1_Missense_Mutation_p.D176Y|SPRED3_ENST00000586301.1_Missense_Mutation_p.D132Y	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	132	Ser-rich.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)		p.D132Y(2)		central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			tcctTCCCAGGATACTGCAGA	0.582																																						uc002oim.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|lung(1)|skin(1)	4						c.(394-396)GAT>TAT		sprouty-related, EVH1 domain containing 3							32.0	37.0	35.0					19																	38882899		1975	4162	6137	SO:0001583	missense	399473				multicellular organismal development			g.chr19:38882899G>T		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.394G>T	19.37:g.38882899G>T	ENSP00000345405:p.Asp132Tyr					SPRED3_uc002oil.1_Missense_Mutation_p.D132Y	p.D132Y	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	398	+	all_cancers(60;3.4e-06)		132			Ser-rich.		Q2MJR1	Missense_Mutation	SNP	ENST00000338502.4	37	c.394G>T	CCDS42560.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377765	0.61735	.	.	ENSG00000188766	ENST00000338502;ENST00000396877	D	0.82344	-1.6	3.5	3.5	0.40072	.	0.656344	0.13486	N	0.384351	D	0.83552	0.5279	N	0.24115	0.695	0.35897	D	0.83008	D;D	0.71674	0.998;0.998	D;D	0.67725	0.953;0.953	D	0.86015	0.1503	10	0.87932	D	0	-18.4843	11.2261	0.48884	0.0:0.0:1.0:0.0	.	132;132	Q2MJR0;Q2MJR1	SPRE3_HUMAN;.	Y	132	ENSP00000345405:D132Y	ENSP00000345405:D132Y	D	+	1	0	SPRED3	43574739	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.102000	0.57776	1.903000	0.55091	0.462000	0.41574	GAT		PASS	0.582	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		6	10	6	10	---	---	---	---
NCCRP1	342897	broad.mit.edu	37	19	39688711	39688711	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:39688711C>A	ENST00000339852.4	+	2	378	c.356C>A	c.(355-357)cCa>cAa	p.P119Q		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	119	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.P119Q(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						ATTTATGAGCCAGCACCCCCT	0.627																																					Melanoma(107;1207 1556 14956 29427 52130)	uc002okq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(355-357)CCA>CAA		non-specific cytotoxic cell receptor protein 1							86.0	89.0	88.0					19																	39688711		2203	4300	6503	SO:0001583	missense	342897				protein catabolic process			g.chr19:39688711C>A	AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.356C>A	19.37:g.39688711C>A	ENSP00000342137:p.Pro119Gln						p.P119Q	NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN			2	375	+			119			FBA.		Q6NVV5	Missense_Mutation	SNP	ENST00000339852.4	37	c.356C>A	CCDS12529.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395642	0.62177	.	.	ENSG00000188505	ENST00000339852	T	0.28895	1.59	4.29	4.29	0.51040	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.640341	0.14792	N	0.298169	T	0.49490	0.1560	L	0.59436	1.845	0.49582	D	0.999801	D	0.89917	1.0	D	0.91635	0.999	T	0.29882	-0.9997	10	0.33940	T	0.23	-7.7766	12.0875	0.53706	0.0:1.0:0.0:0.0	.	119	Q6ZVX7	NCRP1_HUMAN	Q	119	ENSP00000342137:P119Q	ENSP00000342137:P119Q	P	+	2	0	NCCRP1	44380551	0.973000	0.33851	0.998000	0.56505	0.954000	0.61252	2.192000	0.42649	2.205000	0.71048	0.561000	0.74099	CCA		PASS	0.627	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		4	162	4	162	---	---	---	---
ZNF780B	163131	broad.mit.edu	37	19	40541700	40541700	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:40541700T>C	ENST00000434248.1	-	5	1131	c.1066A>G	c.(1066-1068)Atg>Gtg	p.M356V	ZNF780B_ENST00000221355.6_Missense_Mutation_p.M208V	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	356					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.M356V(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTCTCACCCATATGAATCTTC	0.423																																						uc002omu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1066-1068)ATG>GTG		zinc finger protein 780B							65.0	69.0	68.0					19																	40541700		2202	4300	6502	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40541700T>C	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1066A>G	19.37:g.40541700T>C	ENSP00000391641:p.Met356Val					ZNF780B_uc002omv.2_Missense_Mutation_p.M208V	p.M356V	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN			5	1131	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		356					B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.1066A>G	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	T	7.436	0.639756	0.14386	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.17691	2.26;2.26	2.21	-0.0911	0.13662	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08179	0.0204	N	0.05383	-0.06	0.18873	N	0.999986	B	0.13594	0.008	B	0.18263	0.021	T	0.32666	-0.9898	9	0.72032	D	0.01	.	5.4751	0.16692	0.0:0.2993:0.0:0.7007	.	356	Q9Y6R6	Z780B_HUMAN	V	356;208	ENSP00000391641:M356V;ENSP00000221355:M208V	ENSP00000221355:M208V	M	-	1	0	ZNF780B	45233540	0.573000	0.26676	0.005000	0.12908	0.002000	0.02628	1.539000	0.36104	-0.444000	0.07170	-0.818000	0.03119	ATG		PASS	0.423	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		52	63	52	63	---	---	---	---
ITPKC	80271	broad.mit.edu	37	19	41242989	41242989	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:41242989C>G	ENST00000263370.2	+	5	1806	c.1773C>G	c.(1771-1773)atC>atG	p.I591M		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	591					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.I591M(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACCACGTCATCCTGGTGAGTG	0.532																																						uc002oot.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1771-1773)ATC>ATG		inositol 1,4,5-trisphosphate 3-kinase C							111.0	75.0	87.0					19																	41242989		2200	4294	6494	SO:0001583	missense	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41242989C>G	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1773C>G	19.37:g.41242989C>G	ENSP00000263370:p.Ile591Met						p.I591M	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		5	1806	+			591					Q9UE25|Q9Y475	Missense_Mutation	SNP	ENST00000263370.2	37	c.1773C>G	CCDS12563.1	.	.	.	.	.	.	.	.	.	.	C	9.313	1.055956	0.19907	.	.	ENSG00000086544	ENST00000263370	T	0.15017	2.46	5.03	2.86	0.33363	.	0.368078	0.29466	N	0.012071	T	0.40862	0.1134	M	0.87180	2.865	0.45822	D	0.99869	D	0.53462	0.96	D	0.68353	0.957	T	0.33369	-0.9871	10	0.87932	D	0	-8.3521	7.0449	0.25040	0.0:0.6644:0.0:0.3356	.	591	Q96DU7	IP3KC_HUMAN	M	591	ENSP00000263370:I591M	ENSP00000263370:I591M	I	+	3	3	ITPKC	45934829	0.962000	0.33011	0.988000	0.46212	0.128000	0.20619	0.565000	0.23578	1.267000	0.44247	0.650000	0.86243	ATC		PASS	0.532	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		5	10	5	10	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42860341	42860341	+	Nonsense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:42860341C>G	ENST00000251268.6	+	25	4499	c.4499C>G	c.(4498-4500)tCa>tGa	p.S1500*	MEGF8_ENST00000334370.4_Nonsense_Mutation_p.S1433*	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1500					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.S1500*(1)|p.S1041*(1)|p.S1433*(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGCCGCCTCTCAGCCGTGAGT	0.657																																						uc002otl.3																			3	Substitution - Nonsense(3)		lung(3)	ovary(1)	1						c.(4297-4299)TCA>TGA		multiple EGF-like-domains 8							21.0	21.0	21.0					19																	42860341		2190	4271	6461	SO:0001587	stop_gained	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42860341C>G	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4499C>G	19.37:g.42860341C>G	ENSP00000251268:p.Ser1500*					MEGF8_uc002otm.3_Nonsense_Mutation_p.S1041*	p.S1433*	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			24	4933	+		Prostate(69;0.00682)	1500			Extracellular (Potential).		A8KAY0|O75097	Nonsense_Mutation	SNP	ENST00000251268.6	37	c.4298C>G		.	.	.	.	.	.	.	.	.	.	C	48	14.454758	0.99796	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	4.5	4.5	0.54988	.	0.209309	0.31949	N	0.006818	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-8.1087	16.1377	0.81497	0.0:1.0:0.0:0.0	.	.	.	.	X	1433;1500	.	ENSP00000251268:S1500X	S	+	2	0	MEGF8	47552181	0.928000	0.31464	1.000000	0.80357	0.967000	0.64934	2.525000	0.45598	2.350000	0.79820	0.563000	0.77884	TCA		PASS	0.657	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		3	3	3	3	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42879930	42879930	+	Missense_Mutation	SNP	G	G	T	rs369692848	byFrequency	TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:42879930G>T	ENST00000251268.6	+	42	7541	c.7541G>T	c.(7540-7542)cGt>cTt	p.R2514L	MEGF8_ENST00000378073.4_Missense_Mutation_p.R108L|MEGF8_ENST00000334370.4_Missense_Mutation_p.R2447L	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2514					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.R2514L(1)|p.R2055L(1)|p.R2447L(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TTCGTGGTCCGTGTGGCCCCT	0.652																																						uc002otl.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(7339-7341)CGT>CTT		multiple EGF-like-domains 8							53.0	31.0	39.0					19																	42879930		2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42879930G>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7541G>T	19.37:g.42879930G>T	ENSP00000251268:p.Arg2514Leu					MEGF8_uc002otm.3_Missense_Mutation_p.R2055L|MEGF8_uc002otn.3_Missense_Mutation_p.R108L	p.R2447L	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			41	7975	+		Prostate(69;0.00682)	2514			Extracellular (Potential).		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.7340G>T		.	.	.	.	.	.	.	.	.	.	g	15.19	2.760226	0.49468	.	.	ENSG00000105429	ENST00000334370;ENST00000251268;ENST00000378073	T;T	0.20881	2.04;2.04	5.06	5.06	0.68205	.	0.234783	0.37053	N	0.002267	T	0.12135	0.0295	N	0.19112	0.55	0.43430	D	0.995592	P;P;P	0.49447	0.892;0.924;0.892	B;B;B	0.38712	0.205;0.2;0.28	T	0.01706	-1.1291	10	0.59425	D	0.04	-20.1541	8.1691	0.31243	0.1731:0.0:0.8269:0.0	.	108;2514;2447	F5GZG7;Q7Z7M0;Q7Z7M0-2	.;MEGF8_HUMAN;.	L	2447;2514;108	ENSP00000334219:R2447L;ENSP00000251268:R2514L	ENSP00000251268:R2514L	R	+	2	0	MEGF8	47571770	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	4.663000	0.61532	2.532000	0.85374	0.651000	0.88453	CGT		PASS	0.652	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		16	29	16	29	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47422255	47422255	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:47422255A>G	ENST00000404338.3	+	1	323	c.323A>G	c.(322-324)cAt>cGt	p.H108R		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	108					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.H108R(2)									TTTCAACCTCATCGAAGCACG	0.493																																						uc010ekv.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(322-324)CAT>CGT		glucocorticoid receptor DNA binding factor 1							101.0	101.0	101.0					19																	47422255		1951	4149	6100	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47422255A>G	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.323A>G	19.37:g.47422255A>G	ENSP00000385720:p.His108Arg						p.H108R	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	323	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	108					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.323A>G	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.175781	0.57692	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.08008	3.14	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.28599	0.0708	M	0.72479	2.2	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.00726	-1.1592	10	0.66056	D	0.02	-22.9075	15.3582	0.74443	1.0:0.0:0.0:0.0	.	108	Q9NRY4-2	.	R	108	ENSP00000385720:H108R	ENSP00000324820:H108R	H	+	2	0	ARHGAP35	52114095	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	9.339000	0.96797	2.270000	0.75569	0.460000	0.39030	CAT		PASS	0.493	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		59	141	59	141	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47968997	47968997	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:47968997C>A	ENST00000236877.6	-	2	1059	c.664G>T	c.(664-666)Ggt>Tgt	p.G222C	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	222					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)	p.G222C(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TGGACCACACCGGGGGAAAAA	0.498																																						uc002pgx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(664-666)GGT>TGT		solute carrier family 8 member 2 precursor							54.0	37.0	43.0					19																	47968997		2203	4300	6503	SO:0001583	missense	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47968997C>A	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.664G>T	19.37:g.47968997C>A	ENSP00000236877:p.Gly222Cys					SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.G222C	p.G222C	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	2	942	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	222			Extracellular (Potential).		B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	c.664G>T	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	C	9.762	1.170466	0.21621	.	.	ENSG00000118160	ENST00000391903;ENST00000236877	T	0.68181	-0.31	4.16	4.16	0.48862	Sodium/calcium exchanger membrane region (1);	0.130662	0.51477	D	0.000084	D	0.85396	0.5687	H	0.96015	3.755	0.45899	D	0.998748	D;D	0.89917	1.0;1.0	D;D	0.87578	0.989;0.998	D	0.87926	0.2707	10	0.87932	D	0	.	9.2297	0.37430	0.0:0.8988:0.0:0.1012	.	50;222	E9PGS7;Q9UPR5	.;NAC2_HUMAN	C	50;222	ENSP00000236877:G222C	ENSP00000236877:G222C	G	-	1	0	SLC8A2	52660809	0.849000	0.29639	0.066000	0.19879	0.130000	0.20726	2.567000	0.45956	2.164000	0.68074	0.555000	0.69702	GGT		PASS	0.498	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			6	11	6	11	---	---	---	---
SYT3	84258	broad.mit.edu	37	19	51135922	51135922	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:51135922C>T	ENST00000338916.4	-	2	928	c.295G>A	c.(295-297)Gac>Aac	p.D99N	SYT3_ENST00000544769.1_Missense_Mutation_p.D99N|SYT3_ENST00000593901.1_Missense_Mutation_p.D99N|SYT3_ENST00000600079.1_Missense_Mutation_p.D99N	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	99					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.D99N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGGCCTAGGTCTTTGCGCAGG	0.697																																						uc002pst.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(295-297)GAC>AAC		synaptotagmin III							39.0	43.0	42.0					19																	51135922		2203	4299	6502	SO:0001583	missense	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51135922C>T	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.295G>A	19.37:g.51135922C>T	ENSP00000340914:p.Asp99Asn					SYT3_uc002psv.2_Missense_Mutation_p.D99N|SYT3_uc010ycd.1_Missense_Mutation_p.D99N	p.D99N	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	2	929	-		all_neural(266;0.131)	99			Cytoplasmic (Potential).		Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	c.295G>A	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119663	0.56613	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.59083	0.29;0.29	4.71	3.58	0.41010	.	0.107337	0.38326	U	0.001726	T	0.34366	0.0895	N	0.08118	0	0.40159	D	0.977047	B	0.15930	0.015	B	0.09377	0.004	T	0.16247	-1.0409	10	0.20046	T	0.44	.	13.2672	0.60141	0.1598:0.8402:0.0:0.0	.	99	Q9BQG1	SYT3_HUMAN	N	99	ENSP00000340914:D99N;ENSP00000438883:D99N	ENSP00000340914:D99N	D	-	1	0	SYT3	55827734	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.296000	0.51802	2.536000	0.85505	0.563000	0.77884	GAC		PASS	0.697	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		21	31	21	31	---	---	---	---
ZNF610	162963	broad.mit.edu	37	19	52856995	52856995	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:52856995G>T	ENST00000403906.3	+	4	580	c.124G>T	c.(124-126)Gac>Tac	p.D42Y	ZNF610_ENST00000601151.1_Missense_Mutation_p.D42Y|ZNF610_ENST00000321287.8_Missense_Mutation_p.D42Y|ZNF610_ENST00000327920.8_Missense_Mutation_p.D42Y	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	42	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.D42Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GAAATCCCTGGACCCTGGACA	0.493																																						uc002pyx.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(124-126)GAC>TAC		zinc finger protein 610 isoform a							104.0	102.0	102.0					19																	52856995		2203	4300	6503	SO:0001583	missense	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52856995G>T	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.124G>T	19.37:g.52856995G>T	ENSP00000383922:p.Asp42Tyr					ZNF610_uc002pyy.3_Missense_Mutation_p.D42Y|ZNF610_uc002pyz.3_Missense_Mutation_p.D42Y|ZNF610_uc002pza.2_Missense_Mutation_p.D42Y	p.D42Y	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	4	530	+			42			KRAB.		A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	c.124G>T	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	G	0.602	-0.828518	0.02734	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T;T	0.02863	4.13;4.13;4.13	1.47	0.397	0.16314	Krueppel-associated box (4);	.	.	.	.	T	0.18964	0.0455	H	0.95079	3.62	0.26060	N	0.98136	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	T	0.02484	-1.1152	9	0.87932	D	0	.	7.5967	0.28052	0.0:0.2687:0.7313:0.0	.	42;42	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	Y	42	ENSP00000383922:D42Y;ENSP00000324441:D42Y;ENSP00000327597:D42Y	ENSP00000324441:D42Y	D	+	1	0	ZNF610	57548807	0.934000	0.31675	0.771000	0.31576	0.187000	0.23431	1.357000	0.34090	0.193000	0.20303	-0.216000	0.12614	GAC		PASS	0.493	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		40	86	40	86	---	---	---	---
ZNF534	147658	broad.mit.edu	37	19	52941112	52941112	+	Missense_Mutation	SNP	G	G	T	rs377218145		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:52941112G>T	ENST00000332323.6	+	4	499	c.438G>T	c.(436-438)aaG>aaT	p.K146N	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.K133N	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	146					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.K146N(1)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ATGGATGTAAGCATGTTGAGA	0.323																																						uc002pzk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)AAG>AAT		zinc finger protein 534 isoform 2							90.0	80.0	83.0					19																	52941112		1568	3582	5150	SO:0001583	missense	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52941112G>T	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.438G>T	19.37:g.52941112G>T	ENSP00000327538:p.Lys146Asn					ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.K133N	p.K146N	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			4	499	+			146					Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	c.438G>T	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	G	0.343	-0.949281	0.02304	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.06449	3.35;3.3	1.62	0.428	0.16499	.	.	.	.	.	T	0.02418	0.0074	N	0.16708	0.43	0.09310	N	1	B;B	0.32071	0.001;0.355	B;B	0.24974	0.004;0.057	T	0.38929	-0.9638	9	0.02654	T	1	.	2.3713	0.04331	0.2654:0.0:0.2882:0.4463	.	133;146	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	N	146;133;145	ENSP00000327538:K146N;ENSP00000391358:K133N	ENSP00000327538:K146N	K	+	3	2	ZNF534	57632924	0.000000	0.05858	0.001000	0.08648	0.313000	0.28021	-0.878000	0.04192	-0.119000	0.11830	0.205000	0.17691	AAG		PASS	0.323	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		23	57	23	57	---	---	---	---
ZNF701	55762	broad.mit.edu	37	19	53086642	53086642	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:53086642G>T	ENST00000540331.1	+	5	1753	c.1528G>T	c.(1528-1530)Ggc>Tgc	p.G510C	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.G444C|ZNF701_ENST00000301093.2_Missense_Mutation_p.G510C	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	510					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.G444C(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TAATGAATGTGGCAAGGTTTT	0.353																																					NSCLC(89;451 1475 9611 20673 52284)	uc002pzs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1330-1332)GGC>TGC		zinc finger protein 701							41.0	40.0	40.0					19																	53086642		2198	4295	6493	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53086642G>T	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1528G>T	19.37:g.53086642G>T	ENSP00000444339:p.Gly510Cys					ZNF701_uc010ydn.1_Missense_Mutation_p.G510C	p.G444C	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	4	1457	+			444			C2H2-type 7.		A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.1330G>T	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332033	0.41297	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.37411	1.2;1.2;1.2	1.94	0.753	0.18404	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59059	0.2166	M	0.87900	2.915	0.22827	N	0.998682	D;D	0.76494	0.999;0.993	D;P	0.66602	0.945;0.629	T	0.49322	-0.8952	9	0.87932	D	0	.	9.0168	0.36175	0.0:0.2306:0.7694:0.0	.	510;444	F5GZM6;Q9NV72	.;ZN701_HUMAN	C	444;510;510	ENSP00000375662:G444C;ENSP00000301093:G510C;ENSP00000444339:G510C	ENSP00000301093:G510C	G	+	1	0	ZNF701	57778454	0.565000	0.26610	0.022000	0.16811	0.140000	0.21249	1.072000	0.30678	0.122000	0.18314	0.456000	0.33151	GGC		PASS	0.353	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		17	24	17	24	---	---	---	---
ZNF765	91661	broad.mit.edu	37	19	53911449	53911449	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:53911449C>G	ENST00000396408.3	+	4	758	c.641C>G	c.(640-642)tCt>tGt	p.S214C	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	214					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.S214C(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		AGGGAAAAATCTTTCCAATGC	0.338																																						uc010ydx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(640-642)TCT>TGT		zinc finger protein 765							69.0	70.0	69.0					19																	53911449		2186	4287	6473	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53911449C>G	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.641C>G	19.37:g.53911449C>G	ENSP00000379689:p.Ser214Cys					ZNF765_uc002qbm.2_Missense_Mutation_p.S214C|ZNF765_uc002qbn.2_Intron	p.S214C	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	6	968	+			214					A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.641C>G	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761065	0.31137	.	.	ENSG00000196417	ENST00000396408	T	0.15603	2.41	0.439	-0.779	0.10973	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28566	0.0707	L	0.59912	1.85	0.09310	N	1	D	0.76494	0.999	D	0.67900	0.954	T	0.12016	-1.0564	8	.	.	.	.	4.3157	0.10991	0.0:0.6773:0.0:0.3227	.	214	Q7L2R6	ZN765_HUMAN	C	214	ENSP00000379689:S214C	.	S	+	2	0	ZNF765	58603261	0.000000	0.05858	0.002000	0.10522	0.075000	0.17131	0.648000	0.24828	-0.438000	0.07232	0.174000	0.16983	TCT		PASS	0.338	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		17	30	17	30	---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54392977	54392977	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:54392977T>C	ENST00000263431.3	+	4	653	c.371T>C	c.(370-372)cTt>cCt	p.L124P	PRKCG_ENST00000536044.1_Missense_Mutation_p.L124P|PRKCG_ENST00000540413.1_Missense_Mutation_p.L124P|PRKCG_ENST00000542049.1_Intron	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	124					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.L124P(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CTCTACGGGCTTGTGCACCAG	0.632																																						uc002qcq.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(370-372)CTT>CCT		protein kinase C, gamma							54.0	46.0	48.0					19																	54392977		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54392977T>C	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.371T>C	19.37:g.54392977T>C	ENSP00000263431:p.Leu124Pro					PRKCG_uc010eqz.1_Missense_Mutation_p.L124P|PRKCG_uc010yef.1_Missense_Mutation_p.L124P|PRKCG_uc010yeg.1_Missense_Mutation_p.L124P|PRKCG_uc010yeh.1_Intron	p.L124P	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	4	653	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		124			Phorbol-ester/DAG-type 2.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.371T>C	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.531729	0.85706	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000419486	D;D;D	0.85702	-2.02;-2.02;-2.02	4.75	4.75	0.60458	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	.	.	.	.	D	0.93311	0.7868	M	0.91510	3.215	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;0.987;0.974	D;D;D;D	0.91635	0.934;0.999;0.938;0.938	D	0.94446	0.7663	9	0.87932	D	0	.	12.5591	0.56271	0.0:0.0:0.0:1.0	.	124;124;124;124	F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;KPCG_HUMAN	P	124;124;124;147	ENSP00000440541:L124P;ENSP00000443493:L124P;ENSP00000263431:L124P	ENSP00000263431:L124P	L	+	2	0	PRKCG	59084789	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.867000	0.69597	1.919000	0.55581	0.524000	0.50904	CTT		PASS	0.632	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		16	19	16	19	---	---	---	---
TFPT	29844	broad.mit.edu	37	19	54613499	54613499	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:54613499G>T	ENST00000391759.1	-	3	693	c.288C>A	c.(286-288)aaC>aaA	p.N96K	TFPT_ENST00000391757.1_Missense_Mutation_p.N96K|TFPT_ENST00000391758.1_Missense_Mutation_p.N87K	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	96					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N96K(1)		large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					GGACCCGCTCGTTCACCTATG	0.577			T	TCF3	pre-B ALL																																	uc010yej.1				Dom	yes		19	19q13	29844	T	TCF3 (E2A) fusion partner (in childhood Leukemia)			L	TCF3		pre-B ALL		1	Substitution - Missense(1)		lung(1)		0						c.(286-288)AAC>AAA		TCF3 (E2A) fusion partner							82.0	70.0	74.0					19																	54613499		2203	4300	6503	SO:0001583	missense	29844				apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	g.chr19:54613499G>T	AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"""INO80 complex subunits"""	13630	protein-coding gene	gene with protein product	"""amida, partner of the E2A"", ""INO80 complex subunit F"""	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.288C>A	19.37:g.54613499G>T	ENSP00000375639:p.Asn96Lys					TFPT_uc010erd.2_Missense_Mutation_p.N96K	p.N96K	NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN			3	694	-	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		96						Missense_Mutation	SNP	ENST00000391759.1	37	c.288C>A	CCDS12878.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299214	0.60195	.	.	ENSG00000105619	ENST00000391759;ENST00000391758;ENST00000391757	.	.	.	4.54	-4.43	0.03568	.	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	M	0.68317	2.08	0.41683	D	0.989308	D	0.55800	0.973	P	0.53988	0.739	T	0.67059	-0.5766	9	0.87932	D	0	-11.709	14.3519	0.66708	0.8906:0.0:0.1094:0.0	.	96	P0C1Z6	TFPT_HUMAN	K	96;87;96	.	ENSP00000375637:N96K	N	-	3	2	TFPT	59305311	0.032000	0.19561	0.926000	0.36857	0.687000	0.40016	-1.352000	0.02619	-1.476000	0.01874	-0.367000	0.07326	AAC		PASS	0.577	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	NM_013342		21	48	21	48	---	---	---	---
KIR3DX1	90011	broad.mit.edu	37	19	55044296	55044296	+	Splice_Site	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:55044296G>A	ENST00000335056.3	+	2	107	c.69G>A	c.(67-69)gcG>gcA	p.A23A				Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	23	Ig-like C2-type 1.					extracellular region (GO:0005576)		p.A23A(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GCCCACATGCGGGTGAGTCCT	0.473																																					Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)	uc010yfa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1								Homo sapiens mRNA for FLJ00060 protein, partial cds.							95.0	95.0	95.0					19																	55044296		1940	4150	6090	SO:0001630	splice_region_variant	90011							g.chr19:55044296G>A	BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.70+1G>A	19.37:g.55044296G>A						KIR3DX1_uc010yfb.1_RNA|KIR3DX1_uc010yfc.1_RNA|KIR3DX1_uc010yfd.1_RNA		NR_026716					GBM - Glioblastoma multiforme(193;0.099)	2		+								B7WNL0|Q8N0S4	RNA	SNP	ENST00000335056.3	37	c.175G>A																																																																																					PASS	0.473	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000140800.2	NR_026716	Silent	51	77	51	77	---	---	---	---
NCR1	9437	broad.mit.edu	37	19	55417567	55417567	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:55417567C>A	ENST00000291890.4	+	1	60	c.22C>A	c.(22-24)Ctg>Atg	p.L8M	NCR1_ENST00000350790.5_Missense_Mutation_p.L8M|NCR1_ENST00000357397.5_Missense_Mutation_p.L8M|NCR1_ENST00000338835.5_Missense_Mutation_p.L8M|NCR1_ENST00000594765.1_Missense_Mutation_p.L8M|NCR1_ENST00000447255.1_Missense_Mutation_p.L8M|NCR1_ENST00000598576.1_Missense_Mutation_p.L8M	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	8					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)	p.L8M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		ACTCCCTGCCCTGCTCTGCGT	0.612																																						uc002qib.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(22-24)CTG>ATG		natural cytotoxicity triggering receptor 1							127.0	101.0	109.0					19																	55417567		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55417567C>A	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.22C>A	19.37:g.55417567C>A	ENSP00000291890:p.Leu8Met					NCR1_uc002qic.2_Missense_Mutation_p.L8M|NCR1_uc002qie.2_Missense_Mutation_p.L8M|NCR1_uc002qid.2_Missense_Mutation_p.L8M|NCR1_uc002qif.2_Missense_Mutation_p.L8M|NCR1_uc010esj.2_Missense_Mutation_p.L8M	p.L8M	NM_004829	NP_004820	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	1	60	+			8					B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.22C>A	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	C	9.356	1.066822	0.20067	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	T;T;T;T;T	0.00669	5.9;5.95;6.07;6.1;6.31	3.32	2.28	0.28536	.	0.201220	0.25478	N	0.030389	T	0.02929	0.0087	M	0.76170	2.325	0.23946	N	0.996389	P;D;D;D;D;P	0.89917	0.931;1.0;0.99;1.0;0.959;0.931	P;D;P;D;P;B	0.83275	0.522;0.996;0.871;0.996;0.637;0.433	T	0.29058	-1.0024	10	0.46703	T	0.11	.	6.7182	0.23314	0.0:0.8712:0.0:0.1288	.	8;8;8;8;8;8	O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;.;NCTR1_HUMAN	M	8	ENSP00000291890:L8M;ENSP00000404434:L8M;ENSP00000339515:L8M;ENSP00000344358:L8M;ENSP00000349972:L8M	ENSP00000291890:L8M	L	+	1	2	NCR1	60109379	0.000000	0.05858	0.759000	0.31340	0.152000	0.21847	-0.273000	0.08548	0.984000	0.38629	0.655000	0.94253	CTG		PASS	0.612	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			34	93	34	93	---	---	---	---
NLRP9	338321	broad.mit.edu	37	19	56243388	56243389	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:56243388_56243389TG>CT	ENST00000332836.2	-	2	1835_1836	c.1808_1809CA>AG	c.(1807-1809)cCA>cAG	p.P603Q		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	603						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.P603Q(2)|p.P603P(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTGAGTCATCTGGAAAGATATT	0.426																																						uc002qly.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	skin(4)|ovary(2)|breast(1)	7						c.(1807-1809)CCA>CCG|c.(1807-1809)CCA>CAA		NLR family, pyrin domain containing 9																																				SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56243388T>C|g.chr19:56243389G>T	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1808_1809delinsCT	19.37:g.56243388_56243389delinsCT	ENSP00000331857:p.Pro603Gln						p.P603P|p.P603Q	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1837|1836	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	603					B2RN12|Q86W27	Silent|Missense_Mutation	SNP	ENST00000332836.2	37	c.1809A>G|c.1808C>A	CCDS12934.1																																																																																				PASS	0.426	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		20	22	20	22	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56487502	56487502	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:56487502G>A	ENST00000291971.3	+	8	2780	c.2709G>A	c.(2707-2709)ctG>ctA	p.L903L	NLRP8_ENST00000590542.1_Silent_p.L884L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	903					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.L903L(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTTGCAGACTGAGAAAGTGTG	0.358																																						uc002qmh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2707-2709)CTG>CTA		NLR family, pyrin domain containing 8							90.0	84.0	86.0					19																	56487502		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56487502G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2709G>A	19.37:g.56487502G>A						NLRP8_uc010etg.2_Silent_p.L884L	p.L903L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	8	2780	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	903					Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.2709G>A	CCDS12937.1																																																																																				PASS	0.358	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		27	49	27	49	---	---	---	---
ZNF264	9422	broad.mit.edu	37	19	57723037	57723037	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:57723037G>T	ENST00000263095.6	+	4	986	c.572G>T	c.(571-573)gGt>gTt	p.G191V	ZNF264_ENST00000536056.1_Missense_Mutation_p.G191V	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	191					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.G191V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TGTGAGTCAGGTAAAGATCCC	0.418																																						uc002qob.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(571-573)GGT>GTT		zinc finger protein 264							94.0	86.0	89.0					19																	57723037		2203	4300	6503	SO:0001583	missense	9422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57723037G>T	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.572G>T	19.37:g.57723037G>T	ENSP00000263095:p.Gly191Val						p.G191V	NM_003417	NP_003408	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	4	985	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	191					A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	c.572G>T	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664928	0.29604	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.05649	3.41;3.41	1.79	0.653	0.17828	.	.	.	.	.	T	0.03053	0.0090	N	0.04373	-0.215	0.18873	N	0.999988	B	0.33694	0.421	B	0.33042	0.157	T	0.48317	-0.9046	9	0.30078	T	0.28	.	9.0495	0.36367	0.0:0.4181:0.5819:0.0	.	191	O43296	ZN264_HUMAN	V	191	ENSP00000263095:G191V;ENSP00000440376:G191V	ENSP00000263095:G191V	G	+	2	0	ZNF264	62414849	0.059000	0.20769	0.152000	0.22495	0.391000	0.30476	-0.908000	0.04063	0.298000	0.22638	0.555000	0.69702	GGT		PASS	0.418	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			13	44	13	44	---	---	---	---
ZSCAN4	201516	broad.mit.edu	37	19	58189754	58189754	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:58189754C>G	ENST00000318203.5	+	5	1480	c.783C>G	c.(781-783)atC>atG	p.I261M		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	261					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I261M(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAAATGGAATCACTTTCCAAG	0.507																																						uc002qpu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(781-783)ATC>ATG		zinc finger and SCAN domain containing 4							102.0	94.0	97.0					19																	58189754		2203	4300	6503	SO:0001583	missense	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58189754C>G	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.783C>G	19.37:g.58189754C>G	ENSP00000321963:p.Ile261Met						p.I261M	NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1480	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	261					Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.783C>G	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	C	6.758	0.508644	0.12883	.	.	ENSG00000180532	ENST00000318203	T	0.07021	3.23	3.57	-5.74	0.02391	.	1.688400	0.03187	N	0.172872	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B	0.32040	0.353	B	0.31016	0.123	T	0.23476	-1.0187	10	0.45353	T	0.12	-1.4859	0.8467	0.01163	0.2393:0.3327:0.1185:0.3095	.	261	Q8NAM6	ZSCA4_HUMAN	M	261	ENSP00000321963:I261M	ENSP00000321963:I261M	I	+	3	3	ZSCAN4	62881566	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.087000	0.01360	-1.538000	0.01734	-1.094000	0.02160	ATC		PASS	0.507	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		24	66	24	66	---	---	---	---
ZNF329	79673	broad.mit.edu	37	19	58639432	58639432	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:58639432T>C	ENST00000598312.1	-	4	1672	c.1439A>G	c.(1438-1440)gAg>gGg	p.E480G	ZNF329_ENST00000358067.4_Missense_Mutation_p.E480G	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	480					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.E480G(1)		NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		ATATGGGGTCTCCTTAGTGTG	0.522																																						uc002qrn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1438-1440)GAG>GGG		zinc finger protein 329							113.0	108.0	110.0					19																	58639432		2203	4300	6503	SO:0001583	missense	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639432T>C	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1439A>G	19.37:g.58639432T>C	ENSP00000470008:p.Glu480Gly					ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	p.E480G	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1676	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	480					B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	c.1439A>G	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.625335	0.66901	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.27557	1.66;1.66	4.31	4.31	0.51392	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42548	D	0.000692	T	0.57548	0.2061	M	0.84156	2.68	0.51767	D	0.999936	D	0.89917	1.0	D	0.97110	1.0	T	0.64744	-0.6335	10	0.87932	D	0	-18.1445	13.3971	0.60861	0.0:0.0:0.0:1.0	.	480	Q86UD4	ZN329_HUMAN	G	480	ENSP00000350773:E480G;ENSP00000439527:E480G	ENSP00000350773:E480G	E	-	2	0	ZNF329	63331244	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	4.688000	0.61715	2.173000	0.68751	0.533000	0.62120	GAG		PASS	0.522	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		51	84	51	84	---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3670649	3670649	+	Silent	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr20:3670649G>C	ENST00000344754.4	-	18	4853	c.4854C>G	c.(4852-4854)gtC>gtG	p.V1618V	SIGLEC1_ENST00000202578.4_Silent_p.V1618V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1618	Ig-like C2-type 16.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.V1618V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CAGAGCCCAGGACATTTGAGG	0.607																																						uc002wja.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(4852-4854)GTC>GTG		sialoadhesin precursor							47.0	40.0	42.0					20																	3670649		2202	4300	6502	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3670649G>C	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.4854C>G	20.37:g.3670649G>C						SIGLEC1_uc002wjb.1_Silent_p.V257V|SIGLEC1_uc002wiz.3_Silent_p.V1618V	p.V1618V	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			18	4854	-			1618			Ig-like C2-type 16.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	c.4854C>G	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	2.085	-0.409809	0.04799	.	.	ENSG00000088827	ENST00000419548	.	.	.	5.55	-2.28	0.06826	.	.	.	.	.	T	0.39118	0.1066	.	.	.	0.37257	D	0.90681	.	.	.	.	.	.	T	0.37865	-0.9687	4	.	.	.	.	1.8044	0.03078	0.2311:0.1111:0.432:0.2257	.	.	.	.	A	432	.	.	P	-	1	0	SIGLEC1	3618649	0.002000	0.14202	0.113000	0.21522	0.403000	0.30841	-0.350000	0.07721	-0.206000	0.10203	-1.134000	0.01955	CCT		PASS	0.607	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		6	18	6	18	---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8737759	8737759	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr20:8737759G>T	ENST00000338037.6	+	24	2617	c.2590G>T	c.(2590-2592)Gtg>Ttg	p.V864L	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.V864L|PLCB1_ENST00000378637.2_Missense_Mutation_p.V864L	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	864					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.V864L(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGAAAATGGGGTGAATCACAC	0.498																																						uc002wnb.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(2590-2592)GTG>TTG		phosphoinositide-specific phospholipase C beta 1							77.0	79.0	79.0					20																	8737759		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8737759G>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2590G>T	20.37:g.8737759G>T	ENSP00000338185:p.Val864Leu					PLCB1_uc010zrb.1_Missense_Mutation_p.V763L|PLCB1_uc002wna.2_Missense_Mutation_p.V864L|PLCB1_uc002wnc.1_Missense_Mutation_p.V763L|PLCB1_uc002wnd.1_Missense_Mutation_p.V441L	p.V864L	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			24	2593	+			864					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.2590G>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	6.412	0.444208	0.12164	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.17054	2.3;2.31;2.3	5.53	4.58	0.56647	.	0.216015	0.40554	N	0.001071	T	0.04003	0.0112	N	0.00308	-1.67	0.37250	D	0.906507	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.28776	-1.0033	10	0.15066	T	0.55	.	9.8032	0.40777	0.0707:0.0:0.7912:0.1381	.	864;864	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	L	864;864;864;784;784	ENSP00000367908:V864L;ENSP00000338185:V864L;ENSP00000367904:V864L	ENSP00000338185:V864L	V	+	1	0	PLCB1	8685759	0.958000	0.32768	0.993000	0.49108	0.924000	0.55760	0.789000	0.26886	1.464000	0.47987	0.650000	0.86243	GTG		PASS	0.498	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			27	68	27	68	---	---	---	---
DSTN	11034	broad.mit.edu	37	20	17581618	17581618	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr20:17581618G>A	ENST00000246069.7	+	2	585	c.239G>A	c.(238-240)tGt>tAt	p.C80Y	DSTN_ENST00000474024.1_Missense_Mutation_p.C63Y	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	80	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)		p.C80Y(1)		endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						GAAAAAGATTGTCGCTATGCT	0.363																																						uc002wpr.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(238-240)TGT>TAT		destrin isoform a							120.0	111.0	114.0					20																	17581618		2203	4300	6503	SO:0001583	missense	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17581618G>A	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.239G>A	20.37:g.17581618G>A	ENSP00000246069:p.Cys80Tyr					DSTN_uc002wpq.2_Missense_Mutation_p.C63Y|DSTN_uc010gck.2_Missense_Mutation_p.C63Y	p.C80Y	NM_006870	NP_006861	P60981	DEST_HUMAN			2	494	+			80			ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Missense_Mutation	SNP	ENST00000246069.7	37	c.239G>A	CCDS13127.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375391	0.82682	.	.	ENSG00000125868	ENST00000246069;ENST00000543261	T;T	0.33654	1.4;1.4	5.65	4.67	0.58626	Actin-binding, cofilin/tropomyosin type (3);	0.000000	0.85682	D	0.000000	T	0.65101	0.2659	H	0.94385	3.53	0.58432	D	0.999999	D	0.53312	0.959	P	0.56398	0.797	T	0.75587	-0.3266	10	0.66056	D	0.02	-11.9665	15.1188	0.72426	0.0:0.0:0.8584:0.1416	.	80	P60981	DEST_HUMAN	Y	80;63	ENSP00000246069:C80Y;ENSP00000444808:C63Y	ENSP00000246069:C80Y	C	+	2	0	DSTN	17529618	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.771000	0.98977	2.681000	0.91329	0.563000	0.77884	TGT		PASS	0.363	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		64	89	64	89	---	---	---	---
SEC23B	10483	broad.mit.edu	37	20	18522958	18522958	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr20:18522958C>A	ENST00000336714.3	+	13	1855	c.1423C>A	c.(1423-1425)Caa>Aaa	p.Q475K	SEC23B_ENST00000262544.2_Missense_Mutation_p.Q475K|SEC23B_ENST00000377475.3_Missense_Mutation_p.Q475K|SEC23B_ENST00000377465.1_Missense_Mutation_p.Q475K	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	475					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.Q475K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CCCGATCCCCCAAGGAGGCAG	0.547																																						uc002wqz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1423-1425)CAA>AAA		Sec23 homolog B							249.0	217.0	228.0					20																	18522958		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18522958C>A	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1423C>A	20.37:g.18522958C>A	ENSP00000338844:p.Gln475Lys					SEC23B_uc002wra.1_Missense_Mutation_p.Q475K|SEC23B_uc002wrb.1_Missense_Mutation_p.Q475K|SEC23B_uc010zsb.1_Missense_Mutation_p.Q457K|SEC23B_uc002wrc.1_Missense_Mutation_p.Q475K	p.Q475K	NM_006363	NP_006354	Q15437	SC23B_HUMAN			13	1866	+			475					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.1423C>A	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068399	0.76301	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	4.93	4.93	0.64822	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	T	0.77123	0.4084	M	0.81942	2.565	0.80722	D	1	B;B	0.31790	0.34;0.051	B;B	0.35607	0.206;0.102	T	0.74697	-0.3578	10	0.22109	T	0.4	-14.1109	17.3272	0.87252	0.0:1.0:0.0:0.0	.	457;475	B4DJW8;Q15437	.;SC23B_HUMAN	K	475	ENSP00000338844:Q475K;ENSP00000262544:Q475K;ENSP00000366695:Q475K;ENSP00000366685:Q475K	ENSP00000262544:Q475K	Q	+	1	0	SEC23B	18470958	1.000000	0.71417	0.991000	0.47740	0.886000	0.51366	7.651000	0.83577	2.567000	0.86603	0.655000	0.94253	CAA		PASS	0.547	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			81	184	81	184	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20270957	20270957	+	Silent	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr20:20270957T>C	ENST00000245957.5	+	24	3214	c.3138T>C	c.(3136-3138)ccT>ccC	p.P1046P	C20orf26_ENST00000377309.2_Missense_Mutation_p.L293P	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1046								p.P1046P(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GCATTCTTCCTGGGTCTTACC	0.388																																						uc002wru.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(3136-3138)CCT>CCC		hypothetical protein LOC26074							81.0	86.0	84.0					20																	20270957		2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20270957T>C																												ENST00000245957.5:c.3138T>C	20.37:g.20270957T>C						C20orf26_uc002wrw.2_RNA	p.P1046P	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	24	3214	+			1046					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.3138T>C	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.428220	0.62844	.	.	ENSG00000089101	ENST00000377309	T	0.36157	1.27	5.5	-0.79	0.10932	.	.	.	.	.	T	0.33702	0.0872	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.09037	-1.0693	5	.	.	.	.	7.1424	0.25564	0.0:0.3193:0.1121:0.5686	.	.	.	.	P	293	ENSP00000366524:L293P	.	L	+	2	0	C20orf26	20218957	0.311000	0.24536	0.889000	0.34880	0.982000	0.71751	-0.708000	0.05035	-0.447000	0.07138	-0.421000	0.06004	CTG		PASS	0.388	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			54	85	54	85	---	---	---	---
CST9L	128821	broad.mit.edu	37	20	23545589	23545589	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr20:23545589T>A	ENST00000376979.3	-	3	738	c.440A>T	c.(439-441)cAc>cTc	p.H147L		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	147						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.H147L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TTTCACTCAGTGGAATCCCTC	0.532																																						uc002wtk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)CAC>CTC		cystatin 9-like precursor							139.0	119.0	126.0					20																	23545589		2203	4300	6503	SO:0001583	missense	128821					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23545589T>A		CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"""cystatin 9 (mouse)-like"""			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.440A>T	20.37:g.23545589T>A	ENSP00000366178:p.His147Leu						p.H147L	NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN			3	739	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		147					B2R5A1	Missense_Mutation	SNP	ENST00000376979.3	37	c.440A>T	CCDS13157.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.977887	0.34942	.	.	ENSG00000101435	ENST00000376979	T	0.13538	2.58	1.74	-3.49	0.04724	.	1.458320	0.04638	N	0.404930	T	0.08447	0.0210	N	0.25647	0.755	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.32561	-0.9902	10	0.87932	D	0	.	0.5943	0.00733	0.1756:0.1756:0.3172:0.3316	.	147	Q9H4G1	CST9L_HUMAN	L	147	ENSP00000366178:H147L	ENSP00000366178:H147L	H	-	2	0	CST9L	23493589	0.000000	0.05858	0.000000	0.03702	0.267000	0.26476	-1.820000	0.01714	-1.628000	0.01548	0.254000	0.18369	CAC		PASS	0.532	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	NM_080610		46	91	46	91	---	---	---	---
NINL	22981	broad.mit.edu	37	20	25439071	25439071	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr20:25439071C>A	ENST00000278886.6	-	22	3864	c.3791G>T	c.(3790-3792)cGc>cTc	p.R1264L	NINL_ENST00000422516.1_Missense_Mutation_p.R915L|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1264					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.R1264L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTGAGCAGGCGATGCAGCTC	0.667																																						uc002wux.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3790-3792)CGC>CTC		ninein-like							46.0	39.0	41.0					20																	25439071		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25439071C>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3791G>T	20.37:g.25439071C>A	ENSP00000278886:p.Arg1264Leu					NINL_uc010gdn.1_Missense_Mutation_p.R915L|NINL_uc002wuw.1_Missense_Mutation_p.R55L	p.R1264L	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			22	3865	-			1264			Potential.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.3791G>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	8.099	0.776287	0.16051	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.35236	1.32;1.32	2.78	-5.23	0.02798	.	2.275330	0.01873	N	0.037357	T	0.28101	0.0693	N	0.22421	0.69	0.09310	N	1	B;B;B	0.33940	0.255;0.097;0.433	B;B;B	0.37731	0.062;0.039;0.257	T	0.36138	-0.9760	10	0.54805	T	0.06	-3.8533	9.5935	0.39561	0.0:0.3777:0.0:0.6223	.	915;1264;55	Q9Y2I6-2;Q9Y2I6;Q9HAD5	.;NINL_HUMAN;.	L	1264;915	ENSP00000278886:R1264L;ENSP00000410431:R915L	ENSP00000278886:R1264L	R	-	2	0	NINL	25387071	0.005000	0.15991	0.002000	0.10522	0.028000	0.11728	-1.676000	0.01946	-1.447000	0.01943	-1.484000	0.00983	CGC		PASS	0.667	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		27	45	27	45	---	---	---	---
DEFB115	245929	broad.mit.edu	37	20	29847261	29847261	+	Splice_Site	SNP	A	A	T	rs534397123		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr20:29847261A>T	ENST00000400552.1	+	2	94		c.e2-1			NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.?(1)		kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			TTATTTTGATAGATGGATGGA	0.299																																						uc002wvp.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e2-2		beta-defensin 115 precursor							67.0	61.0	63.0					20																	29847261		1831	4080	5911	SO:0001630	splice_region_variant	245929				defense response to bacterium	extracellular region		g.chr20:29847261A>T	DQ012019	CCDS42859.1	20q11.1	2008-07-17			ENSG00000215547	ENSG00000215547		"""Defensins, beta"""	18096	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037730		Approved	DEFB-15	uc002wvp.1	Q30KQ5	OTTHUMG00000159284	ENST00000400552.1:c.95-1A>T	20.37:g.29847261A>T							p.D32_splice	NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)		2	95	+									Splice_Site	SNP	ENST00000400552.1	37	c.95_splice	CCDS42859.1	.	.	.	.	.	.	.	.	.	.	.	8.398	0.841208	0.16891	.	.	ENSG00000215547	ENST00000400552	.	.	.	2.83	1.74	0.24563	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5807	0.12257	0.8464:0.0:0.1536:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DEFB115	29310922	1.000000	0.71417	0.963000	0.40424	0.028000	0.11728	2.378000	0.44309	0.511000	0.28236	0.329000	0.21502	.		PASS	0.299	DEFB115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354402.1	NM_001037730	Intron	27	38	27	38	---	---	---	---
NOL4L	140688	broad.mit.edu	37	20	31044086	31044086	+	Silent	SNP	G	G	A	rs373232648		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr20:31044086G>A	ENST00000359676.5	-	3	364	c.222C>T	c.(220-222)gcC>gcT	p.A74A	RP5-1184F4.5_ENST00000442179.1_RNA|C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		74						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A74A(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						TGGGGGCCACGGCGCCGTTGC	0.667																																						uc002wxu.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(220-222)GCC>GCT		hypothetical protein LOC140688		G		1,4405	2.1+/-5.4	0,1,2202	41.0	38.0	39.0		222	-9.3	0.2	20		39	0,8598		0,0,4299	no	coding-synonymous	C20orf112	NM_080616.3		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		74/437	31044086	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	140688							g.chr20:31044086G>A																												ENST00000359676.5:c.222C>T	20.37:g.31044086G>A						C20orf112_uc010gec.2_5'UTR	p.A74A	NM_080616	NP_542183	Q96MY1	CT112_HUMAN			3	379	-			74					Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Silent	SNP	ENST00000359676.5	37	c.222C>T	CCDS13202.1																																																																																				PASS	0.667	C20orf112-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078628.2			34	47	34	47	---	---	---	---
DNMT3B	1789	broad.mit.edu	37	20	31375187	31375187	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr20:31375187G>T	ENST00000328111.2	+	6	905	c.584G>T	c.(583-585)aGc>aTc	p.S195I	DNMT3B_ENST00000456297.2_Missense_Mutation_p.S119I|DNMT3B_ENST00000344505.4_Missense_Mutation_p.S195I|DNMT3B_ENST00000353855.2_Missense_Mutation_p.S195I|DNMT3B_ENST00000375623.4_Missense_Mutation_p.S153I|DNMT3B_ENST00000201963.3_Missense_Mutation_p.S207I|DNMT3B_ENST00000443239.3_Missense_Mutation_p.S153I|DNMT3B_ENST00000348286.2_Missense_Mutation_p.S195I	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	195	Interaction with DNMT1 and DNMT3A.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.S207I(1)|p.S195I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCCAGGACAGCCAGCAGGGG	0.632																																						uc002wyc.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)	5						c.(583-585)AGC>ATC		DNA cytosine-5 methyltransferase 3 beta isoform							59.0	57.0	58.0					20																	31375187		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31375187G>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.584G>T	20.37:g.31375187G>T	ENSP00000328547:p.Ser195Ile					DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.S195I|DNMT3B_uc002wye.2_Missense_Mutation_p.S195I|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.S153I|DNMT3B_uc010zua.1_Missense_Mutation_p.S119I|DNMT3B_uc002wyf.2_Missense_Mutation_p.S207I	p.S195I	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN			6	905	+			195			Interaction with DNMT1 and DNMT3A.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.584G>T	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078853	0.36662	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000375623;ENST00000201963	D;D;D;D;D;D;T;D	0.97455	-4.38;-4.39;-4.34;-4.39;-4.34;-4.21;-0.27;-4.39	3.79	2.85	0.33270	.	0.451921	0.27064	N	0.021113	D	0.93006	0.7774	N	0.19112	0.55	0.25586	N	0.986745	B;B;B;B;B;P	0.45634	0.136;0.045;0.253;0.253;0.076;0.863	B;B;B;B;B;P	0.44477	0.05;0.035;0.168;0.111;0.076;0.451	D	0.87894	0.2686	10	0.51188	T	0.08	-16.4258	9.7889	0.40692	0.0983:0.0:0.9017:0.0	.	119;153;207;195;195;195	E9PBF2;E7EN63;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;DNM3B_HUMAN	I	195;281;195;195;153;119;195;153;207	ENSP00000328547:S195I;ENSP00000313397:S195I;ENSP00000337764:S195I;ENSP00000403169:S153I;ENSP00000412305:S119I;ENSP00000345105:S195I;ENSP00000364774:S153I;ENSP00000201963:S207I	ENSP00000201963:S207I	S	+	2	0	DNMT3B	30838848	0.092000	0.21681	0.209000	0.23619	0.053000	0.15095	1.732000	0.38146	1.197000	0.43143	-0.252000	0.11476	AGC		PASS	0.632	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		46	56	46	56	---	---	---	---
SNTA1	6640	broad.mit.edu	37	20	31998117	31998117	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr20:31998117G>C	ENST00000217381.2	-	6	1332	c.1061C>G	c.(1060-1062)tCc>tGc	p.S354C		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	354	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)	p.S354C(1)		breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TGAGCCCTTGGAGGGGCCTGA	0.642																																						uc002wzd.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1060-1062)TCC>TGC		acidic alpha 1 syntrophin							21.0	18.0	19.0					20																	31998117		2202	4300	6502	SO:0001583	missense	6640				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	g.chr20:31998117G>C	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.1061C>G	20.37:g.31998117G>C	ENSP00000217381:p.Ser354Cys					SNTA1_uc010zuf.1_Missense_Mutation_p.S279C	p.S354C	NM_003098	NP_003089	Q13424	SNTA1_HUMAN			6	1333	-			354			PH 2.		A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	ENST00000217381.2	37	c.1061C>G	CCDS13220.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617372	0.66672	.	.	ENSG00000101400	ENST00000217381	T	0.73047	-0.71	4.91	4.91	0.64330	Pleckstrin homology domain (2);	0.147655	0.47455	D	0.000226	T	0.67429	0.2892	L	0.53249	1.67	0.38560	D	0.949678	P;P	0.52170	0.951;0.726	B;B	0.40901	0.343;0.219	T	0.73968	-0.3815	10	0.45353	T	0.12	-13.6904	17.699	0.88289	0.0:0.0:1.0:0.0	.	279;354	B4DX40;Q13424	.;SNTA1_HUMAN	C	354	ENSP00000217381:S354C	ENSP00000217381:S354C	S	-	2	0	SNTA1	31461778	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.744000	0.47450	2.274000	0.75844	0.563000	0.77884	TCC		PASS	0.642	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098		7	5	7	5	---	---	---	---
DLGAP4	22839	broad.mit.edu	37	20	35060493	35060493	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr20:35060493C>T	ENST00000373907.2	+	2	572	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	DLGAP4_ENST00000373913.3_Missense_Mutation_p.P125S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P125S|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P125S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	125					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)		p.P125S(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCTCCAATTTCCCCGTGGCGA	0.632																																						uc002xff.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	skin(2)|ovary(1)	3						c.(373-375)CCC>TCC		disks large-associated protein 4 isoform a							68.0	70.0	69.0					20																	35060493		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060493C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.373C>T	20.37:g.35060493C>T	ENSP00000363014:p.Pro125Ser					DLGAP4_uc010zvp.1_Missense_Mutation_p.P125S	p.P125S	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			3	808	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	125					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.373C>T		.	.	.	.	.	.	.	.	.	.	C	14.97	2.694353	0.48202	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	5.53	5.53	0.82687	.	0.225950	0.47455	D	0.000233	T	0.17959	0.0431	L	0.38175	1.15	0.37497	D	0.916607	B	0.33883	0.43	B	0.33254	0.16	T	0.05869	-1.0859	10	0.62326	D	0.03	.	18.4578	0.90727	0.0:1.0:0.0:0.0	.	125	Q9Y2H0-1	.	S	125	ENSP00000363023:P125S;ENSP00000384954:P125S;ENSP00000363014:P125S;ENSP00000341633:P125S	ENSP00000341633:P125S	P	+	1	0	DLGAP4	34493907	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.818000	0.86416	2.590000	0.87494	0.561000	0.74099	CCC		PASS	0.632	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		48	90	48	90	---	---	---	---
FAM83D	81610	broad.mit.edu	37	20	37580850	37580850	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr20:37580850C>G	ENST00000217429.4	+	4	1576	c.1535C>G	c.(1534-1536)tCt>tGt	p.S512C		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	482					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S512C(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TCCTCTGTGTCTTCCCAAGGC	0.507																																						uc002xjg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1534-1536)TCT>TGT		hypothetical protein LOC81610							80.0	79.0	79.0					20																	37580850		1951	4144	6095	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580850C>G	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1535C>G	20.37:g.37580850C>G	ENSP00000217429:p.Ser512Cys						p.S512C	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN			4	1576	+		Myeloproliferative disorder(115;0.00878)	482			Ser-rich.		B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.1535C>G	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075850	0.76415	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.24350	1.86	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000002	T	0.54615	0.1869	M	0.74881	2.28	0.50313	D	0.999869	D	0.89917	1.0	D	0.85130	0.997	T	0.55192	-0.8179	10	0.72032	D	0.01	.	19.6122	0.95610	0.0:1.0:0.0:0.0	.	482	Q9H4H8	FA83D_HUMAN	C	512;466	ENSP00000217429:S512C	ENSP00000217429:S512C	S	+	2	0	FAM83D	37014264	0.994000	0.37717	1.000000	0.80357	0.939000	0.58152	3.850000	0.55918	2.793000	0.96121	0.655000	0.94253	TCT		PASS	0.507	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			58	54	58	54	---	---	---	---
MYBL2	4605	broad.mit.edu	37	20	42331428	42331428	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr20:42331428G>A	ENST00000217026.4	+	8	1377	c.1250G>A	c.(1249-1251)cGt>cAt	p.R417H	MYBL2_ENST00000396863.4_Missense_Mutation_p.R393H	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	417					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R417H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGGAAGAGGCGTGTGGCTCTG	0.617																																						uc002xlb.1																			1	Substitution - Missense(1)	p.R417C(1)	lung(1)	lung(3)|kidney(2)	5						c.(1249-1251)CGT>CAT		MYB-related protein B							112.0	88.0	96.0					20																	42331428		2203	4300	6503	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42331428G>A		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1250G>A	20.37:g.42331428G>A	ENSP00000217026:p.Arg417His					MYBL2_uc010zwj.1_Missense_Mutation_p.R393H|MYBL2_uc002xla.1_Missense_Mutation_p.R417H	p.R417H	NM_002466	NP_002457	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		8	1465	+		Myeloproliferative disorder(115;0.00452)	417			Nuclear localization signal.		B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.1250G>A	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048715	0.75846	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.16743	2.32;2.32	4.99	4.03	0.46877	.	0.248943	0.35179	N	0.003398	T	0.16342	0.0393	N	0.14661	0.345	0.47094	D	0.99931	D;D	0.71674	0.998;0.998	P;P	0.59056	0.851;0.791	T	0.01528	-1.1332	10	0.40728	T	0.16	-10.8439	6.004	0.19537	0.2571:0.0:0.7429:0.0	.	393;417	F8W6N6;P10244	.;MYBB_HUMAN	H	393;417	ENSP00000380072:R393H;ENSP00000217026:R417H	ENSP00000217026:R417H	R	+	2	0	MYBL2	41764842	1.000000	0.71417	0.991000	0.47740	0.768000	0.43524	5.276000	0.65580	2.488000	0.83962	0.462000	0.41574	CGT		PASS	0.617	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		19	72	19	72	---	---	---	---
TOX2	84969	broad.mit.edu	37	20	42683132	42683132	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr20:42683132C>T	ENST00000358131.5	+	5	1080	c.872C>T	c.(871-873)tCc>tTc	p.S291F	TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000423191.2_Missense_Mutation_p.S240F|TOX2_ENST00000341197.4_Missense_Mutation_p.S282F|TOX2_ENST00000372999.1_Missense_Mutation_p.S240F	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	291					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S291F(1)|p.S240F(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ATCGTGGCCTCCATGTGGGAC	0.582																																						uc002xlf.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(871-873)TCC>TTC		TOX high mobility group box family member 2							63.0	56.0	58.0					20																	42683132		2203	4300	6503	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42683132C>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.872C>T	20.37:g.42683132C>T	ENSP00000350849:p.Ser291Phe					TOX2_uc010ggo.2_Missense_Mutation_p.S282F|TOX2_uc002xle.3_Missense_Mutation_p.S240F|TOX2_uc010ggp.2_Missense_Mutation_p.S240F|TOX2_uc002xlg.2_Missense_Mutation_p.S240F|TOX2_uc010zwk.1_Missense_Mutation_p.S160F	p.S291F	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		5	889	+		Myeloproliferative disorder(115;0.00452)	291			HMG box.		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.872C>T	CCDS42875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.975898|4.975898	0.92982|0.92982	.|.	.|.	ENSG00000124191|ENSG00000124191	ENST00000372992;ENST00000413823|ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	.|T;T;T;D;T	.|0.94000	.|0.89;0.89;0.89;-3.33;0.89	5.44|5.44	5.44|5.44	0.79542|0.79542	.|High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96694|0.96694	0.8921|0.8921	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.76494	.|0.999;0.999;0.997;0.999;0.999	.|D;D;D;D;D	.|0.87578	.|0.998;0.996;0.996;0.996;0.998	D|D	0.97095|0.97095	0.9793|0.9793	6|10	0.87932|0.87932	D|D	0|0	.|.	18.2447|18.2447	0.89981|0.89981	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|160;282;240;291;240	.|B4DQV8;G3XAC7;A8K1J1;Q96NM4;E1P5X0	.|.;.;.;TOX2_HUMAN;.	S|F	48|282;240;240;291;160	.|ENSP00000344724:S282F;ENSP00000390278:S240F;ENSP00000362090:S240F;ENSP00000350849:S291F;ENSP00000396777:S160F	ENSP00000362083:P48S|ENSP00000344724:S282F	P|S	+|+	1|2	0|0	TOX2|TOX2	42116546|42116546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.818000|7.818000	0.86416|0.86416	2.556000|2.556000	0.86216|0.86216	0.650000|0.650000	0.86243|0.86243	CCA|TCC		PASS	0.582	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			6	23	6	23	---	---	---	---
SEMG1	6406	broad.mit.edu	37	20	43836129	43836129	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr20:43836129C>T	ENST00000372781.3	+	2	248	c.191C>T	c.(190-192)tCt>tTt	p.S64F	SEMG1_ENST00000244069.6_Missense_Mutation_p.S64F	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	64					insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.S64F(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGCAGTTTTTCTATTCAATAC	0.393																																						uc002xni.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	skin(2)	2						c.(190-192)TCT>TTT		semenogelin I preproprotein							119.0	121.0	120.0					20																	43836129		2203	4300	6503	SO:0001583	missense	6406				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836129C>T		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.191C>T	20.37:g.43836129C>T	ENSP00000361867:p.Ser64Phe					SEMG1_uc002xnj.2_Missense_Mutation_p.S64F|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.S64F	p.S64F	NM_003007	NP_002998	P04279	SEMG1_HUMAN			2	248	+		Myeloproliferative disorder(115;0.0122)	64					Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.191C>T	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	C	1.368	-0.586802	0.03827	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.13089	2.62;2.62	1.86	-3.73	0.04398	.	.	.	.	.	T	0.13114	0.0318	L	0.54323	1.7	0.09310	N	1	D;B;D	0.58268	0.972;0.076;0.982	P;B;P	0.53266	0.52;0.015;0.722	T	0.09662	-1.0664	9	0.09084	T	0.74	.	0.1939	0.00137	0.3079:0.2717:0.1564:0.264	.	64;64;64	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	F	64	ENSP00000244069:S64F;ENSP00000361867:S64F	ENSP00000244069:S64F	S	+	2	0	SEMG1	43269543	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.656000	0.01980	-2.235000	0.00714	-0.488000	0.04728	TCT		PASS	0.393	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		56	83	56	83	---	---	---	---
EEF1A2	1917	broad.mit.edu	37	20	62121863	62121863	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr20:62121863G>T	ENST00000298049.7	-	5	1068	c.998C>A	c.(997-999)cCg>cAg	p.P333Q	EEF1A2_ENST00000217182.3_Missense_Mutation_p.P333Q			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	333					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)	p.P333Q(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CTCCTGCGGCGGGTCAGACTT	0.667																																						uc002yfd.1																			2	Substitution - Missense(2)		lung(2)		0						c.(997-999)CCG>CAG		eukaryotic translation elongation factor 1 alpha							46.0	48.0	47.0					20																	62121863		2198	4289	6487	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62121863G>T	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.998C>A	20.37:g.62121863G>T	ENSP00000298049:p.Pro333Gln					EEF1A2_uc002yfe.1_Missense_Mutation_p.P333Q|EEF1A2_uc010gkg.1_Missense_Mutation_p.P333Q	p.P333Q	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		5	1099	-	all_cancers(38;9.45e-12)		333					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.998C>A	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.009219	0.75046	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.50548	0.74;0.74	3.82	3.82	0.43975	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.277113	0.34777	N	0.003687	T	0.82181	0.4981	H	0.99391	4.545	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.982;1.0	D	0.90903	0.4770	10	0.87932	D	0	-9.7274	16.0768	0.80974	0.0:0.0:1.0:0.0	.	309;333	Q59GP5;Q05639	.;EF1A2_HUMAN	Q	333	ENSP00000298049:P333Q;ENSP00000217182:P333Q	ENSP00000217182:P333Q	P	-	2	0	EEF1A2	61592307	1.000000	0.71417	0.828000	0.32881	0.682000	0.39822	9.616000	0.98359	1.847000	0.53656	0.556000	0.70494	CCG		PASS	0.667	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		61	23	61	23	---	---	---	---
SOX18	54345	broad.mit.edu	37	20	62680534	62680534	+	Silent	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr20:62680534G>A	ENST00000340356.7	-	1	460	c.336C>T	c.(334-336)aaC>aaT	p.N112N	ZNF512B_ENST00000450537.1_5'Flank	NM_018419.2	NP_060889.1	P35713	SOX18_HUMAN	SRY (sex determining region Y)-box 18	112					angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|cell maturation (GO:0048469)|embryonic heart tube development (GO:0035050)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|establishment of endothelial barrier (GO:0061028)|hair cycle process (GO:0022405)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|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 transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell proliferation (GO:0072091)|stem cell fate specification (GO:0048866)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)	nuclear chromatin (GO:0000790)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.N112N(1)		lung(3)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGAGCACCGCGTTGTGCAGGT	0.731																																					GBM(27;64 690 17108 39708)	uc002yhs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(334-336)AAC>AAT		SRY-box 18							28.0	30.0	29.0					20																	62680534		2197	4296	6493	SO:0001819	synonymous_variant	54345				angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis	nucleus	transcription regulatory region DNA binding	g.chr20:62680534G>A	AB033888	CCDS13552.1	20q13.33	2008-07-28			ENSG00000203883	ENSG00000203883		"""SRY (sex determining region Y)-boxes"""	11194	protein-coding gene	gene with protein product		601618				10807548	Standard	NM_018419		Approved		uc002yhs.3	P35713	OTTHUMG00000033017	ENST00000340356.7:c.336C>T	20.37:g.62680534G>A							p.N112N	NM_018419	NP_060889	P35713	SOX18_HUMAN			1	446	-	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		112			HMG box.		Q0VGA9|Q9NPH8	Silent	SNP	ENST00000340356.7	37	c.336C>T	CCDS13552.1																																																																																				PASS	0.731	SOX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080265.1			31	49	31	49	---	---	---	---
JAM2	58494	broad.mit.edu	37	21	27078377	27078377	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr21:27078377C>A	ENST00000480456.1	+	7	1334	c.784C>A	c.(784-786)Cag>Aag	p.Q262K	JAM2_ENST00000425221.2_Missense_Mutation_p.Q226K|JAM2_ENST00000312957.5_Missense_Mutation_p.Q262K|JAM2_ENST00000400532.1_Missense_Mutation_p.Q262K	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	262					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.Q262K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						ATGCTATGCTCAGAGGAAAGG	0.403																																						uc002ylp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(784-786)CAG>AAG		junctional adhesion molecule 2 precursor							174.0	174.0	174.0					21																	27078377		1921	4130	6051	SO:0001583	missense	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27078377C>A	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.784C>A	21.37:g.27078377C>A	ENSP00000420419:p.Gln262Lys					JAM2_uc011ace.1_Missense_Mutation_p.Q262K|JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Missense_Mutation_p.Q226K|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Missense_Mutation_p.Q262K|JAM2_uc010gli.1_Missense_Mutation_p.Q262K	p.Q262K	NM_021219	NP_067042	P57087	JAM2_HUMAN			7	1329	+			262			Cytoplasmic (Potential).		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	ENST00000480456.1	37	c.784C>A	CCDS42911.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241280	0.39598	.	.	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957;ENST00000425221	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.02	5.02	0.67125	.	0.178400	0.51477	D	0.000088	D	0.82857	0.5128	L	0.60455	1.87	0.46185	D	0.998916	D;D;D;D;D	0.69078	0.958;0.967;0.958;0.997;0.988	P;P;B;D;P	0.73380	0.471;0.554;0.292;0.98;0.815	T	0.79232	-0.1888	10	0.24483	T	0.36	.	17.2753	0.87113	0.0:1.0:0.0:0.0	.	226;262;262;262;262	B4DGT9;A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;.;JAM2_HUMAN	K	262;262;262;262;262;226	ENSP00000420419:Q262K;ENSP00000383376:Q262K;ENSP00000318416:Q262K;ENSP00000392611:Q226K	ENSP00000318416:Q262K	Q	+	1	0	JAM2	26000248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.059000	0.64306	2.616000	0.88540	0.650000	0.86243	CAG		PASS	0.403	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			37	80	37	80	---	---	---	---
HLCS	3141	broad.mit.edu	37	21	38137351	38137351	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr21:38137351C>A	ENST00000399120.1	-	9	2872	c.1642G>T	c.(1642-1644)Gct>Tct	p.A548S	HLCS_ENST00000336648.4_Missense_Mutation_p.A548S	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	548	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)	p.A548S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TCCACGACAGCCACGGACATC	0.527																																						uc010gnb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|kidney(1)|liver(1)	5						c.(1642-1644)GCT>TCT		holocarboxylase synthetase	Biotin(DB00121)						149.0	121.0	130.0					21																	38137351		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38137351C>A		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1642G>T	21.37:g.38137351C>A	ENSP00000382071:p.Ala548Ser					HLCS_uc002yvs.2_Missense_Mutation_p.A548S	p.A548S	NM_000411	NP_000402	P50747	BPL1_HUMAN			8	2843	-		Myeloproliferative disorder(46;0.0422)	548					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.1642G>T	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897521	0.91962	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.97941	-4.62;-4.62	5.68	5.68	0.88126	Biotin/lipoate A/B protein ligase (1);	0.000000	0.85682	D	0.000000	D	0.98349	0.9452	M	0.62154	1.92	0.80722	D	1	D	0.69078	0.997	D	0.69307	0.963	D	0.98671	1.0688	10	0.49607	T	0.09	.	19.4034	0.94640	0.0:1.0:0.0:0.0	.	548	P50747	BPL1_HUMAN	S	548	ENSP00000382071:A548S;ENSP00000338387:A548S	ENSP00000338387:A548S	A	-	1	0	HLCS	37059221	1.000000	0.71417	0.980000	0.43619	0.638000	0.38207	6.806000	0.75195	2.678000	0.91216	0.561000	0.74099	GCT		PASS	0.527	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			63	79	63	79	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47851652	47851652	+	Silent	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr21:47851652A>T	ENST00000359568.5	+	38	8381	c.8274A>T	c.(8272-8274)tcA>tcT	p.S2758S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2758					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.S2758S(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)					TGGAGCTGTCAGAGGCCTTGC	0.657																																						uc002zji.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(8272-8274)TCA>TCT		pericentrin							22.0	23.0	23.0					21																	47851652		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47851652A>T	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.8274A>T	21.37:g.47851652A>T						PCNT_uc002zjj.2_Silent_p.S2640S	p.S2758S	NM_006031	NP_006022	O95613	PCNT_HUMAN			38	8381	+	Breast(49;0.112)		2758			Potential.		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.8274A>T	CCDS33592.1																																																																																				PASS	0.657	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		15	14	15	14	---	---	---	---
S100B	6285	broad.mit.edu	37	21	48019325	48019325	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr21:48019325A>G	ENST00000291700.4	-	3	426	c.230T>C	c.(229-231)tTt>tCt	p.F77S	S100B_ENST00000367071.4_3'UTR|S100B_ENST00000397648.1_Missense_Mutation_p.F77S	NM_006272.2	NP_006263.1	P04271	S100B_HUMAN	S100 calcium binding protein B	77	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				astrocyte differentiation (GO:0048708)|axonogenesis (GO:0007409)|cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cell shape (GO:0008360)|regulation of neuronal synaptic plasticity (GO:0048168)|response to glucocorticoid (GO:0051384)|response to methylmercury (GO:0051597)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RAGE receptor binding (GO:0050786)|S100 protein binding (GO:0044548)|tau protein binding (GO:0048156)|zinc ion binding (GO:0008270)	p.F77S(1)		endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5	Breast(49;0.247)	Lung NSC(3;0.245)		OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241)	Olopatadine(DB00768)	CATGGCAACAAAGGCCATGAA	0.458																																						uc002zju.1																			1	Substitution - Missense(1)		lung(1)		0						c.(229-231)TTT>TCT		S100 calcium-binding protein, beta							177.0	158.0	164.0					21																	48019325		2203	4300	6503	SO:0001583	missense	6285				axonogenesis|cell proliferation|central nervous system development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular region|nucleus|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|RAGE receptor binding|S100 beta binding|tau protein binding|zinc ion binding	g.chr21:48019325A>G	M59488	CCDS13736.1	21q22.3	2013-01-10	2006-09-11		ENSG00000160307	ENSG00000160307		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10500	protein-coding gene	gene with protein product		176990	"""S100 calcium binding protein, beta (neural)"""			2394738, 1998503	Standard	NM_006272		Approved	S100beta	uc002zju.1	P04271	OTTHUMG00000090715	ENST00000291700.4:c.230T>C	21.37:g.48019325A>G	ENSP00000291700:p.Phe77Ser					S100B_uc002zjv.1_3'UTR	p.F77S	NM_006272	NP_006263	P04271	S100B_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241)	3	341	-	Breast(49;0.247)	Lung NSC(3;0.245)	77			EF-hand 2.		D3DSN6	Missense_Mutation	SNP	ENST00000291700.4	37	c.230T>C	CCDS13736.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.013231	0.93346	.	.	ENSG00000160307	ENST00000291700;ENST00000397648	T;T	0.14266	2.52;2.52	5.3	5.3	0.74995	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	.	.	.	.	T	0.28566	0.0707	.	.	.	0.54753	D	0.999981	D	0.61697	0.99	P	0.55615	0.78	T	0.01432	-1.1356	8	0.52906	T	0.07	.	13.3041	0.60342	1.0:0.0:0.0:0.0	.	77	P04271	S100B_HUMAN	S	77	ENSP00000291700:F77S;ENSP00000380769:F77S	ENSP00000291700:F77S	F	-	2	0	S100B	46843753	1.000000	0.71417	0.916000	0.36221	0.933000	0.57130	8.548000	0.90669	2.130000	0.65690	0.533000	0.62120	TTT		PASS	0.458	S100B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207427.1	NM_006272		61	109	61	109	---	---	---	---
IL17RA	23765	broad.mit.edu	37	22	17589968	17589968	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr22:17589968G>A	ENST00000319363.6	+	13	1992	c.1859G>A	c.(1858-1860)cGg>cAg	p.R620Q		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	620					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)	p.R620Q(1)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		ATCGTGAAGCGGGCGCCCCTG	0.652																																						uc002zly.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1858-1860)CGG>CAG		interleukin 17A receptor precursor							9.0	8.0	8.0					22																	17589968		2176	4278	6454	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17589968G>A	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1859G>A	22.37:g.17589968G>A	ENSP00000320936:p.Arg620Gln					IL17RA_uc010gqt.2_Missense_Mutation_p.R568Q	p.R620Q	NM_014339	NP_055154	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	13	1992	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	620			Cytoplasmic (Potential).		O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.1859G>A	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	1.918	-0.448932	0.04572	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.04970	3.52	4.89	2.54	0.30619	.	0.465526	0.24554	N	0.037527	T	0.00967	0.0032	N	0.00088	-2.19	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.01281	0.0;0.0	T	0.43972	-0.9358	10	0.02654	T	1	-19.9687	4.4244	0.11497	0.6985:0.0:0.1572:0.1443	.	568;620	D3YTB4;Q96F46	.;I17RA_HUMAN	Q	568;620	ENSP00000320936:R620Q	ENSP00000320936:R620Q	R	+	2	0	IL17RA	15969968	0.717000	0.27966	0.011000	0.14972	0.009000	0.06853	2.320000	0.43797	0.268000	0.21939	-0.459000	0.05422	CGG		PASS	0.652	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		4	11	4	11	---	---	---	---
PRAME	23532	broad.mit.edu	37	22	22893284	22893284	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr22:22893284C>T	ENST00000398741.1	-	4	555	c.249G>A	c.(247-249)ctG>ctA	p.L83L	PRAME_ENST00000405655.3_Silent_p.L83L|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000539862.1_Silent_p.L67L|PRAME_ENST00000543184.1_Silent_p.L83L|PRAME_ENST00000424204.2_Silent_p.L67L|PRAME_ENST00000402697.1_Silent_p.L83L|PRAME_ENST00000398743.2_Silent_p.L83L|PRAME_ENST00000406503.1_Silent_p.L83L	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	83					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)	p.L83L(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TCAGCACTCCCAGAGGGAGGC	0.587																																					Melanoma(73;1707 1838 15168 27201)	uc002zwf.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(247-249)CTG>CTA		preferentially expressed antigen in melanoma							108.0	92.0	98.0					22																	22893284		2203	4300	6503	SO:0001819	synonymous_variant	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22893284C>T	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.249G>A	22.37:g.22893284C>T						LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.L67L|PRAME_uc010gtr.2_Silent_p.L83L|PRAME_uc002zwg.2_Silent_p.L83L|PRAME_uc002zwh.2_Silent_p.L83L|PRAME_uc002zwi.2_Silent_p.L83L|PRAME_uc002zwj.2_Silent_p.L83L|PRAME_uc002zwk.2_Silent_p.L83L	p.L83L	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	3	405	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	83					B2R6Y7|O43481|Q8IXN8	Silent	SNP	ENST00000398741.1	37	c.249G>A	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	c	2.997	-0.206787	0.06180	.	.	ENSG00000185686	ENST00000438888	.	.	.	3.46	2.42	0.29668	.	.	.	.	.	T	0.52208	0.1720	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45234	-0.9275	4	.	.	.	.	4.9568	0.14046	0.0:0.6615:0.2204:0.1181	.	.	.	.	R	107	.	.	G	-	1	0	PRAME	21223284	0.022000	0.18835	0.985000	0.45067	0.174000	0.22865	0.006000	0.13152	1.010000	0.39314	0.655000	0.94253	GGG		PASS	0.587	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		30	105	30	105	---	---	---	---
GGT5	2687	broad.mit.edu	37	22	24629879	24629879	+	Silent	SNP	G	G	A	rs199786821	byFrequency	TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr22:24629879G>A	ENST00000327365.4	-	2	683	c.267C>T	c.(265-267)ggC>ggT	p.G89G	GGT5_ENST00000418439.2_Intron|GGT5_ENST00000398292.3_Silent_p.G89G|GGT5_ENST00000263112.7_Silent_p.G89G	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	89					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.G89G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGACCCCTCCGCCCAGGCCCA	0.612													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20067	0.001		0.0	False		,,,				2504	0.0					uc002zzo.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(265-267)GGC>GGT		gamma-glutamyltransferase 5 isoform b		G	,,	1,4405	2.1+/-5.4	0,1,2202	117.0	95.0	103.0		267,267,267	-9.7	0.6	22		103	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	GGT5	NM_001099781.1,NM_001099782.1,NM_004121.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	89/588,89/555,89/587	24629879	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24629879G>A	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.267C>T	22.37:g.24629879G>A						GGT5_uc002zzp.3_Silent_p.G89G|GGT5_uc002zzr.3_Silent_p.G89G|GGT5_uc002zzq.3_Silent_p.G89G|GGT5_uc011ajm.1_Intron|GGT5_uc011ajn.1_Intron	p.G89G	NM_004121	NP_004112	P36269	GGT5_HUMAN			2	684	-			89			Extracellular (Potential).		Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Silent	SNP	ENST00000327365.4	37	c.267C>T	CCDS13825.1																																																																																				PASS	0.612	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		24	38	24	38	---	---	---	---
PES1	23481	broad.mit.edu	37	22	30975748	30975748	+	Silent	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr22:30975748T>A	ENST00000405677.1	-	14	1870	c.927A>T	c.(925-927)ggA>ggT	p.G309G	PES1_ENST00000402284.3_Silent_p.G431G|PES1_ENST00000354694.7_Silent_p.G448G|PES1_ENST00000335214.6_Silent_p.G443G|PES1_ENST00000402281.1_Silent_p.G309G	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1									p.G448G(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CTGGGTCCTCTCCCCGCTGCA	0.622																																						uc003aij.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1342-1344)GGA>GGT		pescadillo homolog 1, containing BRCT domain							55.0	54.0	54.0					22																	30975748		2203	4300	6503	SO:0001819	synonymous_variant	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30975748T>A	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.927A>T	22.37:g.30975748T>A						PES1_uc003aik.1_Silent_p.G443G|PES1_uc003ail.1_Silent_p.G431G|PES1_uc003aim.1_Silent_p.G448G|PES1_uc003ain.1_Silent_p.G309G|PES1_uc003aio.1_Silent_p.G309G	p.G448G	NM_014303	NP_055118	O00541	PESC_HUMAN			12	1418	-			448						Silent	SNP	ENST00000405677.1	37	c.1344A>T		.	.	.	.	.	.	.	.	.	.	T	11.57	1.678984	0.29783	.	.	ENSG00000100029	ENST00000441668	.	.	.	4.89	-2.35	0.06684	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.9788	5.4703	0.16666	0.0912:0.0725:0.3998:0.4364	.	.	.	.	X	55	.	.	R	-	1	2	PES1	29305748	0.878000	0.30173	0.997000	0.53966	0.995000	0.86356	-0.101000	0.10973	-0.081000	0.12662	0.533000	0.62120	AGA		PASS	0.622	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303		31	67	31	67	---	---	---	---
TMPRSS6	164656	broad.mit.edu	37	22	37480798	37480798	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr22:37480798G>A	ENST00000346753.3	-	9	1198	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.S352L|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.S361L|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.S352L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.S352L|RP5-1170K4.7_ENST00000414203.2_RNA	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	361	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.S361L(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGTTTGGGGCGAGTAGTAGCT	0.652																																						uc003aqs.1																			1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(1)|skin(1)	6						c.(1081-1083)TCG>TTG		transmembrane protease, serine 6							87.0	73.0	78.0					22																	37480798		2197	4290	6487	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37480798G>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1082C>T	22.37:g.37480798G>A	ENSP00000334962:p.Ser361Leu					TMPRSS6_uc003aqt.1_Missense_Mutation_p.S352L|TMPRSS6_uc003aqu.2_Missense_Mutation_p.S352L	p.S361L	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN			9	1196	-			361			CUB 2.|Extracellular (Potential).		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.1082C>T	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	g	22.0	4.227300	0.79576	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000429068;ENST00000442782	T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05	4.52	4.52	0.55395	CUB (4);	0.083264	0.49916	D	0.000130	T	0.40670	0.1126	L	0.57536	1.79	0.48288	D	0.99962	D;D;D	0.71674	0.998;0.995;0.992	P;P;P	0.61874	0.895;0.661;0.46	T	0.37314	-0.9711	10	0.87932	D	0	.	16.2328	0.82357	0.0:0.0:1.0:0.0	.	361;352;361	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	L	352;361;352;352;23;361	ENSP00000371211:S352L;ENSP00000334962:S361L;ENSP00000385453:S352L;ENSP00000384964:S352L;ENSP00000392433:S23L;ENSP00000397691:S361L	ENSP00000334962:S361L	S	-	2	0	TMPRSS6	35810744	1.000000	0.71417	0.995000	0.50966	0.565000	0.35776	8.359000	0.90093	2.056000	0.61249	0.558000	0.71614	TCG		PASS	0.652	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		4	9	4	9	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38130422	38130422	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr22:38130422C>A	ENST00000406386.3	+	9	4334	c.4079C>A	c.(4078-4080)gCc>gAc	p.A1360D		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1360					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.A1360D(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ATGCTCCCTGCCAAACAGGCA	0.637																																						uc003atr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(4078-4080)GCC>GAC		TRIO and F-actin binding protein isoform 6							28.0	32.0	31.0					22																	38130422		1978	4148	6126	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38130422C>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4079C>A	22.37:g.38130422C>A	ENSP00000384312:p.Ala1360Asp					TRIOBP_uc003atu.2_Missense_Mutation_p.A1188D	p.A1360D	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			9	4350	+	Melanoma(58;0.0574)		1360					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.4079C>A	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658775	0.47467	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.23147	1.92	4.82	-3.55	0.04639	.	.	.	.	.	T	0.11879	0.0289	N	0.19112	0.55	0.18873	N	0.999988	B	0.33694	0.421	B	0.27380	0.079	T	0.16364	-1.0405	9	0.52906	T	0.07	.	5.1038	0.14773	0.1357:0.403:0.0:0.4613	.	1360	Q9H2D6	TARA_HUMAN	D	1360;1321	ENSP00000384312:A1360D	ENSP00000384312:A1360D	A	+	2	0	TRIOBP	36460368	0.000000	0.05858	0.189000	0.23252	0.880000	0.50808	-0.667000	0.05274	-0.758000	0.04690	0.563000	0.77884	GCC		PASS	0.637	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			26	37	26	37	---	---	---	---
MICALL1	85377	broad.mit.edu	37	22	38320668	38320668	+	Splice_Site	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr22:38320668G>A	ENST00000215957.6	+	7	1152	c.1026G>A	c.(1024-1026)ggG>ggA	p.G342G		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	342	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.G342G(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CCCATCTAGGGAGACTGCACG	0.662																																						uc003aui.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1024-1026)GGG>GGA		molecule interacting with Rab13							73.0	71.0	72.0					22																	38320668		2203	4300	6503	SO:0001630	splice_region_variant	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38320668G>A	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1025-1G>A	22.37:g.38320668G>A							p.G342G	NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN			7	1110	+	Melanoma(58;0.045)		342			Pro-rich.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	c.1026G>A	CCDS13961.1																																																																																				PASS	0.662	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386	Silent	55	76	55	76	---	---	---	---
ACO2	50	broad.mit.edu	37	22	41911921	41911921	+	Splice_Site	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr22:41911921G>T	ENST00000216254.4	+	6	857	c.835G>T	c.(835-837)Ggc>Tgc	p.G279C	ACO2_ENST00000466237.1_3'UTR|ACO2_ENST00000396512.3_Missense_Mutation_p.G279C	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	279					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)	p.G279C(1)		breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CTCCTGCACTGGTGAGGAAGG	0.587																																						uc003bac.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)	4						c.(835-837)GGC>TGC		aconitase 2, mitochondrial precursor							47.0	36.0	39.0					22																	41911921		2203	4300	6503	SO:0001630	splice_region_variant	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41911921G>T	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.835+1G>T	22.37:g.41911921G>T						ACO2_uc003bad.2_Missense_Mutation_p.G279C	p.G279C	NM_001098	NP_001089	Q99798	ACON_HUMAN			6	857	+			279					O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	ENST00000216254.4	37	c.835G>T	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133409	0.94517	.	.	ENSG00000100412	ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.78707	-1.2;0.75	5.67	5.67	0.87782	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (3);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.046331	0.85682	D	0.000000	D	0.93400	0.7895	H	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95776	0.8813	10	0.87932	D	0	.	17.9503	0.89051	0.0:0.0:1.0:0.0	.	279;279	A2A274;Q99798	.;ACON_HUMAN	C	260;279;279	ENSP00000216254:G279C;ENSP00000379769:G279C	ENSP00000216254:G279C	G	+	1	0	ACO2	40241867	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.753000	0.91637	2.659000	0.90383	0.655000	0.94253	GGC;GGC;GGT		PASS	0.587	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098	Missense_Mutation	13	20	13	20	---	---	---	---
TRMU	55687	broad.mit.edu	37	22	46749686	46749686	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr22:46749686C>A	ENST00000290846.4	+	8	1135	c.795C>A	c.(793-795)ggC>ggA	p.G265G	TRMU_ENST00000381019.3_Silent_p.G265G	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	265					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)	p.G265G(1)		NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		ATACCTTGGGCCAGAGAGCAA	0.547																																						uc003bhp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(793-795)GGC>GGA		tRNA 5-methylaminomethyl-2-thiouridylate							173.0	145.0	155.0					22																	46749686		2203	4300	6503	SO:0001819	synonymous_variant	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46749686C>A	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.795C>A	22.37:g.46749686C>A						TRMU_uc011arb.1_Silent_p.G265G|TRMU_uc003bhq.2_Silent_p.G47G|TRMU_uc003bhs.2_Silent_p.G265G|TRMU_uc003bhr.2_Silent_p.G151G|TRMU_uc003bht.2_Silent_p.G118G|TRMU_uc003bhu.2_Silent_p.G47G|TRMU_uc003bhv.2_Silent_p.G118G	p.G265G	NM_018006	NP_060476	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	8	1159	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	265					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Silent	SNP	ENST00000290846.4	37	c.795C>A	CCDS14075.1																																																																																				PASS	0.547	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		53	99	53	99	---	---	---	---
GRAMD4	23151	broad.mit.edu	37	22	47069575	47069575	+	Silent	SNP	G	G	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr22:47069575G>C	ENST00000406902.1	+	15	1461	c.1248G>C	c.(1246-1248)acG>acC	p.T416T	GRAMD4_ENST00000361034.3_Silent_p.T416T|GRAMD4_ENST00000408031.1_5'Flank			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	416					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.T416T(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AGCTGCAGACGACCTCGTCAC	0.647																																						uc003bhx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1246-1248)ACG>ACC		death-inducing-protein							68.0	71.0	70.0					22																	47069575		2203	4300	6503	SO:0001819	synonymous_variant	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47069575G>C		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.1248G>C	22.37:g.47069575G>C						GRAMD4_uc010had.2_Silent_p.T355T|GRAMD4_uc003bhy.2_5'Flank	p.T416T	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	14	1287	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)	416					A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Silent	SNP	ENST00000406902.1	37	c.1248G>C	CCDS33672.1																																																																																				PASS	0.647	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124		52	94	52	94	---	---	---	---
SHANK3	85358	broad.mit.edu	37	22	51117847	51117847	+	Silent	SNP	C	C	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr22:51117847C>G	ENST00000414786.2	+	7	1103	c.876C>G	c.(874-876)ctC>ctG	p.L292L	SHANK3_ENST00000445220.2_Silent_p.L292L|SHANK3_ENST00000262795.3_Silent_p.L292L			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	292					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.L292L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TCTGTGCCCTCTACAACCAGG	0.597																																						uc003bne.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(874-876)CTC>CTG		SH3 and multiple ankyrin repeat domains 3							36.0	43.0	41.0					22																	51117847		2198	4295	6493	SO:0001819	synonymous_variant	85358							g.chr22:51117847C>G	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.876C>G	22.37:g.51117847C>G							p.L292L	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	7	876	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	292					D7UT47|Q8TET3	Silent	SNP	ENST00000414786.2	37	c.876C>G																																																																																					PASS	0.597	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		15	34	15	34	---	---	---	---
DHRSX	207063	broad.mit.edu	37	X	2184966	2184966	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:2184966C>A	ENST00000334651.5	-	5	463	c.411G>T	c.(409-411)caG>caT	p.Q137H	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	137							oxidoreductase activity (GO:0016491)	p.Q137H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGGTTTTCCTCTGAGGGACCA	0.493																																						uc004cqf.3																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)CAG>CAT		dehydrogenase/reductase (SDR family) X-linked							273.0	251.0	259.0					X																	2184966		2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2184966C>A	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.411G>T	X.37:g.2184966C>A	ENSP00000334113:p.Gln137His						p.Q137H	NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN			5	460	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	137					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.411G>T	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	C	9.667	1.145767	0.21288	.	.	ENSG00000169084	ENST00000334651;ENST00000412516;ENST00000444280	D;D;D	0.87809	-2.3;-2.3;-2.3	2.17	2.17	0.27698	NAD(P)-binding domain (1);	0.312075	0.27896	U	0.017417	T	0.77253	0.4103	N	0.11201	0.11	0.09310	N	1	D	0.55800	0.973	P	0.51229	0.663	T	0.67643	-0.5618	10	0.33141	T	0.24	.	6.0882	0.19978	0.0:0.7372:0.0:0.2628	.	137	Q8N5I4	DHRSX_HUMAN	H	137;114;70	ENSP00000334113:Q137H;ENSP00000391778:Q114H;ENSP00000402741:Q70H	ENSP00000334113:Q137H	Q	-	3	2	DHRSX	2194966	1.000000	0.71417	0.796000	0.32109	0.851000	0.48451	1.218000	0.32467	0.859000	0.35456	0.279000	0.19357	CAG		PASS	0.493	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		129	92	129	92	---	---	---	---
ARSD	414	broad.mit.edu	37	X	2828760	2828760	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:2828760C>T	ENST00000381154.1	-	7	1150	c.1075G>A	c.(1075-1077)Gga>Aga	p.G359R	ARSD_ENST00000217890.6_5'Flank	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	359					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.G359R(1)		large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTAAATGTCCTCCATGGTCA	0.433																																						uc004cqy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1075-1077)GGA>AGA		arylsulfatase D isoform a precursor							319.0	251.0	274.0					X																	2828760		2203	4300	6503	SO:0001583	missense	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2828760C>T	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1075G>A	X.37:g.2828760C>T	ENSP00000370546:p.Gly359Arg					ARSD_uc004cqz.1_Intron	p.G359R	NM_001669	NP_001660	P51689	ARSD_HUMAN			7	1151	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	359					Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	c.1075G>A	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642564	0.47153	.	.	ENSG00000006756	ENST00000381154	D	0.98531	-4.98	3.3	3.3	0.37823	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.295730	0.32175	U	0.006462	D	0.99196	0.9721	H	0.95328	3.655	0.58432	D	0.999993	D	0.89917	1.0	D	0.85130	0.997	D	0.99139	1.0855	10	0.87932	D	0	.	14.1492	0.65370	0.0:1.0:0.0:0.0	.	359	P51689	ARSD_HUMAN	R	359	ENSP00000370546:G359R	ENSP00000370546:G359R	G	-	1	0	ARSD	2838760	0.998000	0.40836	0.012000	0.15200	0.174000	0.22865	6.058000	0.71126	1.291000	0.44653	0.431000	0.28591	GGA		PASS	0.433	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			108	36	108	36	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3261854	3261854	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:3261854C>A	ENST00000217939.6	-	2	175	c.21G>T	c.(19-21)tgG>tgT	p.W7C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	7						extracellular vesicular exosome (GO:0070062)		p.W7C(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGAGGGCCCCCCAGTGCGCGC	0.622																																						uc004crg.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(19-21)TGG>TGT		adlican precursor							19.0	21.0	20.0					X																	3261854		2201	4296	6497	SO:0001583	missense	25878					extracellular region		g.chrX:3261854C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.21G>T	X.37:g.3261854C>A	ENSP00000217939:p.Trp7Cys						p.W7C	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			2	178	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	7					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.21G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	6.191	0.403377	0.11754	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64991	-0.13	3.11	2.2	0.27929	.	0.226724	0.22690	U	0.056830	T	0.51363	0.1670	L	0.35593	1.075	0.09310	N	1	D	0.64830	0.994	P	0.48189	0.57	T	0.46456	-0.9190	10	0.72032	D	0.01	.	5.0174	0.14343	0.0:0.6194:0.1726:0.2081	.	7	Q9NR99	MXRA5_HUMAN	C	7	ENSP00000217939:W7C	ENSP00000217939:W7C	W	-	3	0	MXRA5	3271854	0.000000	0.05858	0.005000	0.12908	0.270000	0.26580	-0.058000	0.11750	0.191000	0.20236	0.459000	0.35465	TGG		PASS	0.622	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		18	4	18	4	---	---	---	---
STS	412	broad.mit.edu	37	X	7268228	7268228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:7268228C>T	ENST00000217961.4	+	10	1898	c.1678C>T	c.(1678-1680)Cag>Tag	p.Q560*		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	560			Q -> P (in IXL). {ECO:0000269|PubMed:10679952}.		cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)	p.Q560*(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	GCCCTGGCTTCAGCTGTGCTG	0.557									Ichthyosis																													uc004cry.3																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(1678-1680)CAG>TAG		steryl-sulfatase precursor	Estrone(DB00655)						43.0	39.0	40.0					X																	7268228		2203	4299	6502	SO:0001587	stop_gained	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7268228C>T	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1678C>T	X.37:g.7268228C>T	ENSP00000217961:p.Gln560*						p.Q560*	NM_000351	NP_000342	P08842	STS_HUMAN			10	1923	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	560		Q -> P (in IXL).	Lumenal.		B2RA47	Nonsense_Mutation	SNP	ENST00000217961.4	37	c.1678C>T	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	C	36	5.942521	0.97128	.	.	ENSG00000101846	ENST00000217961	.	.	.	4.11	4.11	0.48088	.	0.060036	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	14.3799	0.66905	0.0:1.0:0.0:0.0	.	.	.	.	X	560	.	ENSP00000217961:Q560X	Q	+	1	0	STS	7278228	1.000000	0.71417	0.370000	0.25965	0.597000	0.36814	6.737000	0.74816	1.659000	0.50751	0.600000	0.82982	CAG		PASS	0.557	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		30	5	30	5	---	---	---	---
CXorf23	256643	broad.mit.edu	37	X	19983480	19983480	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:19983480T>C	ENST00000379682.4	-	3	989	c.956A>G	c.(955-957)aAt>aGt	p.N319S	CXorf23_ENST00000379687.3_Missense_Mutation_p.N319S|CXorf23_ENST00000356980.3_Missense_Mutation_p.N319S			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	319						mitochondrion (GO:0005739)		p.N319S(1)		endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TAACTCTCTATTTAGAGGGCC	0.398																																						uc004czp.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(955-957)AAT>AGT		hypothetical protein LOC256643							75.0	69.0	71.0					X																	19983480		1822	4064	5886	SO:0001583	missense	256643					mitochondrion		g.chrX:19983480T>C	AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.956A>G	X.37:g.19983480T>C	ENSP00000369004:p.Asn319Ser					CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_5'UTR|CXorf23_uc004czo.2_Missense_Mutation_p.N269S	p.N319S	NM_198279	NP_938020	A2AJT9	CX023_HUMAN			3	956	-			319					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37	c.956A>G		.	.	.	.	.	.	.	.	.	.	T	10.37	1.331872	0.24167	.	.	ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038	T;T;T	0.15487	2.42;2.42;2.42	5.54	4.38	0.52667	.	.	.	.	.	T	0.22742	0.0549	L	0.29908	0.895	0.09310	N	1	D;P	0.61697	0.99;0.649	P;B	0.57502	0.822;0.273	T	0.06285	-1.0835	8	.	.	.	.	10.219	0.43186	0.0:0.0788:0.0:0.9212	.	319;319	A2AJT9-2;A2AJT9	.;CX023_HUMAN	S	319;319;319;207	ENSP00000369009:N319S;ENSP00000369004:N319S;ENSP00000349470:N319S	.	N	-	2	0	CXorf23	19893401	0.902000	0.30710	0.130000	0.21974	0.624000	0.37722	1.602000	0.36783	1.967000	0.57214	0.451000	0.29950	AAT		PASS	0.398	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		78	12	78	12	---	---	---	---
POLA1	5422	broad.mit.edu	37	X	24859851	24859851	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:24859851C>T	ENST00000379059.3	+	33	3816	c.3801C>T	c.(3799-3801)ctC>ctT	p.L1267L	POLA1_ENST00000379068.3_Silent_p.L1273L	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1267	DNA-binding region. {ECO:0000255}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.L1267L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	CAGCACAGCTCACTGATGAAG	0.383																																						uc004dbl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(3799-3801)CTC>CTT		DNA-directed DNA polymerase alpha 1	Clofarabine(DB00631)|Fludarabine(DB01073)						161.0	137.0	145.0					X																	24859851		2203	4300	6503	SO:0001819	synonymous_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24859851C>T		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.3801C>T	X.37:g.24859851C>T							p.L1267L	NM_016937	NP_058633	P09884	DPOLA_HUMAN			33	3824	+			1267			Potential.		Q86UQ7	Silent	SNP	ENST00000379059.3	37	c.3801C>T	CCDS14214.1																																																																																				PASS	0.383	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		40	14	40	14	---	---	---	---
TAB3	257397	broad.mit.edu	37	X	30849553	30849553	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:30849553C>T	ENST00000378933.1	-	8	2307	c.2130G>A	c.(2128-2130)cgG>cgA	p.R710R	TAB3_ENST00000378932.2_Silent_p.R682R|TAB3_ENST00000288422.2_Silent_p.R710R|TAB3_ENST00000378930.3_Silent_p.R710R	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	710					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.R710R(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TTCAGGTGTACCGTGGCATCT	0.493																																					Pancreas(164;1598 1985 29022 43301 49529)	uc004dcj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2128-2130)CGG>CGA		mitogen-activated protein kinase kinase kinase 7							101.0	71.0	81.0					X																	30849553		2202	4300	6502	SO:0001819	synonymous_variant	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30849553C>T	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.2130G>A	X.37:g.30849553C>T						TAB3_uc004dck.2_Silent_p.R710R|TAB3_uc010ngl.2_Silent_p.R682R	p.R710R	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN			11	2793	-			710			RanBP2-type.		A6NDD9|Q6VQR0	Silent	SNP	ENST00000378933.1	37	c.2130G>A	CCDS14226.1																																																																																				PASS	0.493	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		22	5	22	5	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32509416	32509416	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:32509416T>C	ENST00000357033.4	-	20	2806	c.2600A>G	c.(2599-2601)aAa>aGa	p.K867R	DMD_ENST00000378677.2_Missense_Mutation_p.K863R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	867					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.K862R(1)|p.K867R(1)|p.K863R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TAACTGACTTTTAATTGCTGT	0.373																																						uc004dda.1																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(2599-2601)AAA>AGA		dystrophin Dp427m isoform							105.0	94.0	98.0					X																	32509416		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32509416T>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2600A>G	X.37:g.32509416T>C	ENSP00000354923:p.Lys867Arg					DMD_uc004dcz.2_Missense_Mutation_p.K744R|DMD_uc004dcy.1_Missense_Mutation_p.K863R|DMD_uc004ddb.1_Missense_Mutation_p.K859R|DMD_uc010ngo.1_Intron	p.K867R	NM_004006	NP_003997	P11532	DMD_HUMAN			20	2844	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	867			Spectrin 5.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2600A>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.278862	0.23307	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.52295	0.67;0.67	5.03	3.86	0.44501	.	0.000000	0.39407	U	0.001368	T	0.27559	0.0677	N	0.14661	0.345	0.80722	D	1	B;B;B	0.21071	0.041;0.019;0.051	B;B;B	0.25884	0.019;0.064;0.032	T	0.07102	-1.0790	10	0.13853	T	0.58	.	9.5797	0.39479	0.0:0.0845:0.0:0.9155	.	859;867;863	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	R	859;863;867;867;744	ENSP00000367948:K863R;ENSP00000354923:K867R	ENSP00000354923:K867R	K	-	2	0	DMD	32419337	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.188000	0.50958	1.777000	0.52277	0.412000	0.27726	AAA		PASS	0.373	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		67	13	67	13	---	---	---	---
MAGEB16	139604	broad.mit.edu	37	X	35820581	35820581	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:35820581C>A	ENST00000399989.1	+	2	547	c.268C>A	c.(268-270)Caa>Aaa	p.Q90K	MAGEB16_ENST00000399985.1_Missense_Mutation_p.Q90K|MAGEB16_ENST00000399988.1_Missense_Mutation_p.Q90K|MAGEB16_ENST00000399987.1_Missense_Mutation_p.Q90K|MAGEB16_ENST00000399992.1_Missense_Mutation_p.Q122K	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	90								p.Q257K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TTCCAGCAATCAAGAAGAGGA	0.488																																						uc010ngt.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(268-270)CAA>AAA		melanoma antigen family B, 16							48.0	45.0	46.0					X																	35820581		1941	4156	6097	SO:0001583	missense	139604							g.chrX:35820581C>A		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.268C>A	X.37:g.35820581C>A	ENSP00000382871:p.Gln90Lys						p.Q90K	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN			2	547	+			90					A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	c.268C>A	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	C	7.901	0.734308	0.15574	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21	3.13	-6.26	0.02033	Melanoma associated antigen, MAGE, N-terminal (1);	0.726409	0.13861	N	0.357666	T	0.06554	0.0168	L	0.48877	1.53	0.09310	N	1	B	0.29955	0.263	B	0.30105	0.111	T	0.07597	-1.0764	10	0.52906	T	0.07	.	7.585	0.27987	0.3409:0.2388:0.4203:0.0	.	90	A2A368	MAGBG_HUMAN	K	90;122;90;90;90	ENSP00000382870:Q90K;ENSP00000382874:Q122K;ENSP00000382869:Q90K;ENSP00000382871:Q90K;ENSP00000382867:Q90K	ENSP00000382867:Q90K	Q	+	1	0	MAGEB16	35730502	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.735000	0.01847	-2.132000	0.00814	-0.476000	0.04901	CAA		PASS	0.488	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			11	2	11	2	---	---	---	---
GATA1	2623	broad.mit.edu	37	X	48652347	48652347	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:48652347G>A	ENST00000376670.3	+	6	1129	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	340					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.G340S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GGTGGCTGGGGGCAGCGGTAG	0.632			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	uc004dkq.3				Dom	yes		X	Xp11.23	2623	Mis|F	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						c.(1018-1020)GGC>AGC		GATA binding protein 1							36.0	32.0	33.0					X																	48652347		2203	4297	6500	SO:0001583	missense	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48652347G>A	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.1018G>A	X.37:g.48652347G>A	ENSP00000365858:p.Gly340Ser						p.G340S	NM_002049	NP_002040	P15976	GATA1_HUMAN			6	1109	+			340					Q96GB8	Missense_Mutation	SNP	ENST00000376670.3	37	c.1018G>A	CCDS14305.1	.	.	.	.	.	.	.	.	.	.	g	10.28	1.306511	0.23736	.	.	ENSG00000102145	ENST00000376670	D	0.97455	-4.39	4.47	2.64	0.31445	.	0.788509	0.11268	N	0.581869	D	0.89266	0.6666	N	0.08118	0	0.80722	D	1	B	0.18013	0.025	B	0.13407	0.009	T	0.78892	-0.2025	10	0.05721	T	0.95	-4.8595	7.0505	0.25071	0.2274:0.0:0.7726:0.0	.	340	P15976	GATA1_HUMAN	S	340	ENSP00000365858:G340S	ENSP00000365858:G340S	G	+	1	0	GATA1	48537291	1.000000	0.71417	0.996000	0.52242	0.842000	0.47809	1.189000	0.32114	0.188000	0.20168	0.365000	0.22127	GGC		PASS	0.632	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		5	2	5	2	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50165518	50165518	+	RNA	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:50165518G>T	ENST00000376025.2	-	0	822							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.H51N(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTTTCAAAGTGTGCAAACTGG	0.413																																						uc010njr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(763-765)CAC>AAC		diacylglycerol kinase kappa							86.0	81.0	82.0					X																	50165518		1943	4133	6076			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50165518G>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50165518G>T							p.H255N	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			3	823	-	Ovarian(276;0.236)		255			PH.		B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37	c.763C>A																																																																																					PASS	0.413	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		37	17	37	17	---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54012307	54012307	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:54012307T>C	ENST00000357988.5	-	17	2537	c.2179A>G	c.(2179-2181)Att>Gtt	p.I727V	PHF8_ENST00000338154.6_Missense_Mutation_p.I691V|PHF8_ENST00000338946.6_Missense_Mutation_p.I590V|PHF8_ENST00000322659.8_Intron	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	727					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|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)|zinc ion binding (GO:0008270)	p.I691V(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						AGATCAAGAATGCCACCAGCG	0.537																																						uc004dsu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2179-2181)ATT>GTT		PHD finger protein 8							279.0	182.0	215.0					X																	54012307		2203	4300	6503	SO:0001583	missense	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54012307T>C	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2179A>G	X.37:g.54012307T>C	ENSP00000350676:p.Ile727Val					PHF8_uc004dst.2_Missense_Mutation_p.I691V|PHF8_uc004dsv.2_Missense_Mutation_p.I557V|PHF8_uc004dsw.2_Missense_Mutation_p.I590V|PHF8_uc004dsx.2_Missense_Mutation_p.I455V|PHF8_uc004dsy.2_Intron	p.I727V	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN			17	2252	-			727					B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	c.2179A>G	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.25|19.25	3.791758|3.791758	0.70452|0.70452	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000443302|ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277	.|T;T;T	.|0.28895	.|1.87;1.63;1.59	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|0.153010	.|0.56097	.|D	.|0.000021	T|T	0.45617|0.45617	0.1351|0.1351	L|L	0.48362|0.48362	1.52|1.52	0.31084|0.31084	N|N	0.711604|0.711604	.|D;P;D;D	.|0.56968	.|0.978;0.803;0.978;0.963	.|D;P;D;D	.|0.70227	.|0.968;0.847;0.968;0.93	T|T	0.47509|0.47509	-0.9112|-0.9112	5|10	.|0.25751	.|T	.|0.34	-6.1093|-6.1093	13.1355|13.1355	0.59407|0.59407	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|691;590;626;727	.|Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1	.|.;.;.;PHF8_HUMAN	R|V	454|727;691;590;620	.|ENSP00000350676:I727V;ENSP00000338868:I691V;ENSP00000340051:I590V	.|ENSP00000338868:I691V	H|I	-|-	2|1	0|0	PHF8|PHF8	54029032|54029032	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.423000|5.423000	0.66458|0.66458	1.743000|1.743000	0.51761|0.51761	0.486000|0.486000	0.48141|0.48141	CAT|ATT		PASS	0.537	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		48	21	48	21	---	---	---	---
PFKFB1	5207	broad.mit.edu	37	X	54986326	54986326	+	Splice_Site	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:54986326C>T	ENST00000375006.3	-	4	388	c.318G>A	c.(316-318)aaG>aaA	p.K106K	PFKFB1_ENST00000374992.2_Splice_Site_p.K84K|PFKFB1_ENST00000545676.1_Splice_Site_p.K41K	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	106	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)	p.K106K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GGGCGCACTGCCTGAAATAGA	0.443																																						uc004dty.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(316-318)AAG>AAA		6-phosphofructo-2-kinase/fructose-2,							40.0	37.0	38.0					X																	54986326		2203	4300	6503	SO:0001630	splice_region_variant	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54986326C>T		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.318-1G>A	X.37:g.54986326C>T						PFKFB1_uc010nkd.1_Silent_p.K92K|PFKFB1_uc011mol.1_Silent_p.K41K	p.K106K	NM_002625	NP_002616	P16118	F261_HUMAN			4	389	-			106			6-phosphofructo-2-kinase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Silent	SNP	ENST00000375006.3	37	c.318G>A	CCDS14364.1																																																																																				PASS	0.443	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1		Silent	25	5	25	5	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65393453	65393453	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:65393453C>T	ENST00000343002.2	+	3	1099	c.435C>T	c.(433-435)tcC>tcT	p.S145S	HEPH_ENST00000519389.1_Silent_p.S199S|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000374727.3_Silent_p.S148S|HEPH_ENST00000441993.2_Silent_p.S148S|HEPH_ENST00000419594.1_Silent_p.S148S			Q9BQS7	HEPH_HUMAN	hephaestin	145	Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.S145S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAGATGGCTCCTCTGGGCCAC	0.517																																						uc011moz.1																			1	Substitution - coding silent(1)		lung(1)	lung(5)|ovary(4)	9						c.(442-444)TCC>TCT		hephaestin isoform a							80.0	68.0	72.0					X																	65393453		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65393453C>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.435C>T	X.37:g.65393453C>T						HEPH_uc004dwn.2_Silent_p.S148S|HEPH_uc004dwo.2_5'UTR|HEPH_uc010nkr.2_Silent_p.S148S|HEPH_uc011mpa.1_Silent_p.S148S	p.S148S	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			4	504	+			145			Extracellular (Potential).|Plastocyanin-like 1.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.444C>T																																																																																					PASS	0.517	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		22	5	22	5	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65409665	65409665	+	Silent	SNP	T	T	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:65409665T>A	ENST00000343002.2	+	5	1612	c.948T>A	c.(946-948)cgT>cgA	p.R316R	HEPH_ENST00000519389.1_Silent_p.R370R|HEPH_ENST00000336279.5_Silent_p.R49R|HEPH_ENST00000374727.3_Silent_p.R319R|HEPH_ENST00000441993.2_Silent_p.R319R|HEPH_ENST00000419594.1_Silent_p.R319R			Q9BQS7	HEPH_HUMAN	hephaestin	316	Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.R316R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGACTACCCGTGGACACCACA	0.502																																						uc011moz.1																			1	Substitution - coding silent(1)		lung(1)	lung(5)|ovary(4)	9						c.(955-957)CGT>CGA		hephaestin isoform a							133.0	93.0	106.0					X																	65409665		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65409665T>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.948T>A	X.37:g.65409665T>A						HEPH_uc004dwn.2_Silent_p.R319R|HEPH_uc004dwo.2_Silent_p.R49R|HEPH_uc010nkr.2_Silent_p.R319R|HEPH_uc011mpa.1_Silent_p.R319R	p.R319R	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			6	1017	+			316			Extracellular (Potential).|Plastocyanin-like 2.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.957T>A																																																																																					PASS	0.502	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		14	4	14	4	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65476032	65476032	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:65476032G>A	ENST00000343002.2	+	16	3420	c.2756G>A	c.(2755-2757)cGg>cAg	p.R919Q	HEPH_ENST00000519389.1_Missense_Mutation_p.R973Q|HEPH_ENST00000336279.5_Missense_Mutation_p.R652Q|HEPH_ENST00000374727.3_Missense_Mutation_p.R922Q|HEPH_ENST00000441993.2_Missense_Mutation_p.R922Q|HEPH_ENST00000419594.1_Missense_Mutation_p.R730Q			Q9BQS7	HEPH_HUMAN	hephaestin	919	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.R919Q(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GACATGGATCGGGAATTTGCA	0.498																																						uc011moz.1																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)	9						c.(2764-2766)CGG>CAG		hephaestin isoform a							166.0	152.0	156.0					X																	65476032		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65476032G>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2756G>A	X.37:g.65476032G>A	ENSP00000343939:p.Arg919Gln					HEPH_uc004dwn.2_Missense_Mutation_p.R922Q|HEPH_uc004dwo.2_Missense_Mutation_p.R652Q|HEPH_uc010nkr.2_Missense_Mutation_p.R730Q|HEPH_uc011mpa.1_Missense_Mutation_p.R922Q|HEPH_uc010nks.2_Missense_Mutation_p.R211Q	p.R922Q	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			17	2825	+			919			Extracellular (Potential).|Plastocyanin-like 6.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.2765G>A		.	.	.	.	.	.	.	.	.	.	G	10.41	1.342010	0.24339	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03;-5.03	4.43	3.56	0.40772	Cupredoxin (1);	0.221461	0.36854	N	0.002380	D	0.97021	0.9027	L	0.42744	1.35	0.09310	N	1	B;B;P;B	0.52463	0.265;0.265;0.953;0.014	B;B;P;B	0.47744	0.048;0.023;0.556;0.014	D	0.92816	0.6268	10	0.39692	T	0.17	.	10.5348	0.44998	0.099:0.0:0.901:0.0	.	973;319;730;919	E9PHN8;B4DFV3;E7ES21;Q9BQS7	.;.;.;HEPH_HUMAN	Q	973;922;652;922;730;919	ENSP00000430620:R973Q;ENSP00000363859:R922Q;ENSP00000337418:R652Q;ENSP00000411687:R922Q;ENSP00000413211:R730Q;ENSP00000343939:R919Q	ENSP00000337418:R652Q	R	+	2	0	HEPH	65392757	0.464000	0.25807	0.165000	0.22776	0.478000	0.33099	2.006000	0.40874	1.003000	0.39130	0.600000	0.82982	CGG		PASS	0.498	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		47	13	47	13	---	---	---	---
IL2RG	3561	broad.mit.edu	37	X	70330030	70330030	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:70330030C>A	ENST00000374202.2	-	4	661	c.570G>T	c.(568-570)cgG>cgT	p.R190R	IL2RG_ENST00000374188.3_5'Flank|IL2RG_ENST00000456850.2_Intron	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	190	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)	p.R190R(2)		breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	CCCAGTCAGTCCGGTACTGCA	0.478									Severe Combined Immunodeficiency, X-linked																													uc004dyw.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(568-570)CGG>CGT		interleukin 2 receptor, gamma precursor	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)						194.0	138.0	157.0					X																	70330030		2203	4300	6503	SO:0001819	synonymous_variant	3561	Severe_Combined_Immunodeficiency_X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70330030C>A	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.570G>T	X.37:g.70330030C>A						IL2RG_uc004dyv.1_5'Flank|IL2RG_uc004dyx.1_Intron	p.R190R	NM_000206	NP_000197	P31785	IL2RG_HUMAN			4	584	-	Renal(35;0.156)		190			Extracellular (Potential).|Fibronectin type-III.		Q5FC12	Silent	SNP	ENST00000374202.2	37	c.570G>T	CCDS14406.1																																																																																				PASS	0.478	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2			65	15	65	15	---	---	---	---
TGIF2LX	90316	broad.mit.edu	37	X	89177433	89177433	+	Nonsense_Mutation	SNP	A	A	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:89177433A>T	ENST00000561129.2	+	1	479	c.349A>T	c.(349-351)Aga>Tga	p.R117*	TGIF2LX_ENST00000283891.5_Nonsense_Mutation_p.R117*			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R117*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TCAACAGCGTAGAAACGACCC	0.532																																						uc004efe.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(349-351)AGA>TGA		TGFB-induced factor homeobox 2-like, X-linked							66.0	62.0	63.0					X																	89177433		2203	4297	6500	SO:0001587	stop_gained	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177433A>T	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.349A>T	X.37:g.89177433A>T	ENSP00000453704:p.Arg117*						p.R117*	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	398	+			117					Q5JRM9|Q8TD48	Nonsense_Mutation	SNP	ENST00000561129.2	37	c.349A>T	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928507	0.52759	.	.	ENSG00000153779	ENST00000283891	.	.	.	2.65	0.844	0.18943	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.409	6.5586	0.22474	0.2773:0.0:0.7227:0.0	.	.	.	.	X	117	.	.	R	+	1	2	TGIF2LX	89064089	1.000000	0.71417	0.000000	0.03702	0.003000	0.03518	3.497000	0.53295	0.105000	0.17753	-0.319000	0.08680	AGA		PASS	0.532	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		47	11	47	11	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91133246	91133246	+	Silent	SNP	C	C	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:91133246C>T	ENST00000373094.1	+	2	2852	c.2007C>T	c.(2005-2007)aaC>aaT	p.N669N	PCDH11X_ENST00000361724.1_Silent_p.N669N|PCDH11X_ENST00000298274.8_Silent_p.N669N|PCDH11X_ENST00000361655.2_Silent_p.N669N|PCDH11X_ENST00000373088.1_Silent_p.N669N|PCDH11X_ENST00000504220.2_Silent_p.N669N|PCDH11X_ENST00000395337.2_Silent_p.N669N|PCDH11X_ENST00000373097.1_Silent_p.N669N|PCDH11X_ENST00000406881.1_Silent_p.N669N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	669	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N669N(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCAATGACAACAAACCAGTTT	0.408																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - coding silent(3)		lung(3)	large_intestine(2)	2						c.(2005-2007)AAC>AAT		protocadherin 11 X-linked isoform c							125.0	113.0	117.0					X																	91133246		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133246C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2007C>T	X.37:g.91133246C>T						PCDH11X_uc004efl.1_Silent_p.N669N|PCDH11X_uc004efo.1_Silent_p.N669N|PCDH11X_uc010nmv.1_Silent_p.N669N|PCDH11X_uc004efm.1_Silent_p.N669N|PCDH11X_uc004efn.1_Silent_p.N669N|PCDH11X_uc004efh.1_Silent_p.N669N|PCDH11X_uc004efj.1_Silent_p.N669N	p.N669N	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	2852	+			669			Extracellular (Potential).|Cadherin 6.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.2007C>T	CCDS14461.1																																																																																				PASS	0.408	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		71	19	71	19	---	---	---	---
DRP2	1821	broad.mit.edu	37	X	100497460	100497460	+	Splice_Site	SNP	G	G	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:100497460G>A	ENST00000395209.3	+	8	1502	c.975G>A	c.(973-975)caG>caA	p.Q325Q	DRP2_ENST00000538510.1_Splice_Site_p.Q325Q|DRP2_ENST00000402866.1_Splice_Site_p.Q325Q|DRP2_ENST00000541709.1_Splice_Site_p.Q247Q	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	325					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.Q322Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						AACAACTACAGGTAGAAGAGC	0.498																																						uc004egz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(973-975)CAG>CAA		dystrophin related protein 2							97.0	89.0	91.0					X																	100497460		2203	4300	6503	SO:0001630	splice_region_variant	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100497460G>A	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.975+1G>A	X.37:g.100497460G>A						DRP2_uc011mrh.1_Silent_p.Q247Q	p.Q325Q	NM_001939	NP_001930	Q13474	DRP2_HUMAN			8	1344	+			325			Spectrin 2.		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Silent	SNP	ENST00000395209.3	37	c.975G>A	CCDS14480.2																																																																																				PASS	0.498	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939	Silent	67	25	67	25	---	---	---	---
ARMCX2	9823	broad.mit.edu	37	X	100911581	100911581	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:100911581G>T	ENST00000328766.5	-	5	1447	c.994C>A	c.(994-996)Ctg>Atg	p.L332M	ARMCX2_ENST00000356824.4_Missense_Mutation_p.L332M|ARMCX2_ENST00000330154.2_Missense_Mutation_p.L332M|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	332						integral component of membrane (GO:0016021)		p.L332M(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						ACCTCTGCCAGGAAAGCCTGT	0.592																																						uc004eid.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(994-996)CTG>ATG		ALEX2 protein							59.0	64.0	62.0					X																	100911581		2203	4300	6503	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911581G>T	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.994C>A	X.37:g.100911581G>T	ENSP00000331662:p.Leu332Met					ARMCX2_uc004eie.3_Missense_Mutation_p.L332M|ARMCX2_uc004eif.3_Missense_Mutation_p.L332M|ARMCX2_uc004eig.3_Missense_Mutation_p.L332M|ARMCX2_uc010nnt.2_Missense_Mutation_p.L332M	p.L332M	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN			3	1349	-			332					O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.994C>A	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	G	9.643	1.139411	0.21205	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.37411	1.2;1.2;1.2	3.66	1.87	0.25490	.	0.368348	0.21884	N	0.067692	T	0.19087	0.0458	N	0.19112	0.55	0.27802	N	0.942437	P	0.41214	0.742	B	0.37047	0.24	T	0.08722	-1.0708	10	0.32370	T	0.25	-4.2658	7.0938	0.25299	0.2425:0.0:0.7575:0.0	.	332	Q7L311	ARMX2_HUMAN	M	332	ENSP00000331662:L332M;ENSP00000328631:L332M;ENSP00000349281:L332M	ENSP00000331662:L332M	L	-	1	2	ARMCX2	100798237	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.297000	0.33400	0.367000	0.24454	0.422000	0.28245	CTG		PASS	0.592	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		53	12	53	12	---	---	---	---
RNF128	79589	broad.mit.edu	37	X	106031167	106031167	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:106031167A>G	ENST00000255499.2	+	4	1074	c.824A>G	c.(823-825)gAt>gGt	p.D275G	RNF128_ENST00000324342.3_Missense_Mutation_p.D249G	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	275					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D275G(1)|p.D249G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CCTGATGGAGATAGTTGTGCT	0.323																																						uc004eml.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(823-825)GAT>GGT		ring finger protein 128 isoform 1							210.0	172.0	185.0					X																	106031167		2201	4300	6501	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106031167A>G	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.824A>G	X.37:g.106031167A>G	ENSP00000255499:p.Asp275Gly					RNF128_uc004emk.2_Missense_Mutation_p.D249G	p.D275G	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN			4	1074	+			275					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	c.824A>G	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.362949	0.61403	.	.	ENSG00000133135	ENST00000418562;ENST00000324342;ENST00000255499	T;T;T	0.68025	-0.3;0.98;0.98	5.26	5.26	0.73747	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-H2-type (1);	0.054750	0.64402	D	0.000001	T	0.81781	0.4895	M	0.83603	2.65	0.58432	D	0.999999	D;D	0.71674	0.998;0.984	D;D	0.70487	0.969;0.954	D	0.84694	0.0724	10	0.87932	D	0	.	12.9945	0.58638	1.0:0.0:0.0:0.0	.	275;249	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	G	222;249;275	ENSP00000412610:D222G;ENSP00000316127:D249G;ENSP00000255499:D275G	ENSP00000255499:D275G	D	+	2	0	RNF128	105917823	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	6.393000	0.73217	1.745000	0.51790	0.481000	0.45027	GAT		PASS	0.323	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		36	12	36	12	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111078268	111078269	+	Nonsense_Mutation	DNP	TG	TG	AA			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:111078268_111078269TG>AA	ENST00000262839.2	-	7	2694_2695	c.1776_1777CA>TT	c.(1774-1779)gcCAga>gcTTga	p.R593*		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	593					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.R593*(2)|p.A592A(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AATTCGTGTCTGGCTTTCACAT	0.416																																						uc004epl.1																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	urinary_tract(1)	1						c.(1777-1779)AGA>TGA|c.(1774-1776)GCC>GCT		transient receptor potential cation channel,																																				SO:0001587	stop_gained	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111078268T>A|g.chrX:111078269G>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1776_1777delinsAA	X.37:g.111078268_111078269delinsAA	ENSP00000262839:p.Arg593*					TRPC5_uc004epm.1_Nonsense_Mutation_p.R593*|TRPC5_uc004epm.1_Silent_p.A592A	p.R593*|p.A592A	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			7	2696|2695	-			593|592			Extracellular (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Nonsense_Mutation|Silent	SNP	ENST00000262839.2	37	c.1777A>T|c.1776C>T	CCDS14561.1																																																																																				PASS	0.416	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		244|241	51|50	241	50	---	---	---	---
STAG2	10735	broad.mit.edu	37	X	123205135	123205135	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:123205135A>G	ENST00000371160.1	+	25	2785	c.2495A>G	c.(2494-2496)cAt>cGt	p.H832R	STAG2_ENST00000371144.3_Missense_Mutation_p.H832R|STAG2_ENST00000371145.3_Missense_Mutation_p.H832R|STAG2_ENST00000354548.5_Missense_Mutation_p.H763R|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.H832R|STAG2_ENST00000371157.3_Missense_Mutation_p.H832R	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	832					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.H832R(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATTTTGGATCATGTCTTCATT	0.363																																						uc004etz.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(2494-2496)CAT>CGT		stromal antigen 2 isoform b							188.0	159.0	169.0					X																	123205135		2203	4300	6503	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123205135A>G	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2495A>G	X.37:g.123205135A>G	ENSP00000360202:p.His832Arg					STAG2_uc004eua.2_Missense_Mutation_p.H832R|STAG2_uc004eub.2_Missense_Mutation_p.H832R|STAG2_uc004euc.2_Missense_Mutation_p.H832R|STAG2_uc004eud.2_Missense_Mutation_p.H832R|STAG2_uc004eue.2_Missense_Mutation_p.H832R	p.H832R	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			24	2834	+			832					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.2495A>G	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.800397	0.50315	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.30981	1.91;1.52;1.51;1.51;1.91;1.51	5.44	5.44	0.79542	.	0.050618	0.85682	D	0.000000	T	0.42471	0.1204	M	0.69185	2.1	0.58432	D	0.999999	B;P	0.51240	0.155;0.943	B;P	0.49451	0.111;0.611	T	0.34725	-0.9817	10	0.44086	T	0.13	-5.1081	14.5744	0.68235	1.0:0.0:0.0:0.0	.	832;832	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	R	832;763;832;832;832;832	ENSP00000218089:H832R;ENSP00000346555:H763R;ENSP00000360202:H832R;ENSP00000360199:H832R;ENSP00000360187:H832R;ENSP00000360186:H832R	ENSP00000218089:H832R	H	+	2	0	STAG2	123032816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	1.823000	0.53134	0.437000	0.28790	CAT		PASS	0.363	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		92	26	92	26	---	---	---	---
XPNPEP2	7512	broad.mit.edu	37	X	128879190	128879190	+	Silent	SNP	C	C	A			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:128879190C>A	ENST00000371106.3	+	4	438	c.246C>A	c.(244-246)atC>atA	p.I82I	XPNPEP2_ENST00000371105.3_Silent_p.I82I	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	82						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.I82I(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						ACGAGTACATCGGCCAACATG	0.488																																						uc004eut.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(244-246)ATC>ATA		X-prolyl aminopeptidase 2, membrane-bound							270.0	173.0	206.0					X																	128879190		2203	4300	6503	SO:0001819	synonymous_variant	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128879190C>A	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.246C>A	X.37:g.128879190C>A						XPNPEP2_uc011mum.1_Silent_p.I82I	p.I82I	NM_003399	NP_003390	O43895	XPP2_HUMAN			4	490	+			82					A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	c.246C>A	CCDS14613.1																																																																																				PASS	0.488	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		35	12	35	12	---	---	---	---
FRMD7	90167	broad.mit.edu	37	X	131218580	131218580	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:131218580T>C	ENST00000298542.4	-	8	854	c.679A>G	c.(679-681)Aaa>Gaa	p.K227E	FRMD7_ENST00000464296.1_Missense_Mutation_p.K212E|FRMD7_ENST00000370879.1_Missense_Mutation_p.K107E	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	227	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.K227E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTGCGGATTTTAGCCCAGTTA	0.333																																						uc004ewn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(679-681)AAA>GAA		FERM domain containing 7							102.0	95.0	97.0					X																	131218580		2202	4300	6502	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131218580T>C	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.679A>G	X.37:g.131218580T>C	ENSP00000298542:p.Lys227Glu					FRMD7_uc011muy.1_Missense_Mutation_p.K212E	p.K227E	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			8	857	-	Acute lymphoblastic leukemia(192;0.000127)		227			FERM.		C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.679A>G	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	T	32	5.150993	0.94645	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	T;T;T	0.81330	-1.48;-1.48;-1.48	5.88	5.88	0.94601	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.050736	0.85682	D	0.000000	D	0.89273	0.6668	M	0.81341	2.54	0.58432	D	0.999999	D;D	0.69078	0.997;0.997	P;D	0.67725	0.894;0.953	D	0.90671	0.4598	10	0.87932	D	0	.	14.2923	0.66286	0.0:0.0:0.0:1.0	.	212;227	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	E	107;227;212	ENSP00000359916:K107E;ENSP00000298542:K227E;ENSP00000417996:K212E	ENSP00000298542:K227E	K	-	1	0	FRMD7	131046261	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	1.973000	0.57446	0.486000	0.48141	AAA		PASS	0.333	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		70	21	70	21	---	---	---	---
FMR1NB	158521	broad.mit.edu	37	X	147063148	147063148	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:147063148A>G	ENST00000370467.3	+	1	300	c.226A>G	c.(226-228)Att>Gtt	p.I76V		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	76						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)		p.I76V(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CATGCTCTCCATTTGGATCCT	0.597																																						uc004fcm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(226-228)ATT>GTT		fragile X mental retardation 1 neighbor							142.0	133.0	136.0					X																	147063148		2203	4300	6503	SO:0001583	missense	158521					integral to membrane		g.chrX:147063148A>G		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.226A>G	X.37:g.147063148A>G	ENSP00000359498:p.Ile76Val						p.I76V	NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN			1	300	+	Acute lymphoblastic leukemia(192;6.56e-05)		76			Helical; (Potential).		D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	c.226A>G	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	A	6.905	0.536621	0.13188	.	.	ENSG00000176988	ENST00000370467	T	0.46819	0.86	1.98	-3.96	0.04106	.	.	.	.	.	T	0.22003	0.0530	N	0.14661	0.345	0.09310	N	1	B	0.23540	0.087	B	0.20184	0.028	T	0.07654	-1.0761	9	0.38643	T	0.18	-0.9492	0.678	0.00870	0.2227:0.3276:0.1337:0.316	.	76	Q8N0W7	FMR1N_HUMAN	V	76	ENSP00000359498:I76V	ENSP00000359498:I76V	I	+	1	0	FMR1NB	146870840	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-4.240000	0.00268	-2.350000	0.00617	0.483000	0.47432	ATT		PASS	0.597	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		98	24	98	24	---	---	---	---
NEGR1	257194	broad.mit.edu	37	1	71873131	71873132	+	Stop_Codon_Ins	INS	-	-	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr1:71873131_71873132insT	ENST00000357731.5	-	0	1301_1302				ZRANB2-AS2_ENST00000585415.1_RNA|ZRANB2-AS2_ENST00000587306.1_RNA|ZRANB2-AS2_ENST00000586006.1_RNA|ZRANB2-AS2_ENST00000608579.1_RNA|NEGR1_ENST00000306821.3_Stop_Codon_Ins|NEGR1_ENST00000434200.1_Stop_Codon_Ins|ZRANB2-AS2_ENST00000587066.1_RNA|ZRANB2-AS2_ENST00000585499.1_RNA|ZRANB2-AS2_ENST00000430605.1_RNA|ZRANB2-AS2_ENST00000590186.1_RNA	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1						feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CTTTGAATTTATTGTAGAATGG	0.421																																						uc001dfw.2																			0				ovary(1)	1						c.(1060-1065)CAATAAfs		neuronal growth regulator 1 precursor																																				SO:0001567	stop_retained_variant	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:71873131_71873132insT	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.1063dupA	1.37:g.71873133_71873133dupT	ENSP00000350364:p.*355Ileext*13					NEGR1_uc001dfv.2_Frame_Shift_Ins_p.Q226fs|NEGR1_uc010oqs.1_Frame_Shift_Ins_p.Q310fs	p.Q354fs	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	7	1162_1163	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	354_355					Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Frame_Shift_Ins	INS	ENST00000357731.5	37	c.1062_1063insA	CCDS661.1																																																																																					0.421	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		13	25	13	25	---	---	---	---
SUMO1	7341	broad.mit.edu	37	2	203084829	203084829	+	Splice_Site	DEL	C	C	-			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr2:203084829delC	ENST00000392246.2	-	2	169	c.13delG	c.(13-15)gag>ag	p.E5fs	SUMO1_ENST00000392244.3_Intron|SUMO1_ENST00000409368.1_Splice_Site_p.E5fs|SUMO1_ENST00000392245.1_Splice_Site_p.E5fs|SUMO1_ENST00000409205.1_5'UTR|SUMO1_ENST00000409712.1_Splice_Site_p.E5fs|SUMO1_ENST00000409181.1_Splice_Site_p.E5fs|SUMO1_ENST00000409498.2_5'UTR|SUMO1_ENST00000469034.1_5'UTR	NM_003352.4	NP_003343.1	P63165	SUMO1_HUMAN	small ubiquitin-like modifier 1	5					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|DNA repair (GO:0006281)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of DNA binding (GO:0043392)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|PML body organization (GO:0030578)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein complex assembly (GO:0031334)|post-translational protein modification (GO:0043687)|protein localization to nuclear pore (GO:0090204)|protein sumoylation (GO:0016925)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein localization (GO:0032880)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)										GGTTTTGCCTCCTGAAAGAAA	0.338																																						uc002uyz.1																			0					0						c.(13-15)GAGfs		SMT3 suppressor of mif two 3 homolog 1 isoform a							102.0	112.0	109.0					2																	203084829		2203	4299	6502	SO:0001630	splice_region_variant	7341				DNA repair|interferon-gamma-mediated signaling pathway|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|palate development|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein complex assembly|protein sumoylation|regulation of interferon-gamma-mediated signaling pathway|regulation of protein localization	cytoplasm|nuclear membrane|nuclear pore|nuclear speck	ubiquitin protein ligase binding	g.chr2:203084829delC	U38784	CCDS2352.1, CCDS46493.1	2q33	2013-06-05	2013-06-05	2004-05-19	ENSG00000116030	ENSG00000116030			12502	protein-coding gene	gene with protein product		601912	"""ubiquitin-like 1 (sentrin)"", ""SMT3 suppressor of mif two 3 homolog 1 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)"""	UBL1		8812453, 8906799	Standard	NM_003352		Approved	PIC1, GMP1, SMT3C, SUMO-1, SMT3H3, OFC10	uc002uyz.1	P63165	OTTHUMG00000132839	ENST00000392246.2:c.13-1G>-	2.37:g.203084829delC						SUMO1_uc002uza.1_Intron	p.E5fs	NM_001005781	NP_001005781	P63165	SUMO1_HUMAN			2	161	-			5					A8MUS8|B2R4I5|P55856|Q6FGG0|Q6NZ62|Q93068	Frame_Shift_Del	DEL	ENST00000392246.2	37	c.13delG	CCDS2352.1																																																																																					0.338	SUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256312.2	NM_003352	Frame_Shift_Del	127	130	127	130	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11364830	11364831	+	Frame_Shift_Del	DEL	GG	GG	-	rs138883759		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr5:11364830_11364831delGG	ENST00000304623.8	-	8	1538_1539	c.1349_1350delCC	c.(1348-1350)accfs	p.T450fs	CTNND2_ENST00000458100.2_Frame_Shift_Del_p.T17fs|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Frame_Shift_Del_p.T359fs|CTNND2_ENST00000359640.2_Frame_Shift_Del_p.T450fs|CTNND2_ENST00000503622.1_Frame_Shift_Del_p.T113fs	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	450					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTAGGTGCCGGTGTGTGCTGG	0.604																																						uc003jfa.1																			0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1348-1350)ACCfs		catenin (cadherin-associated protein), delta 2																																				SO:0001589	frameshift_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11364830_11364831delGG	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1349_1350delCC	5.37:g.11364830_11364831delGG	ENSP00000307134:p.Thr450fs					CTNND2_uc010itt.2_Frame_Shift_Del_p.T359fs|CTNND2_uc011cmy.1_Frame_Shift_Del_p.T113fs|CTNND2_uc011cmz.1_Frame_Shift_Del_p.T17fs|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Frame_Shift_Del_p.T17fs	p.T450fs	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			8	1494_1495	-			450					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Frame_Shift_Del	DEL	ENST00000304623.8	37	c.1349_1350delCC	CCDS3881.1																																																																																					0.604	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		23	12	23	12	---	---	---	---
POM121L12	285877	broad.mit.edu	37	7	53103652	53103653	+	Frame_Shift_Ins	INS	-	-	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr7:53103652_53103653insT	ENST00000408890.4	+	1	304_305	c.288_289insT	c.(289-291)tggfs	p.W97fs		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	97								p.G96G(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCTCCGAGGGCTGGAGGCGCCC	0.708																																						uc003tpz.2																			1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)		0						c.(286-291)GGCTGGfs		POM121 membrane glycoprotein-like 12																																				SO:0001589	frameshift_variant	285877							g.chr7:53103652_53103653insT		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.289dupT	7.37:g.53103653_53103653dupT	ENSP00000386133:p.Trp97fs						p.G96fs	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	304_305	+			96_97					Q8NDI9	Frame_Shift_Ins	INS	ENST00000408890.4	37	c.288_289insT	CCDS43584.1																																																																																					0.708	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		15	54	15	54	---	---	---	---
PARD3	56288	broad.mit.edu	37	10	34666941	34666942	+	Frame_Shift_Ins	INS	-	-	C			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr10:34666941_34666942insC	ENST00000374789.3	-	10	1817_1818	c.1492_1493insG	c.(1492-1494)gcgfs	p.A498fs	PARD3_ENST00000374773.1_Frame_Shift_Ins_p.A498fs|PARD3_ENST00000374788.3_Frame_Shift_Ins_p.A498fs|PARD3_ENST00000346874.4_Frame_Shift_Ins_p.A498fs|PARD3_ENST00000350537.4_Frame_Shift_Ins_p.A498fs|PARD3_ENST00000374794.3_Frame_Shift_Ins_p.A454fs|PARD3_ENST00000545693.1_Frame_Shift_Ins_p.A498fs|PARD3_ENST00000340077.5_Frame_Shift_Ins_p.A498fs|PARD3_ENST00000545260.1_Frame_Shift_Ins_p.A454fs|PARD3_ENST00000544292.1_Frame_Shift_Ins_p.A228fs|PARD3_ENST00000374790.3_Frame_Shift_Ins_p.A454fs|PARD3_ENST00000374776.1_Frame_Shift_Ins_p.A498fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	498	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTGAATGGCCGCCCCCCGGGGG	0.48																																						uc010qej.1																			0				ovary(1)	1						c.(1492-1494)GCGfs		partitioning-defective protein 3 homolog																																				SO:0001589	frameshift_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34666941_34666942insC	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1493dupG	10.37:g.34666947_34666947dupC	ENSP00000363921:p.Ala498fs					PARD3_uc010qek.1_Frame_Shift_Ins_p.A498fs|PARD3_uc010qel.1_Frame_Shift_Ins_p.A498fs|PARD3_uc010qem.1_Frame_Shift_Ins_p.A498fs|PARD3_uc010qen.1_Frame_Shift_Ins_p.A498fs|PARD3_uc010qeo.1_Frame_Shift_Ins_p.A498fs|PARD3_uc010qep.1_Frame_Shift_Ins_p.A454fs|PARD3_uc010qeq.1_Frame_Shift_Ins_p.A454fs|PARD3_uc001ixo.1_Frame_Shift_Ins_p.A228fs|PARD3_uc001ixp.1_Frame_Shift_Ins_p.A363fs|PARD3_uc001ixq.1_Frame_Shift_Ins_p.A498fs|PARD3_uc001ixr.1_Frame_Shift_Ins_p.A498fs|PARD3_uc001ixt.1_Frame_Shift_Ins_p.A319fs|PARD3_uc001ixu.1_Frame_Shift_Ins_p.A454fs|PARD3_uc001ixs.1_Frame_Shift_Ins_p.A151fs	p.A498fs	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			10	1492_1493	-		Breast(68;0.0707)	498			PDZ 2.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Frame_Shift_Ins	INS	ENST00000374789.3	37	c.1492_1493insG	CCDS7178.1																																																																																					0.480	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		70	134	70	134	---	---	---	---
OR5B3	441608	broad.mit.edu	37	11	58170130	58170130	+	Frame_Shift_Del	DEL	C	C	-			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:58170130delC	ENST00000309403.2	-	1	752	c.753delG	c.(751-753)gggfs	p.G251fs		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGATAATAGTCCCATAGAAGA	0.448																																						uc010rkf.1																			0					0						c.(751-753)GGGfs		olfactory receptor, family 5, subfamily B,							91.0	91.0	91.0					11																	58170130		2201	4295	6496	SO:0001589	frameshift_variant	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170130delC	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.753delG	11.37:g.58170130delC	ENSP00000308270:p.Gly251fs						p.G251fs	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			1	753	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	251			Helical; Name=6; (Potential).		Q6IEV6	Frame_Shift_Del	DEL	ENST00000309403.2	37	c.753delG	CCDS31549.1																																																																																					0.448	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		93	47	93	47	---	---	---	---
PICALM	8301	broad.mit.edu	37	11	85692259	85692259	+	Frame_Shift_Del	DEL	C	C	-			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr11:85692259delC	ENST00000393346.3	-	17	1840	c.1692delG	c.(1690-1692)tggfs	p.W564fs	PICALM_ENST00000528398.1_Frame_Shift_Del_p.W463fs|PICALM_ENST00000532317.1_Frame_Shift_Del_p.W514fs|PICALM_ENST00000526033.1_Frame_Shift_Del_p.W557fs|PICALM_ENST00000356360.5_Frame_Shift_Del_p.W564fs			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	564					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CTGGTTGACTCCAATTTACAT	0.343			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	uc001pbm.2				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	MLLT10|MLL		TALL|AML|		0				urinary_tract(1)|ovary(1)	2						c.(1690-1692)TGGfs		phosphatidylinositol-binding clathrin assembly							128.0	118.0	122.0					11																	85692259		2203	4299	6502	SO:0001589	frameshift_variant	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85692259delC	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1692delG	11.37:g.85692259delC	ENSP00000377015:p.Trp564fs					PICALM_uc001pbl.2_Frame_Shift_Del_p.W514fs|PICALM_uc001pbn.2_Frame_Shift_Del_p.W557fs|PICALM_uc010rtl.1_Frame_Shift_Del_p.W463fs|PICALM_uc001pbk.2_RNA|PICALM_uc010rtk.1_Frame_Shift_Del_p.W141fs|PICALM_uc001pbo.1_Frame_Shift_Del_p.W196fs	p.W564fs	NM_007166	NP_009097	Q13492	PICAL_HUMAN			17	1978	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	564					B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Frame_Shift_Del	DEL	ENST00000393346.3	37	c.1692delG	CCDS8272.1																																																																																					0.343	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		40	27	40	27	---	---	---	---
OR4K17	390436	broad.mit.edu	37	14	20585592	20585592	+	Frame_Shift_Del	DEL	C	C	-			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr14:20585592delC	ENST00000315543.4	+	1	27	c.27delC	c.(25-27)ctcfs	p.L9fs		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CACTCATACTCCATGGTATGA	0.363																																						uc001vwo.1																			0				skin(3)	3						c.(25-27)CTCfs		olfactory receptor, family 4, subfamily K,							91.0	84.0	86.0					14																	20585592		2203	4300	6503	SO:0001589	frameshift_variant	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20585592delC		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.27delC	14.37:g.20585592delC	ENSP00000319197:p.Leu9fs						p.L9fs	NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	27	+	all_cancers(95;0.00108)		Error:Variant_position_missing_in_Q8NGC6_after_alignment					Q6IF12	Frame_Shift_Del	DEL	ENST00000315543.4	37	c.27delC	CCDS32030.1																																																																																					0.363	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			52	45	52	45	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	62945428	62945428	+	Frame_Shift_Del	DEL	G	G	-	rs367916448		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:62945428delG	ENST00000561311.1	+	6	662	c.432delG	c.(430-432)acgfs	p.T144fs	TLN2_ENST00000306829.6_Frame_Shift_Del_p.T144fs			Q9Y4G6	TLN2_HUMAN	talin 2	144	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGGAAGGAACGGGCACACTCA	0.363																																						uc002alb.3																			0				ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(430-432)ACGfs		talin 2							101.0	85.0	90.0					15																	62945428		2203	4300	6503	SO:0001589	frameshift_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62945428delG	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.432delG	15.37:g.62945428delG	ENSP00000453508:p.Thr144fs						p.T144fs	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			4	432	+			144			FERM.		A6NLB8	Frame_Shift_Del	DEL	ENST00000561311.1	37	c.432delG	CCDS32261.1																																																																																					0.363	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			23	18	23	18	---	---	---	---
SIN3A	25942	broad.mit.edu	37	15	75704038	75704038	+	Frame_Shift_Del	DEL	G	G	-	rs371634411		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr15:75704038delG	ENST00000394947.3	-	6	1117	c.803delC	c.(802-804)ccafs	p.P268fs	SIN3A_ENST00000394949.4_Frame_Shift_Del_p.P268fs|SIN3A_ENST00000360439.4_Frame_Shift_Del_p.P268fs	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CGGTGGAAGTGGGGGAGTCTG	0.512																																						uc002bai.2																			0				skin(3)|ovary(1)|lung(1)	5						c.(802-804)CCAfs		transcriptional co-repressor Sin3A							155.0	149.0	151.0					15																	75704038		2197	4294	6491	SO:0001589	frameshift_variant	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75704038delG	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.803delC	15.37:g.75704038delG	ENSP00000378402:p.Pro268fs					SIN3A_uc002baj.2_Frame_Shift_Del_p.P268fs|SIN3A_uc010uml.1_Frame_Shift_Del_p.P268fs	p.P268fs	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			6	1062	-			268			Interaction with REST (By similarity).			Frame_Shift_Del	DEL	ENST00000394947.3	37	c.803delC	CCDS10279.1																																																																																					0.512	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		209	124	209	124	---	---	---	---
TMEM38A	79041	broad.mit.edu	37	19	16799109	16799117	+	In_Frame_Del	DEL	CGGCCATGC	CGGCCATGC	-	rs142098397|rs147713228		TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:16799109_16799117delCGGCCATGC	ENST00000187762.2	+	6	918_926	c.827_835delCGGCCATGC	c.(826-837)tcggccatgccc>tcc	p.AMP277del		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	277						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.S276S(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						GCTCAGCATTCGGCCATGCCCGCCAAGTC	0.651																																						uc002nes.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(826-837)TCGGCCATGCCC>TCC		transmembrane protein 38A																																				SO:0001651	inframe_deletion	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16799109_16799117delCGGCCATGC	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.827_835delCGGCCATGC	19.37:g.16799109_16799117delCGGCCATGC	ENSP00000187762:p.Ala277_Pro279del						p.AMP277del	NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN			6	918_926	+			277_279			Cytoplasmic (Potential).		A8K9P9	In_Frame_Del	DEL	ENST00000187762.2	37	c.827_835delCGGCCATGC	CCDS12349.1																																																																																					0.651	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		81	63	81	63	---	---	---	---
LILRA4	23547	broad.mit.edu	37	19	54849937	54849938	+	Frame_Shift_Ins	INS	-	-	T			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr19:54849937_54849938insT	ENST00000291759.4	-	3	140_141	c.84_85insA	c.(82-87)aaacccfs	p.P29fs	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	29	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CACAGGATGGGTTTGGGTAGGT	0.589											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002qfj.2																			0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(82-87)AAACCCfs		leukocyte immunoglobulin-like receptor subfamily																																				SO:0001589	frameshift_variant	23547					integral to membrane	receptor activity	g.chr19:54849937_54849938insT	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.85dupA	19.37:g.54849940_54849940dupT	ENSP00000291759:p.Pro29fs		OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1003	LILRA4_uc002qfi.2_5'UTR	p.K28fs	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	3	141_142	-	Ovarian(34;0.19)		28_29			Ig-like C2-type 1.|Extracellular (Potential).		Q32MC4	Frame_Shift_Ins	INS	ENST00000291759.4	37	c.84_85insA	CCDS12890.1																																																																																					0.589	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		70	34	70	34	---	---	---	---
TTC3	7267	broad.mit.edu	37	21	38519833	38519833	+	Frame_Shift_Del	DEL	C	C	-			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr21:38519833delC	ENST00000399017.2	+	22	4693	c.1946delC	c.(1945-1947)gccfs	p.A649fs	TTC3_ENST00000540756.1_Frame_Shift_Del_p.A339fs|TTC3_ENST00000355666.1_Frame_Shift_Del_p.A649fs|TTC3_ENST00000354749.2_Frame_Shift_Del_p.A649fs|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	649					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GTGCCAGATGCCATTTGTTGC	0.343																																					Ovarian(38;194 1649 35661)	uc002yvz.2																			0				skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(1945-1947)GCCfs		tetratricopeptide repeat domain 3							121.0	117.0	118.0					21																	38519833		2203	4300	6503	SO:0001589	frameshift_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38519833delC	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1946delC	21.37:g.38519833delC	ENSP00000381981:p.Ala649fs					TTC3_uc011aee.1_Frame_Shift_Del_p.A339fs|TTC3_uc002ywa.2_Frame_Shift_Del_p.A649fs|TTC3_uc002ywb.2_Frame_Shift_Del_p.A649fs|TTC3_uc010gnf.2_Frame_Shift_Del_p.A414fs|TTC3_uc002ywc.2_Frame_Shift_Del_p.A339fs|TTC3_uc011aed.1_Frame_Shift_Del_p.A339fs	p.A649fs	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			22	2051	+		Myeloproliferative disorder(46;0.0412)	649					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Frame_Shift_Del	DEL	ENST00000399017.2	37	c.1946delC	CCDS13651.1																																																																																					0.343	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			77	56	77	56	---	---	---	---
PLA2G3	50487	broad.mit.edu	37	22	31536282	31536282	+	Frame_Shift_Del	DEL	C	C	-			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chr22:31536282delC	ENST00000215885.3	-	1	311	c.59delG	c.(58-60)ggcfs	p.G20fs		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	20					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GGCAGGGGAGCCCCCCAGGGC	0.657																																						uc003aka.2																			0					0						c.(58-60)GGCfs		phospholipase A2, group III precursor							31.0	36.0	34.0					22																	31536282		2200	4296	6496	SO:0001589	frameshift_variant	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31536282delC	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.59delG	22.37:g.31536282delC	ENSP00000215885:p.Gly20fs						p.G20fs	NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN			1	188	-			20					O95768	Frame_Shift_Del	DEL	ENST00000215885.3	37	c.59delG	CCDS13889.1																																																																																					0.657	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		60	39	60	39	---	---	---	---
DACH2	117154	broad.mit.edu	37	X	85769298	85769298	+	Frame_Shift_Del	DEL	C	C	-			TCGA-34-5231-01A-21D-1817-08	TCGA-34-5231-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9862ed2-4ba6-434d-a205-b1bda292d218	84be8437-4a30-4730-af92-4ba428be4dc1	g.chrX:85769298delC	ENST00000373125.4	+	3	544	c.544delC	c.(544-546)cccfs	p.P183fs	DACH2_ENST00000373131.1_Frame_Shift_Del_p.P170fs|DACH2_ENST00000508860.1_Frame_Shift_Del_p.P16fs|DACH2_ENST00000510272.1_5'UTR	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	183					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ACCCGGCAGGCCCCCTAAGCG	0.438																																						uc004eew.2																			0				ovary(4)|pancreas(1)	5						c.(544-546)CCCfs		dachshund 2 isoform a							38.0	34.0	35.0					X																	85769298		2203	4300	6503	SO:0001589	frameshift_variant	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85769298delC	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.544delC	X.37:g.85769298delC	ENSP00000362217:p.Pro183fs					DACH2_uc004eex.2_Frame_Shift_Del_p.P169fs|DACH2_uc010nmq.2_Frame_Shift_Del_p.P48fs|DACH2_uc011mra.1_Frame_Shift_Del_p.P15fs|DACH2_uc010nmr.2_5'UTR	p.P182fs	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			3	714	+			182					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Frame_Shift_Del	DEL	ENST00000373125.4	37	c.544delC	CCDS14455.1																																																																																					0.438	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		9	16	9	16	---	---	---	---
