#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
PRAMEF1	65121	broad.mit.edu	37	1	12853509	12853509	+	Missense_Mutation	SNP	A	A	C	rs148996974		TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr1:12853509A>C	ENST00000332296.7	+	2	236	c.133A>C	c.(133-135)Agc>Cgc	p.S45R	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	45					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.S45R(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGCCTTCAGCAGGAGACA	0.587																																						uc001auj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(133-135)AGC>CGC		PRAME family member 1							114.0	118.0	117.0					1																	12853509		2203	4298	6501	SO:0001583	missense	65121							g.chr1:12853509A>C	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.133A>C	1.37:g.12853509A>C	ENSP00000332134:p.Ser45Arg						p.S45R	NM_023013	NP_075389	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	236	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	45					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.133A>C	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	2.164	-0.391486	0.04932	.	.	ENSG00000116721	ENST00000332296	T	0.04862	3.54	1.43	-2.65	0.06095	.	1.895630	0.02987	N	0.146375	T	0.06371	0.0164	L	0.52266	1.64	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.37126	-0.9719	10	0.24483	T	0.36	.	2.2047	0.03933	0.3062:0.0:0.4062:0.2876	.	45	O95521	PRAM1_HUMAN	R	45	ENSP00000332134:S45R	ENSP00000332134:S45R	S	+	1	0	PRAMEF1	12776096	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.431000	0.01023	-0.798000	0.04444	0.333000	0.21579	AGC		PASS	0.587	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		4	125	4	125	---	---	---	---
DDI2	84301	broad.mit.edu	37	1	15956822	15956822	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr1:15956822T>G	ENST00000480945.1	+	3	442	c.271T>G	c.(271-273)Tta>Gta	p.L91V		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	91							aspartic-type endopeptidase activity (GO:0004190)	p.L91V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CCCAACAGACTTACCCCGAAT	0.463																																						uc001awx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)TTA>GTA		DNA-damage inducible protein 2							86.0	90.0	89.0					1																	15956822		2203	4300	6503	SO:0001583	missense	84301				proteolysis		aspartic-type endopeptidase activity	g.chr1:15956822T>G		CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.271T>G	1.37:g.15956822T>G	ENSP00000417748:p.Leu91Val					DDI2_uc001aww.2_Missense_Mutation_p.L91V|DDI2_uc009voj.1_5'UTR	p.L91V	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	3	367	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	91					A8KAE1|Q7RTZ0|Q9BRT1	Missense_Mutation	SNP	ENST00000480945.1	37	c.271T>G	CCDS30607.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.534716	0.45073	.	.	ENSG00000197312	ENST00000480945	T	0.24538	1.85	5.61	3.28	0.37604	.	0.000000	0.64402	U	0.000006	T	0.16938	0.0407	L	0.47716	1.5	0.48452	D	0.999654	B	0.28439	0.212	B	0.27380	0.079	T	0.05178	-1.0901	10	0.12103	T	0.63	-13.0458	4.3978	0.11372	0.0:0.3699:0.0:0.6301	.	91	Q5TDH0	DDI2_HUMAN	V	91	ENSP00000417748:L91V	ENSP00000417748:L91V	L	+	1	2	DDI2	15829409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.537000	0.45702	0.972000	0.38314	0.491000	0.48974	TTA		PASS	0.463	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341		19	82	19	82	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39797858	39797858	+	Silent	SNP	A	A	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr1:39797858A>G	ENST00000372915.3	+	36	5700	c.5613A>G	c.(5611-5613)ctA>ctG	p.L1871L	MACF1_ENST00000564288.1_Silent_p.L1866L|MACF1_ENST00000567887.1_Silent_p.L1903L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Silent_p.L306L|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1871					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L306L(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGATGCCCTAGAACAAGGTA	0.458																																						uc010oiu.1																			1	Substitution - coding silent(1)	p.L306V(1)	lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(916-918)CTA>CTG		microfilament and actin filament cross-linker							103.0	104.0	104.0					1																	39797858		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39797858A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.5613A>G	1.37:g.39797858A>G						MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.L306L	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1049	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1871			Plectin 5.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.918A>G																																																																																					PASS	0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		42	30	42	30	---	---	---	---
MFSD2A	84879	broad.mit.edu	37	1	40420981	40420981	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr1:40420981G>T	ENST00000372809.5	+	1	160	c.17G>T	c.(16-18)gGc>gTc	p.G6V	MFSD2A_ENST00000420632.2_5'UTR|MFSD2A_ENST00000372811.5_Missense_Mutation_p.G6V	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	6					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)	p.G6V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AAAGGAGAAGGCGCCGAGAGC	0.716																																						uc001cev.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(16-18)GGC>GTC		major facilitator superfamily domain containing							11.0	16.0	14.0					1																	40420981		2179	4278	6457	SO:0001583	missense	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40420981G>T	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.17G>T	1.37:g.40420981G>T	ENSP00000361895:p.Gly6Val					MFSD2A_uc010ojb.1_Missense_Mutation_p.G6V|MFSD2A_uc001ceu.2_Missense_Mutation_p.G6V|MFSD2A_uc010ojc.1_5'UTR|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cew.1_Missense_Mutation_p.G6V	p.G6V	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN			1	198	+			6					A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	c.17G>T	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607815	0.66558	.	.	ENSG00000168389	ENST00000372811;ENST00000434861;ENST00000372809	.	.	.	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.998	T	0.67237	-0.5721	9	0.72032	D	0.01	-16.3939	12.5244	0.56077	0.0:0.0:1.0:0.0	.	6;6;6	B4DNN7;Q8NA29;Q8NA29-2	.;MFS2A_HUMAN;.	V	6	.	ENSP00000361895:G6V	G	+	2	0	MFSD2A	40193568	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.206000	0.65192	2.332000	0.79248	0.561000	0.74099	GGC		PASS	0.716	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		6	4	6	4	---	---	---	---
TIE1	7075	broad.mit.edu	37	1	43774787	43774787	+	Silent	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr1:43774787C>T	ENST00000372476.3	+	8	1252	c.1173C>T	c.(1171-1173)gaC>gaT	p.D391D	TIE1_ENST00000441333.2_Intron|TIE1_ENST00000433781.2_Silent_p.D36D	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	391	Ig-like C2-type 2.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D391D(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCAAGCCAGACGGCACTGTGC	0.617																																						uc001ciu.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(1171-1173)GAC>GAT		tyrosine kinase with immunoglobulin-like and							47.0	48.0	48.0					1																	43774787		2203	4300	6503	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43774787C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1173C>T	1.37:g.43774787C>T						TIE1_uc010okd.1_Silent_p.D391D|TIE1_uc010oke.1_Silent_p.D346D|TIE1_uc009vwq.2_Silent_p.D347D|TIE1_uc010okf.1_Silent_p.D36D|TIE1_uc010okg.1_Silent_p.D36D|TIE1_uc010okc.1_Intron	p.D391D	NM_005424	NP_005415	P35590	TIE1_HUMAN			8	1252	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	391			Ig-like C2-type 2.|Extracellular (Potential).		B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.1173C>T	CCDS482.1																																																																																				PASS	0.617	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		16	9	16	9	---	---	---	---
EVI5	7813	broad.mit.edu	37	1	93091411	93091411	+	Missense_Mutation	SNP	T	T	G	rs137964507		TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr1:93091411T>G	ENST00000370331.1	-	13	1569	c.1560A>C	c.(1558-1560)gaA>gaC	p.E520D	EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000543509.1_Missense_Mutation_p.E531D|EVI5_ENST00000540033.1_Missense_Mutation_p.E520D	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	520	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.E520D(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CCATAATGGCTTCTGCTTCTC	0.348																																						uc001dox.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1558-1560)GAA>GAC		ecotropic viral integration site 5							133.0	130.0	131.0					1																	93091411		2202	4299	6501	SO:0001583	missense	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93091411T>G	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1560A>C	1.37:g.93091411T>G	ENSP00000359356:p.Glu520Asp					EVI5_uc010otf.1_Missense_Mutation_p.E531D|EVI5_uc001doy.1_RNA	p.E520D	NM_005665	NP_005656	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	13	1570	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	520			Targeting to the centrosomes.|Potential.|Dimerization.|Interaction with AURKB and INCENP.		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	c.1560A>C	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.590587	0.66219	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509;ENST00000338689	T;T;T	0.45668	0.89;0.89;0.89	5.6	0.642	0.17765	.	0.000000	0.85682	D	0.000000	T	0.47967	0.1474	M	0.85630	2.765	0.43214	D	0.99508	D;D	0.64830	0.994;0.98	P;P	0.61477	0.889;0.777	T	0.51779	-0.8662	10	0.49607	T	0.09	-16.4974	9.4056	0.38460	0.0:0.2707:0.0:0.7293	.	531;520	F5H4R0;O60447	.;EVI5_HUMAN	D	520;520;531;219	ENSP00000359356:E520D;ENSP00000440826:E520D;ENSP00000445019:E531D	ENSP00000345500:E219D	E	-	3	2	EVI5	92863999	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	1.200000	0.32247	-0.128000	0.11641	-0.334000	0.08254	GAA		PASS	0.348	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		23	77	23	77	---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162335234	162335234	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr1:162335234C>G	ENST00000361897.5	+	9	1382	c.980C>G	c.(979-981)gCg>gGg	p.A327G	RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.A13G|NOS1AP_ENST00000493151.1_Missense_Mutation_p.A32G|NOS1AP_ENST00000530878.1_Missense_Mutation_p.A322G	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	327					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)	p.A327G(2)|p.A32G(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GAGGCTGCGGCGCGGCTGGAG	0.587																																						uc001gbv.2																			3	Substitution - Missense(3)		lung(3)	lung(2)|upper_aerodigestive_tract(1)	3						c.(979-981)GCG>GGG		nitric oxide synthase 1 (neuronal) adaptor							61.0	60.0	60.0					1																	162335234		2203	4300	6503	SO:0001583	missense	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162335234C>G	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.980C>G	1.37:g.162335234C>G	ENSP00000355133:p.Ala327Gly					NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Missense_Mutation_p.A322G|NOS1AP_uc009wut.1_Missense_Mutation_p.A32G	p.A327G	NM_014697	NP_055512	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		9	1367	+	all_hematologic(112;0.203)		327			Potential.		B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	c.980C>G	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089775	0.55968	.	.	ENSG00000198929;ENSG00000198929;ENSG00000198929;ENSG00000254706	ENST00000530878;ENST00000361897;ENST00000493151;ENST00000431696	D;D	0.90069	-2.6;-2.61	5.62	3.65	0.41850	.	0.145376	0.64402	D	0.000008	T	0.71779	0.3380	L	0.39245	1.2	.	.	.	B;B;P	0.38677	0.003;0.135;0.642	B;B;B	0.30179	0.02;0.069;0.112	T	0.73487	-0.3967	9	0.56958	D	0.05	.	9.8053	0.40789	0.0:0.7822:0.1405:0.0772	.	32;322;327	Q3T551;B7ZLF5;O75052	.;.;CAPON_HUMAN	G	322;327;32;13	ENSP00000431586:A322G;ENSP00000355133:A327G	ENSP00000355133:A327G	A	+	2	0	NOS1AP;RP11-565P22.6	160601858	1.000000	0.71417	0.159000	0.22649	0.719000	0.41307	5.538000	0.67193	1.377000	0.46286	0.655000	0.94253	GCG		PASS	0.587	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		17	60	17	60	---	---	---	---
GLUL	2752	broad.mit.edu	37	1	182353685	182353685	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr1:182353685G>C	ENST00000331872.6	-	7	1517	c.977C>G	c.(976-978)cCc>cGc	p.P326R	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000339526.4_Missense_Mutation_p.P326R|GLUL_ENST00000311223.5_Missense_Mutation_p.P326R|GLUL_ENST00000417584.2_Missense_Mutation_p.P326R	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	326					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.P326R(1)		endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	AACAGTCCGGGGAATGCGTAT	0.552																																						uc001gpa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(976-978)CCC>CGC		glutamine synthetase	Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)						98.0	89.0	92.0					1																	182353685		2203	4300	6503	SO:0001583	missense	2752				cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding	g.chr1:182353685G>C	AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.977C>G	1.37:g.182353685G>C	ENSP00000356537:p.Pro326Arg					GLUL_uc010pnt.1_Missense_Mutation_p.P113R|GLUL_uc001gpb.1_Missense_Mutation_p.P326R|GLUL_uc001gpc.1_Missense_Mutation_p.P326R|GLUL_uc001gpd.1_Missense_Mutation_p.P326R	p.P326R	NM_001033056	NP_001028228	P15104	GLNA_HUMAN			7	1189	-			326					Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP	ENST00000331872.6	37	c.977C>G	CCDS1344.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010632	0.93346	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	5.34	5.34	0.76211	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97328	0.9126	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98740	1.0716	10	0.72032	D	0.01	-21.4375	17.5747	0.87946	0.0:0.0:1.0:0.0	.	326	P15104	GLNA_HUMAN	R	326	ENSP00000356537:P326R;ENSP00000307900:P326R;ENSP00000398320:P326R;ENSP00000344958:P326R	ENSP00000307900:P326R	P	-	2	0	GLUL	180620308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.207000	0.95064	2.488000	0.83962	0.563000	0.77884	CCC		PASS	0.552	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065		8	34	8	34	---	---	---	---
SHCBP1L	81626	broad.mit.edu	37	1	182909662	182909662	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr1:182909662T>C	ENST00000367547.3	-	3	808	c.572A>G	c.(571-573)tAc>tGc	p.Y191C	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.Y72C	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	263								p.Y191C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TGAGTCTTGGTATGGTTCACA	0.333																																						uc001gpu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(571-573)TAC>TGC		chromosome 1 open reading frame 14							45.0	46.0	46.0					1																	182909662		2203	4300	6503	SO:0001583	missense	81626							g.chr1:182909662T>C	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.572A>G	1.37:g.182909662T>C	ENSP00000356518:p.Tyr191Cys					C1orf14_uc001gpv.2_Missense_Mutation_p.Y72C|C1orf14_uc010pnz.1_Missense_Mutation_p.Y49C|C1orf14_uc001gpw.2_Translation_Start_Site	p.Y191C	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN		Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)	3	857	-			263					Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	37	c.572A>G	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	T	2.496	-0.316368	0.05422	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.45276	0.91;0.9	4.53	-2.73	0.05950	.	1.681140	0.03305	N	0.189615	T	0.26774	0.0655	L	0.29908	0.895	0.09310	N	0.999999	B;P	0.39624	0.216;0.681	B;B	0.34385	0.181;0.181	T	0.18241	-1.0343	10	0.46703	T	0.11	6.3719	4.238	0.10635	0.2239:0.2863:0.0:0.4898	.	72;191	Q9BZQ2-2;Q9BZQ2-3	.;.	C	191;260;72	ENSP00000356518:Y191C;ENSP00000397308:Y72C	ENSP00000287709:Y260C	Y	-	2	0	SHCBP1L	181176285	0.000000	0.05858	0.045000	0.18777	0.145000	0.21501	-1.979000	0.01493	-0.554000	0.06150	-0.366000	0.07423	TAC		PASS	0.333	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		26	24	26	24	---	---	---	---
TRMT1L	81627	broad.mit.edu	37	1	185114649	185114649	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr1:185114649T>C	ENST00000367506.5	-	5	845	c.577A>G	c.(577-579)Atc>Gtc	p.I193V	TRMT1L_ENST00000367504.3_Missense_Mutation_p.I37V	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	193					adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)	p.I193V(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTTCTGGTGATTGTTGCTGAA	0.338																																						uc001grf.3																			1	Substitution - Missense(1)		lung(1)		0						c.(577-579)ATC>GTC		N2,N2-dimethylguanosine tRNA							186.0	172.0	177.0					1																	185114649		2203	4300	6503	SO:0001583	missense	81627					intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr1:185114649T>C	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.577A>G	1.37:g.185114649T>C	ENSP00000356476:p.Ile193Val					C1orf25_uc010pon.1_Missense_Mutation_p.I37V	p.I193V	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN			5	849	-			193			C2H2-type.		Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	c.577A>G	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.727046	0.89390	.	.	ENSG00000121486	ENST00000367504;ENST00000367506	.	.	.	5.66	5.66	0.87406	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.68348	0.2991	L	0.40543	1.245	0.49915	D	0.999833	D	0.59357	0.985	D	0.67548	0.952	T	0.71269	-0.4643	9	0.87932	D	0	-14.3048	16.188	0.81967	0.0:0.0:0.0:1.0	.	193	Q7Z2T5	TRM1L_HUMAN	V	37;193	.	ENSP00000356474:I37V	I	-	1	0	TRMT1L	183381272	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.236000	0.78154	2.270000	0.75569	0.533000	0.62120	ATC		PASS	0.338	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		48	111	48	111	---	---	---	---
F13B	2165	broad.mit.edu	37	1	197030140	197030140	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr1:197030140T>G	ENST00000367412.1	-	4	560	c.517A>C	c.(517-519)Aag>Cag	p.K173Q		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	173	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.K173Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ACTTTGTCCTTCACTTTGAAT	0.343																																						uc001gtt.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(517-519)AAG>CAG		coagulation factor XIII B subunit precursor							189.0	172.0	177.0					1																	197030140		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197030140T>G	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.517A>C	1.37:g.197030140T>G	ENSP00000356382:p.Lys173Gln						p.K173Q	NM_001994	NP_001985	P05160	F13B_HUMAN			4	561	-			173			Sushi 3.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.517A>C	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.514060	0.44763	.	.	ENSG00000143278	ENST00000367412	T	0.64618	-0.11	5.88	2.29	0.28610	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.53965	0.1829	L	0.35854	1.095	0.28434	N	0.917109	P	0.38395	0.629	B	0.43575	0.424	T	0.43147	-0.9409	9	0.24483	T	0.36	.	9.6426	0.39848	0.0:0.2:0.0:0.8	.	173	P05160	F13B_HUMAN	Q	173	ENSP00000356382:K173Q	ENSP00000356382:K173Q	K	-	1	0	F13B	195296763	0.822000	0.29219	0.510000	0.27712	0.640000	0.38277	1.045000	0.30341	0.141000	0.18875	0.455000	0.32223	AAG		PASS	0.343	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		14	64	14	64	---	---	---	---
CAMSAP2	23271	broad.mit.edu	37	1	200784772	200784772	+	Splice_Site	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr1:200784772G>A	ENST00000236925.4	+	4	694	c.645G>A	c.(643-645)aaG>aaA	p.K215K	CAMSAP2_ENST00000358823.2_Splice_Site_p.K215K|CAMSAP2_ENST00000413307.2_Splice_Site_p.K215K			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	215	CH.				microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)	p.K215K(1)									GAGGTCAAAAGGTATTTATTT	0.264																																						uc001gvl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(643-645)AAG>AAA		calmodulin regulated spectrin-associated protein							41.0	44.0	43.0					1																	200784772		2202	4290	6492	SO:0001630	splice_region_variant	23271					cytoplasm|microtubule	protein binding	g.chr1:200784772G>A	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.645+1G>A	1.37:g.200784772G>A						CAMSAP1L1_uc001gvk.2_Silent_p.K215K|CAMSAP1L1_uc001gvm.2_Silent_p.K215K	p.K215K	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			4	915	+			215			CH.		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Silent	SNP	ENST00000236925.4	37	c.645G>A																																																																																					PASS	0.264	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459	Silent	6	9	6	9	---	---	---	---
CD46	4179	broad.mit.edu	37	1	207930442	207930442	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr1:207930442G>C	ENST00000358170.2	+	2	337	c.181G>C	c.(181-183)Gat>Cat	p.D61H	CD46_ENST00000361067.1_Missense_Mutation_p.D61H|CD46_ENST00000322875.4_Missense_Mutation_p.D61H|CD46_ENST00000480003.1_Missense_Mutation_p.D61H|CD46_ENST00000354848.1_Missense_Mutation_p.D61H|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000367042.1_Missense_Mutation_p.D61H|CD46_ENST00000367041.1_Missense_Mutation_p.D61H|CD46_ENST00000360212.2_Missense_Mutation_p.D61H|CD46_ENST00000357714.1_Missense_Mutation_p.D61H|CD46_ENST00000322918.5_Missense_Mutation_p.D61H|CD46_ENST00000441839.2_Missense_Mutation_p.D61H|CD46_ENST00000367047.1_Intron	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	61	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)	p.D61H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGAACGAGTAGATTATAAGTG	0.418																																						uc001hgc.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)|central_nervous_system(1)	4						c.(181-183)GAT>CAT		CD46 antigen, complement regulatory protein							110.0	107.0	108.0					1																	207930442		2203	4300	6503	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207930442G>C	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.181G>C	1.37:g.207930442G>C	ENSP00000350893:p.Asp61His					CD46_uc001hgd.2_Missense_Mutation_p.D61H|CD46_uc001hge.2_Missense_Mutation_p.D61H|CD46_uc001hgf.2_Missense_Mutation_p.D61H|CD46_uc001hgg.2_Missense_Mutation_p.D61H|CD46_uc001hgh.2_Missense_Mutation_p.D61H|CD46_uc001hgi.2_Missense_Mutation_p.D61H|CD46_uc001hgj.2_Missense_Mutation_p.D61H|CD46_uc001hgk.2_Missense_Mutation_p.D61H|CD46_uc001hgl.2_Missense_Mutation_p.D61H|CD46_uc001hgm.2_Missense_Mutation_p.D61H|CD46_uc001hgn.2_Missense_Mutation_p.D61H|CD46_uc001hgo.2_Missense_Mutation_p.D61H|CD46_uc001hgp.2_Missense_Mutation_p.D61H	p.D61H	NM_002389	NP_002380	P15529	MCP_HUMAN			2	337	+			61			Extracellular (Potential).|Sushi 1.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.181G>C	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069919	0.36566	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	3.72	-2.33	0.06724	Complement control module (2);Sushi/SCR/CCP (3);	2.588180	0.01303	N	0.010353	T	0.63331	0.2502	L	0.29908	0.895	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.987;0.968;0.992;0.987;0.986;0.986;0.987;0.992;0.987;0.987;0.987;0.986;0.968;0.999	P;P;P;P;P;P;P;P;P;P;P;P;P;D	0.70716	0.728;0.507;0.67;0.728;0.767;0.832;0.728;0.67;0.728;0.776;0.728;0.832;0.507;0.97	T	0.52548	-0.8561	10	0.52906	T	0.07	.	0.6264	0.00786	0.3773:0.17:0.2795:0.1732	.	61;61;61;61;61;61;61;61;61;61;61;61;61;61	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	H	61	ENSP00000350893:D61H;ENSP00000346912:D61H;ENSP00000314664:D61H;ENSP00000356009:D61H;ENSP00000356008:D61H;ENSP00000350346:D61H;ENSP00000313875:D61H;ENSP00000413543:D61H;ENSP00000354358:D61H;ENSP00000353342:D61H;ENSP00000418471:D61H	ENSP00000313875:D61H	D	+	1	0	CD46	205997065	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.793000	0.01755	-0.460000	0.07003	-0.339000	0.08088	GAT		PASS	0.418	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		73	45	73	45	---	---	---	---
KCTD3	51133	broad.mit.edu	37	1	215759994	215759994	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr1:215759994G>T	ENST00000259154.4	+	9	1077	c.783G>T	c.(781-783)tgG>tgT	p.W261C		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	261					protein homooligomerization (GO:0051260)			p.W261C(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)		TCATCTTGTGGAGTGTTCAGG	0.388																																						uc001hks.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(781-783)TGG>TGT		potassium channel tetramerisation domain							183.0	183.0	183.0					1																	215759994		2203	4300	6503	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215759994G>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.783G>T	1.37:g.215759994G>T	ENSP00000259154:p.Trp261Cys					KCTD3_uc001hkt.2_Missense_Mutation_p.W261C|KCTD3_uc010pub.1_Missense_Mutation_p.W159C|KCTD3_uc009xdn.2_Missense_Mutation_p.W13C	p.W261C	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)	9	1077	+			261			WD 1.		A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.783G>T	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605413	0.87157	.	.	ENSG00000136636	ENST00000259154	T	0.12984	2.63	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.43144	0.1234	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	T	0.23297	-1.0192	10	0.59425	D	0.04	-16.0603	19.1816	0.93625	0.0:0.0:1.0:0.0	.	13;13;261;261	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	C	261	ENSP00000259154:W261C	ENSP00000259154:W261C	W	+	3	0	KCTD3	213826617	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.779000	0.95612	0.591000	0.81541	TGG		PASS	0.388	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		73	59	73	59	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235896901	235896901	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr1:235896901C>A	ENST00000389794.3	-	34	8877	c.8703G>T	c.(8701-8703)gaG>gaT	p.E2901D	LYST_ENST00000389793.2_Missense_Mutation_p.E2901D|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2901					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.E2901D(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CCTTTTTTCTCTCATTTCCTT	0.398																																						uc001hxj.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(8701-8703)GAG>GAT		lysosomal trafficking regulator							95.0	83.0	87.0					1																	235896901		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235896901C>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.8703G>T	1.37:g.235896901C>A	ENSP00000374444:p.Glu2901Asp					LYST_uc001hxi.2_Missense_Mutation_p.E125D	p.E2901D	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		34	8878	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2901					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.8703G>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857830	0.71834	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.63744	-0.06;-0.06	5.4	1.95	0.26073	.	0.140381	0.64402	D	0.000005	T	0.71863	0.3390	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.70332	-0.4901	10	0.59425	D	0.04	.	7.0414	0.25023	0.0:0.503:0.0:0.497	.	2901	Q99698	LYST_HUMAN	D	2901	ENSP00000374444:E2901D;ENSP00000374443:E2901D	ENSP00000374443:E2901D	E	-	3	2	LYST	233963524	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.253000	0.32886	0.625000	0.30304	0.491000	0.48974	GAG		PASS	0.398	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			11	59	11	59	---	---	---	---
GCSAML	148823	broad.mit.edu	37	1	247719715	247719715	+	Silent	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr1:247719715G>T	ENST00000366488.4	+	2	140	c.36G>T	c.(34-36)ctG>ctT	p.L12L	GCSAML_ENST00000463359.1_5'UTR|GCSAML_ENST00000527084.1_5'UTR|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000536561.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like	12								p.L12L(1)									ATAGTTGCCTGGGAGAGAATC	0.363																																						uc001idf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(34-36)CTG>CTT		hypothetical protein LOC148823							98.0	115.0	109.0					1																	247719715		2203	4300	6503	SO:0001819	synonymous_variant	148823							g.chr1:247719715G>T	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.36G>T	1.37:g.247719715G>T						C1orf150_uc009xgw.2_RNA|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron	p.L12L	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	81	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		12					B2R4Y5|B3KX46|Q5JQT3	Silent	SNP	ENST00000366488.4	37	c.36G>T	CCDS1635.1																																																																																				PASS	0.363	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		4	14	4	14	---	---	---	---
OR1C1	26188	broad.mit.edu	37	1	247921596	247921596	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr1:247921596G>T	ENST00000408896.2	-	1	386	c.113C>A	c.(112-114)aCc>aAc	p.T38N		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	38					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.T38N(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CCCCAAGGTGGTGGCTAAATA	0.478																																						uc010pza.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(112-114)ACC>AAC		olfactory receptor, family 1, subfamily C,							61.0	60.0	61.0					1																	247921596		2093	4230	6323	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921596G>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.113C>A	1.37:g.247921596G>T	ENSP00000386138:p.Thr38Asn						p.T38N	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	113	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	38			Helical; Name=1; (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.113C>A	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	G	2.632	-0.286141	0.05605	.	.	ENSG00000221888	ENST00000408896	T	0.01438	4.89	2.92	2.92	0.33932	.	.	.	.	.	T	0.02571	0.0078	M	0.72624	2.21	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.24621	-1.0155	9	0.87932	D	0	.	8.1317	0.31031	0.1189:0.0:0.8811:0.0	.	38	Q15619	OR1C1_HUMAN	N	38	ENSP00000386138:T38N	ENSP00000386138:T38N	T	-	2	0	OR1C1	245988219	0.011000	0.17503	0.015000	0.15790	0.004000	0.04260	1.007000	0.29860	1.626000	0.50381	0.650000	0.86243	ACC		PASS	0.478	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			6	18	6	18	---	---	---	---
EHBP1	23301	broad.mit.edu	37	2	63176080	63176080	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr2:63176080A>T	ENST00000263991.5	+	14	2686	c.2204A>T	c.(2203-2205)gAa>gTa	p.E735V	EHBP1_ENST00000354487.3_Missense_Mutation_p.E700V|EHBP1_ENST00000405289.1_Missense_Mutation_p.E700V|EHBP1_ENST00000431489.1_Missense_Mutation_p.E700V|EHBP1_ENST00000405015.3_Missense_Mutation_p.E700V	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	735						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.E735V(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TTGGAGAAAGAAAAATTAGAG	0.353																																						uc002sby.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(2203-2205)GAA>GTA		EH domain binding protein 1 isoform 1							53.0	58.0	56.0					2																	63176080		2203	4300	6503	SO:0001583	missense	23301	Hereditary_Prostate_Cancer				cytoplasm|membrane		g.chr2:63176080A>T	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.2204A>T	2.37:g.63176080A>T	ENSP00000263991:p.Glu735Val					EHBP1_uc010fcp.2_Missense_Mutation_p.E700V|EHBP1_uc002sbz.2_Missense_Mutation_p.E700V|EHBP1_uc002scb.2_Missense_Mutation_p.E700V	p.E735V	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		14	2686	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		735					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.2204A>T	CCDS1872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.48|16.48	3.136337|3.136337	0.56936|0.56936	.|.	.|.	ENSG00000115504|ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289|ENST00000454124	T;T;T;T;T|.	0.76968|.	-1.03;-1.03;-1.06;-1.04;-1.04|.	6.03|6.03	3.6|3.6	0.41247|0.41247	.|.	0.302315|.	0.33023|.	N|.	0.005367|.	T|.	0.52041|.	0.1710|.	L|L	0.55481|0.55481	1.735|1.735	0.35998|0.35998	D|D	0.837172|0.837172	B;P;B|.	0.40875|.	0.399;0.731;0.278|.	B;P;B|.	0.44359|.	0.433;0.447;0.25|.	T|.	0.55283|.	-0.8165|.	10|.	0.33940|.	T|.	0.23|.	.|.	6.5292|6.5292	0.22318|0.22318	0.7351:0.1307:0.1342:0.0|0.7351:0.1307:0.1342:0.0	.|.	700;700;735|.	Q8NDI1-2;Q8NDI1-3;Q8NDI1|.	.;.;EHBP1_HUMAN|.	V|X	700;700;735;700;700|5	ENSP00000384143:E700V;ENSP00000403783:E700V;ENSP00000263991:E735V;ENSP00000346482:E700V;ENSP00000385524:E700V|.	ENSP00000263991:E735V|.	E|K	+|+	2|1	0|0	EHBP1|EHBP1	63029584|63029584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.166000|3.166000	0.50785|0.50785	0.495000|0.495000	0.27882|0.27882	0.533000|0.533000	0.62120|0.62120	GAA|AAA		PASS	0.353	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		16	32	16	32	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80816562	80816562	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr2:80816562T>C	ENST00000402739.4	+	14	2146	c.2141T>C	c.(2140-2142)cTg>cCg	p.L714P	CTNNA2_ENST00000361291.4_Missense_Mutation_p.L748P|CTNNA2_ENST00000496558.1_Missense_Mutation_p.L714P|CTNNA2_ENST00000540488.1_Missense_Mutation_p.L714P|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.L393P|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000466387.1_Missense_Mutation_p.L714P|CTNNA2_ENST00000541047.1_Missense_Mutation_p.L714P|AC008067.2_ENST00000609950.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	714					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.L714P(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATCATTGTACTGGCCAAGCAG	0.458																																						uc010ysh.1																			1	Substitution - Missense(1)		lung(1)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(2140-2142)CTG>CCG		catenin, alpha 2 isoform 1							127.0	137.0	134.0					2																	80816562		2201	4300	6501	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80816562T>C		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2141T>C	2.37:g.80816562T>C	ENSP00000384638:p.Leu714Pro					CTNNA2_uc010yse.1_Missense_Mutation_p.L714P|CTNNA2_uc010ysf.1_Missense_Mutation_p.L714P|CTNNA2_uc010ysg.1_Missense_Mutation_p.L714P|CTNNA2_uc010ysi.1_Missense_Mutation_p.L346P|CTNNA2_uc010ysj.1_Missense_Mutation_p.L43P	p.L714P	NM_004389	NP_004380	P26232	CTNA2_HUMAN			14	2146	+			714					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2141T>C		.	.	.	.	.	.	.	.	.	.	T	24.5	4.537756	0.85917	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000002	T	0.71660	0.3366	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	0.991;1.0;1.0;1.0	D;D;D;D	0.97110	0.926;1.0;0.996;0.998	T	0.77590	-0.2531	9	.	.	.	.	16.4608	0.84044	0.0:0.0:0.0:1.0	.	346;714;714;714	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	P	714;714;748;714;714;714;393	ENSP00000418191:L714P;ENSP00000419295:L714P;ENSP00000355398:L748P;ENSP00000384638:L714P;ENSP00000444675:L714P;ENSP00000441705:L714P;ENSP00000341500:L393P	.	L	+	2	0	CTNNA2	80670073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.846000	0.86887	2.288000	0.76882	0.533000	0.62120	CTG		PASS	0.458	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		17	28	17	28	---	---	---	---
CD8B	926	broad.mit.edu	37	2	87085418	87085418	+	Silent	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr2:87085418C>T	ENST00000390655.6	-	2	223	c.165G>A	c.(163-165)ctG>ctA	p.L55L	CD8B_ENST00000349455.3_Silent_p.L55L|CD8B_ENST00000393761.2_Silent_p.L55L|CD8B_ENST00000393759.2_Silent_p.L55L|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Silent_p.L55L	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	55	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)	p.L55L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GGCGCTGTCTCAGCCAGTAGA	0.547																																						uc002srz.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|skin(1)	2						c.(163-165)CTG>CTA		CD8b antigen isoform 5 precursor							125.0	108.0	114.0					2																	87085418		2203	4300	6503	SO:0001819	synonymous_variant	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87085418C>T		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.165G>A	2.37:g.87085418C>T						RMND5A_uc002srs.3_Intron|CD8B_uc002srw.2_Silent_p.L55L|CD8B_uc002srx.2_Silent_p.L55L|CD8B_uc002sry.2_Silent_p.L55L|CD8B_uc010fgt.2_Silent_p.L55L|CD8B_uc002ssa.2_Silent_p.L55L|CD8B_uc010yto.1_Silent_p.L55L	p.L55L	NM_004931	NP_004922	P10966	CD8B_HUMAN			2	215	-			55			Ig-like V-type.|Extracellular (Potential).		P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Silent	SNP	ENST00000390655.6	37	c.165G>A	CCDS1997.1																																																																																				PASS	0.547	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		16	36	16	36	---	---	---	---
POTEF	728378	broad.mit.edu	37	2	130832484	130832484	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr2:130832484T>A	ENST00000409914.2	-	17	2960	c.2561A>T	c.(2560-2562)gAc>gTc	p.D854V	POTEF_ENST00000357462.5_Missense_Mutation_p.D854V	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	854	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.D854V(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GTCACCAGAGTCCATCACGAT	0.607																																						uc010fmh.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2560-2562)GAC>GTC		prostate, ovary, testis expressed protein on							65.0	78.0	73.0					2																	130832484		2191	4276	6467	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130832484T>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2561A>T	2.37:g.130832484T>A	ENSP00000386786:p.Asp854Val						p.D854V	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			17	2961	-			854			Actin-like.		A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.2561A>T	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	14.01	2.408059	0.42715	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.97688	-4.49;-4.49	.	.	.	.	.	.	.	.	D	0.99309	0.9758	H	0.99992	5.35	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.95460	0.8542	8	0.87932	D	0	.	4.5487	0.12098	0.0:6.0E-4:0.0:0.9994	.	854	A5A3E0	POTEF_HUMAN	V	854	ENSP00000350052:D854V;ENSP00000386786:D854V	ENSP00000350052:D854V	D	-	2	0	POTEF	130548954	1.000000	0.71417	0.116000	0.21606	0.117000	0.20001	5.392000	0.66272	0.103000	0.17682	0.102000	0.15555	GAC		PASS	0.607	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		46	50	46	50	---	---	---	---
AMER3	205147	broad.mit.edu	37	2	131520751	131520751	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr2:131520751C>A	ENST00000423981.1	+	2	1216	c.1106C>A	c.(1105-1107)aCa>aAa	p.T369K	AMER3_ENST00000321420.4_Missense_Mutation_p.T369K	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	369					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.T369K(1)									TCCATCGACACAGGCACCCCC	0.627																																						uc002trw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1105-1107)ACA>AAA		hypothetical protein LOC205147							59.0	50.0	53.0					2																	131520751		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131520751C>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1106C>A	2.37:g.131520751C>A	ENSP00000392700:p.Thr369Lys					FAM123C_uc010fmv.2_Missense_Mutation_p.T369K|FAM123C_uc010fms.1_Missense_Mutation_p.T369K|FAM123C_uc010fmt.1_Missense_Mutation_p.T369K|FAM123C_uc010fmu.1_Missense_Mutation_p.T369K	p.T369K	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1296	+	Colorectal(110;0.1)		369					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1106C>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490438	0.44249	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.17054	2.3;2.3	5.4	5.4	0.78164	.	0.157599	0.42420	D	0.000713	T	0.33760	0.0874	M	0.63428	1.95	0.31445	N	0.671523	D	0.58620	0.983	P	0.54706	0.759	T	0.27502	-1.0072	10	0.72032	D	0.01	-14.6973	17.0587	0.86541	0.0:1.0:0.0:0.0	.	369	Q8N944	F123C_HUMAN	K	369	ENSP00000314914:T369K;ENSP00000392700:T369K	ENSP00000314914:T369K	T	+	2	0	FAM123C	131237221	0.936000	0.31750	0.915000	0.36163	0.209000	0.24338	1.703000	0.37846	2.707000	0.92482	0.561000	0.74099	ACA		PASS	0.627	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		10	32	10	32	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136566581	136566581	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr2:136566581G>T	ENST00000264162.2	-	8	3346	c.3336C>A	c.(3334-3336)taC>taA	p.Y1112*	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1112	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.Y1112*(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GCTCCTGCCTGTATTTCTCAT	0.587																																						uc002tuu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(3334-3336)TAC>TAA		lactase-phlorizin hydrolase preproprotein							72.0	76.0	75.0					2																	136566581		2203	4300	6503	SO:0001587	stop_gained	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566581G>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3336C>A	2.37:g.136566581G>T	ENSP00000264162:p.Tyr1112*						p.Y1112*	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3347	-			1112			3.|Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Nonsense_Mutation	SNP	ENST00000264162.2	37	c.3336C>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805612	0.90623	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	.	.	.	5.66	3.77	0.43336	.	0.053049	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.4915	8.8363	0.35115	0.2413:0.0:0.7587:0.0	.	.	.	.	X	1112;544	.	ENSP00000264162:Y1112X	Y	-	3	2	LCT	136283051	0.986000	0.35501	0.986000	0.45419	0.639000	0.38242	0.374000	0.20501	1.294000	0.44707	0.563000	0.77884	TAC		PASS	0.587	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		34	54	34	54	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141598565	141598565	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr2:141598565C>A	ENST00000389484.3	-	30	6007	c.5036G>T	c.(5035-5037)aGg>aTg	p.R1679M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1679					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.R1679M(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCATCTAGCCTTGCCACATT	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(5035-5037)AGG>ATG		low density lipoprotein-related protein 1B							133.0	118.0	123.0					2																	141598565		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141598565C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5036G>T	2.37:g.141598565C>A	ENSP00000374135:p.Arg1679Met	TSP Lung(27;0.18)					p.R1679M	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	30	6008	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1679			Extracellular (Potential).|LDL-receptor class B 15.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5036G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154890	0.78114	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91351	-2.83	5.44	5.44	0.79542	Six-bladed beta-propeller, TolB-like (1);	0.079592	0.49305	U	0.000145	D	0.94594	0.8258	M	0.90650	3.135	0.45837	D	0.998704	D	0.64830	0.994	P	0.57371	0.819	D	0.94910	0.8064	10	0.72032	D	0.01	.	10.4169	0.44327	0.0:0.88:0.0:0.12	.	1679	Q9NZR2	LRP1B_HUMAN	M	1679;1617	ENSP00000374135:R1679M	ENSP00000374135:R1679M	R	-	2	0	LRP1B	141315035	1.000000	0.71417	0.890000	0.34922	0.965000	0.64279	4.811000	0.62606	2.563000	0.86464	0.460000	0.39030	AGG		PASS	0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	57	4	57	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152525607	152525607	+	Silent	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr2:152525607C>T	ENST00000172853.10	-	39	4692	c.4545G>A	c.(4543-4545)aaG>aaA	p.K1515K	NEB_ENST00000604864.1_Silent_p.K1515K|NEB_ENST00000427231.2_Silent_p.K1515K|NEB_ENST00000603639.1_Silent_p.K1515K|NEB_ENST00000397345.3_Silent_p.K1515K|NEB_ENST00000409198.1_Silent_p.K1515K			P20929	NEBU_HUMAN	nebulin	1515					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.K1515K(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAATAGTATACTTGTGCTTCA	0.393																																						uc010fnx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(4543-4545)AAG>AAA		nebulin isoform 3							130.0	130.0	130.0					2																	152525607		1923	4128	6051	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152525607C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4545G>A	2.37:g.152525607C>T							p.K1515K	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	39	4736	-			1515					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.4545G>A																																																																																					PASS	0.393	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		3	8	3	8	---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167108342	167108342	+	Silent	SNP	A	A	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr2:167108342A>T	ENST00000409435.1	-	17	3404	c.3405T>A	c.(3403-3405)ccT>ccA	p.P1135P	SCN9A_ENST00000375387.4_Silent_p.P1136P|SCN9A_ENST00000303354.6_Silent_p.P1136P|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.P1124P			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1135					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.P1124P(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCCTTCTCCAGGCAAAGGGT	0.458																																						uc010fpl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(3370-3372)CCT>CCA		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						102.0	95.0	98.0					2																	167108342		1909	4123	6032	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167108342A>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3405T>A	2.37:g.167108342A>T						uc002udp.2_RNA	p.P1124P	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			18	3713	-			1135					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.3372T>A	CCDS46441.1																																																																																				PASS	0.458	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		20	22	20	22	---	---	---	---
GAD1	2571	broad.mit.edu	37	2	171709291	171709291	+	Missense_Mutation	SNP	G	G	A	rs143058194	byFrequency	TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr2:171709291G>A	ENST00000358196.3	+	13	1802	c.1252G>A	c.(1252-1254)Gtc>Atc	p.V418I		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	418					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.V418I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						TGCCATTCTCGTCAAGGAAAA	0.512													g|||	7	0.00139776	0.0038	0.0029	5008	,	,		20699	0.0		0.0	False		,,,				2504	0.0					uc002ugi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1252-1254)GTC>ATC		glutamate decarboxylase 1 isoform GAD67	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	A	ILE/VAL	22,4384	29.0+/-57.7	0,22,2181	178.0	137.0	151.0		1252	3.2	0.9	2	dbSNP_134	151	0,8600		0,0,4300	yes	missense	GAD1	NM_000817.2	29	0,22,6481	AA,AG,GG		0.0,0.4993,0.1692	benign	418/595	171709291	22,12984	2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171709291G>A		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.1252G>A	2.37:g.171709291G>A	ENSP00000350928:p.Val418Ile					GAD1_uc010fqc.2_Missense_Mutation_p.V37I	p.V418I	NM_000817	NP_000808	Q99259	DCE1_HUMAN			13	1674	+			418					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.1252G>A	CCDS2239.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	g	12.27	1.886713	0.33348	0.004993	0.0	ENSG00000128683	ENST00000358196	T	0.45668	0.89	5.91	3.15	0.36227	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.243493	0.41396	N	0.000884	T	0.19886	0.0478	L	0.37750	1.13	0.80722	D	1	B	0.16603	0.018	B	0.17433	0.018	T	0.07712	-1.0758	10	0.30078	T	0.28	-10.7613	3.3295	0.07079	0.1949:0.115:0.5715:0.1185	.	418	Q99259	DCE1_HUMAN	I	418	ENSP00000350928:V418I	ENSP00000350928:V418I	V	+	1	0	GAD1	171417537	0.992000	0.36948	0.904000	0.35570	0.874000	0.50279	1.692000	0.37731	0.858000	0.35431	-0.119000	0.15052	GTC		PASS	0.512	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			7	25	7	25	---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189916169	189916169	+	Silent	SNP	C	C	A	rs141089340		TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr2:189916169C>A	ENST00000374866.3	-	42	3082	c.2808G>T	c.(2806-2808)ggG>ggT	p.G936G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	936					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.G936G(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GTCCCTCCTTCCCGGGTTCCC	0.597																																						uc002uqk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2806-2808)GGG>GGT		alpha 2 type V collagen preproprotein		C		0,4406		0,0,2203	41.0	43.0	42.0		2808	3.9	1.0	2	dbSNP_134	42	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL5A2	NM_000393.3		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		936/1500	189916169	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189916169C>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2808G>T	2.37:g.189916169C>A						COL5A2_uc010frx.2_Silent_p.G512G	p.G936G	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		42	3083	-			936					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	c.2808G>T	CCDS33350.1																																																																																				PASS	0.597	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		11	19	11	19	---	---	---	---
CASP8	841	broad.mit.edu	37	2	202149561	202149561	+	Silent	SNP	A	A	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr2:202149561A>G	ENST00000432109.2	+	9	1014	c.825A>G	c.(823-825)gaA>gaG	p.E275E	CASP8_ENST00000264274.9_Silent_p.E191E|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Silent_p.E292E|CASP8_ENST00000358485.4_Silent_p.E334E|CASP8_ENST00000323492.7_Silent_p.E260E	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	275					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.E292E(2)|p.E334E(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CGACCTTTGAAGAGCTTCATT	0.438										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1																			3	Substitution - coding silent(3)		lung(3)	upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(823-825)GAA>GAG		caspase 8 isoform B precursor							74.0	70.0	72.0					2																	202149561		2203	4300	6503	SO:0001819	synonymous_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202149561A>G	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.825A>G	2.37:g.202149561A>G		HNSCC(4;0.00038)				CASP8_uc002uxp.1_Silent_p.E292E|CASP8_uc002uxq.1_Silent_p.E260E|CASP8_uc002uxt.1_Silent_p.E334E|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Silent_p.E260E|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Silent_p.E191E	p.E275E	NM_033355	NP_203519	Q14790	CASP8_HUMAN			9	1034	+			275					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Silent	SNP	ENST00000432109.2	37	c.825A>G	CCDS2342.1																																																																																				PASS	0.438	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		20	45	20	45	---	---	---	---
UNC80	285175	broad.mit.edu	37	2	210650903	210650903	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr2:210650903C>G	ENST00000439458.1	+	5	794	c.714C>G	c.(712-714)aaC>aaG	p.N238K	UNC80_ENST00000272845.6_Missense_Mutation_p.N238K|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	238					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N238K(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CCATCAGGAACATCATTACAG	0.498																																						uc010zjc.1																			2	Substitution - Missense(2)		lung(2)		0						c.(712-714)AAC>AAG		chromosome 2 open reading frame 21 isoform 1							108.0	100.0	103.0					2																	210650903		2203	4300	6503	SO:0001583	missense	285175					integral to membrane		g.chr2:210650903C>G	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.714C>G	2.37:g.210650903C>G	ENSP00000391088:p.Asn238Lys					UNC80_uc002vdj.1_Missense_Mutation_p.N238K	p.N238K	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN			5	794	+			238					B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	c.714C>G	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093960	0.76870	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.32023	1.47;1.47	5.95	5.95	0.96441	.	0.139116	0.64402	D	0.000006	T	0.29556	0.0737	L	0.43152	1.355	0.80722	D	1	B;B	0.26845	0.042;0.161	B;B	0.26310	0.068;0.033	T	0.03673	-1.1014	10	0.59425	D	0.04	.	14.5254	0.67884	0.0:0.9303:0.0:0.0697	.	238;238	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	K	238	ENSP00000391088:N238K;ENSP00000272845:N238K	ENSP00000272845:N238K	N	+	3	2	UNC80	210359148	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.083000	0.71326	2.821000	0.97095	0.650000	0.86243	AAC		PASS	0.498	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587		6	41	6	41	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211481167	211481168	+	Missense_Mutation	DNP	CC	CC	AA	rs139626513		TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr2:211481167_211481168CC>AA	ENST00000233072.5	+	21	2785_2786	c.2589_2590CC>AA	c.(2587-2592)tcCCtt>tcAAtt	p.L864I	CPS1_ENST00000430249.2_Missense_Mutation_p.L870I|CPS1_ENST00000451903.2_Missense_Mutation_p.L413I	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	864					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.L864I(2)|p.L870I(2)|p.S869S(1)|p.S863S(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ACAACATGTCCCTTGATGAGAT	0.361																																						uc002vee.3																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2587-2589)TCC>TCA|c.(2590-2592)CTT>ATT		carbamoyl-phosphate synthetase 1 isoform b																																				SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211481167C>A|g.chr2:211481168C>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	Exception_encountered	2.37:g.211481167_211481168delinsAA	ENSP00000233072:p.Leu864Ile					CPS1_uc010fur.2_Silent_p.S869S|CPS1_uc010fus.2_Silent_p.S412S|LOC29034_uc002vef.2_5'Flank|CPS1_uc010fur.2_Missense_Mutation_p.L870I|CPS1_uc010fus.2_Missense_Mutation_p.L413I|LOC29034_uc002vef.2_5'Flank	p.S863S|p.L864I	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	21	2721|2722	+			863|864					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent|Missense_Mutation	SNP	ENST00000233072.5	37	c.2589C>A|c.2590C>A	CCDS2393.1																																																																																				PASS	0.361	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			23	42|43	23	42	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227895291	227895291	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr2:227895291G>T	ENST00000396625.3	-	41	4048	c.3841C>A	c.(3841-3843)Cct>Act	p.P1281T	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1281T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1281	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P1281T(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACACTCCCAGGGAGGCCTGGA	0.557																																						uc010zlt.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(3841-3843)CCT>ACT		alpha 4 type IV collagen precursor							51.0	50.0	50.0					2																	227895291		1878	4101	5979	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227895291G>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3841C>A	2.37:g.227895291G>T	ENSP00000379866:p.Pro1281Thr						p.P1281T	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	41	4495	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1281			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.3841C>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205262	0.39003	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.97710	-4.5;-4.5	5.69	5.69	0.88448	.	.	.	.	.	D	0.98118	0.9379	M	0.75085	2.285	0.23356	N	0.997843	D	0.54964	0.969	P	0.57679	0.825	D	0.95064	0.8198	9	0.38643	T	0.18	.	15.3115	0.74035	0.0:0.0:1.0:0.0	.	1281	P53420	CO4A4_HUMAN	T	1281	ENSP00000379866:P1281T;ENSP00000328553:P1281T	ENSP00000328553:P1281T	P	-	1	0	COL4A4	227603535	1.000000	0.71417	0.451000	0.26982	0.597000	0.36814	5.329000	0.65892	2.682000	0.91365	0.609000	0.83330	CCT		PASS	0.557	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		16	51	16	51	---	---	---	---
C2orf57	165100	broad.mit.edu	37	2	232458019	232458019	+	Silent	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr2:232458019G>A	ENST00000313965.2	+	1	445	c.357G>A	c.(355-357)caG>caA	p.Q119Q		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	119								p.Q119Q(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GGACAAGTCAGAGTCTAGTGG	0.547																																						uc002vrz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(355-357)CAG>CAA		hypothetical protein LOC165100							128.0	131.0	130.0					2																	232458019		2203	4300	6503	SO:0001819	synonymous_variant	165100							g.chr2:232458019G>A	BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.357G>A	2.37:g.232458019G>A							p.Q119Q	NM_152614	NP_689827	Q53QW1	CB057_HUMAN		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)	1	408	+		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)	119					Q8N4F2	Silent	SNP	ENST00000313965.2	37	c.357G>A	CCDS2487.1																																																																																				PASS	0.547	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		15	36	15	36	---	---	---	---
UGT1A6	54578	broad.mit.edu	37	2	234681017	234681017	+	Missense_Mutation	SNP	C	C	T	rs377565834		TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr2:234681017C>T	ENST00000305139.6	+	5	1550	c.1411C>T	c.(1411-1413)Cca>Tca	p.P471S	UGT1A3_ENST00000482026.1_Missense_Mutation_p.P473S|UGT1A9_ENST00000354728.4_Missense_Mutation_p.P469S|UGT1A4_ENST00000373409.3_Missense_Mutation_p.P473S|UGT1A7_ENST00000373426.3_Missense_Mutation_p.P469S|UGT1A1_ENST00000609637.1_Missense_Mutation_p.P469S|UGT1A1_ENST00000609767.1_Missense_Mutation_p.P473S|UGT1A1_ENST00000373450.4_Missense_Mutation_p.P469S|UGT1A10_ENST00000344644.5_Missense_Mutation_p.P469S|UGT1A6_ENST00000373424.1_Missense_Mutation_p.P204S|UGT1A8_ENST00000305208.5_Missense_Mutation_p.P472S|UGT1A1_ENST00000608383.1_Missense_Mutation_p.P472S|UGT1A5_ENST00000373414.3_Missense_Mutation_p.P473S|UGT1A1_ENST00000608381.1_Missense_Mutation_p.P473S	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	471					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P469S(4)|p.P473S(3)|p.P471S(1)|p.P472S(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	CAAGGGCGCGCCACACCTGCG	0.622																																						uc002vuw.2																			9	Substitution - Missense(9)		lung(9)	skin(1)	1						c.(1417-1419)CCA>TCA		UDP glycosyltransferase 1 family, polypeptide A5		C	SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO	0,4406		0,0,2203	134.0	114.0	121.0		610,1405,1417,1417,1405,1405,1405,1417,1411,1414	4.0	0.0	2		121	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4,UGT1A1,UGT1A3	NM_205862.1,NM_021027.2,NM_019093.2,NM_019078.1,NM_019077.2,NM_019076.4,NM_019075.2,NM_007120.2,NM_001072.3,NM_000463.2	74,74,74,74,74,74,74,74,74,74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	204/266,469/531,473/535,473/535,469/531,469/531,469/531,473/535,471/533,472/534	234681017	1,13005	2203	4300	6503	SO:0001583	missense	54579				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr2:234681017C>T	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.1411C>T	2.37:g.234681017C>T	ENSP00000303174:p.Pro471Ser					UGT1A8_uc002vup.2_Missense_Mutation_p.P469S|UGT1A10_uc002vur.2_Missense_Mutation_p.P469S|UGT1A9_uc002vus.2_Missense_Mutation_p.P469S|UGT1A7_uc002vut.2_Missense_Mutation_p.P469S|UGT1A6_uc002vuu.2_Missense_Mutation_p.P204S|UGT1A6_uc002vuv.3_Missense_Mutation_p.P471S|UGT1A4_uc002vux.2_Missense_Mutation_p.P473S|UGT1A3_uc002vuy.2_Missense_Mutation_p.P473S|UGT1A9_uc002vva.2_RNA|UGT1A1_uc002vvb.2_Missense_Mutation_p.P472S	p.P473S	NM_019078	NP_061951	P35504	UD15_HUMAN		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	5	1417	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	473					A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	c.1417C>T	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556160	0.45487	0.0	1.16E-4	ENSG00000242366;ENSG00000242515;ENSG00000241119;ENSG00000244122;ENSG00000167165;ENSG00000167165;ENSG00000240224;ENSG00000244474;ENSG00000243135;ENSG00000241635	ENST00000373450;ENST00000344644;ENST00000354728;ENST00000373426;ENST00000373424;ENST00000305139;ENST00000373414;ENST00000373409;ENST00000482026;ENST00000305208	T;T;T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	5.83	4.04	0.47022	.	0.330247	0.31601	N	0.007372	T	0.55800	0.1943	L	0.58810	1.83	0.32227	N	0.574533	B;B;B;B;P;B;P;P;B	0.36753	0.081;0.211;0.103;0.153;0.531;0.243;0.568;0.568;0.211	B;B;B;B;B;B;B;B;B	0.40940	0.158;0.09;0.038;0.095;0.344;0.21;0.229;0.229;0.09	T	0.64093	-0.6488	10	0.41790	T	0.15	.	11.1753	0.48595	0.1285:0.8056:0.0:0.0659	.	472;473;473;473;471;469;469;469;469	P22309;P35503;P22310;P35504;P19224;Q9HAW7;O60656;Q9HAW8;Q9HAW9	UD11_HUMAN;UD13_HUMAN;UD14_HUMAN;UD15_HUMAN;UD16_HUMAN;UD17_HUMAN;UD19_HUMAN;UD110_HUMAN;UD18_HUMAN	S	469;469;469;469;204;471;473;473;473;472	ENSP00000362549:P469S;ENSP00000343838:P469S;ENSP00000346768:P469S;ENSP00000362525:P469S;ENSP00000362523:P204S;ENSP00000303174:P471S;ENSP00000362513:P473S;ENSP00000362508:P473S;ENSP00000418532:P473S;ENSP00000304845:P472S	ENSP00000343838:P469S	P	+	1	0	UGT1A7;UGT1A6;UGT1A10;UGT1A9;UGT1A8;UGT1A3;UGT1A5;UGT1A4;UGT1A1	234345756	0.000000	0.05858	0.005000	0.12908	0.963000	0.63663	0.555000	0.23422	0.807000	0.34208	0.655000	0.94253	CCA		PASS	0.622	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		24	74	24	74	---	---	---	---
EPM2AIP1	9852	broad.mit.edu	37	3	37034359	37034359	+	Silent	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr3:37034359C>A	ENST00000322716.5	-	1	436	c.210G>T	c.(208-210)gcG>gcT	p.A70A	MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000455445.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	70					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)		p.A70A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GCTCGCCGTCCGCCACATACC	0.677																																						uc003cgk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(208-210)GCG>GCT		EPM2A interacting protein 1							27.0	33.0	31.0					3																	37034359		2052	4199	6251	SO:0001819	synonymous_variant	9852					endoplasmic reticulum		g.chr3:37034359C>A	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.210G>T	3.37:g.37034359C>A						MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	p.A70A	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN			1	437	-			70					O94866|Q9H3L3	Silent	SNP	ENST00000322716.5	37	c.210G>T	CCDS46790.1																																																																																				PASS	0.677	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		8	19	8	19	---	---	---	---
OR5H15	403274	broad.mit.edu	37	3	97887798	97887798	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr3:97887798C>A	ENST00000356526.2	+	1	255	c.255C>A	c.(253-255)ttC>ttA	p.F85L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F85L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TGAATAACTTCTTAGCTAAGA	0.393																																						uc011bgu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(253-255)TTC>TTA		olfactory receptor, family 5, subfamily H,							93.0	96.0	95.0					3																	97887798		2203	4295	6498	SO:0001583	missense	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887798C>A		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.255C>A	3.37:g.97887798C>A	ENSP00000373195:p.Phe85Leu						p.F85L	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	255	+			85			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000356526.2	37	c.255C>A	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	1.562	-0.536502	0.04082	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.00912	5.55	2.48	-4.96	0.03038	GPCR, rhodopsin-like superfamily (1);	0.702910	0.12416	N	0.470837	T	0.00524	0.0017	N	0.05467	-0.045	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.42241	-0.9463	10	0.28530	T	0.3	.	5.2128	0.15327	0.0:0.1941:0.4408:0.3651	.	85	A6NDH6	O5H15_HUMAN	L	85	ENSP00000373195:F85L	ENSP00000373195:F85L	F	+	3	2	OR5H15	99370488	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.106000	0.01338	-1.694000	0.01425	0.184000	0.17185	TTC		PASS	0.393	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			12	121	12	121	---	---	---	---
ST3GAL6	10402	broad.mit.edu	37	3	98487337	98487337	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr3:98487337T>A	ENST00000483910.1	+	2	342	c.53T>A	c.(52-54)gTa>gAa	p.V18E	ST3GAL6_ENST00000265261.6_5'UTR|ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000468553.1_Missense_Mutation_p.V18E|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.V18E	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	18					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)	p.V18E(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						CTCTATTATGTACTGCATTGC	0.393																																						uc003dsz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(52-54)GTA>GAA		alpha2,3-sialyltransferase VI							253.0	233.0	240.0					3																	98487337		2203	4300	6503	SO:0001583	missense	10402				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	g.chr3:98487337T>A	AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.53T>A	3.37:g.98487337T>A	ENSP00000417376:p.Val18Glu					ST3GAL6_uc003dsy.2_5'UTR|ST3GAL6_uc003dta.2_5'UTR|ST3GAL6_uc003dtb.2_Intron|ST3GAL6_uc003dtc.2_Missense_Mutation_p.V18E|ST3GAL6_uc010hpd.2_Missense_Mutation_p.V71E	p.V18E	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN			2	289	+			18			Helical; Signal-anchor for type II membrane protein; (Potential).		B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	c.53T>A	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.704004	0.68501	.	.	ENSG00000064225	ENST00000483910;ENST00000460774;ENST00000497008;ENST00000486334;ENST00000394162;ENST00000468553;ENST00000485391;ENST00000492254	T;T;T;T	0.55760	0.65;0.63;0.65;0.5	6.06	4.9	0.64082	.	0.361557	0.24398	N	0.038872	T	0.44561	0.1299	L	0.27053	0.805	0.80722	D	1	D;D	0.56521	0.976;0.976	P;P	0.47864	0.559;0.559	T	0.44190	-0.9344	10	0.72032	D	0.01	-6.9906	8.8633	0.35272	0.0:0.084:0.0:0.916	.	41;18	C9J480;Q9Y274	.;SIA10_HUMAN	E	18;18;18;18;18;18;18;41	ENSP00000417376:V18E;ENSP00000418896:V18E;ENSP00000377717:V18E;ENSP00000417201:V41E	ENSP00000377717:V18E	V	+	2	0	ST3GAL6	99970027	0.987000	0.35691	0.997000	0.53966	0.979000	0.70002	2.530000	0.45641	1.110000	0.41699	0.533000	0.62120	GTA		PASS	0.393	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100		16	93	16	93	---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129281766	129281766	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr3:129281766C>A	ENST00000324093.4	-	27	4867	c.4689G>T	c.(4687-4689)caG>caT	p.Q1563H	PLXND1_ENST00000393239.1_Missense_Mutation_p.Q1563H	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1563					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.Q1563H(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGCCACAGCCCTGGAAGGACA	0.597																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(4687-4689)CAG>CAT		plexin D1 precursor							75.0	62.0	67.0					3																	129281766		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129281766C>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4689G>T	3.37:g.129281766C>A	ENSP00000317128:p.Gln1563His					PLXND1_uc011blb.1_Missense_Mutation_p.Q231H	p.Q1563H	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			27	4789	-			1563			Cytoplasmic (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.4689G>T	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665941	0.47677	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.12465	2.68;2.68	5.38	1.59	0.23543	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.155436	0.43919	D	0.000505	T	0.20740	0.0499	L	0.41356	1.27	0.58432	D	0.999999	D;D	0.64830	0.972;0.994	P;D	0.64144	0.679;0.922	T	0.01309	-1.1389	10	0.66056	D	0.02	.	6.8278	0.23893	0.0:0.4735:0.0:0.5265	.	158;1563	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	H	1563	ENSP00000317128:Q1563H;ENSP00000376931:Q1563H	ENSP00000317128:Q1563H	Q	-	3	2	PLXND1	130764456	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	2.319000	0.43788	0.664000	0.31047	0.561000	0.74099	CAG		PASS	0.597	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		3	23	3	23	---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129284822	129284822	+	Silent	SNP	A	A	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr3:129284822A>T	ENST00000324093.4	-	24	4408	c.4230T>A	c.(4228-4230)atT>atA	p.I1410I	PLXND1_ENST00000393239.1_Silent_p.I1410I	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1410					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.I1410I(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGAACAAGCTAATTCCCTCTT	0.567																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(4228-4230)ATT>ATA		plexin D1 precursor							130.0	112.0	118.0					3																	129284822		2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129284822A>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4230T>A	3.37:g.129284822A>T						PLXND1_uc011blb.1_Silent_p.I78I	p.I1410I	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			24	4330	-			1410			Cytoplasmic (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.4230T>A	CCDS33854.1																																																																																				PASS	0.567	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		5	25	5	25	---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129290106	129290106	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr3:129290106G>A	ENST00000324093.4	-	18	3555	c.3377C>T	c.(3376-3378)tCc>tTc	p.S1126F	PLXND1_ENST00000393239.1_Missense_Mutation_p.S1126F	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1126	IPT/TIG 3.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.S1126F(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGCCCCGGGGGACGGGCAGGT	0.647																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(3376-3378)TCC>TTC		plexin D1 precursor							25.0	30.0	28.0					3																	129290106		2196	4293	6489	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129290106G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3377C>T	3.37:g.129290106G>A	ENSP00000317128:p.Ser1126Phe						p.S1126F	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			18	3477	-			1126			Extracellular (Potential).|IPT/TIG 3.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.3377C>T	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479717	0.63849	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.77877	-1.13;-1.13	4.91	4.91	0.64330	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.277482	0.26418	N	0.024494	D	0.84826	0.5558	M	0.76938	2.355	0.58432	D	0.999999	P	0.47484	0.896	P	0.53006	0.715	D	0.87399	0.2368	10	0.87932	D	0	.	16.2882	0.82736	0.0:0.0:1.0:0.0	.	1126	Q9Y4D7	PLXD1_HUMAN	F	1126	ENSP00000317128:S1126F;ENSP00000376931:S1126F	ENSP00000317128:S1126F	S	-	2	0	PLXND1	130772796	1.000000	0.71417	0.102000	0.21198	0.301000	0.27625	5.814000	0.69208	2.279000	0.76181	0.313000	0.20887	TCC		PASS	0.647	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		13	21	13	21	---	---	---	---
COL6A5	256076	broad.mit.edu	37	3	130189746	130189746	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr3:130189746G>A	ENST00000432398.2	+	39	8003	c.7509G>A	c.(7507-7509)atG>atA	p.M2503I	COL6A5_ENST00000265379.6_Missense_Mutation_p.M2503I	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2503	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.M2503I(1)|p.M542I(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCGAAGATATGAAAGCCACAT	0.433																																						uc010htj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(7507-7509)ATG>ATA		collagen, type XXIX, alpha 1							88.0	86.0	86.0					3																	130189746		1898	4124	6022	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130189746G>A	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7509G>A	3.37:g.130189746G>A	ENSP00000390895:p.Met2503Ile					COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.M542I	p.M2503I	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			39	8003	+			2503			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.7509G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.442|2.442	-0.328477|-0.328477	0.05314|0.05314	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000512836|ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	.|D;D;T;T	.|0.88277	.|-2.28;-2.36;-0.76;-0.61	5.35|5.35	2.34|2.34	0.29019|0.29019	.|.	.|1.024750	.|0.07821	.|N	.|0.959732	T|T	0.78559|0.78559	0.4302|0.4302	N|N	0.25647|0.25647	0.755|0.755	0.09310|0.09310	N|N	1|1	.|B;B	.|0.10296	.|0.002;0.003	.|B;B	.|0.14023	.|0.004;0.01	T|T	0.62647|0.62647	-0.6810|-0.6810	5|10	.|0.14252	.|T	.|0.57	.|.	2.9993|2.9993	0.06009|0.06009	0.099:0.1626:0.5479:0.1904|0.099:0.1626:0.5479:0.1904	.|.	.|2503;2503	.|A8TX70;A8TX70-2	.|CO6A5_HUMAN;.	K|I	755|2503;2503;446;338	.|ENSP00000390895:M2503I;ENSP00000265379:M2503I;ENSP00000362250:M446I;ENSP00000424968:M338I	.|ENSP00000265379:M2503I	E|M	+|+	1|3	0|0	COL6A5|COL6A5	131672436|131672436	0.861000|0.861000	0.29849|0.29849	0.225000|0.225000	0.23894|0.23894	0.104000|0.104000	0.19210|0.19210	1.950000|1.950000	0.40323|0.40323	1.260000|1.260000	0.44134|0.44134	0.655000|0.655000	0.94253|0.94253	GAA|ATG		PASS	0.433	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		4	17	4	17	---	---	---	---
SAMD7	344658	broad.mit.edu	37	3	169644912	169644912	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr3:169644912G>T	ENST00000428432.2	+	6	1251	c.862G>T	c.(862-864)Gca>Tca	p.A288S	SAMD7_ENST00000335556.3_Missense_Mutation_p.A288S	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	288								p.A288S(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GCAGATTTTTGCAACCTGTGA	0.557																																						uc003fgd.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(862-864)GCA>TCA		sterile alpha motif domain containing 7							52.0	52.0	52.0					3																	169644912		2203	4300	6503	SO:0001583	missense	344658							g.chr3:169644912G>T	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.862G>T	3.37:g.169644912G>T	ENSP00000391299:p.Ala288Ser					SAMD7_uc003fge.2_Missense_Mutation_p.A288S|SAMD7_uc011bpo.1_Missense_Mutation_p.A189S	p.A288S	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		6	1129	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		288						Missense_Mutation	SNP	ENST00000428432.2	37	c.862G>T	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	G	8.386	0.838646	0.16891	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.43688	0.94;0.94	6.16	5.12	0.69794	.	0.520963	0.20820	N	0.085094	T	0.29288	0.0729	L	0.44542	1.39	0.09310	N	1	B	0.29988	0.264	B	0.26693	0.072	T	0.15292	-1.0442	10	0.11794	T	0.64	-6.4648	8.1165	0.30946	0.1371:0.0:0.719:0.1439	.	288	Q7Z3H4	SAMD7_HUMAN	S	288	ENSP00000391299:A288S;ENSP00000334668:A288S	ENSP00000334668:A288S	A	+	1	0	SAMD7	171127606	0.004000	0.15560	0.396000	0.26296	0.007000	0.05969	0.414000	0.21164	2.937000	0.99478	0.650000	0.86243	GCA		PASS	0.557	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		10	106	10	106	---	---	---	---
SPATA16	83893	broad.mit.edu	37	3	172634157	172634157	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr3:172634157G>T	ENST00000351008.3	-	9	1636	c.1453C>A	c.(1453-1455)Cta>Ata	p.L485I		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	485					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.L485I(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			ATGGTTGCTAGCTCTGCCATT	0.473																																						uc003fin.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1453-1455)CTA>ATA		spermatogenesis associated 16							233.0	215.0	221.0					3																	172634157		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172634157G>T	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1453C>A	3.37:g.172634157G>T	ENSP00000341765:p.Leu485Ile						p.L485I	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		9	1611	-	Ovarian(172;0.00319)|Breast(254;0.197)		485					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.1453C>A	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715323	0.68844	.	.	ENSG00000144962	ENST00000351008	T	0.25414	1.8	6.17	4.33	0.51752	.	0.000000	0.53938	D	0.000050	T	0.38108	0.1028	L	0.32530	0.975	0.28858	N	0.895669	D	0.89917	1.0	D	0.83275	0.996	T	0.17684	-1.0361	10	0.87932	D	0	-9.7557	11.6214	0.51119	0.148:0.0:0.852:0.0	.	485	Q9BXB7	SPT16_HUMAN	I	485	ENSP00000341765:L485I	ENSP00000341765:L485I	L	-	1	2	SPATA16	174116851	1.000000	0.71417	0.993000	0.49108	0.791000	0.44710	4.285000	0.58989	1.561000	0.49584	0.655000	0.94253	CTA		PASS	0.473	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		60	371	60	371	---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183490318	183490318	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr3:183490318G>T	ENST00000305135.5	+	16	2368	c.2173G>T	c.(2173-2175)Gct>Tct	p.A725S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	725					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.A725S(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGTTACTGCCGCTGGTCCTCA	0.507																																						uc003fly.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(2173-2175)GCT>TCT		YEATS domain containing 2							52.0	51.0	51.0					3																	183490318		1938	4142	6080	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183490318G>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2173G>T	3.37:g.183490318G>T	ENSP00000306983:p.Ala725Ser						p.A725S	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		16	2368	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		725					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.2173G>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600550	0.28534	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.23950	1.88	5.48	0.406	0.16366	.	0.438206	0.23627	N	0.046170	T	0.12774	0.0310	N	0.19112	0.55	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.14727	-1.0462	10	0.46703	T	0.11	-6.9384	4.3958	0.11362	0.3145:0.0:0.4423:0.2432	.	725	Q9ULM3	YETS2_HUMAN	S	725	ENSP00000306983:A725S	ENSP00000306983:A725S	A	+	1	0	YEATS2	184973012	0.280000	0.24249	0.029000	0.17559	0.948000	0.59901	0.671000	0.25172	0.012000	0.14892	0.467000	0.42956	GCT		PASS	0.507	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		42	25	42	25	---	---	---	---
ACAP2	23527	broad.mit.edu	37	3	195027282	195027282	+	Silent	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr3:195027282G>T	ENST00000326793.6	-	13	1304	c.1074C>A	c.(1072-1074)acC>acA	p.T358T		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	358	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.T358T(1)		cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TAGCAATACTGGTCTGAACAG	0.383																																						uc003fun.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1072-1074)ACC>ACA		centaurin, beta 2							180.0	182.0	181.0					3																	195027282		2203	4300	6503	SO:0001819	synonymous_variant	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195027282G>T		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1074C>A	3.37:g.195027282G>T							p.T358T	NM_012287	NP_036419	Q15057	ACAP2_HUMAN			13	1315	-			358			PH.		A8K2V4|Q8N5Z8|Q9UQR3	Silent	SNP	ENST00000326793.6	37	c.1074C>A	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	G	9.726	1.160905	0.21538	.	.	ENSG00000114331	ENST00000439758	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.74642	0.3743	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72997	-0.4121	4	.	.	.	.	18.484	0.90821	0.0:0.0:1.0:0.0	.	.	.	.	K	233	.	.	Q	-	1	0	ACAP2	196508571	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.915000	0.56409	2.593000	0.87608	0.511000	0.50034	CAG		PASS	0.383	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		25	298	25	298	---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3432376	3432376	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr4:3432376A>C	ENST00000344733.5	+	17	4712	c.3808A>C	c.(3808-3810)Agc>Cgc	p.S1270R	RGS12_ENST00000336727.3_Missense_Mutation_p.S1270R|RGS12_ENST00000382788.3_Missense_Mutation_p.S1270R|RGS12_ENST00000338806.4_Missense_Mutation_p.S622R|RGS12_ENST00000538395.1_3'UTR	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1270					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.S1270R(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGCAGCGACAGCCCGTCCAC	0.706																																						uc003ggw.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3808-3810)AGC>CGC		regulator of G-protein signalling 12 isoform 1							14.0	15.0	14.0					4																	3432376		2183	4287	6470	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3432376A>C	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3808A>C	4.37:g.3432376A>C	ENSP00000339381:p.Ser1270Arg					RGS12_uc003ggv.2_Missense_Mutation_p.S1270R|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.2_Missense_Mutation_p.S622R|RGS12_uc011bvs.1_3'UTR|RGS12_uc003gha.2_Missense_Mutation_p.S612R|RGS12_uc010icv.2_Missense_Mutation_p.S469R	p.S1270R	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	17	4712	+			1270					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.3808A>C	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.241632	0.39598	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000338806	T;T;T;T	0.35605	1.58;1.58;1.58;1.3	3.86	1.96	0.26148	.	0.710016	0.13616	N	0.374774	T	0.27063	0.0663	L	0.31926	0.97	0.18873	N	0.999986	P;P;B;B	0.46912	0.813;0.886;0.003;0.013	P;P;B;B	0.45712	0.468;0.491;0.005;0.014	T	0.11012	-1.0605	10	0.15952	T	0.53	-29.4447	6.6966	0.23203	0.8227:0.0:0.1773:0.0	.	612;622;1270;1270	O14924-2;O14924-3;O14924;O14924-4	.;.;RGS12_HUMAN;.	R	1270;1270;1270;622	ENSP00000339381:S1270R;ENSP00000338509:S1270R;ENSP00000372238:S1270R;ENSP00000342133:S622R	ENSP00000338509:S1270R	S	+	1	0	RGS12	3402174	0.260000	0.24053	0.005000	0.12908	0.195000	0.23768	0.914000	0.28624	0.115000	0.18071	0.533000	0.62120	AGC		PASS	0.706	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		10	3	10	3	---	---	---	---
SORCS2	57537	broad.mit.edu	37	4	7727000	7727000	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr4:7727000G>A	ENST00000507866.2	+	20	2840	c.2731G>A	c.(2731-2733)Ggc>Agc	p.G911S	SORCS2_ENST00000329016.9_Missense_Mutation_p.G739S	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	911					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.G761S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CTGGTGGATCGGCCACAGCCT	0.607																																						uc003gkb.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2731-2733)GGC>AGC		VPS10 domain receptor protein SORCS 2 precursor							54.0	58.0	56.0					4																	7727000		2027	4191	6218	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7727000G>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2731G>A	4.37:g.7727000G>A	ENSP00000422185:p.Gly911Ser					SORCS2_uc011bwi.1_Missense_Mutation_p.G739S	p.G911S	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN			20	2731	+			911			Lumenal (Potential).		Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.2731G>A	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464856	0.43839	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.16196	2.36;2.41	3.61	2.76	0.32466	.	0.161907	0.40640	U	0.001060	T	0.38585	0.1046	M	0.76170	2.325	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.14671	-1.0464	10	0.72032	D	0.01	.	10.7557	0.46234	0.0967:0.0:0.9033:0.0	.	739;911	B5MED8;Q96PQ0	.;SORC2_HUMAN	S	911;739	ENSP00000422185:G911S;ENSP00000329124:G739S	ENSP00000329124:G739S	G	+	1	0	SORCS2	7777900	1.000000	0.71417	0.993000	0.49108	0.036000	0.12997	6.704000	0.74639	0.505000	0.28104	-0.397000	0.06425	GGC		PASS	0.607	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		18	8	18	8	---	---	---	---
SEPSECS	51091	broad.mit.edu	37	4	25160666	25160666	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr4:25160666T>A	ENST00000382103.2	-	2	250	c.178A>T	c.(178-180)Atc>Ttc	p.I60F	SEPSECS_ENST00000302922.3_Intron|PI4K2B_ENST00000512921.1_5'Flank	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	60					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)	p.I60F(1)		endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				CTGTCCATGATTGCAAGTTCA	0.388																																						uc003grg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)ATC>TTC		Sep (O-phosphoserine) tRNA:Sec (selenocysteine)	Pyridoxal Phosphate(DB00114)						147.0	148.0	148.0					4																	25160666		1904	4130	6034	SO:0001583	missense	51091				selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding	g.chr4:25160666T>A	AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"""soluble liver antigen/liver pancreas antigen"""	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.178A>T	4.37:g.25160666T>A	ENSP00000371535:p.Ile60Phe					uc003grj.2_5'Flank|PI4K2B_uc011bxs.1_5'Flank|SEPSECS_uc003gri.2_Missense_Mutation_p.I59F|SEPSECS_uc003grh.2_Intron	p.I60F	NM_153825	NP_722547	Q9HD40	SPCS_HUMAN			2	391	-		Breast(46;0.173)	60					A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Missense_Mutation	SNP	ENST00000382103.2	37	c.178A>T	CCDS3432.2	.	.	.	.	.	.	.	.	.	.	T	16.33	3.092505	0.55968	.	.	ENSG00000109618	ENST00000382103;ENST00000513285	T;T	0.76709	-1.04;-1.04	5.71	0.466	0.16716	Pyridoxal phosphate-dependent transferase, major domain (1);	0.249250	0.39909	N	0.001227	T	0.59959	0.2232	N	0.22421	0.69	0.80722	D	1	B;B	0.26975	0.165;0.029	B;B	0.24974	0.057;0.003	T	0.42565	-0.9444	10	0.29301	T	0.29	-9.8897	9.4102	0.38487	0.0:0.3505:0.0:0.6495	.	59;60	Q9HD40-3;Q9HD40	.;SPCS_HUMAN	F	60;145	ENSP00000371535:I60F;ENSP00000423361:I145F	ENSP00000371535:I60F	I	-	1	0	SEPSECS	24769764	0.628000	0.27138	0.151000	0.22473	0.983000	0.72400	1.076000	0.30729	-0.148000	0.11234	0.528000	0.53228	ATC		PASS	0.388	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955		42	20	42	20	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96222807	96222807	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr4:96222807C>T	ENST00000453304.1	-	3	788	c.440G>A	c.(439-441)tGg>tAg	p.W147*	UNC5C_ENST00000506749.1_Nonsense_Mutation_p.W147*|UNC5C_ENST00000504962.1_Nonsense_Mutation_p.W147*	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	147	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.W147*(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CGCGGAGCTCCAGGCCACACA	0.507																																						uc003htp.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(439-441)TGG>TAG		unc5C precursor							95.0	79.0	85.0					4																	96222807		2203	4300	6503	SO:0001587	stop_gained	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96222807C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.440G>A	4.37:g.96222807C>T	ENSP00000406022:p.Trp147*					UNC5C_uc010ilc.1_Nonsense_Mutation_p.W147*|UNC5C_uc003htq.2_Nonsense_Mutation_p.W147*	p.W147*	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	3	594	-		Hepatocellular(203;0.114)	147			Extracellular (Potential).|Ig-like.		Q8IUT0	Nonsense_Mutation	SNP	ENST00000453304.1	37	c.440G>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	41	8.638988	0.98895	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5525	0.95326	0.0:1.0:0.0:0.0	.	.	.	.	X	147;106;147;147;147	.	ENSP00000328673:W106X	W	-	2	0	UNC5C	96441830	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.755000	0.85180	2.626000	0.88956	0.650000	0.86243	TGG		PASS	0.507	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		34	21	34	21	---	---	---	---
EGF	1950	broad.mit.edu	37	4	110915996	110915996	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr4:110915996G>T	ENST00000265171.5	+	20	3410	c.2965G>T	c.(2965-2967)Gtg>Ttg	p.V989L	RNU6-35P_ENST00000384530.1_RNA|EGF_ENST00000509793.1_Missense_Mutation_p.V947L|EGF_ENST00000503392.1_Missense_Mutation_p.V948L	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	989	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.V989L(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CCATGATGGTGTGTGCATGTA	0.468																																						uc003hzy.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(2965-2967)GTG>TTG		epidermal growth factor precursor	Sulindac(DB00605)						168.0	132.0	144.0					4																	110915996		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110915996G>T	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2965G>T	4.37:g.110915996G>T	ENSP00000265171:p.Val989Leu					EGF_uc011cfu.1_Missense_Mutation_p.V947L|EGF_uc011cfv.1_Missense_Mutation_p.V948L|EGF_uc010imk.2_Missense_Mutation_p.V137L	p.V989L	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	20	3417	+		Hepatocellular(203;0.0893)	989			EGF-like 9.|Extracellular (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.2965G>T	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846911	0.51164	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;T;T	0.13420	2.59;2.59;2.59	5.22	0.487	0.16842	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.741596	0.12865	N	0.432836	T	0.13030	0.0316	L	0.59912	1.85	0.35276	D	0.780927	B;B;B	0.26400	0.148;0.122;0.089	B;B;B	0.28709	0.093;0.056;0.093	T	0.11991	-1.0565	10	0.37606	T	0.19	.	5.5075	0.16862	0.3284:0.1579:0.5137:0.0	.	948;947;989	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	L	947;989;948	ENSP00000424316:V947L;ENSP00000265171:V989L;ENSP00000421384:V948L	ENSP00000265171:V989L	V	+	1	0	EGF	111135445	0.004000	0.15560	0.039000	0.18376	0.467000	0.32768	0.109000	0.15417	0.213000	0.20722	0.563000	0.77884	GTG		PASS	0.468	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			17	26	17	26	---	---	---	---
CAPSL	133690	broad.mit.edu	37	5	35910625	35910626	+	Missense_Mutation	DNP	TC	TC	CA			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr5:35910625_35910626TC>CA	ENST00000397367.2	-	3	283_284	c.157_158GA>TG	c.(157-159)GAc>TGc	p.D53C	CAPSL_ENST00000397366.1_Missense_Mutation_p.D53C|CAPSL_ENST00000514524.1_Missense_Mutation_p.D53C	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	53	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.D53G(2)|p.D53Y(2)|p.D53C(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			ATTATTATCGTCATCCATAATT	0.317																																						uc003jjt.1																			6	Substitution - Missense(6)		lung(6)	skin(1)	1						c.(157-159)GAC>GGC|c.(157-159)GAC>TAC		calcyphosine-like																																				SO:0001583	missense	133690					cytoplasm	calcium ion binding	g.chr5:35910625T>C|g.chr5:35910626C>A	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.157_158delinsCA	5.37:g.35910625_35910626delinsCA	ENSP00000380524:p.Asp53Cys					CAPSL_uc003jju.1_Missense_Mutation_p.D53G|CAPSL_uc003jju.1_Missense_Mutation_p.D53Y	p.D53G|p.D53Y	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		3	253|252	-	all_lung(31;0.000268)		53			EF-hand 1.|1 (Potential).			Missense_Mutation	SNP	ENST00000397367.2	37	c.158A>G|c.157G>T	CCDS3912.2																																																																																				PASS	0.317	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		14|13	58|56	13	56	---	---	---	---
CENPK	64105	broad.mit.edu	37	5	64850711	64850711	+	Silent	SNP	C	C	A	rs75497175	byFrequency	TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr5:64850711C>A	ENST00000396679.1	-	3	238	c.24G>T	c.(22-24)ccG>ccT	p.P8P	CENPK_ENST00000514814.1_Silent_p.P8P|CENPK_ENST00000506282.2_Intron|CENPK_ENST00000510354.1_Silent_p.P8P|CENPK_ENST00000510693.1_5'UTR|CENPK_ENST00000508421.1_5'UTR|CENPK_ENST00000242872.3_Silent_p.P8P	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	8					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)		p.P8P(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		TAGTACTATCCGGATCTAGAT	0.308																																						uc003jts.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(22-24)CCG>CCT		SoxLZ/Sox6 leucine zipper binding protein							199.0	204.0	203.0					5																	64850711		2203	4298	6501	SO:0001819	synonymous_variant	64105				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr5:64850711C>A	BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.24G>T	5.37:g.64850711C>A						CENPK_uc003jtt.2_5'UTR|CENPK_uc003jtu.2_Silent_p.P8P	p.P8P	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN		Lung(70;0.00466)	3	236	-		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	8					Q9H4L0	Silent	SNP	ENST00000396679.1	37	c.24G>T	CCDS3984.1																																																																																				PASS	0.308	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253971.2	NM_022145		40	63	40	63	---	---	---	---
SV2C	22987	broad.mit.edu	37	5	75427860	75427860	+	Silent	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr5:75427860C>T	ENST00000502798.2	+	2	727	c.285C>T	c.(283-285)ggC>ggT	p.G95G	SV2C_ENST00000322285.7_Silent_p.G95G	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	95					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.G95G(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AGTATCAGGGCATCCCCAGTA	0.542																																						uc003kei.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(283-285)GGC>GGT		synaptic vesicle glycoprotein 2C							78.0	83.0	81.0					5																	75427860		2120	4263	6383	SO:0001819	synonymous_variant	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75427860C>T	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.285C>T	5.37:g.75427860C>T							p.G95G	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	2	419	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	95			Cytoplasmic (Potential).		Q496K1|Q9UPU8	Silent	SNP	ENST00000502798.2	37	c.285C>T	CCDS43331.1																																																																																				PASS	0.542	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			4	6	4	6	---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80363979	80363979	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr5:80363979T>C	ENST00000265080.4	+	3	591	c.524T>C	c.(523-525)aTc>aCc	p.I175T		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	175					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I175T(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GACACAGAAATCGAAAGGCTT	0.383																																						uc003kha.1																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(523-525)ATC>ACC		Ras protein-specific guanine							128.0	122.0	124.0					5																	80363979		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80363979T>C	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.524T>C	5.37:g.80363979T>C	ENSP00000265080:p.Ile175Thr					RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_5'Flank	p.I175T	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	3	524	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	175			Potential.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.524T>C	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427955	0.83667	.	.	ENSG00000113319	ENST00000265080	T	0.47528	0.84	5.91	5.91	0.95273	.	0.046027	0.85682	D	0.000000	T	0.66499	0.2795	M	0.61703	1.905	0.58432	D	0.999998	D	0.89917	1.0	D	0.71656	0.974	T	0.69269	-0.5189	10	0.87932	D	0	.	16.3378	0.83071	0.0:0.0:0.0:1.0	.	175	O14827	RGRF2_HUMAN	T	175	ENSP00000265080:I175T	ENSP00000265080:I175T	I	+	2	0	RASGRF2	80399735	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	8.036000	0.88901	2.255000	0.74692	0.533000	0.62120	ATC		PASS	0.383	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		24	22	24	22	---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86679553	86679553	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr5:86679553T>A	ENST00000274376.6	+	21	3278	c.2714T>A	c.(2713-2715)aTc>aAc	p.I905N	RASA1_ENST00000512763.1_Missense_Mutation_p.I738N|RASA1_ENST00000456692.2_Missense_Mutation_p.I728N|RASA1_ENST00000506290.1_Missense_Mutation_p.I739N	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	905	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.I728N(1)|p.I905N(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTTCGACTCATCTGTCCTGCC	0.284																																						uc003kiw.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(2713-2715)ATC>AAC		RAS p21 protein activator 1 isoform 1							78.0	72.0	74.0					5																	86679553		2203	4300	6503	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86679553T>A		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2714T>A	5.37:g.86679553T>A	ENSP00000274376:p.Ile905Asn					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.I728N|RASA1_uc011ctv.1_Missense_Mutation_p.I738N|RASA1_uc011ctw.1_Missense_Mutation_p.I739N|RASA1_uc010jaw.2_Missense_Mutation_p.I727N	p.I905N	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	21	2832	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	905			Ras-GAP.		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.2714T>A	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.762757	0.69763	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.86	5.86	0.93980	Ras GTPase-activating protein, conserved site (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.33962	0.0881	M	0.81942	2.565	0.80722	D	1	B;B;B;B;B	0.31077	0.079;0.307;0.079;0.031;0.115	B;B;B;B;B	0.34652	0.058;0.187;0.058;0.025;0.061	T	0.17561	-1.0365	10	0.87932	D	0	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	739;738;739;728;905	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	N	905;728;738;739	ENSP00000274376:I905N;ENSP00000411221:I728N;ENSP00000422008:I738N;ENSP00000420905:I739N	ENSP00000274376:I905N	I	+	2	0	RASA1	86715309	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.954000	0.87848	2.367000	0.80283	0.528000	0.53228	ATC		PASS	0.284	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		16	13	16	13	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113831669	113831670	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr5:113831669_113831670GG>TT	ENST00000512097.3	+	9	2548_2549	c.1530_1531GG>TT	c.(1528-1533)ctGGaa>ctTTaa	p.E511*	KCNN2_ENST00000503706.1_Nonsense_Mutation_p.E163*|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000264773.3_Nonsense_Mutation_p.E511*			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	511					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.E163*(2)|p.E511*(2)|p.L162L(1)|p.L510L(1)		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)	TTGTTACCCTGGAAACAAAACT	0.441																																						uc003kqo.2																			6	Substitution - Nonsense(4)|Substitution - coding silent(2)		lung(6)	ovary(2)	2						c.(1528-1530)CTG>CTT|c.(1531-1533)GAA>TAA		small conductance calcium-activated potassium																																				SO:0001587	stop_gained	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113831669G>T|g.chr5:113831670G>T	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	Exception_encountered	5.37:g.113831669_113831670delinsTT	ENSP00000427120:p.Glu511*					KCNN2_uc003kqp.2_Silent_p.L162L|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron|KCNN2_uc003kqp.2_Nonsense_Mutation_p.E163*|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	p.L510L|p.E511*	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)	8	1987|1988	+		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)	510|511					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent|Nonsense_Mutation	SNP	ENST00000512097.3	37	c.1530G>T|c.1531G>T	CCDS4114.1																																																																																				PASS	0.441	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		27|28	54|51	27	51	---	---	---	---
PCDHB10	56126	broad.mit.edu	37	5	140572876	140572876	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr5:140572876G>A	ENST00000239446.4	+	1	935	c.751G>A	c.(751-753)Gct>Act	p.A251T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	251	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A251T(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGACCCAGGCTCCAGAAAA	0.498																																						uc003lix.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(751-753)GCT>ACT		protocadherin beta 10 precursor							60.0	64.0	63.0					5																	140572876		2203	4300	6503	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572876G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.751G>A	5.37:g.140572876G>A	ENSP00000239446:p.Ala251Thr						p.A251T	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	925	+			251			Extracellular (Potential).|Cadherin 3.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.751G>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	3.292	-0.144735	0.06627	.	.	ENSG00000120324	ENST00000239446	T	0.51817	0.69	3.41	0.582	0.17412	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.27697	0.0681	N	0.16656	0.425	0.09310	N	1	B	0.12013	0.005	B	0.15484	0.013	T	0.23332	-1.0191	9	0.72032	D	0.01	.	3.9579	0.09398	0.3894:0.0:0.4465:0.1642	.	251	Q9UN67	PCDBA_HUMAN	T	251	ENSP00000239446:A251T	ENSP00000239446:A251T	A	+	1	0	PCDHB10	140553060	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-2.698000	0.00826	0.284000	0.22305	-0.265000	0.10407	GCT		PASS	0.498	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		22	21	22	21	---	---	---	---
ATF6B	1388	broad.mit.edu	37	6	32085724	32085724	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr6:32085724C>A	ENST00000375203.3	-	12	1368	c.1336G>T	c.(1336-1338)Gag>Tag	p.E446*	ATF6B_ENST00000375201.4_Nonsense_Mutation_p.E443*	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	446					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E446*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TGAACTGGCTCTTGCTCTGAG	0.607																																						uc003nzn.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1336-1338)GAG>TAG		activating transcription factor 6 beta isoform							50.0	51.0	51.0					6																	32085724		2203	4300	6503	SO:0001587	stop_gained	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32085724C>A		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.1336G>T	6.37:g.32085724C>A	ENSP00000364349:p.Glu446*					TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_Nonsense_Mutation_p.E19*|ATF6B_uc003nzo.2_Nonsense_Mutation_p.E443*|ATF6B_uc003nzp.1_Nonsense_Mutation_p.E135*	p.E446*	NM_004381	NP_004372	Q99941	ATF6B_HUMAN			12	1369	-			446			Lumenal (Potential).		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Nonsense_Mutation	SNP	ENST00000375203.3	37	c.1336G>T	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297571	0.95574	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	.	.	.	5.35	1.46	0.22682	.	1.210150	0.06214	U	0.685464	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-0.5164	4.1189	0.10095	0.1524:0.468:0.2957:0.0838	.	.	.	.	X	446;443	.	ENSP00000364347:E443X	E	-	1	0	ATF6B	32193702	0.000000	0.05858	0.029000	0.17559	0.530000	0.34684	0.339000	0.19875	0.365000	0.24400	0.655000	0.94253	GAG		PASS	0.607	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			17	15	17	15	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38830132	38830132	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr6:38830132A>G	ENST00000359357.3	+	42	5811	c.5557A>G	c.(5557-5559)Aca>Gca	p.T1853A	DNAH8_ENST00000441566.1_Missense_Mutation_p.T1853A|DNAH8_ENST00000449981.2_Missense_Mutation_p.T2070A			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1853	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T1853A(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACTGGCAAAACAGAAACCAC	0.463																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(5557-5559)ACA>GCA		dynein, axonemal, heavy polypeptide 8							139.0	136.0	137.0					6																	38830132		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38830132A>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5557A>G	6.37:g.38830132A>G	ENSP00000352312:p.Thr1853Ala						p.T1853A	NM_001371	NP_001362					42	6157	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.5557A>G		.	.	.	.	.	.	.	.	.	.	A	30	5.055294	0.93793	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.65364	-0.15;-0.15;-0.15	6.04	6.04	0.98038	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.82898	0.5137	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87862	0.2665	10	0.87932	D	0	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	1853	Q96JB1	DYH8_HUMAN	A	2058;2058;1853;1853	ENSP00000333363:T2058A;ENSP00000352312:T1853A;ENSP00000402294:T1853A	ENSP00000333363:T2058A	T	+	1	0	DNAH8	38938110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.317000	0.78254	0.460000	0.39030	ACA		PASS	0.463	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		41	42	41	42	---	---	---	---
LRFN2	57497	broad.mit.edu	37	6	40360526	40360526	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr6:40360526C>A	ENST00000338305.6	-	3	2068	c.1526G>T	c.(1525-1527)gGc>gTc	p.G509V		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	509	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.G509V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGGGCGCAGCCCACGATGTT	0.597																																						uc003oph.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1525-1527)GGC>GTC		leucine rich repeat and fibronectin type III							70.0	53.0	58.0					6																	40360526		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40360526C>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1526G>T	6.37:g.40360526C>A	ENSP00000345985:p.Gly509Val						p.G509V	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			3	1991	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		509			Fibronectin type-III.|Extracellular (Potential).		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.1526G>T	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	c	23.0	4.367642	0.82463	.	.	ENSG00000156564	ENST00000338305	T	0.67171	-0.25	5.51	5.51	0.81932	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.81341	0.4802	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83824	0.0248	10	0.87932	D	0	.	17.9744	0.89122	0.0:1.0:0.0:0.0	.	509	Q9ULH4	LRFN2_HUMAN	V	509	ENSP00000345985:G509V	ENSP00000345985:G509V	G	-	2	0	LRFN2	40468504	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.709000	0.84645	2.584000	0.87258	0.651000	0.88453	GGC		PASS	0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		9	12	9	12	---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101095150	101095150	+	Nonsense_Mutation	SNP	T	T	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr6:101095150T>A	ENST00000369162.2	-	21	3774	c.3430A>T	c.(3430-3432)Aaa>Taa	p.K1144*		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1144	SEC63 1.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.K1144*(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTAAGCTTTTTTTCTTCTAAT	0.353																																						uc003pqk.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(1)	6						c.(3430-3432)AAA>TAA		activating signal cointegrator 1 complex subunit							112.0	115.0	114.0					6																	101095150		2203	4300	6503	SO:0001587	stop_gained	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101095150T>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.3430A>T	6.37:g.101095150T>A	ENSP00000358159:p.Lys1144*					ASCC3_uc011eai.1_Nonsense_Mutation_p.K1046*	p.K1144*	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	21	3759	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1144			SEC63 1.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Nonsense_Mutation	SNP	ENST00000369162.2	37	c.3430A>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	42	9.725164	0.99248	.	.	ENSG00000112249	ENST00000369162	.	.	.	5.98	5.98	0.97165	.	0.048651	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4622	0.84064	0.0:0.0:0.0:1.0	.	.	.	.	X	1144	.	ENSP00000358159:K1144X	K	-	1	0	ASCC3	101201871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.999000	0.63934	2.289000	0.77006	0.533000	0.62120	AAA		PASS	0.353	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		23	53	23	53	---	---	---	---
AIM1	202	broad.mit.edu	37	6	106992566	106992566	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr6:106992566A>G	ENST00000369066.3	+	10	4423	c.3936A>G	c.(3934-3936)atA>atG	p.I1312M	AIM1_ENST00000487681.1_3'UTR|AIM1_ENST00000535438.1_Missense_Mutation_p.I131M	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.I1312M(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TACGACCTATATTAGGTGTAA	0.383																																						uc003prh.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9						c.(3934-3936)ATA>ATG		absent in melanoma 1							84.0	88.0	87.0					6																	106992566		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106992566A>G	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3936A>G	6.37:g.106992566A>G	ENSP00000358062:p.Ile1312Met					AIM1_uc003pri.2_Missense_Mutation_p.I116M	p.I1312M	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	10	4423	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1312			Beta/gamma crystallin 'Greek key' 6.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.3936A>G	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209724	0.58343	.	.	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	T;T;T	0.79454	-1.27;-1.27;-1.27	5.72	1.9	0.25705	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.352176	0.36893	N	0.002350	T	0.78496	0.4292	M	0.88241	2.94	0.36939	D	0.892277	P;P	0.49307	0.872;0.922	P;P	0.57620	0.675;0.824	T	0.77397	-0.2603	10	0.87932	D	0	.	2.4996	0.04630	0.5045:0.1156:0.073:0.3069	.	131;1312	B4DU04;Q9Y4K1	.;AIM1_HUMAN	M	1312;131;131	ENSP00000358062:I1312M;ENSP00000391419:I131M;ENSP00000439183:I131M	ENSP00000358062:I1312M	I	+	3	3	AIM1	107099259	0.037000	0.19845	1.000000	0.80357	0.993000	0.82548	0.177000	0.16801	0.383000	0.24910	0.459000	0.35465	ATA		PASS	0.383	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			24	55	24	55	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117704610	117704610	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr6:117704610A>G	ENST00000368508.3	-	16	2564	c.2366T>C	c.(2365-2367)gTg>gCg	p.V789A	ROS1_ENST00000368507.3_Missense_Mutation_p.V784A|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	789					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V789A(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CATGTCATTCACCAATAGCTT	0.428			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(2365-2367)GTG>GCG		proto-oncogene c-ros-1 protein precursor							229.0	208.0	215.0					6																	117704610		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117704610A>G	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2366T>C	6.37:g.117704610A>G	ENSP00000357494:p.Val789Ala					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.V789A	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	16	2565	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	789			Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.2366T>C	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354035	0.61293	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91407	-2.84;-2.84	4.57	4.57	0.56435	.	0.000000	0.50627	D	0.000104	D	0.86360	0.5914	N	0.24115	0.695	0.80722	D	1	D	0.67145	0.996	D	0.63192	0.912	D	0.85614	0.1260	10	0.27785	T	0.31	.	12.0165	0.53317	1.0:0.0:0.0:0.0	.	789	P08922	ROS1_HUMAN	A	789;784	ENSP00000357494:V789A;ENSP00000357493:V784A	ENSP00000357493:V784A	V	-	2	0	ROS1	117811303	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.480000	0.73604	1.834000	0.53371	0.533000	0.62120	GTG		PASS	0.428	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			46	107	46	107	---	---	---	---
TMEM200A	114801	broad.mit.edu	37	6	130762050	130762050	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr6:130762050G>C	ENST00000296978.3	+	3	1354	c.483G>C	c.(481-483)agG>agC	p.R161S	TMEM200A_ENST00000545622.1_Missense_Mutation_p.R161S|TMEM200A_ENST00000392429.1_Missense_Mutation_p.R161S	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	161						integral component of membrane (GO:0016021)		p.R161S(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TACACATGAGGGATATCTATT	0.408																																						uc003qca.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(481-483)AGG>AGC		transmembrane protein 200A							95.0	88.0	90.0					6																	130762050		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130762050G>C	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.483G>C	6.37:g.130762050G>C	ENSP00000296978:p.Arg161Ser					TMEM200A_uc010kfh.2_Missense_Mutation_p.R161S|TMEM200A_uc010kfi.2_Missense_Mutation_p.R161S|TMEM200A_uc003qcb.2_Missense_Mutation_p.R161S	p.R161S	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1354	+			161			Cytoplasmic (Potential).		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.483G>C	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505125	0.64410	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.6	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.60919	0.2306	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.68025	-0.5518	9	0.87932	D	0	-15.0724	3.6561	0.08221	0.3453:0.0:0.6547:0.0	.	161	Q86VY9	T200A_HUMAN	S	161	.	ENSP00000296978:R161S	R	+	3	2	TMEM200A	130803743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.678000	0.37586	2.634000	0.89283	0.655000	0.94253	AGG		PASS	0.408	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		16	51	16	51	---	---	---	---
VIP	7432	broad.mit.edu	37	6	153073419	153073419	+	Splice_Site	SNP	G	G	T	rs571729104		TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr6:153073419G>T	ENST00000367244.3	+	2	279	c.107G>T	c.(106-108)aGg>aTg	p.R36M	VIP_ENST00000367243.3_Splice_Site_p.R36M	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	36					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)	p.R36M(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		TCTGCTCTCAGGTAAGTTCCC	0.418																																						uc003qpe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(106-108)AGG>ATG		vasoactive intestinal peptide isoform 1							109.0	93.0	99.0					6																	153073419		2203	4300	6503	SO:0001630	splice_region_variant	7432				body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity	g.chr6:153073419G>T		CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"""Endogenous ligands"""	12693	protein-coding gene	gene with protein product	"""prepro-VIP"""	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.107+1G>T	6.37:g.153073419G>T						VIP_uc003qpf.2_Missense_Mutation_p.R36M|VIP_uc010kjd.2_Missense_Mutation_p.R36M	p.R36M	NM_003381	NP_003372	P01282	VIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)	2	279	+		Ovarian(120;0.0654)	36					Q5TCY8|Q5TCY9|Q96QK3	Missense_Mutation	SNP	ENST00000367244.3	37	c.107G>T	CCDS5240.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057919	0.55325	.	.	ENSG00000146469	ENST00000367244;ENST00000367243	T;T	0.37058	1.22;1.22	5.61	5.61	0.85477	.	0.114976	0.64402	D	0.000014	T	0.38665	0.1049	L	0.34521	1.04	0.49051	D	0.999749	D;D;P	0.64830	0.99;0.994;0.94	P;P;P	0.58873	0.707;0.847;0.643	T	0.26849	-1.0091	10	0.87932	D	0	-11.801	18.4022	0.90520	0.0:0.0:1.0:0.0	.	36;36;36	A8K7E4;P01282-2;P01282	.;.;VIP_HUMAN	M	36	ENSP00000356213:R36M;ENSP00000356212:R36M	ENSP00000356212:R36M	R	+	2	0	VIP	153115112	1.000000	0.71417	0.997000	0.53966	0.022000	0.10575	6.061000	0.71148	2.645000	0.89757	0.585000	0.79938	AGG		PASS	0.418	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042751.1		Missense_Mutation	13	33	13	33	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169623439	169623439	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr6:169623439G>A	ENST00000366787.3	-	19	3154	c.2905C>T	c.(2905-2907)Ccc>Tcc	p.P969S	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	969	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.P969S(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GTCCCTTTGGGATCCAAGGGG	0.502																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(2905-2907)CCC>TCC		thrombospondin 2 precursor							117.0	101.0	107.0					6																	169623439		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169623439G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2905C>T	6.37:g.169623439G>A	ENSP00000355751:p.Pro969Ser						p.P969S	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	19	3153	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	969			TSP C-terminal.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.2905C>T	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669170	0.88348	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.94828	-3.53	4.73	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (1);	0.000000	0.40818	U	0.001001	D	0.97476	0.9174	M	0.88450	2.955	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.98510	1.0618	10	0.87932	D	0	-33.2003	17.7107	0.88321	0.0:0.0:1.0:0.0	.	969	P35442	TSP2_HUMAN	S	969;227	ENSP00000355751:P969S	ENSP00000355751:P969S	P	-	1	0	THBS2	169365364	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.161000	0.94739	2.150000	0.67090	0.471000	0.43371	CCC		PASS	0.502	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		18	53	18	53	---	---	---	---
AOAH	313	broad.mit.edu	37	7	36656025	36656025	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr7:36656025G>T	ENST00000258749.5	-	11	1206	c.807C>A	c.(805-807)caC>caA	p.H269Q	AOAH_ENST00000535891.1_Missense_Mutation_p.H237Q|AOAH_ENST00000431169.1_Missense_Mutation_p.H269Q	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	269					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.H269Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CAGGAGAGATGTGAAAATGAG	0.438																																						uc003tfh.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(805-807)CAC>CAA		acyloxyacyl hydrolase precursor							92.0	80.0	84.0					7																	36656025		2203	4300	6503	SO:0001583	missense	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36656025G>T	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.807C>A	7.37:g.36656025G>T	ENSP00000258749:p.His269Gln					AOAH_uc010kxf.2_Missense_Mutation_p.H269Q|AOAH_uc011kba.1_Missense_Mutation_p.H237Q	p.H269Q	NM_001637	NP_001628	P28039	AOAH_HUMAN			11	1208	-			269					A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	c.807C>A	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198524	0.58126	.	.	ENSG00000136250	ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T	0.77750	1.92;-1.08;-1.12	4.83	3.96	0.45880	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.239382	0.35870	N	0.002925	D	0.85474	0.5705	.	.	.	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.91635	0.995;0.998;0.999	D	0.85048	0.0927	9	0.59425	D	0.04	.	7.339	0.26625	0.1927:0.0:0.8073:0.0	.	237;269;269	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	Q	237;269;269;269	ENSP00000441101:H237Q;ENSP00000258749:H269Q;ENSP00000405683:H269Q	ENSP00000258749:H269Q	H	-	3	2	AOAH	36622550	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.524000	0.35942	1.249000	0.43950	0.655000	0.94253	CAC		PASS	0.438	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		10	14	10	14	---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	77975258	77975258	+	Silent	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr7:77975258C>T	ENST00000354212.4	-	8	1459	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	MAGI2_ENST00000522391.1_Silent_p.L402L|MAGI2_ENST00000535697.1_Silent_p.L239L|MAGI2_ENST00000536571.1_Silent_p.L234L|RPL13AP17_ENST00000450028.1_RNA|MAGI2_ENST00000419488.1_Silent_p.L402L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	402					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.L402L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGGGGCCTGCAGGGGCTTTG	0.443																																						uc003ugx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(1204-1206)CTG>CTA		membrane associated guanylate kinase, WW and PDZ							187.0	180.0	183.0					7																	77975258		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77975258C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1206G>A	7.37:g.77975258C>T						MAGI2_uc003ugy.2_Silent_p.L402L|MAGI2_uc010ldx.1_Silent_p.L11L|MAGI2_uc010ldy.1_Silent_p.L11L|MAGI2_uc011kgr.1_Silent_p.L234L|MAGI2_uc011kgs.1_Silent_p.L239L|RPL13AP17_uc010ldz.2_5'Flank	p.L402L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			8	1460	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	402					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.1206G>A	CCDS5594.1																																																																																				PASS	0.443	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		29	70	29	70	---	---	---	---
C7orf62	219557	broad.mit.edu	37	7	88423638	88423638	+	Silent	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr7:88423638G>A	ENST00000297203.2	-	2	804	c.619C>T	c.(619-621)Cta>Tta	p.L207L	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	207								p.L207L(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GGGAGGAGTAGGTCAGGTGCA	0.408																																						uc003ujv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(619-621)CTA>TTA		hypothetical protein LOC219557							182.0	153.0	163.0					7																	88423638		2203	4300	6503	SO:0001819	synonymous_variant	219557							g.chr7:88423638G>A	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.619C>T	7.37:g.88423638G>A						ZNF804B_uc011khi.1_Intron	p.L207L	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	STAD - Stomach adenocarcinoma(171;0.229)		2	801	-	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		207						Silent	SNP	ENST00000297203.2	37	c.619C>T	CCDS34678.1																																																																																				PASS	0.408	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		45	45	45	45	---	---	---	---
C7orf62	219557	broad.mit.edu	37	7	88423646	88423646	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr7:88423646G>A	ENST00000297203.2	-	2	796	c.611C>T	c.(610-612)gCa>gTa	p.A204V	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	204								p.A204V(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TAGGTCAGGTGCAACTTGGTG	0.403																																						uc003ujv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(610-612)GCA>GTA		hypothetical protein LOC219557							193.0	160.0	171.0					7																	88423646		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88423646G>A	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.611C>T	7.37:g.88423646G>A	ENSP00000297203:p.Ala204Val					ZNF804B_uc011khi.1_Intron	p.A204V	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	STAD - Stomach adenocarcinoma(171;0.229)		2	793	-	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		204						Missense_Mutation	SNP	ENST00000297203.2	37	c.611C>T	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.785838	0.00628	.	.	ENSG00000164645	ENST00000297203	T	0.12984	2.63	6.17	-3.54	0.04653	.	0.941166	0.09054	N	0.855387	T	0.07413	0.0187	N	0.25031	0.7	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.45614	-0.9249	10	0.02654	T	1	-11.7638	12.531	0.56115	0.7489:0.0:0.2511:0.0	.	204	Q8TBZ9	CG062_HUMAN	V	204	ENSP00000297203:A204V	ENSP00000297203:A204V	A	-	2	0	C7orf62	88261582	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.062000	0.11674	-0.534000	0.06315	-0.793000	0.03317	GCA		PASS	0.403	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		45	49	45	49	---	---	---	---
PPP1R9A	55607	broad.mit.edu	37	7	94827677	94827677	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr7:94827677G>T	ENST00000433881.1	+	6	2303	c.1771G>T	c.(1771-1773)Gaa>Taa	p.E591*	PPP1R9A_ENST00000433360.1_Nonsense_Mutation_p.E591*|PPP1R9A_ENST00000289495.5_Nonsense_Mutation_p.E591*|PPP1R9A_ENST00000456331.2_Nonsense_Mutation_p.E591*|PPP1R9A_ENST00000340694.4_Nonsense_Mutation_p.E591*|AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000424654.1_Nonsense_Mutation_p.E591*			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	591	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.E591*(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TATTGGGCGGGAAAAACCAGG	0.448										HNSCC(28;0.073)																												uc003unp.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1771-1773)GAA>TAA		protein phosphatase 1, regulatory (inhibitor)							77.0	78.0	78.0					7																	94827677		2203	4300	6503	SO:0001587	stop_gained	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94827677G>T	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1771G>T	7.37:g.94827677G>T	ENSP00000398870:p.Glu591*	HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Nonsense_Mutation_p.E591*|PPP1R9A_uc011kif.1_Nonsense_Mutation_p.E591*|PPP1R9A_uc003unq.2_Nonsense_Mutation_p.E591*|PPP1R9A_uc011kig.1_Nonsense_Mutation_p.E591*	p.E591*	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		6	2053	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		591			PDZ.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Nonsense_Mutation	SNP	ENST00000433881.1	37	c.1771G>T	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	39	7.571647	0.98365	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0173	0.97481	0.0:0.0:1.0:0.0	.	.	.	.	X	591	.	ENSP00000289495:E591X	E	+	1	0	PPP1R9A	94665613	1.000000	0.71417	0.998000	0.56505	0.038000	0.13279	9.718000	0.98758	2.814000	0.96858	0.591000	0.81541	GAA		PASS	0.448	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		20	30	20	30	---	---	---	---
PNPLA8	50640	broad.mit.edu	37	7	108119674	108119674	+	Silent	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr7:108119674C>T	ENST00000422087.1	-	11	2434	c.2028G>A	c.(2026-2028)ttG>ttA	p.L676L	PNPLA8_ENST00000257694.8_Silent_p.L676L|PNPLA8_ENST00000426128.2_Silent_p.L614L|PNPLA8_ENST00000436062.1_Silent_p.L676L|PNPLA8_ENST00000388728.5_Silent_p.L614L|PNPLA8_ENST00000453144.1_Silent_p.L576L	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	676					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)	p.L676L(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						GTTTAGTTTTCAAGCTTGTGT	0.393																																						uc003vff.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(2026-2028)TTG>TTA		patatin-like phospholipase domain containing 8							192.0	162.0	172.0					7																	108119674		2203	4300	6503	SO:0001819	synonymous_variant	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108119674C>T	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.2028G>A	7.37:g.108119674C>T						PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Silent_p.L676L|PNPLA8_uc003vfi.1_Silent_p.L576L|PNPLA8_uc003vfj.1_Silent_p.L676L|PNPLA8_uc003vfk.1_Silent_p.L576L	p.L676L	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN			11	2435	-			676					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Silent	SNP	ENST00000422087.1	37	c.2028G>A	CCDS34733.1																																																																																				PASS	0.393	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		29	40	29	40	---	---	---	---
WNT2	7472	broad.mit.edu	37	7	116955272	116955272	+	Silent	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr7:116955272G>A	ENST00000265441.3	-	3	740	c.441C>T	c.(439-441)gaC>gaT	p.D147D	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	147					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.D147D(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TGCCTTTGCTGTCCTTGGCGC	0.478																																						uc003viz.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7						c.(439-441)GAC>GAT		wingless-type MMTV integration site family							158.0	142.0	147.0					7																	116955272		2203	4300	6503	SO:0001819	synonymous_variant	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116955272G>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.441C>T	7.37:g.116955272G>A						WNT2_uc003vja.2_Silent_p.D51D	p.D147D	NM_003391	NP_003382	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	3	741	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		147					A4D0V1|Q75N05|Q9UDP9	Silent	SNP	ENST00000265441.3	37	c.441C>T	CCDS5771.1																																																																																				PASS	0.478	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		31	47	31	47	---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154585838	154585838	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr7:154585838G>T	ENST00000377770.3	+	11	1327	c.1186G>T	c.(1186-1188)Gtg>Ttg	p.V396L	DPP6_ENST00000332007.3_Missense_Mutation_p.V334L|DPP6_ENST00000404039.1_Missense_Mutation_p.V332L|DPP6_ENST00000427557.1_Missense_Mutation_p.V289L			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	396					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.V334L(1)|p.V332L(1)|p.V396L(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)			CAAGGTCGCCGTGACCTGGCT	0.647																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|breast(1)	4						c.(1186-1188)GTG>TTG		dipeptidyl-peptidase 6 isoform 1							43.0	50.0	47.0					7																	154585838		2151	4245	6396	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154585838G>T	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.1186G>T	7.37:g.154585838G>T	ENSP00000367001:p.Val396Leu					DPP6_uc003wli.2_Missense_Mutation_p.V332L|DPP6_uc003wlm.2_Missense_Mutation_p.V334L|DPP6_uc011kvq.1_Missense_Mutation_p.V289L	p.V396L	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		11	1315	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	396			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.1186G>T		.	.	.	.	.	.	.	.	.	.	G	24.4	4.526880	0.85706	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	4.21	4.21	0.49690	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.067166	0.64402	D	0.000008	T	0.52821	0.1758	M	0.72353	2.195	0.54753	D	0.999983	D;D;D;D	0.76494	0.999;0.967;0.973;0.973	D;P;P;P	0.72075	0.976;0.566;0.692;0.692	T	0.51196	-0.8736	10	0.26408	T	0.33	-23.0504	16.5503	0.84471	0.0:0.0:1.0:0.0	.	289;334;396;332	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	L	332;396;334;289	ENSP00000385578:V332L;ENSP00000367001:V396L;ENSP00000328226:V334L;ENSP00000397303:V289L	ENSP00000328226:V334L	V	+	1	0	DPP6	154216771	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	4.232000	0.58645	2.070000	0.61991	0.650000	0.86243	GTG		PASS	0.647	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		6	10	6	10	---	---	---	---
MNX1	3110	broad.mit.edu	37	7	156798434	156798434	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr7:156798434C>T	ENST00000252971.6	-	3	1286	c.986G>A	c.(985-987)gGa>gAa	p.G329E	MNX1-AS2_ENST00000429228.1_RNA|MNX1_ENST00000469500.1_Intron|MNX1_ENST00000543409.1_Missense_Mutation_p.G117E	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	329					anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G329E(1)		endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCTCGGCTCCCGGCTCCTC	0.721																																						uc003wnd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(985-987)GGA>GAA		motor neuron and pancreas homeobox 1 isoform 1							16.0	15.0	15.0					7																	156798434		2125	4184	6309	SO:0001583	missense	3110	Currarino_syndrome			humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:156798434C>T	AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"""Homeoboxes / ANTP class : HOXL subclass"""	4979	protein-coding gene	gene with protein product		142994	"""homeo box HB9"", ""homeobox HB9"""	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.986G>A	7.37:g.156798434C>T	ENSP00000252971:p.Gly329Glu					MNX1_uc003wmz.2_Intron|MNX1_uc003wna.2_Intron|MNX1_uc010lqq.1_Missense_Mutation_p.G122E|MNX1_uc003wnc.1_Missense_Mutation_p.G117E|MNX1_uc010lqr.1_RNA	p.G329E	NM_005515	NP_005506	P50219	MNX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1289	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	329					F5H401|Q9Y648	Missense_Mutation	SNP	ENST00000252971.6	37	c.986G>A	CCDS34788.1	.	.	.	.	.	.	.	.	.	.	C	5.908	0.351630	0.11182	.	.	ENSG00000130675	ENST00000252971;ENST00000543409;ENST00000542972	D;D	0.93247	-2.94;-3.19	4.42	-0.172	0.13327	.	1.059020	0.07585	U	0.920945	D	0.87067	0.6085	L	0.43152	1.355	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.001;0.002;0.003	T	0.69684	-0.5079	10	0.12103	T	0.63	-1.5245	4.0603	0.09836	0.0:0.2429:0.3546:0.4025	.	165;329;117	Q9UDY3;P50219;F5H401	.;MNX1_HUMAN;.	E	329;117;159	ENSP00000252971:G329E;ENSP00000438552:G117E	ENSP00000252971:G329E	G	-	2	0	MNX1	156491195	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-0.297000	0.08276	-0.098000	0.12285	0.306000	0.20318	GGA		PASS	0.721	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347796.3			7	13	7	13	---	---	---	---
XKR6	286046	broad.mit.edu	37	8	10756095	10756095	+	Silent	SNP	A	A	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr8:10756095A>G	ENST00000416569.2	-	3	1319	c.1293T>C	c.(1291-1293)ttT>ttC	p.F431F	XKR6_ENST00000304437.2_Silent_p.F152F	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	431						integral component of membrane (GO:0016021)		p.F431F(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CCTTGACGTTAAACCAGCAGA	0.463																																						uc003wtk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1291-1293)TTT>TTC		XK, Kell blood group complex subunit-related							126.0	108.0	114.0					8																	10756095		2203	4300	6503	SO:0001819	synonymous_variant	286046					integral to membrane		g.chr8:10756095A>G	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1293T>C	8.37:g.10756095A>G							p.F431F	NM_173683	NP_775954	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1320	-			431			Helical; (Potential).		Q8TBA0	Silent	SNP	ENST00000416569.2	37	c.1293T>C	CCDS5978.2	.	.	.	.	.	.	.	.	.	.	A	4.451	0.083463	0.08533	.	.	ENSG00000171044	ENST00000382461	.	.	.	5.27	4.13	0.48395	.	.	.	.	.	T	0.60025	0.2237	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57980	-0.7717	4	.	.	.	-13.0027	9.7567	0.40508	0.9188:0.0:0.0812:0.0	.	.	.	.	S	208	.	.	L	-	2	0	XKR6	10793505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.373000	0.59537	1.988000	0.58038	0.459000	0.35465	TTA		PASS	0.463	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		15	13	15	13	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35541202	35541202	+	Silent	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr8:35541202C>T	ENST00000404895.2	+	5	1036	c.708C>T	c.(706-708)atC>atT	p.I236I	UNC5D_ENST00000420357.1_Silent_p.I236I|UNC5D_ENST00000416672.1_Silent_p.I236I|UNC5D_ENST00000453357.2_Silent_p.I231I|UNC5D_ENST00000287272.2_Silent_p.I236I	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	236	Ig-like C2-type.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.I231I(3)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAGCCAACATCGTGGCTAAGA	0.532																																						uc003xjr.1																			3	Substitution - coding silent(3)		lung(3)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(706-708)ATC>ATT		unc-5 homolog D precursor							71.0	61.0	64.0					8																	35541202		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35541202C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.708C>T	8.37:g.35541202C>T						UNC5D_uc003xjs.1_Silent_p.I231I|UNC5D_uc003xjt.1_Silent_p.I5I	p.I236I	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	5	1036	+			236			Extracellular (Potential).|Ig-like C2-type.		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.708C>T	CCDS6093.2																																																																																				PASS	0.532	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			13	19	13	19	---	---	---	---
NKAIN3	286183	broad.mit.edu	37	8	63659621	63659621	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr8:63659621T>A	ENST00000523211.1	+	4	536	c.404T>A	c.(403-405)gTc>gAc	p.V135D	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.V135D	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V135D(1)		kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				TACGTCTCTGTCACAGGCTGC	0.498																																						uc010lyq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(403-405)GTC>GAC		Na+/K+ transporting ATPase interacting 3							124.0	125.0	125.0					8																	63659621		2083	4217	6300	SO:0001583	missense	286183					integral to membrane|plasma membrane		g.chr8:63659621T>A	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.404T>A	8.37:g.63659621T>A	ENSP00000429073:p.Val135Asp						p.V135D	NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN			4	536	+	Breast(64;0.127)	Lung NSC(129;0.187)	135						Missense_Mutation	SNP	ENST00000523211.1	37	c.404T>A	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.594247	0.66219	.	.	ENSG00000185942	ENST00000545532;ENST00000523211;ENST00000328472	T;T	0.16743	2.32;2.32	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000002	T	0.43478	0.1249	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.39921	-0.9590	10	0.56958	D	0.05	-20.8503	14.7719	0.69684	0.0:0.0:0.0:1.0	.	135	Q8N8D7	NKAI3_HUMAN	D	135	ENSP00000429073:V135D;ENSP00000333627:V135D	ENSP00000333627:V135D	V	+	2	0	NKAIN3	63822175	1.000000	0.71417	0.995000	0.50966	0.804000	0.45430	7.608000	0.82898	2.088000	0.63022	0.528000	0.53228	GTC		PASS	0.498	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688		11	23	11	23	---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71060681	71060681	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr8:71060681T>A	ENST00000452400.2	-	12	2613	c.2432A>T	c.(2431-2433)gAt>gTt	p.D811V	NCOA2_ENST00000267974.4_5'Flank	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	811					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.D811V(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CTGCAAATCATCCAAAATCTC	0.478			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""						OREG0018819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	1	Substitution - Missense(1)		lung(1)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(2431-2433)GAT>GTT		nuclear receptor coactivator 2							87.0	87.0	87.0					8																	71060681		1913	4136	6049	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71060681T>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2432A>T	8.37:g.71060681T>A	ENSP00000399968:p.Asp811Val		OREG0018819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1127	NCOA2_uc011lfb.1_5'UTR	p.D811V	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		12	2594	-	Breast(64;0.201)		811					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.2432A>T	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.487010	0.84854	.	.	ENSG00000140396	ENST00000452400	T	0.01705	4.68	6.06	6.06	0.98353	.	0.045228	0.85682	D	0.000000	T	0.02304	0.0071	L	0.32530	0.975	0.80722	D	1	P	0.50156	0.932	B	0.39185	0.293	T	0.60495	-0.7252	10	0.72032	D	0.01	.	16.6127	0.84892	0.0:0.0:0.0:1.0	.	811	Q15596	NCOA2_HUMAN	V	811	ENSP00000399968:D811V	ENSP00000399968:D811V	D	-	2	0	NCOA2	71223235	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.499000	0.81566	2.322000	0.78497	0.528000	0.53228	GAT		PASS	0.478	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			32	38	32	38	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77618090	77618091	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr8:77618090_77618091CC>AA	ENST00000521891.2	+	2	2215_2216	c.1767_1768CC>AA	c.(1765-1770)caCCag>caAAag	p.589_590HQ>QK	ZFHX4_ENST00000518282.1_Missense_Mutation_p.589_590HQ>QK|ZFHX4_ENST00000050961.6_Missense_Mutation_p.589_590HQ>QK|ZFHX4_ENST00000455469.2_Missense_Mutation_p.589_590HQ>QK|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	589					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.H589Q(1)|p.Q590K(1)|p.H589_Q590>QK(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)			CCACTCCTCACCAGCATGGCTT	0.584										HNSCC(33;0.089)																												uc003yav.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(1765-1767)CAC>CAA|c.(1768-1770)CAG>AAG		zinc finger homeodomain 4																																				SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618090C>A|g.chr8:77618091C>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	Exception_encountered	8.37:g.77618090_77618091delinsAA	ENSP00000430497:p.H589_Q590delinsQK	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.H589Q|ZFHX4_uc003yau.1_Missense_Mutation_p.H589Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.H589Q|ZFHX4_uc003yat.1_Missense_Mutation_p.Q590K|ZFHX4_uc003yau.1_Missense_Mutation_p.Q590K|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q590K	p.H589Q|p.Q590K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2154|2155	+			589|590					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1767C>A|c.1768C>A	CCDS47878.2																																																																																				PASS	0.584	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		10|11	46|47	10	46	---	---	---	---
DCAF4L2	138009	broad.mit.edu	37	8	88886097	88886097	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr8:88886097C>A	ENST00000319675.3	-	1	199	c.103G>T	c.(103-105)Ggt>Tgt	p.G35C		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	35								p.G35C(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTGAGGAAACCTAGCTGGTTC	0.517																																						uc003ydz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(103-105)GGT>TGT		WD repeat domain 21C							87.0	79.0	82.0					8																	88886097		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88886097C>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.103G>T	8.37:g.88886097C>A	ENSP00000316496:p.Gly35Cys						p.G35C	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	200	-			35						Missense_Mutation	SNP	ENST00000319675.3	37	c.103G>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167461	0.57476	.	.	ENSG00000176566	ENST00000319675	D	0.84070	-1.8	2.23	2.23	0.28157	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88119	0.6351	M	0.72894	2.215	0.38868	D	0.95662	D	0.89917	1.0	D	0.97110	1.0	D	0.87877	0.2675	10	0.87932	D	0	.	8.095	0.30822	0.0:1.0:0.0:0.0	.	35	Q8NA75	DC4L2_HUMAN	C	35	ENSP00000316496:G35C	ENSP00000316496:G35C	G	-	1	0	DCAF4L2	88955213	0.997000	0.39634	0.120000	0.21714	0.408000	0.30992	1.798000	0.38814	0.936000	0.37367	0.467000	0.42956	GGT		PASS	0.517	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		22	69	22	69	---	---	---	---
DCSTAMP	81501	broad.mit.edu	37	8	105367395	105367395	+	Silent	SNP	G	G	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr8:105367395G>C	ENST00000297581.2	+	3	1369	c.1320G>C	c.(1318-1320)ctG>ctC	p.L440L	DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	440					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.L440L(1)									AAAGACGGCTGAGTCTCTATC	0.473																																						uc003ylx.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|large_intestine(1)|ovary(1)	4						c.(1318-1320)CTG>CTC		dendritic cell-specific transmembrane protein							45.0	47.0	47.0					8																	105367395		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105367395G>C	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1320G>C	8.37:g.105367395G>C							p.L440L	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		3	1369	+			440			Cytoplasmic.		B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.1320G>C	CCDS6301.1																																																																																				PASS	0.473	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		10	39	10	39	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110455259	110455259	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr8:110455259A>C	ENST00000378402.5	+	36	4582	c.4478A>C	c.(4477-4479)cAa>cCa	p.Q1493P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1493					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.Q1495P(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)			ATTTTTCTCCAAGGAGTCATT	0.408										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.(4477-4479)CAA>CCA		fibrocystin L precursor							193.0	181.0	185.0					8																	110455259		1876	4116	5992	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110455259A>C	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.4478A>C	8.37:g.110455259A>C	ENSP00000367655:p.Gln1493Pro	HNSCC(38;0.096)					p.Q1493P	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		36	4582	+			1493			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.4478A>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.658491	0.67586	.	.	ENSG00000205038	ENST00000378402	D	0.86164	-2.08	6.16	6.16	0.99307	Cupredoxin (1);	0.000000	0.85682	D	0.000000	D	0.84857	0.5565	L	0.56769	1.78	0.43191	D	0.995029	P	0.36959	0.575	B	0.34385	0.181	D	0.85133	0.0976	10	0.52906	T	0.07	.	14.7581	0.69583	1.0:0.0:0.0:0.0	.	1493	Q86WI1	PKHL1_HUMAN	P	1493	ENSP00000367655:Q1493P	ENSP00000367655:Q1493P	Q	+	2	0	PKHD1L1	110524435	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.544000	0.73878	2.367000	0.80283	0.528000	0.53228	CAA		PASS	0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		10	193	10	193	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113308094	113308094	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr8:113308094T>C	ENST00000297405.5	-	54	8826	c.8582A>G	c.(8581-8583)cAc>cGc	p.H2861R	CSMD3_ENST00000352409.3_Missense_Mutation_p.H2791R|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2692R|CSMD3_ENST00000343508.3_Missense_Mutation_p.H2821R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2861	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H2821R(1)|p.H2861R(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						AGACCAATTGTGATCCTGTTG	0.388										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.(8581-8583)CAC>CGC		CUB and Sushi multiple domains 3 isoform 1							121.0	101.0	108.0					8																	113308094		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113308094T>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.8582A>G	8.37:g.113308094T>C	ENSP00000297405:p.His2861Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.H2063R|CSMD3_uc003ynt.2_Missense_Mutation_p.H2821R|CSMD3_uc011lhx.1_Missense_Mutation_p.H2692R	p.H2861R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			54	8741	-			2861			Extracellular (Potential).|Sushi 18.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8582A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.951359	0.73787	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.31	5.31	0.75309	Complement control module (2);Sushi/SCR/CCP (3);	0.067418	0.64402	D	0.000018	T	0.54775	0.1879	N	0.10874	0.06	0.53005	D	0.999965	P;B;D	0.62365	0.855;0.211;0.991	P;B;P	0.53593	0.653;0.189;0.73	T	0.58171	-0.7683	10	0.33141	T	0.24	.	15.2618	0.73628	0.0:0.0:0.0:1.0	.	2692;2861;2821	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	2821;2861;2131;2692;2791	ENSP00000345799:H2821R;ENSP00000297405:H2861R;ENSP00000341558:H2131R;ENSP00000412263:H2692R;ENSP00000343124:H2791R	ENSP00000297405:H2861R	H	-	2	0	CSMD3	113377270	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.995000	0.88328	2.008000	0.58898	0.533000	0.62120	CAC		PASS	0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		18	25	18	25	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113326230	113326230	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr8:113326230G>A	ENST00000297405.5	-	49	7845	c.7601C>T	c.(7600-7602)tCt>tTt	p.S2534F	CSMD3_ENST00000352409.3_Missense_Mutation_p.S2464F|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2430F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2494F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2534	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S2534F(1)|p.S2494F(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						ATTAAAAGCAGATGAATAATC	0.333										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.(7600-7602)TCT>TTT		CUB and Sushi multiple domains 3 isoform 1							84.0	86.0	85.0					8																	113326230		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113326230G>A	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.7601C>T	8.37:g.113326230G>A	ENSP00000297405:p.Ser2534Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.S1736F|CSMD3_uc003ynt.2_Missense_Mutation_p.S2494F|CSMD3_uc011lhx.1_Missense_Mutation_p.S2430F|CSMD3_uc003ynw.1_Missense_Mutation_p.S245F	p.S2534F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			49	7760	-			2534			CUB 14.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7601C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852976	0.91355	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.48	5.48	0.80851	CUB (5);	0.261212	0.32884	N	0.005540	T	0.51652	0.1687	L	0.59436	1.845	0.50171	D	0.999854	P;P;P	0.51147	0.831;0.916;0.942	P;P;P	0.59825	0.602;0.864;0.504	T	0.36648	-0.9739	10	0.10111	T	0.7	.	19.3386	0.94332	0.0:0.0:1.0:0.0	.	2430;2534;2494	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	2494;2534;1804;2430;2464	ENSP00000345799:S2494F;ENSP00000297405:S2534F;ENSP00000341558:S1804F;ENSP00000412263:S2430F;ENSP00000343124:S2464F	ENSP00000297405:S2534F	S	-	2	0	CSMD3	113395406	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.494000	0.73661	2.544000	0.85801	0.579000	0.79373	TCT		PASS	0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		13	56	13	56	---	---	---	---
SLC45A4	57210	broad.mit.edu	37	8	142228546	142228546	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr8:142228546T>A	ENST00000024061.3	-	4	1347	c.1040A>T	c.(1039-1041)tAc>tTc	p.Y347F	SLC45A4_ENST00000519067.1_Missense_Mutation_p.Y347F|SLC45A4_ENST00000517878.1_Missense_Mutation_p.Y398F|SLC45A4_ENST00000433583.2_Missense_Mutation_p.Y340F	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)		p.Y347F(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CACCCTGGTGTAGCCGCCGAG	0.632																																						uc003ywd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1039-1041)TAC>TTC		solute carrier family 45, member 4							37.0	38.0	38.0					8																	142228546		2202	4300	6502	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142228546T>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1040A>T	8.37:g.142228546T>A	ENSP00000024061:p.Tyr347Phe					SLC45A4_uc003ywc.1_Missense_Mutation_p.Y347F|SLC45A4_uc010meq.1_Missense_Mutation_p.Y345F	p.Y347F	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1348	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		398					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.1040A>T	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	T	6.899	0.535369	0.13188	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.13901	2.58;2.57;2.57;2.55	5.4	-0.479	0.12089	.	1.156800	0.06326	N	0.705375	T	0.12902	0.0313	L	0.44542	1.39	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.001	B;B;B	0.15052	0.005;0.012;0.004	T	0.41448	-0.9508	10	0.23302	T	0.38	-3.0029	10.2625	0.43436	0.0:0.2408:0.0:0.7592	.	398;347;347	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	F	347;398;340;347	ENSP00000429059:Y347F;ENSP00000428137:Y398F;ENSP00000400799:Y340F;ENSP00000024061:Y347F	ENSP00000024061:Y347F	Y	-	2	0	SLC45A4	142297728	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.123000	0.15708	-0.333000	0.08476	0.459000	0.35465	TAC		PASS	0.632	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		17	42	17	42	---	---	---	---
CYC1	1537	broad.mit.edu	37	8	145151539	145151539	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr8:145151539C>G	ENST00000318911.4	+	5	737	c.664C>G	c.(664-666)Ccc>Gcc	p.P222A	SHARPIN_ENST00000533948.1_5'Flank	NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	222					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.P222A(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGCGAGCCACCCACCGGGGT	0.572																																						uc003zaz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(664-666)CCC>GCC		cytochrome c-1							91.0	78.0	83.0					8																	145151539		2203	4300	6503	SO:0001583	missense	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145151539C>G	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.664C>G	8.37:g.145151539C>G	ENSP00000317159:p.Pro222Ala					CYC1_uc003zay.2_Missense_Mutation_p.P163A	p.P222A	NM_001916	NP_001907	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	707	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		222					Q5U062|Q6FHS7	Missense_Mutation	SNP	ENST00000318911.4	37	c.664C>G	CCDS6415.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.507942	0.64410	.	.	ENSG00000179091	ENST00000318911	T	0.65549	-0.16	5.1	5.1	0.69264	Cytochrome c domain (2);	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89130	0.3509	10	0.87932	D	0	-21.2808	16.0142	0.80425	0.0:1.0:0.0:0.0	.	222	P08574	CY1_HUMAN	A	222	ENSP00000317159:P222A	ENSP00000317159:P222A	P	+	1	0	CYC1	145223527	1.000000	0.71417	0.994000	0.49952	0.070000	0.16714	7.350000	0.79385	2.379000	0.81126	0.555000	0.69702	CCC		PASS	0.572	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		28	46	28	46	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32630711	32630711	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr9:32630711T>C	ENST00000242310.4	-	1	4956	c.4867A>G	c.(4867-4869)Att>Gtt	p.I1623V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1623					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.I1623V(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TACTCAGTAATTGTCTGGTAA	0.398																																						uc003zrg.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(4867-4869)ATT>GTT		TBP-associated factor RNA polymerase 1-like							132.0	124.0	127.0					9																	32630711		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630711T>C	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4867A>G	9.37:g.32630711T>C	ENSP00000418379:p.Ile1623Val					uc003zrh.1_5'Flank	p.I1623V	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4957	-			1623					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.4867A>G	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	T	1.324	-0.598696	0.03744	.	.	ENSG00000122728	ENST00000242310	T	0.42900	0.96	0.489	-0.977	0.10282	Bromodomain (3);	0.130380	0.45361	D	0.000364	T	0.17109	0.0411	N	0.08118	0	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.07121	-1.0789	9	0.49607	T	0.09	.	.	.	.	.	1623	Q8IZX4	TAF1L_HUMAN	V	1623	ENSP00000418379:I1623V	ENSP00000418379:I1623V	I	-	1	0	TAF1L	32620711	0.928000	0.31464	0.071000	0.20095	0.019000	0.09904	0.127000	0.15790	-0.737000	0.04824	-1.285000	0.01374	ATT		PASS	0.398	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			35	29	35	29	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79971682	79971682	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr9:79971682A>G	ENST00000360280.3	+	55	7965	c.7705A>G	c.(7705-7707)Atg>Gtg	p.M2569V	VPS13A_ENST00000376636.3_Missense_Mutation_p.M2530V|VPS13A_ENST00000376634.4_Missense_Mutation_p.M2569V|VPS13A_ENST00000357409.5_Missense_Mutation_p.M2569V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2569					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.M2569V(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						ATGGAAGCCAATGAGTGTAAA	0.343																																						uc004akr.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(7705-7707)ATG>GTG		vacuolar protein sorting 13A isoform A							82.0	83.0	83.0					9																	79971682		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79971682A>G	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.7705A>G	9.37:g.79971682A>G	ENSP00000353422:p.Met2569Val					VPS13A_uc004akp.3_Missense_Mutation_p.M2569V|VPS13A_uc004akq.3_Missense_Mutation_p.M2569V|VPS13A_uc004aks.2_Missense_Mutation_p.M2530V	p.M2569V	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			55	7965	+			2569			TPR 7.		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.7705A>G	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.487558	0.44249	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.44083	1.11;0.93;1.02;1.11	5.98	2.4	0.29515	.	0.198327	0.48286	D	0.000192	T	0.38453	0.1041	M	0.70275	2.135	0.80722	D	1	B;B;B;B	0.27117	0.041;0.105;0.168;0.168	B;B;B;B	0.26864	0.059;0.05;0.074;0.074	T	0.22695	-1.0209	9	.	.	.	.	9.1771	0.37118	0.5217:0.3816:0.0:0.0967	.	2530;2569;2569;2569	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	V	2569;2530;2569;2569	ENSP00000365821:M2569V;ENSP00000365823:M2530V;ENSP00000353422:M2569V;ENSP00000349985:M2569V	.	M	+	1	0	VPS13A	79161502	0.978000	0.34361	0.993000	0.49108	0.993000	0.82548	0.834000	0.27518	1.081000	0.41110	0.482000	0.46254	ATG		PASS	0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		21	22	21	22	---	---	---	---
ISCA1	81689	broad.mit.edu	37	9	88880991	88880992	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr9:88880991_88880992CC>AT	ENST00000375991.4	-	4	426_427	c.356_357GG>AT	c.(355-357)gGG>gAT	p.G119D	ISCA1_ENST00000311534.6_Missense_Mutation_p.G21D|ISCA1_ENST00000452279.2_Missense_Mutation_p.G166D	NM_030940.3	NP_112202.2	Q9BUE6	ISCA1_HUMAN	iron-sulfur cluster assembly 1	119					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.G119G(1)|p.G119E(1)|p.G119D(1)		endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)	8				OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375)		AGCCACAAGTCCCTTTGATGTT	0.421																																						uc004aop.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(355-357)GGG>GGT|c.(355-357)GGG>GAG		HESB like domain containing 2 precursor																																				SO:0001583	missense	81689				iron-sulfur cluster assembly	mitochondrion	iron-sulfur cluster binding|metal ion binding|structural molecule activity	g.chr9:88880991C>A|g.chr9:88880992C>T	AF038186	CCDS35056.1	9q22.1	2013-08-06	2013-08-06	2007-01-18	ENSG00000135070	ENSG00000135070			28660	protein-coding gene	gene with protein product		611006	"""HESB like domain containing 2"", ""iron-sulfur cluster assembly 1 homolog (S. cerevisiae)"""	HBLD2		15262227, 22323289	Standard	NM_030940		Approved	MGC4276, ISA1, hIscA	uc004aop.3	Q9BUE6	OTTHUMG00000020135	ENST00000375991.4:c.356_357delinsAT	9.37:g.88880991_88880992delinsAT	ENSP00000365159:p.Gly119Asp					GOLM1_uc010mqd.1_Intron	p.G119G|p.G119E	NM_030940	NP_112202	Q9BUE6	ISCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375)	4	474|473	-			119					B3KP34|B4DJI5|Q8ND75|Q9BZR2	Silent|Missense_Mutation	SNP	ENST00000375991.4	37	c.357G>T|c.356G>A	CCDS35056.1																																																																																				PASS	0.421	ISCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052914.1	NM_030940		35	126|127	35	126	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104356945	104356945	+	Intron	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr9:104356945C>T	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.D90N	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.D90N(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TGCTCCTCGTCGCCCTTGACG	0.532																																						uc004bbr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(268-270)GAC>AAC		protein phosphatase 3 regulatory subunit B, beta	Cyclosporine(DB00091)						127.0	120.0	123.0					9																	104356945		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104356945C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15303G>A	9.37:g.104356945C>T						GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	p.D90N	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN			1	339	-		Acute lymphoblastic leukemia(62;0.0527)	87			EF-hand 3.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.268G>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	c	2.954	-0.216016	0.06101	.	.	ENSG00000188386	ENST00000374806;ENST00000541976	T	0.31769	1.48	3.97	-2.19	0.07015	EF-hand-like domain (1);	1.075020	0.07272	N	0.869355	T	0.18882	0.0453	N	0.21545	0.675	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.31998	-0.9923	10	0.21540	T	0.41	-14.5695	9.6466	0.39872	0.0:0.4894:0.0:0.5106	.	87	Q96LZ3	CANB2_HUMAN	N	90	ENSP00000363939:D90N	ENSP00000363939:D90N	D	-	1	0	PPP3R2	103396766	0.019000	0.18553	0.000000	0.03702	0.124000	0.20399	0.413000	0.21148	-0.472000	0.06881	-0.981000	0.02577	GAC		PASS	0.532	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			64	61	64	61	---	---	---	---
ZFP37	7539	broad.mit.edu	37	9	115805839	115805839	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr9:115805839C>A	ENST00000374227.3	-	4	1086	c.1059G>T	c.(1057-1059)caG>caT	p.Q353H	ZFP37_ENST00000553380.1_Missense_Mutation_p.Q368H|ZFP37_ENST00000555206.1_Missense_Mutation_p.Q354H	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	353					regulation of transcription, DNA-templated (GO:0006355)|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.Q353H(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTTTGCCACACTGAATACATT	0.408																																						uc004bgm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1057-1059)CAG>CAT		zinc finger protein 37 homolog							108.0	106.0	107.0					9																	115805839		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805839C>A	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1059G>T	9.37:g.115805839C>A	ENSP00000363344:p.Gln353His					ZFP37_uc011lwz.1_Missense_Mutation_p.Q368H|ZFP37_uc011lxa.1_Missense_Mutation_p.Q354H	p.Q353H	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			4	1087	-			353			C2H2-type 3; atypical.		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.1059G>T	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.371995	0.24857	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.07444	3.19;3.19;3.19	4.33	3.43	0.39272	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.378995	0.19424	N	0.114601	T	0.09512	0.0234	N	0.04686	-0.185	0.26676	N	0.971622	D;B;D	0.65815	0.986;0.429;0.995	P;B;D	0.67231	0.794;0.317;0.95	T	0.09509	-1.0671	10	0.66056	D	0.02	-5.9125	6.6469	0.22941	0.0:0.7939:0.0:0.2061	.	354;368;353	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	H	353;354;368	ENSP00000363344:Q353H;ENSP00000451310:Q354H;ENSP00000452552:Q368H	ENSP00000363344:Q353H	Q	-	3	2	ZFP37	114845660	0.006000	0.16342	0.992000	0.48379	0.988000	0.76386	-0.426000	0.07008	1.422000	0.47177	0.655000	0.94253	CAG		PASS	0.408	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		86	82	86	82	---	---	---	---
BRINP1	1620	broad.mit.edu	37	9	122004337	122004337	+	Silent	SNP	A	A	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr9:122004337A>T	ENST00000265922.3	-	4	1028	c.567T>A	c.(565-567)acT>acA	p.T189T	BRINP1_ENST00000373964.2_Silent_p.T189T	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	189	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.T189T(1)									TGATTGCTCCAGTTGATATCT	0.488																																						uc004bkc.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(565-567)ACT>ACA		deleted in bladder cancer 1 precursor							175.0	146.0	156.0					9																	122004337		2203	4300	6503	SO:0001819	synonymous_variant	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122004337A>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.567T>A	9.37:g.122004337A>T						DBC1_uc004bkd.2_Silent_p.T189T	p.T189T	NM_014618	NP_055433	O60477	DBC1_HUMAN			4	1023	-			189			MACPF.		Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.567T>A	CCDS6822.1																																																																																				PASS	0.488	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		44	41	44	41	---	---	---	---
RABGAP1	23637	broad.mit.edu	37	9	125760918	125760918	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr9:125760918C>T	ENST00000373647.4	+	10	1381	c.1247C>T	c.(1246-1248)aCa>aTa	p.T416I		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	416					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)	p.T416I(1)|p.T344I(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TTGGTAATAACAGAAGTACAG	0.398																																						uc011lzh.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(2)	5						c.(1246-1248)ACA>ATA		RAB GTPase activating protein 1							123.0	129.0	127.0					9																	125760918		2203	4300	6503	SO:0001583	missense	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125760918C>T	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1247C>T	9.37:g.125760918C>T	ENSP00000362751:p.Thr416Ile					RABGAP1_uc004bnl.3_RNA	p.T416I	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN			10	1381	+			416					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	c.1247C>T	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037463	0.93630	.	.	ENSG00000011454	ENST00000373647	T	0.06528	3.29	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.20373	0.0490	M	0.66939	2.045	0.80722	D	1	D	0.55800	0.973	P	0.58172	0.834	T	0.00322	-1.1818	10	0.52906	T	0.07	-12.0299	18.0316	0.89286	0.0:1.0:0.0:0.0	.	416	Q9Y3P9	RBGP1_HUMAN	I	416	ENSP00000362751:T416I	ENSP00000362751:T416I	T	+	2	0	RABGAP1	124800739	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.273000	0.78527	2.484000	0.83849	0.655000	0.94253	ACA		PASS	0.398	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		44	139	44	139	---	---	---	---
LRIT2	340745	broad.mit.edu	37	10	85982265	85982265	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr10:85982265G>T	ENST00000372113.4	-	3	1069	c.1064C>A	c.(1063-1065)tCt>tAt	p.S355Y	LRIT2_ENST00000538192.1_Missense_Mutation_p.S365Y	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	355						integral component of membrane (GO:0016021)		p.S355Y(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GATGGAAAGAGAATCAGGTGC	0.542																																						uc001kcy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1063-1065)TCT>TAT		leucine rich repeat containing 22 precursor							92.0	78.0	83.0					10																	85982265		2203	4300	6503	SO:0001583	missense	340745					integral to membrane		g.chr10:85982265G>T		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1064C>A	10.37:g.85982265G>T	ENSP00000361185:p.Ser355Tyr					LRIT2_uc010qmc.1_Missense_Mutation_p.S365Y	p.S355Y	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN			3	1072	-			355					B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.1064C>A	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	G	7.320	0.616755	0.14129	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.62941	0.38;-0.01	5.11	4.19	0.49359	.	0.908323	0.09435	N	0.802595	T	0.43144	0.1234	N	0.24115	0.695	0.09310	N	1	P;B	0.37398	0.593;0.44	B;B	0.30943	0.122;0.086	T	0.09618	-1.0666	10	0.12430	T	0.62	.	10.3597	0.43987	0.1655:0.0:0.8345:0.0	.	365;355	B7ZME6;A6NDA9	.;LRIT2_HUMAN	Y	355;365	ENSP00000361185:S355Y;ENSP00000438264:S365Y	ENSP00000361185:S355Y	S	-	2	0	LRIT2	85972245	0.979000	0.34478	0.005000	0.12908	0.024000	0.10985	4.228000	0.58619	1.245000	0.43885	0.557000	0.71058	TCT		PASS	0.542	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		10	18	10	18	---	---	---	---
CCSER2	54462	broad.mit.edu	37	10	86133468	86133468	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr10:86133468C>T	ENST00000224756.8	+	3	1696	c.1511C>T	c.(1510-1512)tCt>tTt	p.S504F	CCSER2_ENST00000359979.4_Missense_Mutation_p.S504F|CCSER2_ENST00000372088.2_Missense_Mutation_p.S504F	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	504					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.S504F(1)									CTCTCTCCATCTGATAGCTCT	0.433																																						uc001kdh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1510-1512)TCT>TTT		granule cell antiserum positive 14							116.0	105.0	109.0					10																	86133468		2203	4299	6502	SO:0001583	missense	54462							g.chr10:86133468C>T		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1511C>T	10.37:g.86133468C>T	ENSP00000224756:p.Ser504Phe					FAM190B_uc001kdg.1_Missense_Mutation_p.S504F|FAM190B_uc010qmd.1_Missense_Mutation_p.S504F	p.S504F	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN			3	1705	+			504					B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.1511C>T	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542931	0.86022	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.69926	-0.44;1.58;1.48	5.35	5.35	0.76521	.	0.140419	0.47852	D	0.000214	T	0.80711	0.4675	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.82557	-0.0398	10	0.87932	D	0	-3.9686	16.5609	0.84566	0.0:1.0:0.0:0.0	.	504;504;504	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	F	504	ENSP00000353068:S504F;ENSP00000224756:S504F;ENSP00000361160:S504F	ENSP00000224756:S504F	S	+	2	0	FAM190B	86123448	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.261000	0.78400	2.506000	0.84524	0.585000	0.79938	TCT		PASS	0.433	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		3	35	3	35	---	---	---	---
C10orf12	26148	broad.mit.edu	37	10	98744528	98744528	+	Silent	SNP	A	A	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr10:98744528A>G	ENST00000286067.2	+	1	3488	c.3381A>G	c.(3379-3381)ccA>ccG	p.P1127P		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1127								p.P1127P(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCAAGAGGCCAGCTGCAAGGG	0.532																																						uc001kmv.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(3379-3381)CCA>CCG		hypothetical protein LOC26148							54.0	60.0	58.0					10																	98744528		2203	4300	6503	SO:0001819	synonymous_variant	26148							g.chr10:98744528A>G	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.3381A>G	10.37:g.98744528A>G							p.P1127P	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	3488	+		Colorectal(252;0.172)	1127					Q9H945|Q9Y457	Silent	SNP	ENST00000286067.2	37	c.3381A>G	CCDS7452.1																																																																																				PASS	0.532	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		5	22	5	22	---	---	---	---
TAF5	6877	broad.mit.edu	37	10	105138194	105138194	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr10:105138194C>G	ENST00000369839.3	+	3	1023	c.1000C>G	c.(1000-1002)Cag>Gag	p.Q334E	TAF5_ENST00000351396.4_Missense_Mutation_p.Q334E	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	334					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|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)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.Q334E(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GAACATAGTTCAGGAGCACCT	0.458																																						uc001kwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1000-1002)CAG>GAG		TBP-associated factor 5							100.0	92.0	95.0					10																	105138194		2203	4300	6503	SO:0001583	missense	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105138194C>G	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1000C>G	10.37:g.105138194C>G	ENSP00000358854:p.Gln334Glu					TAF5_uc010qqq.1_Missense_Mutation_p.Q334E	p.Q334E	NM_006951	NP_008882	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	3	1023	+		Colorectal(252;0.0747)|Breast(234;0.128)	334					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	c.1000C>G	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035818	0.54896	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.57752	0.64;0.38	5.69	5.69	0.88448	TFIID subunit, WD40-associated region (1);	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	M	0.70595	2.14	0.80722	D	1	B;B	0.22909	0.071;0.077	B;B	0.24701	0.022;0.055	T	0.52786	-0.8529	10	0.33940	T	0.23	-8.3953	19.8062	0.96532	0.0:1.0:0.0:0.0	.	334;334	Q15542-2;Q15542	.;TAF5_HUMAN	E	334	ENSP00000358854:Q334E;ENSP00000311024:Q334E	ENSP00000311024:Q334E	Q	+	1	0	TAF5	105128184	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.676000	0.91093	0.555000	0.69702	CAG		PASS	0.458	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			18	19	18	19	---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115380405	115380405	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr10:115380405T>G	ENST00000359988.3	-	25	3076	c.2832A>C	c.(2830-2832)ttA>ttC	p.L944F	NRAP_ENST00000369360.3_Missense_Mutation_p.L917F|NRAP_ENST00000360478.3_Missense_Mutation_p.L909F|NRAP_ENST00000369358.4_Missense_Mutation_p.L952F	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.L944F(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)		GCTCCACATTTAATGACCCGG	0.512																																						uc001laj.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(2830-2832)TTA>TTC		nebulin-related anchoring protein isoform S							161.0	143.0	149.0					10																	115380405		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115380405T>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.2832A>C	10.37:g.115380405T>G	ENSP00000353078:p.Leu944Phe					NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.L909F|NRAP_uc001lal.3_Missense_Mutation_p.L944F	p.L944F	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	25	2996	-		Colorectal(252;0.0233)|Breast(234;0.188)	944						Missense_Mutation	SNP	ENST00000359988.3	37	c.2832A>C	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.712975	0.68730	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.25749	2.06;2.12;1.84;1.78	6.17	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.84773	2.715	0.43793	D	0.996336	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	T	0.53436	-0.8439	10	0.44086	T	0.13	.	9.228	0.37418	0.0:0.1368:0.0:0.8632	.	944;909;944	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	F	952;917;944;909	ENSP00000358365:L952F;ENSP00000358367:L917F;ENSP00000353078:L944F;ENSP00000353666:L909F	ENSP00000353078:L944F	L	-	3	2	NRAP	115370395	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.666000	0.37460	1.165000	0.42670	0.533000	0.62120	TTA		PASS	0.512	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		48	98	48	98	---	---	---	---
FGFR2	2263	broad.mit.edu	37	10	123263335	123263335	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr10:123263335C>G	ENST00000358487.5	-	10	1680	c.1408G>C	c.(1408-1410)Gag>Cag	p.E470Q	FGFR2_ENST00000360144.3_Missense_Mutation_p.E382Q|FGFR2_ENST00000351936.6_Missense_Mutation_p.E468Q|FGFR2_ENST00000478859.1_Missense_Mutation_p.E242Q|FGFR2_ENST00000356226.4_Missense_Mutation_p.E353Q|FGFR2_ENST00000346997.2_Missense_Mutation_p.E468Q|FGFR2_ENST00000357555.5_Missense_Mutation_p.E381Q|FGFR2_ENST00000457416.2_Missense_Mutation_p.E471Q|FGFR2_ENST00000369060.4_Missense_Mutation_p.E354Q|FGFR2_ENST00000369056.1_Missense_Mutation_p.E471Q|FGFR2_ENST00000369059.1_Missense_Mutation_p.E356Q|FGFR2_ENST00000369061.4_Missense_Mutation_p.E358Q	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	470					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.E471Q(1)|p.E470Q(1)|p.E468Q(1)|p.E381Q(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TTTGGGTCCTCTGGAAGTTCA	0.502		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													uc010qtk.1		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	Crouzon|Pfeiffer|and Apert syndromes	E			gastric. NSCLC|endometrial		4	Substitution - Missense(4)		lung(4)	endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96						c.(1408-1410)GAG>CAG		fibroblast growth factor receptor 2 isoform 1	Palifermin(DB00039)						78.0	76.0	76.0					10																	123263335		2203	4300	6503	SO:0001583	missense	2263	Apert_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123263335C>G	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1408G>C	10.37:g.123263335C>G	ENSP00000351276:p.Glu470Gln					FGFR2_uc010qtg.1_Missense_Mutation_p.E358Q|FGFR2_uc010qth.1_Missense_Mutation_p.E355Q|FGFR2_uc010qti.1_Missense_Mutation_p.E381Q|FGFR2_uc010qtj.1_Missense_Mutation_p.E471Q|FGFR2_uc010qtl.1_Missense_Mutation_p.E354Q|FGFR2_uc010qtm.1_Missense_Mutation_p.E353Q|FGFR2_uc001lfl.3_Missense_Mutation_p.E471Q|FGFR2_uc001lfm.2_Missense_Mutation_p.E382Q|FGFR2_uc001lfg.3_Missense_Mutation_p.E78Q	p.E470Q	NM_000141	NP_000132	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	11	2055	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	470			Cytoplasmic (Potential).		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.1408G>C	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449167	0.43531	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.79554	-1.22;-1.28;-1.23;-1.21;-1.26;-1.2;-1.22;-1.23;-1.22;-1.22;-1.21;-1.21;-1.21;-1.21	6.03	6.03	0.97812	Protein kinase-like domain (1);	0.089351	0.85682	D	0.000000	T	0.74160	0.3680	L	0.45352	1.415	0.54753	D	0.999989	B;B;B;B;B;B;B;B	0.31351	0.116;0.185;0.017;0.304;0.004;0.096;0.006;0.32	B;B;B;B;B;B;B;B	0.28139	0.029;0.086;0.003;0.032;0.001;0.063;0.006;0.045	T	0.69907	-0.5018	10	0.27785	T	0.31	.	15.982	0.80116	0.0:0.8662:0.1338:0.0	.	487;469;381;353;470;382;471;373	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	Q	381;471;358;470;353;354;356;62;468;471;468;382;471;471;379	ENSP00000350166:E381Q;ENSP00000358057:E358Q;ENSP00000351276:E470Q;ENSP00000348559:E353Q;ENSP00000358056:E354Q;ENSP00000358055:E356Q;ENSP00000404219:E62Q;ENSP00000263451:E468Q;ENSP00000410294:E471Q;ENSP00000309878:E468Q;ENSP00000353262:E382Q;ENSP00000358052:E471Q;ENSP00000358054:E471Q;ENSP00000337665:E379Q	ENSP00000337665:E379Q	E	-	1	0	FGFR2	123253325	0.994000	0.37717	0.970000	0.41538	0.984000	0.73092	3.152000	0.50677	2.854000	0.98071	0.655000	0.94253	GAG		PASS	0.502	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		3	35	3	35	---	---	---	---
EBF3	253738	broad.mit.edu	37	10	131665464	131665464	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr10:131665464G>C	ENST00000355311.5	-	10	1052	c.980C>G	c.(979-981)aCc>aGc	p.T327S	EBF3_ENST00000368648.3_Missense_Mutation_p.T318S			Q9H4W6	COE3_HUMAN	early B-cell factor 3	327	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T327S(1)|p.T318S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GTAGGAGAGGGTCACTTCGAC	0.577																																						uc001lki.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(952-954)ACC>AGC		early B-cell factor 3							95.0	84.0	88.0					10																	131665464		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131665464G>C		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.980C>G	10.37:g.131665464G>C	ENSP00000347463:p.Thr327Ser						p.T318S	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	10	1012	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	327			IPT/TIG.		A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.953C>G		.	.	.	.	.	.	.	.	.	.	G	26.7	4.761484	0.89932	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.74632	-0.86;-0.86	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.81403	0.4815	L	0.47716	1.5	0.80722	D	1	D	0.57899	0.981	P	0.61722	0.893	T	0.81562	-0.0876	10	0.49607	T	0.09	-25.4389	18.9221	0.92529	0.0:0.0:1.0:0.0	.	318	Q9H4W6-2	.	S	327;318	ENSP00000347463:T327S;ENSP00000357637:T318S	ENSP00000347463:T327S	T	-	2	0	EBF3	131555454	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.716000	0.98752	2.632000	0.89209	0.655000	0.94253	ACC		PASS	0.577	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		3	30	3	30	---	---	---	---
ZNF143	7702	broad.mit.edu	37	11	9516304	9516304	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr11:9516304C>T	ENST00000396602.2	+	8	876	c.757C>T	c.(757-759)Cat>Tat	p.H253Y	ZNF143_ENST00000530463.1_Missense_Mutation_p.H252Y|ZNF143_ENST00000396597.3_Missense_Mutation_p.H222Y|ZNF143_ENST00000299606.2_Missense_Mutation_p.H225Y|ZNF143_ENST00000396604.1_Missense_Mutation_p.H252Y	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	253					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H253Y(1)		endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		AACAGCTCATCATCTCAAGGT	0.323																																						uc001mhr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(757-759)CAT>TAT		zinc finger protein 143							75.0	75.0	75.0					11																	9516304		2201	4294	6495	SO:0001583	missense	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9516304C>T	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.757C>T	11.37:g.9516304C>T	ENSP00000379847:p.His253Tyr					ZNF143_uc009yfu.2_Missense_Mutation_p.H252Y|ZNF143_uc010rby.1_Missense_Mutation_p.H222Y	p.H253Y	NM_003442	NP_003433	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	8	875	+			253			C2H2-type 1.		A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	ENST00000396602.2	37	c.757C>T	CCDS7799.2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873873	0.91664	.	.	ENSG00000166478	ENST00000396604;ENST00000396602;ENST00000530463;ENST00000396597;ENST00000299606	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.33177	0.0854	N	0.25957	0.775	0.80722	D	1	P;P;D	0.62365	0.908;0.925;0.991	D;D;D	0.76575	0.922;0.954;0.988	T	0.01961	-1.1239	10	0.59425	D	0.04	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	222;252;253	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	Y	252;253;252;222;225	ENSP00000379849:H252Y;ENSP00000379847:H253Y;ENSP00000432154:H252Y;ENSP00000379843:H222Y;ENSP00000299606:H225Y	ENSP00000299606:H225Y	H	+	1	0	ZNF143	9472880	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.489000	0.81451	2.882000	0.98803	0.655000	0.94253	CAT		PASS	0.323	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		9	45	9	45	---	---	---	---
OR10AG1	282770	broad.mit.edu	37	11	55735795	55735795	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr11:55735795G>T	ENST00000312345.2	-	1	195	c.145C>A	c.(145-147)Ccc>Acc	p.P49T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P49T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAATACATGGGAGTCTGGAGA	0.338																																						uc010rit.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(145-147)CCC>ACC		olfactory receptor, family 10, subfamily AG,							51.0	59.0	57.0					11																	55735795		2200	4294	6494	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735795G>T	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.145C>A	11.37:g.55735795G>T	ENSP00000311477:p.Pro49Thr						p.P49T	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	145	-	Esophageal squamous(21;0.0137)		49			Helical; Name=2; (Potential).		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.145C>A	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.306993	0.60305	.	.	ENSG00000174970	ENST00000312345	T	0.02032	4.49	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.132648	0.34906	N	0.003595	T	0.23965	0.0580	H	0.97874	4.095	0.48040	D	0.999572	D	0.67145	0.996	D	0.72625	0.978	T	0.43540	-0.9385	10	0.87932	D	0	.	16.5486	0.84457	0.0:0.0:1.0:0.0	.	49	Q8NH19	O10AG_HUMAN	T	49	ENSP00000311477:P49T	ENSP00000311477:P49T	P	-	1	0	OR10AG1	55492371	1.000000	0.71417	0.919000	0.36401	0.299000	0.27559	6.925000	0.75829	2.506000	0.84524	0.398000	0.26397	CCC		PASS	0.338	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		18	22	18	22	---	---	---	---
OR5AK2	390181	broad.mit.edu	37	11	56757107	56757107	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr11:56757107C>T	ENST00000326855.2	+	1	761	c.719C>T	c.(718-720)aCa>aTa	p.T240I		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T240I(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TCCTTCTCAACATGTGCTTCC	0.413																																						uc010rjp.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(718-720)ACA>ATA		olfactory receptor, family 5, subfamily AK,							121.0	112.0	115.0					11																	56757107		2201	4296	6497	SO:0001583	missense	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56757107C>T	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.719C>T	11.37:g.56757107C>T	ENSP00000322784:p.Thr240Ile						p.T240I	NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN			1	719	+			240			Helical; Name=6; (Potential).		B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	c.719C>T	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626252	0.46840	.	.	ENSG00000181273	ENST00000326855	T	0.42513	0.97	3.97	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000813	T	0.72350	0.3449	M	0.93854	3.465	0.45962	D	0.998785	D	0.89917	1.0	D	0.97110	1.0	T	0.81499	-0.0905	10	0.87932	D	0	-38.1618	15.1929	0.73060	0.0:1.0:0.0:0.0	.	240	Q8NH90	O5AK2_HUMAN	I	240	ENSP00000322784:T240I	ENSP00000322784:T240I	T	+	2	0	OR5AK2	56513683	1.000000	0.71417	0.948000	0.38648	0.051000	0.14879	5.782000	0.68973	2.208000	0.71279	0.400000	0.26472	ACA		PASS	0.413	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		62	34	62	34	---	---	---	---
ATG2A	23130	broad.mit.edu	37	11	64678310	64678310	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr11:64678310G>C	ENST00000377264.3	-	11	1695	c.1583C>G	c.(1582-1584)cCc>cGc	p.P528R	ATG2A_ENST00000421419.2_Missense_Mutation_p.P528R	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	528					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.P528R(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGTGCCCCGGGGCCACAGACA	0.672																																						uc001obx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1582-1584)CCC>CGC		autophagy related 2A							25.0	31.0	29.0					11																	64678310		2199	4292	6491	SO:0001583	missense	23130						protein binding	g.chr11:64678310G>C		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1583C>G	11.37:g.64678310G>C	ENSP00000366475:p.Pro528Arg						p.P528R	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			11	1698	-			528					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.1583C>G	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033548	0.54896	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.07444	3.19;3.19	5.11	5.11	0.69529	.	0.209202	0.42548	D	0.000698	T	0.10594	0.0259	L	0.53249	1.67	0.33175	D	0.548756	P	0.48764	0.915	B	0.39339	0.297	T	0.10941	-1.0608	10	0.72032	D	0.01	.	14.4207	0.67180	0.0:0.0:1.0:0.0	.	528	Q2TAZ0	ATG2A_HUMAN	R	528	ENSP00000410522:P528R;ENSP00000366475:P528R	ENSP00000366475:P528R	P	-	2	0	ATG2A	64434886	1.000000	0.71417	0.999000	0.59377	0.522000	0.34438	5.396000	0.66297	2.550000	0.86006	0.462000	0.41574	CCC		PASS	0.672	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		8	3	8	3	---	---	---	---
PPP2R5B	5526	broad.mit.edu	37	11	64693371	64693371	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr11:64693371C>G	ENST00000164133.2	+	2	787	c.165C>G	c.(163-165)aaC>aaG	p.N55K		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	55					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.N55K(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						ATCAGAGCAACCAGCAAGAGC	0.692																																						uc001oby.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(163-165)AAC>AAG		beta isoform of regulatory subunit B56, protein							21.0	22.0	21.0					11																	64693371		2200	4296	6496	SO:0001583	missense	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64693371C>G	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.165C>G	11.37:g.64693371C>G	ENSP00000164133:p.Asn55Lys					PPP2R5B_uc001obz.2_Missense_Mutation_p.N55K	p.N55K	NM_006244	NP_006235	Q15173	2A5B_HUMAN			2	750	+			55					Q13853	Missense_Mutation	SNP	ENST00000164133.2	37	c.165C>G	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	C	6.208	0.406577	0.11754	.	.	ENSG00000068971	ENST00000526559;ENST00000164133;ENST00000359279;ENST00000527441	.	.	.	3.89	1.97	0.26223	.	0.298555	0.31821	N	0.007016	T	0.14485	0.0350	N	0.02539	-0.55	0.37798	D	0.927593	B	0.02656	0.0	B	0.04013	0.001	T	0.24941	-1.0146	9	0.02654	T	1	-19.0199	3.5957	0.08005	0.1957:0.586:0.0:0.2183	.	55	Q15173	2A5B_HUMAN	K	55;55;82;55	.	ENSP00000164133:N55K	N	+	3	2	PPP2R5B	64449947	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	1.406000	0.34646	0.436000	0.26393	-0.310000	0.09108	AAC		PASS	0.692	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		9	7	9	7	---	---	---	---
KDM2A	22992	broad.mit.edu	37	11	67017759	67017759	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr11:67017759G>A	ENST00000529006.2	+	17	2704	c.2258G>A	c.(2257-2259)cGc>cAc	p.R753H	KDM2A_ENST00000530342.1_Missense_Mutation_p.R314H|KDM2A_ENST00000308783.5_Missense_Mutation_p.R211H|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.R753H	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	753					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.R753H(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGTGCCAGCCGCGATGAGCGC	0.632																																						uc001ojw.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)|breast(1)|skin(1)	9						c.(2257-2259)CGC>CAC		F-box and leucine-rich repeat protein 11							28.0	33.0	32.0					11																	67017759		1969	4141	6110	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67017759G>A	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2258G>A	11.37:g.67017759G>A	ENSP00000432786:p.Arg753His					KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.R447H|KDM2A_uc010rpn.1_Missense_Mutation_p.R314H|KDM2A_uc001ojz.1_Missense_Mutation_p.R211H|KDM2A_uc001oka.2_5'Flank	p.R753H	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN			17	3122	+			753					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.2258G>A	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144463	0.94603	.	.	ENSG00000173120	ENST00000398645;ENST00000529006;ENST00000530342;ENST00000446134;ENST00000308783	T;T;T;T	0.53423	0.62;0.8;0.8;0.8	6.02	6.02	0.97574	.	0.214578	0.48286	D	0.000186	T	0.63236	0.2494	L	0.44542	1.39	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.98	T	0.61098	-0.7131	10	0.56958	D	0.05	-12.5171	18.7178	0.91682	0.0:0.0:1.0:0.0	.	211;753	D4QA03;Q9Y2K7	.;KDM2A_HUMAN	H	753;753;314;314;211	ENSP00000381640:R753H;ENSP00000432786:R753H;ENSP00000435776:R314H;ENSP00000309302:R211H	ENSP00000309302:R211H	R	+	2	0	KDM2A	66774335	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	7.549000	0.82163	2.857000	0.98124	0.650000	0.86243	CGC		PASS	0.632	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		13	13	13	13	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89413808	89413808	+	RNA	SNP	A	A	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr11:89413808A>G	ENST00000532352.1	+	0	1293							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.P160P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATTGTACACCACTGATGTACA	0.294																																						uc001pda.2																			3	Substitution - coding silent(3)		lung(2)|kidney(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(478-480)CCA>CCG		folate hydrolase 1B							43.0	43.0	43.0					11																	89413808		2201	4293	6494			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89413808A>G	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89413808A>G							p.P160P	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			8	1006	+			160						Silent	SNP	ENST00000532352.1	37	c.480A>G																																																																																					PASS	0.294	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		4	19	4	19	---	---	---	---
PANX3	116337	broad.mit.edu	37	11	124481559	124481559	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr11:124481559G>A	ENST00000284288.2	+	1	174	c.107G>A	c.(106-108)cGg>cAg	p.R36Q		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	36					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)	p.R36Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CCCCTGGACCGGATAGTCAAG	0.597																																						uc001qah.2																			1	Substitution - Missense(1)		lung(1)		0						c.(106-108)CGG>CAG		pannexin 3							92.0	95.0	94.0					11																	124481559		2201	4299	6500	SO:0001583	missense	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124481559G>A	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.107G>A	11.37:g.124481559G>A	ENSP00000284288:p.Arg36Gln						p.R36Q	NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	1	107	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	36			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000284288.2	37	c.107G>A	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.152908	0.38021	.	.	ENSG00000154143	ENST00000284288	T	0.29397	1.57	4.88	-1.35	0.09114	.	0.316678	0.33938	N	0.004415	T	0.25344	0.0616	L	0.53249	1.67	0.09310	N	0.999996	B	0.13594	0.008	B	0.12156	0.007	T	0.22277	-1.0221	10	0.59425	D	0.04	-3.1069	9.7006	0.40184	0.4244:0.0:0.5756:0.0	.	36	Q96QZ0	PANX3_HUMAN	Q	36	ENSP00000284288:R36Q	ENSP00000284288:R36Q	R	+	2	0	PANX3	123986769	1.000000	0.71417	0.019000	0.16419	0.751000	0.42716	2.360000	0.44151	-0.468000	0.06922	-0.136000	0.14681	CGG		PASS	0.597	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			33	13	33	13	---	---	---	---
MLF2	8079	broad.mit.edu	37	12	6859057	6859057	+	Silent	SNP	C	C	A	rs201104363	byFrequency	TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr12:6859057C>A	ENST00000203630.5	-	7	1160	c.516G>T	c.(514-516)acG>acT	p.T172T	MLF2_ENST00000564181.1_5'Flank|MLF2_ENST00000542154.1_Silent_p.T172T|MLF2_ENST00000435120.1_Silent_p.T172T|MLF2_ENST00000539187.1_Silent_p.T172T			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	172					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T172T(1)		kidney(2)|large_intestine(3)|lung(4)	9						CCTGGTCCCCCGTGCGATGGT	0.612																																						uc010sfi.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(514-516)ACG>ACT		myeloid leukemia factor 2							109.0	91.0	97.0					12																	6859057		2203	4300	6503	SO:0001819	synonymous_variant	8079				defense response	cytoplasm|nucleus	protein binding	g.chr12:6859057C>A	U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.516G>T	12.37:g.6859057C>A						MLF2_uc001qqp.2_Silent_p.T172T|MLF2_uc009zey.1_Silent_p.T172T	p.T172T	NM_005439	NP_005430	Q15773	MLF2_HUMAN			7	579	-			172						Silent	SNP	ENST00000203630.5	37	c.516G>T	CCDS8559.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502929	0.26949	.	.	ENSG00000089693	ENST00000537126	.	.	.	5.83	-11.7	0.00046	.	.	.	.	.	T	0.63034	0.2477	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80908	-0.1172	5	0.87932	D	0	.	11.3127	0.49372	0.0696:0.0898:0.1311:0.7095	.	.	.	.	L	183	.	ENSP00000439789:R183L	R	-	2	0	MLF2	6729318	0.000000	0.05858	0.093000	0.20910	0.970000	0.65996	-2.378000	0.01068	-3.057000	0.00258	-1.069000	0.02264	CGG		PASS	0.612	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2			3	68	3	68	---	---	---	---
TPI1	7167	broad.mit.edu	37	12	6979288	6979288	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr12:6979288A>G	ENST00000229270.4	+	6	1067	c.730A>G	c.(730-732)Atc>Gtc	p.I244V	TPI1_ENST00000396705.5_Missense_Mutation_p.I207V|TPI1_ENST00000535434.1_Missense_Mutation_p.I125V|TPI1_ENST00000488464.2_Missense_Mutation_p.I125V	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	244					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)	p.I244V(1)|p.I207V(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						GAGCACCCGTATCATTTATGG	0.572											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qrk.2																			2	Substitution - Missense(2)		lung(2)		0						c.(619-621)ATC>GTC		triosephosphate isomerase 1 isoform 1							114.0	110.0	111.0					12																	6979288		2203	4300	6503	SO:0001583	missense	7167				fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	g.chr12:6979288A>G		CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.730A>G	12.37:g.6979288A>G	ENSP00000229270:p.Ile244Val		OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	TPI1_uc010sfo.1_Missense_Mutation_p.I125V	p.I207V	NM_000365	NP_000356	P60174	TPIS_HUMAN			6	657	+			207					B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Missense_Mutation	SNP	ENST00000229270.4	37	c.619A>G	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214447	0.79352	.	.	ENSG00000111669	ENST00000229270;ENST00000396705;ENST00000535434	D;D;D	0.95588	-3.75;-3.75;-3.75	5.44	5.44	0.79542	Aldolase-type TIM barrel (1);	0.000000	0.85682	U	0.000000	D	0.97084	0.9047	M	0.79123	2.44	0.80722	D	1	P	0.52316	0.952	P	0.60949	0.881	D	0.97246	0.9894	10	0.54805	T	0.06	.	14.3208	0.66484	1.0:0.0:0.0:0.0	.	244	P60174	TPIS_HUMAN	V	244;207;125	ENSP00000229270:I244V;ENSP00000379933:I207V;ENSP00000443599:I125V	ENSP00000229270:I244V	I	+	1	0	TPI1	6849549	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	4.227000	0.58612	2.063000	0.61619	0.379000	0.24179	ATC		PASS	0.572	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	NM_000365		33	50	33	50	---	---	---	---
CD69	969	broad.mit.edu	37	12	9913369	9913369	+	Silent	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr12:9913369C>A	ENST00000228434.3	-	1	128	c.48G>T	c.(46-48)ccG>ccT	p.P16P	CD69_ENST00000536709.1_Silent_p.P16P	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	16					cellular response to drug (GO:0035690)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.P16P(1)		endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						GTCCACTCTCCGGATGCAAAG	0.368																																						uc001qwk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(46-48)CCG>CCT		CD69 molecule							156.0	142.0	147.0					12																	9913369		2203	4300	6503	SO:0001819	synonymous_variant	969					integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:9913369C>A	Z22576	CCDS8604.1	12p13	2011-08-30	2006-03-28		ENSG00000110848	ENSG00000110848		"""C-type lectin domain containing"", ""CD molecules"""	1694	protein-coding gene	gene with protein product		107273	"""CD69 antigen (p60, early T-cell activation antigen)"""			1612643	Standard	NM_001781		Approved	CLEC2C	uc001qwk.3	Q07108	OTTHUMG00000168481	ENST00000228434.3:c.48G>T	12.37:g.9913369C>A						CD69_uc010sgu.1_Silent_p.P16P|CD69_uc010sgv.1_Silent_p.P16P	p.P16P	NM_001781	NP_001772	Q07108	CD69_HUMAN			1	129	-			16			Cytoplasmic (Potential).			Silent	SNP	ENST00000228434.3	37	c.48G>T	CCDS8604.1																																																																																				PASS	0.368	CD69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399876.1			4	108	4	108	---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14610203	14610203	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr12:14610203C>A	ENST00000540793.1	+	7	2287	c.2132C>A	c.(2131-2133)cCa>cAa	p.P711Q	ATF7IP_ENST00000543189.1_Missense_Mutation_p.P710Q|ATF7IP_ENST00000544627.1_Missense_Mutation_p.P719Q|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P711Q|ATF7IP_ENST00000541654.1_Intron|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P710Q			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	711	Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.P711Q(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGTGCACCACCATCCTTTCAA	0.343																																						uc001rbw.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|skin(1)	5						c.(2131-2133)CCA>CAA		activating transcription factor 7 interacting							114.0	111.0	112.0					12																	14610203		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14610203C>A	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2132C>A	12.37:g.14610203C>A	ENSP00000444589:p.Pro711Gln					ATF7IP_uc010shs.1_Intron|ATF7IP_uc001rbu.2_Missense_Mutation_p.P711Q|ATF7IP_uc001rbv.1_Missense_Mutation_p.P710Q|ATF7IP_uc001rbx.2_Missense_Mutation_p.P710Q|ATF7IP_uc010sht.1_Intron|ATF7IP_uc001rby.3_Missense_Mutation_p.P711Q|ATF7IP_uc001rca.2_Missense_Mutation_p.P711Q	p.P711Q	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			8	2290	+			711			Interaction with SETDB1.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.2132C>A	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408752	0.83340	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.21361	2.01;2.03;2.01;2.02;2.01	5.75	5.75	0.90469	.	0.577237	0.17802	N	0.161517	T	0.33235	0.0856	L	0.51422	1.61	0.39222	D	0.963526	P;P;D;D	0.53151	0.859;0.859;0.958;0.958	B;B;P;P	0.48704	0.387;0.387;0.587;0.587	T	0.06481	-1.0824	10	0.72032	D	0.01	-2.3745	20.312	0.98644	0.0:1.0:0.0:0.0	.	710;711;710;322	G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;MCAF1_HUMAN;.;.	Q	711;710;710;719;711	ENSP00000261168:P711Q;ENSP00000443179:P710Q;ENSP00000445955:P710Q;ENSP00000440440:P719Q;ENSP00000444589:P711Q	ENSP00000261168:P711Q	P	+	2	0	ATF7IP	14501470	0.219000	0.23619	0.957000	0.39632	0.998000	0.95712	3.525000	0.53502	2.866000	0.98385	0.650000	0.86243	CCA		PASS	0.343	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		13	27	13	27	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49434608	49434608	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr12:49434608G>C	ENST00000301067.7	-	31	6944	c.6945C>G	c.(6943-6945)caC>caG	p.H2315Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2315	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.H2315Q(1)|p.H2045Q(1)									GGCCACCCAGGTGGGTGCCTG	0.612																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(6943-6945)CAC>CAG		myeloid/lymphoid or mixed-lineage leukemia 2							23.0	25.0	25.0					12																	49434608		1845	4091	5936	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49434608G>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6945C>G	12.37:g.49434608G>C	ENSP00000301067:p.His2315Gln	HNSCC(34;0.089)					p.H2315Q	NM_003482	NP_003473	O14686	MLL2_HUMAN			31	6945	-			2315			Pro-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.6945C>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	8.964	0.971346	0.18736	.	.	ENSG00000167548	ENST00000301067	T	0.78707	-1.2	5.07	3.2	0.36748	.	0.000000	0.40469	N	0.001088	T	0.64483	0.2602	N	0.08118	0	0.25733	N	0.98525	D	0.56968	0.978	P	0.49140	0.601	T	0.60301	-0.7290	10	0.87932	D	0	.	9.8672	0.41152	0.1679:0.0:0.8321:0.0	.	2315	O14686	MLL2_HUMAN	Q	2315	ENSP00000301067:H2315Q	ENSP00000301067:H2315Q	H	-	3	2	MLL2	47720875	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.790000	0.26900	0.630000	0.30394	0.655000	0.94253	CAC		PASS	0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	16	4	16	---	---	---	---
OSBPL8	114882	broad.mit.edu	37	12	76791654	76791654	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr12:76791654C>A	ENST00000261183.3	-	8	971	c.492G>T	c.(490-492)tgG>tgT	p.W164C	OSBPL8_ENST00000393250.4_Missense_Mutation_p.W122C|OSBPL8_ENST00000393249.2_Missense_Mutation_p.W122C	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	164	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)	p.W164C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ATAACTTGGTCCAGCTCTTTA	0.378																																						uc001sye.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(490-492)TGG>TGT		oxysterol-binding protein-like protein 8 isoform							86.0	79.0	81.0					12																	76791654		2203	4300	6503	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76791654C>A	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.492G>T	12.37:g.76791654C>A	ENSP00000261183:p.Trp164Cys					OSBPL8_uc001syf.1_Missense_Mutation_p.W122C|OSBPL8_uc001syg.1_Missense_Mutation_p.W122C|OSBPL8_uc001syh.1_Missense_Mutation_p.W139C	p.W164C	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN			8	972	-			164			PH.		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.492G>T	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756643	0.89843	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946;ENST00000548341	T;T;T;T;T;T	0.80214	-1.35;1.5;-1.35;1.5;-1.35;1.5	5.64	5.64	0.86602	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.90356	0.6982	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90907	0.4773	10	0.87932	D	0	-4.4892	19.7126	0.96102	0.0:1.0:0.0:0.0	.	139;164	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	C	122;164;149;122;164;164;139;151	ENSP00000376939:W122C;ENSP00000261183:W164C;ENSP00000376940:W122C;ENSP00000450238:W164C;ENSP00000447893:W139C;ENSP00000446886:W151C	ENSP00000261183:W164C	W	-	3	0	OSBPL8	75315785	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.664000	0.90586	0.650000	0.86243	TGG		PASS	0.378	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		16	26	16	26	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78513708	78513708	+	Silent	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr12:78513708C>T	ENST00000397909.2	+	15	3905	c.3732C>T	c.(3730-3732)gcC>gcT	p.A1244A	NAV3_ENST00000228327.6_Silent_p.A1244A|NAV3_ENST00000536525.2_Silent_p.A1244A|NAV3_ENST00000266692.7_Silent_p.A1244A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1244	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.A1244A(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						CAGATATTGCCTCACCCACAT	0.428										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.(3730-3732)GCC>GCT		neuron navigator 3							50.0	49.0	49.0					12																	78513708		1870	4116	5986	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513708C>T	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.3732C>T	12.37:g.78513708C>T		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.A1244A|NAV3_uc010sub.1_Silent_p.A744A|NAV3_uc009zsf.2_Silent_p.A252A	p.A1244A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			15	3905	+			1244			Ser-rich.		Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.3732C>T		.	.	.	.	.	.	.	.	.	.	C	7.427	0.637840	0.14386	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.31	1.44	0.22558	.	.	.	.	.	T	0.46171	0.1379	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24584	-1.0156	4	.	.	.	-16.0951	4.2839	0.10846	0.3235:0.4041:0.0:0.2724	.	.	.	.	F	316	.	.	L	+	1	0	NAV3	77037839	0.586000	0.26782	1.000000	0.80357	0.923000	0.55619	-0.255000	0.08769	0.237000	0.21200	-0.169000	0.13324	CTC		PASS	0.428	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		10	23	10	23	---	---	---	---
ACSS3	79611	broad.mit.edu	37	12	81545666	81545666	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr12:81545666G>T	ENST00000548058.1	+	6	1875	c.965G>T	c.(964-966)tGg>tTg	p.W322L	ACSS3_ENST00000548324.1_Missense_Mutation_p.W4L|ACSS3_ENST00000261206.3_Missense_Mutation_p.W321L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	322						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.W322L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ATGCTACACTGGTCAATGTCT	0.353																																						uc001szl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(964-966)TGG>TTG		acyl-CoA synthetase short-chain family member 3							145.0	138.0	140.0					12																	81545666		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81545666G>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.965G>T	12.37:g.81545666G>T	ENSP00000449535:p.Trp322Leu					ACSS3_uc001szm.1_Missense_Mutation_p.W321L|ACSS3_uc001szn.1_Missense_Mutation_p.W4L	p.W322L	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			6	1056	+			322					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.965G>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772896	0.90108	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.43294	1.28;1.28;0.95	5.63	5.63	0.86233	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	N	0.12637	0.245	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.956;0.998	T	0.56914	-0.7900	10	0.54805	T	0.06	-12.8248	19.6777	0.95943	0.0:0.0:1.0:0.0	.	4;322	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	L	322;321;4	ENSP00000449535:W322L;ENSP00000261206:W321L;ENSP00000448965:W4L	ENSP00000261206:W321L	W	+	2	0	ACSS3	80069797	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	9.021000	0.93673	2.669000	0.90835	0.650000	0.86243	TGG		PASS	0.353	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		13	35	13	35	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104097022	104097022	+	Silent	SNP	A	A	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr12:104097022A>C	ENST00000388887.2	+	35	4015	c.3811A>C	c.(3811-3813)Aga>Cga	p.R1271R		NM_017564.9	NP_060034.9			stabilin 2									p.R1271R(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCAGAAGAACAGATGTGATAA	0.373																																						uc001tjw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(5)	14						c.(3811-3813)AGA>CGA		stabilin 2 precursor							103.0	98.0	100.0					12																	104097022		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104097022A>C	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3811A>C	12.37:g.104097022A>C							p.R1271R	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			35	3997	+			1271			Extracellular (Potential).			Silent	SNP	ENST00000388887.2	37	c.3811A>C	CCDS31888.1																																																																																				PASS	0.373	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			18	40	18	40	---	---	---	---
GJB2	2706	broad.mit.edu	37	13	20763463	20763463	+	Silent	SNP	C	C	A	rs139362103		TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr13:20763463C>A	ENST00000382844.1	-	1	456	c.258G>T	c.(256-258)acG>acT	p.T86T	GJB2_ENST00000382848.4_Silent_p.T86T			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	86			T -> R (in DFNB1A; does not form gap junctions since the mutated protein is confined in the cytoplasm and not transported to the cell membrane; when the mutation is coexpressed with the wild-type protein ionic and biochemical coupling is normal consistent with the recessive nature of the mutation). {ECO:0000269|PubMed:12560944, ECO:0000269|PubMed:19384972}.	T -> S (in Ref. 1; AAD21314). {ECO:0000305}.	cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)	p.T86T(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		GGAGCGCTGGCGTGGACACGA	0.557									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001umy.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(256-258)ACG>ACT		gap junction protein beta 2		C		2,4404	4.2+/-10.8	0,2,2201	102.0	89.0	93.0		258	-8.8	0.3	13	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous	GJB2	NM_004004.5		0,2,6501	AA,AC,CC		0.0,0.0454,0.0154		86/227	20763463	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2706	Keratitis_Ichthyosis_and_Deafness_syndrome	Familial Cancer Database	KID syndrome	cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane		g.chr13:20763463C>A	M86849	CCDS9290.1	13q11-q12	2010-01-06	2007-01-16		ENSG00000165474	ENSG00000165474		"""Ion channels / Gap junction proteins (connexins)"""	4284	protein-coding gene	gene with protein product	"""connexin 26"""	121011	"""gap junction protein, beta 2, 26kD (connexin 26)"", ""gap junction protein, beta 2, 26kDa (connexin 26)"""	DFNB1, DFNA3		9139825	Standard	NM_004004		Approved	CX26, NSRD1	uc001umy.3	P29033	OTTHUMG00000016513	ENST00000382844.1:c.258G>T	13.37:g.20763463C>A			OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	743		p.T86T	NM_004004	NP_003995	P29033	CXB2_HUMAN		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)	2	473	-		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	86	T -> S (in Ref. 1; AAD21314).	T -> R (in DFNB1A; does not form gap junctions since the mutated protein is confined in the cytoplasm and not transported to the cell membrane; when the mutation is co-expressed with the wild-type protein ionic and biochemical coupling is normal consistent with the recessive nature of the mutation).	Helical; (Potential).		Q508A5|Q508A6|Q5YLL0|Q5YLL1|Q5YLL4|Q6IPV5|Q86U88|Q96AK0|Q9H536|Q9NNY4	Silent	SNP	ENST00000382844.1	37	c.258G>T	CCDS9290.1																																																																																				PASS	0.557	GJB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044064.1			4	32	4	32	---	---	---	---
KLF12	11278	broad.mit.edu	37	13	74269769	74269769	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr13:74269769C>T	ENST00000377669.2	-	7	1093	c.1067G>A	c.(1066-1068)tGg>tAg	p.W356*	KLF12_ENST00000377666.4_Nonsense_Mutation_p.W356*	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	356					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.W356*(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		AGCGAACTTCCAGGTGCAGCC	0.512																																						uc001vjf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1066-1068)TGG>TAG		Kruppel-like factor 12							120.0	100.0	107.0					13																	74269769		2203	4300	6503	SO:0001587	stop_gained	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74269769C>T	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.1067G>A	13.37:g.74269769C>T	ENSP00000366897:p.Trp356*					KLF12_uc010aeq.2_Nonsense_Mutation_p.W356*	p.W356*	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	8	1289	-		Prostate(6;0.00217)|Breast(118;0.0838)	356			C2H2-type 2.		A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Nonsense_Mutation	SNP	ENST00000377669.2	37	c.1067G>A	CCDS9449.1	.	.	.	.	.	.	.	.	.	.	C	37	6.130553	0.97310	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	.	.	.	X	356	.	ENSP00000344057:W356X	W	-	2	0	KLF12	73167770	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	TGG		PASS	0.512	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		11	41	11	41	---	---	---	---
F10	2159	broad.mit.edu	37	13	113803804	113803804	+	Silent	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr13:113803804G>A	ENST00000375559.3	+	8	1478	c.1440G>A	c.(1438-1440)gaG>gaA	p.E480E	F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	480	O-glycosylated at one site.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)	p.E480E(1)		endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	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_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	ATGCCCCGGAGGTCATAACGT	0.577																																						uc001vsx.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1438-1440)GAG>GAA		coagulation factor X preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						109.0	94.0	99.0					13																	113803804		2203	4300	6503	SO:0001819	synonymous_variant	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803804G>A		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1440G>A	13.37:g.113803804G>A						F10_uc001vsy.2_3'UTR|F10_uc001vsz.2_3'UTR	p.E480E	NM_000504	NP_000495	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1497	+	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_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	480					Q14340	Silent	SNP	ENST00000375559.3	37	c.1440G>A	CCDS9530.1																																																																																				PASS	0.577	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			13	53	13	53	---	---	---	---
ACTR10	55860	broad.mit.edu	37	14	58681996	58681996	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr14:58681996G>A	ENST00000254286.4	+	7	672	c.592G>A	c.(592-594)Gtg>Atg	p.V198M		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	198					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)		p.V198M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CCTTCCCTCAGTGATGGGTAA	0.348																																						uc001xdf.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(592-594)GTG>ATG		uncharacterized hypothalamus protein HARP11							123.0	122.0	122.0					14																	58681996		2203	4300	6503	SO:0001583	missense	55860					cytoplasm		g.chr14:58681996G>A	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.592G>A	14.37:g.58681996G>A	ENSP00000254286:p.Val198Met					C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_Translation_Start_Site|ACTR10_uc001xdh.2_Translation_Start_Site|ACTR10_uc010trp.1_RNA|ACTR10_uc010apc.2_Translation_Start_Site	p.V198M	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN			7	695	+			198					Q9H9Y5|Q9NWY2	Missense_Mutation	SNP	ENST00000254286.4	37	c.592G>A	CCDS32090.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788682	0.70337	.	.	ENSG00000131966	ENST00000543474;ENST00000254286	D	0.94576	-3.46	5.7	4.79	0.61399	.	0.172802	0.49916	D	0.000121	D	0.95996	0.8696	M	0.64997	1.995	0.48087	D	0.999581	D	0.58970	0.984	P	0.62649	0.905	D	0.96162	0.9116	10	0.87932	D	0	-14.1244	13.382	0.60773	0.0:0.0:0.8424:0.1576	.	198	Q9NZ32	ARP10_HUMAN	M	198	ENSP00000254286:V198M	ENSP00000254286:V198M	V	+	1	0	ACTR10	57751749	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	6.705000	0.74644	1.377000	0.46286	0.650000	0.86243	GTG		PASS	0.348	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1			3	35	3	35	---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60072158	60072158	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr14:60072158C>A	ENST00000267484.5	-	5	2375	c.2040G>T	c.(2038-2040)caG>caT	p.Q680H	RTN1_ENST00000342503.4_Missense_Mutation_p.Q112H|RTN1_ENST00000395090.1_Missense_Mutation_p.Q97H|RTN1_ENST00000557422.1_Intron	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	680	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.Q680H(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCACGTAGAACTGCAGGCAGT	0.478																																						uc001xen.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(2038-2040)CAG>CAT		reticulon 1 isoform A							108.0	93.0	98.0					14																	60072158		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60072158C>A	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.2040G>T	14.37:g.60072158C>A	ENSP00000267484:p.Gln680His					RTN1_uc001xem.1_Missense_Mutation_p.Q260H|RTN1_uc001xek.1_Missense_Mutation_p.Q112H|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Missense_Mutation_p.Q97H	p.Q680H	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	5	2249	-			680			Reticulon.		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.2040G>T	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379793	0.82682	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.40756	1.02;1.02;1.02	5.68	3.84	0.44239	.	0.173403	0.52532	D	0.000075	T	0.56601	0.1996	L	0.60455	1.87	0.46317	D	0.998981	P;D;P	0.89917	0.941;1.0;0.927	P;D;P	0.87578	0.796;0.998;0.694	T	0.55879	-0.8071	10	0.66056	D	0.02	.	8.6603	0.34088	0.0:0.7639:0.0:0.2361	.	97;680;112	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	H	260;680;97;112;606	ENSP00000267484:Q680H;ENSP00000378525:Q97H;ENSP00000340716:Q112H	ENSP00000267484:Q680H	Q	-	3	2	RTN1	59141911	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.793000	0.38764	0.742000	0.32697	0.549000	0.68633	CAG		PASS	0.478	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			34	20	34	20	---	---	---	---
ACOT2	10965	broad.mit.edu	37	14	74036495	74036495	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr14:74036495A>G	ENST00000238651.5	+	1	733	c.551A>G	c.(550-552)cAg>cGg	p.Q184R	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	184					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.Q184R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CTGCTGTGCCAGACGCGGCAC	0.736																																						uc001xon.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(550-552)CAG>CGG		acyl-CoA thioesterase 2							8.0	8.0	8.0					14																	74036495		1969	3916	5885	SO:0001583	missense	10965				acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	g.chr14:74036495A>G	AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.551A>G	14.37:g.74036495A>G	ENSP00000238651:p.Gln184Arg					ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_Intron	p.Q184R	NM_006821	NP_006812	P49753	ACOT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)	1	724	+			184					Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	ENST00000238651.5	37	c.551A>G	CCDS9816.1	.	.	.	.	.	.	.	.	.	.	a	0.003	-2.480974	0.00165	.	.	ENSG00000119673	ENST00000238651	T	0.68903	-0.36	3.38	-5.62	0.02481	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	1.593530	0.03297	N	0.188505	T	0.34250	0.0891	N	0.03903	-0.33	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46721	-0.9171	10	0.02654	T	1	-1.4083	6.8001	0.23746	0.5192:0.1242:0.3566:0.0	.	184	P49753	ACOT2_HUMAN	R	184	ENSP00000238651:Q184R	ENSP00000238651:Q184R	Q	+	2	0	ACOT2	73106248	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.847000	0.04331	-1.092000	0.03062	-3.237000	0.00051	CAG		PASS	0.736	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1	NM_006821		3	6	3	6	---	---	---	---
EML5	161436	broad.mit.edu	37	14	89202760	89202760	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr14:89202760C>A	ENST00000380664.5	-	7	996	c.997G>T	c.(997-999)Gtc>Ttc	p.V333F	EML5_ENST00000554922.1_Missense_Mutation_p.V333F|EML5_ENST00000352093.5_Missense_Mutation_p.V333F			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	333						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.V333F(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTAGGATGGACAGCAAGTGCC	0.388																																						uc001xxg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(997-999)GTC>TTC		echinoderm microtubule associated protein like							220.0	213.0	215.0					14																	89202760		1940	4131	6071	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89202760C>A	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.997G>T	14.37:g.89202760C>A	ENSP00000370039:p.Val333Phe						p.V333F	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			8	1183	-			333			WD 7.		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.997G>T	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583781	0.46006	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.51817	0.69;0.69;0.69	5.06	-1.27	0.09347	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.452396	0.21637	N	0.071399	T	0.28067	0.0692	N	0.04686	-0.185	0.46609	D	0.999125	P	0.40731	0.728	P	0.49012	0.598	T	0.16247	-1.0409	10	0.02654	T	1	-0.7569	11.7356	0.51763	0.0:0.7332:0.0:0.2668	.	333	Q05BV3	EMAL5_HUMAN	F	333	ENSP00000451998:V333F;ENSP00000298315:V333F;ENSP00000370039:V333F	ENSP00000298315:V333F	V	-	1	0	EML5	88272513	0.892000	0.30473	0.932000	0.37286	0.943000	0.58893	0.828000	0.27435	-0.476000	0.06842	-0.218000	0.12543	GTC		PASS	0.388	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			16	110	16	110	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102507987	102507987	+	Silent	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr14:102507987C>T	ENST00000360184.4	+	65	12182	c.12018C>T	c.(12016-12018)caC>caT	p.H4006H	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4006	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.H4006H(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCATGGCCCACATGTTTGTTT	0.577																																						uc001yks.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(12016-12018)CAC>CAT		cytoplasmic dynein 1 heavy chain 1							107.0	104.0	105.0					14																	102507987		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102507987C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12018C>T	14.37:g.102507987C>T							p.H4006H	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			65	12182	+			4006			AAA 6 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.12018C>T	CCDS9966.1																																																																																				PASS	0.577	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		29	129	29	129	---	---	---	---
IGHV3-30	28439	broad.mit.edu	37	14	106790997	106790997	+	RNA	SNP	A	A	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr14:106790997A>T	ENST00000390613.2	-	0	431									immunoglobulin heavy variable 3-30																		ACTTCCCCTCACTGTGTCTCT	0.557																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							213.0	250.0	238.0					14																	106790997		2077	4219	6296			8755							g.chr14:106790997A>T	M83134		14q32.33	2012-02-08			ENSG00000211953	ENSG00000270550		"""Immunoglobulins / IGH locus"""	5591	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152069		14.37:g.106790997A>T														386		-									RNA	SNP	ENST00000390613.2	37	c.14621T>A																																																																																					PASS	0.557	IGHV3-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325163.1	NG_001019		66	152	66	152	---	---	---	---
IGHV3-30	28439	broad.mit.edu	37	14	106791065	106791065	+	RNA	SNP	C	C	A	rs368769331	byFrequency	TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr14:106791065C>A	ENST00000390613.2	-	0	370									immunoglobulin heavy variable 3-30																		GCAGATACAGCGTGTTCTTGG	0.483																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							248.0	308.0	288.0					14																	106791065		2084	4237	6321			8755							g.chr14:106791065C>A	M83134		14q32.33	2012-02-08			ENSG00000211953	ENSG00000270550		"""Immunoglobulins / IGH locus"""	5591	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152069		14.37:g.106791065C>A														386		-									RNA	SNP	ENST00000390613.2	37	c.14553G>T																																																																																					PASS	0.483	IGHV3-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325163.1	NG_001019		68	177	68	177	---	---	---	---
IGHV3-53	28420	broad.mit.edu	37	14	107048664	107048664	+	RNA	SNP	A	A	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr14:107048664A>T	ENST00000390627.2	-	0	569									immunoglobulin heavy variable 3-53																		ACTTCCCCTCACTGTGTCTCT	0.562																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							71.0	81.0	78.0					14																	107048664		1977	4187	6164			8755							g.chr14:107048664A>T	M99679		14q32.33	2012-02-08			ENSG00000211967	ENSG00000211967		"""Immunoglobulins / IGH locus"""	5610	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151966		14.37:g.107048664A>T														145		-									RNA	SNP	ENST00000390627.2	37	c.6925T>A																																																																																					PASS	0.562	IGHV3-53-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324612.1	NG_001019		5	71	5	71	---	---	---	---
IGHV3-53	28420	broad.mit.edu	37	14	107048732	107048732	+	RNA	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr14:107048732C>A	ENST00000390627.2	-	0	508									immunoglobulin heavy variable 3-53																		GAAGATACAGCGTGTTCTTGG	0.522																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.																																						8755							g.chr14:107048732C>A	M99679		14q32.33	2012-02-08			ENSG00000211967	ENSG00000211967		"""Immunoglobulins / IGH locus"""	5610	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151966		14.37:g.107048732C>A														144		-									RNA	SNP	ENST00000390627.2	37	c.6858G>T																																																																																					PASS	0.522	IGHV3-53-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324612.1	NG_001019		8	140	8	140	---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26793167	26793167	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr15:26793167C>A	ENST00000311550.5	-	9	1306	c.1195G>T	c.(1195-1197)Gga>Tga	p.G399*	GABRB3_ENST00000541819.2_Nonsense_Mutation_p.G455*|GABRB3_ENST00000400188.3_Nonsense_Mutation_p.G328*|GABRB3_ENST00000545868.1_Nonsense_Mutation_p.G314*|GABRB3_ENST00000299267.4_Nonsense_Mutation_p.G399*	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	399					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|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)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.G399*(2)|p.G455*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	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)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TACTGGATTCCTGAGTTGTCA	0.502																																						uc001zaz.2																			3	Substitution - Nonsense(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(1195-1197)GGA>TGA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						106.0	96.0	99.0					15																	26793167		2203	4300	6503	SO:0001587	stop_gained	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26793167C>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1195G>T	15.37:g.26793167C>A	ENSP00000308725:p.Gly399*					GABRB3_uc010uae.1_Nonsense_Mutation_p.G314*|GABRB3_uc001zba.2_Nonsense_Mutation_p.G399*|GABRB3_uc001zbb.2_Nonsense_Mutation_p.G455*	p.G399*	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	9	1337	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	399			Cytoplasmic (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Nonsense_Mutation	SNP	ENST00000311550.5	37	c.1195G>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	36	5.800701	0.96960	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	.	.	.	5.82	5.82	0.92795	.	0.200278	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.0872	0.93209	0.0:1.0:0.0:0.0	.	.	.	.	X	399;455;399;328;314	.	ENSP00000299267:G399X	G	-	1	0	GABRB3	24344260	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.976000	0.56867	2.752000	0.94435	0.655000	0.94253	GGA		PASS	0.502	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			7	90	7	90	---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26866572	26866572	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr15:26866572C>A	ENST00000311550.5	-	4	461	c.350G>T	c.(349-351)tGg>tTg	p.W117L	GABRB3_ENST00000541819.2_Missense_Mutation_p.W173L|GABRB3_ENST00000400188.3_Missense_Mutation_p.W46L|GABRB3_ENST00000545868.1_Missense_Mutation_p.W32L|GABRB3_ENST00000299267.4_Missense_Mutation_p.W117L	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	117					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|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)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.W117L(2)|p.W173L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	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)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTCGGGCACCCATAGCTGGTC	0.453																																						uc001zaz.2																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(349-351)TGG>TTG		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						105.0	101.0	102.0					15																	26866572		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26866572C>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.350G>T	15.37:g.26866572C>A	ENSP00000308725:p.Trp117Leu					GABRB3_uc010uae.1_Missense_Mutation_p.W32L|GABRB3_uc001zba.2_Missense_Mutation_p.W117L|GABRB3_uc001zbb.2_Missense_Mutation_p.W173L|GABRB3_uc001zbc.2_RNA	p.W117L	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	4	492	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	117			Extracellular (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.350G>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	33	5.220943	0.95139	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	D;D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06;-5.06	5.81	5.81	0.92471	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.99563	0.9843	H	0.98388	4.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.97914	1.0310	10	0.87932	D	0	.	19.0679	0.93119	0.0:1.0:0.0:0.0	.	173;117;117	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	L	117;173;117;46;32;32	ENSP00000308725:W117L;ENSP00000442408:W173L;ENSP00000299267:W117L;ENSP00000383049:W46L;ENSP00000439169:W32L;ENSP00000452272:W32L	ENSP00000299267:W117L	W	-	2	0	GABRB3	24417665	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.665000	0.83852	2.752000	0.94435	0.467000	0.42956	TGG		PASS	0.453	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			39	41	39	41	---	---	---	---
USP50	373509	broad.mit.edu	37	15	50833434	50833434	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr15:50833434C>T	ENST00000532404.1	-	4	645	c.472G>A	c.(472-474)Gag>Aag	p.E158K	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	163	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.E163K(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		GATCCTTTCTCATATGATCTT	0.408																																						uc001zyq.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(487-489)GAG>AAG		ubiquitin specific protease 50							99.0	94.0	96.0					15																	50833434		1901	4119	6020	SO:0001583	missense	373509				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr15:50833434C>T	AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"""Ubiquitin-specific peptidases"""	20079	protein-coding gene	gene with protein product			"""ubiquitin specific protease 50"""			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.472G>A	15.37:g.50833434C>T	ENSP00000434676:p.Glu158Lys						p.E163K	NM_203494	NP_987090	E9PP86	E9PP86_HUMAN		all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)	4	667	-			158					E9PP86	Missense_Mutation	SNP	ENST00000532404.1	37	c.487G>A	CCDS53944.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038877	0.55003	.	.	ENSG00000170236	ENST00000532404	T	0.28895	1.59	5.44	5.44	0.79542	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	3.620240	0.00881	N	0.002120	T	0.34454	0.0898	L	0.41961	1.31	0.29016	N	0.886561	P	0.37781	0.608	B	0.40285	0.325	T	0.19910	-1.0291	10	0.20519	T	0.43	-11.7196	10.297	0.43629	0.0:0.9104:0.0:0.0895	.	163	Q70EL3	UBP50_HUMAN	K	158	ENSP00000434676:E158K	ENSP00000434676:E158K	E	-	1	0	USP50	48620726	0.093000	0.21703	0.065000	0.19835	0.008000	0.06430	2.769000	0.47654	2.530000	0.85305	0.555000	0.69702	GAG		PASS	0.408	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1			33	18	33	18	---	---	---	---
FAM81A	145773	broad.mit.edu	37	15	59752218	59752218	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr15:59752218G>A	ENST00000288228.5	+	3	294	c.107G>A	c.(106-108)aGg>aAg	p.R36K		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	36								p.R33K(1)		endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						CTGGAAGACAGGATCCTCTGC	0.532																																						uc002agc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(106-108)AGG>AAG		hypothetical protein LOC145773							41.0	45.0	44.0					15																	59752218		1974	4173	6147	SO:0001583	missense	145773							g.chr15:59752218G>A		CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.107G>A	15.37:g.59752218G>A	ENSP00000288228:p.Arg36Lys					FAM81A_uc010uha.1_Missense_Mutation_p.R36K	p.R36K	NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN			3	294	+			36						Missense_Mutation	SNP	ENST00000288228.5	37	c.107G>A	CCDS45269.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818398	0.71028	.	.	ENSG00000157470	ENST00000288228	T	0.28454	1.61	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	T	0.55909	0.1950	M	0.70595	2.14	0.36006	D	0.837754	D;D	0.67145	0.996;0.974	D;D	0.75484	0.986;0.969	T	0.64984	-0.6278	10	0.62326	D	0.03	-27.4278	16.6985	0.85342	0.0:0.0:1.0:0.0	.	33;36	B4DRE4;Q8TBF8	.;FA81A_HUMAN	K	36	ENSP00000288228:R36K	ENSP00000288228:R36K	R	+	2	0	FAM81A	57539510	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.780000	0.75063	2.619000	0.88677	0.561000	0.74099	AGG		PASS	0.532	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415876.1	NM_152450		5	23	5	23	---	---	---	---
CEMIP	57214	broad.mit.edu	37	15	81181912	81181912	+	Silent	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr15:81181912C>T	ENST00000394685.3	+	10	1484	c.1065C>T	c.(1063-1065)tgC>tgT	p.C355C	KIAA1199_ENST00000220244.3_Silent_p.C355C|KIAA1199_ENST00000356249.5_Silent_p.C355C			Q8WUJ3	CEMIP_HUMAN		355	Necessary for its endoplasmic reticulum (ER) retention and interaction with HSPA5.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.C355C(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAAAAATATGCAATCGTCCCA	0.398																																						uc002bfw.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1063-1065)TGC>TGT		KIAA1199 precursor							103.0	100.0	101.0					15																	81181912		2203	4300	6503	SO:0001819	synonymous_variant	57214							g.chr15:81181912C>T																												ENST00000394685.3:c.1065C>T	15.37:g.81181912C>T						KIAA1199_uc010unn.1_Silent_p.C355C	p.C355C	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN			9	1325	+			355					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	c.1065C>T	CCDS10315.1																																																																																				PASS	0.398	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			30	23	30	23	---	---	---	---
TICRR	90381	broad.mit.edu	37	15	90144552	90144552	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr15:90144552G>T	ENST00000268138.7	+	10	2282	c.2177G>T	c.(2176-2178)cGt>cTt	p.R726L	TICRR_ENST00000560985.1_Missense_Mutation_p.R725L			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	726					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R726L(1)									GTATTTCTTCGTTTGGAGATG	0.383																																						uc002boe.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(2176-2178)CGT>CTT		leucine-rich repeat kinase 1							109.0	104.0	106.0					15																	90144552		1871	4113	5984	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90144552G>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.2177G>T	15.37:g.90144552G>T	ENSP00000268138:p.Arg726Leu						p.R726L	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		10	2177	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		726					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.2177G>T	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399308	0.83120	.	.	ENSG00000140534	ENST00000268138	T	0.20598	2.06	5.54	2.67	0.31697	.	0.050491	0.85682	D	0.000000	T	0.39384	0.1076	M	0.72894	2.215	0.46564	D	0.999104	D	0.69078	0.997	D	0.63703	0.917	T	0.15065	-1.0450	10	0.72032	D	0.01	-6.0791	9.8567	0.41090	0.2132:0.0:0.7868:0.0	.	726	Q7Z2Z1	TICRR_HUMAN	L	726	ENSP00000268138:R726L	ENSP00000268138:R726L	R	+	2	0	C15orf42	87945556	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.181000	0.58303	0.410000	0.25675	0.591000	0.81541	CGT		PASS	0.383	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		15	58	15	58	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2168068	2168068	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr16:2168068C>T	ENST00000262304.4	-	5	1133	c.925G>A	c.(925-927)Gac>Aac	p.D309N	PKD1_ENST00000423118.1_Missense_Mutation_p.D309N|RP11-304L19.2_ENST00000562027.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	309	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.D309N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCGGAGCCGTCTCCGAAGTCC	0.716																																						uc002cos.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(925-927)GAC>AAC		polycystin 1 isoform 1 precursor							5.0	7.0	7.0					16																	2168068		2007	4069	6076	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2168068C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.925G>A	16.37:g.2168068C>T	ENSP00000262304:p.Asp309Asn					PKD1_uc002cot.1_Missense_Mutation_p.D309N	p.D309N	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			5	1134	-			309			Extracellular (Potential).|PKD 1.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.925G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	17.10	3.304121	0.60305	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	D;D	0.86865	-2.18;-2.18	4.63	4.63	0.57726	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (4);	0.000000	0.85682	D	0.000000	D	0.93923	0.8055	M	0.86864	2.845	0.51233	D	0.99991	D;D	0.89917	1.0;0.996	D;P	0.71870	0.975;0.892	D	0.94962	0.8109	10	0.66056	D	0.02	.	16.5595	0.84535	0.0:1.0:0.0:0.0	.	309;309	P98161-3;P98161	.;PKD1_HUMAN	N	309;309;242	ENSP00000262304:D309N;ENSP00000399501:D309N	ENSP00000262304:D309N	D	-	1	0	PKD1	2108069	0.978000	0.34361	0.053000	0.19242	0.030000	0.12068	2.822000	0.48073	2.156000	0.67533	0.444000	0.29173	GAC		PASS	0.716	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			11	13	11	13	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3658448	3658448	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr16:3658448G>C	ENST00000294008.3	-	2	1158	c.518C>G	c.(517-519)tCc>tGc	p.S173C		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	173	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.S173C(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTTCTCTCTGGAAAGGTTTGG	0.502								Direct reversal of damage																														uc002cvp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(517-519)TCC>TGC	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							90.0	94.0	93.0					16																	3658448		2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3658448G>C	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.518C>G	16.37:g.3658448G>C	ENSP00000294008:p.Ser173Cys					BTBD12_uc002cvq.1_Missense_Mutation_p.S173C	p.S173C	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			2	1145	-			173			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.518C>G	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	10.15	1.272037	0.23221	.	.	ENSG00000188827	ENST00000294008	T	0.01258	5.09	4.58	-1.15	0.09709	.	2.574370	0.01469	N	0.016186	T	0.01765	0.0056	L	0.40543	1.245	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.47935	-0.9078	10	0.59425	D	0.04	.	3.974	0.09465	0.3386:0.3407:0.3207:0.0	.	173	Q8IY92	SLX4_HUMAN	C	173	ENSP00000294008:S173C	ENSP00000294008:S173C	S	-	2	0	SLX4	3598449	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.017000	0.13399	-0.057000	0.13199	0.650000	0.86243	TCC		PASS	0.502	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		25	23	25	23	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21061293	21061293	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr16:21061293C>T	ENST00000261383.3	-	30	4284	c.4285G>A	c.(4285-4287)Ggt>Agt	p.G1429S	DNAH3_ENST00000415178.1_Missense_Mutation_p.G1429S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1429	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.G1429S(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCAGCTGGACCCTCTGGAGCA	0.507																																						uc010vbe.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(4285-4287)GGT>AGT		dynein, axonemal, heavy chain 3							177.0	161.0	167.0					16																	21061293		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21061293C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4285G>A	16.37:g.21061293C>T	ENSP00000261383:p.Gly1429Ser						p.G1429S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	30	4285	-			1429			ATP (Potential).|AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4285G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	36	5.752601	0.96890	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	D;D	0.93547	-3.24;-3.24	5.92	5.92	0.95590	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98670	0.9554	H	0.99783	4.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99056	1.0829	10	0.87932	D	0	.	20.3248	0.98698	0.0:1.0:0.0:0.0	.	1429	Q8TD57	DYH3_HUMAN	S	1429	ENSP00000261383:G1429S;ENSP00000394245:G1429S	ENSP00000261383:G1429S	G	-	1	0	DNAH3	20968794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.704000	0.84595	2.818000	0.97014	0.655000	0.94253	GGT		PASS	0.507	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		33	24	33	24	---	---	---	---
COG7	91949	broad.mit.edu	37	16	23417525	23417525	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr16:23417525C>A	ENST00000307149.5	-	12	1719	c.1534G>T	c.(1534-1536)Ggt>Tgt	p.G512C		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	512					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.G512C(1)		breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TCCTGAAAACCAGCCAGGCTC	0.463																																						uc002dlo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1534-1536)GGT>TGT		component of oligomeric golgi complex 7							81.0	87.0	85.0					16																	23417525		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23417525C>A	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1534G>T	16.37:g.23417525C>A	ENSP00000305442:p.Gly512Cys						p.G512C	NM_153603	NP_705831	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	12	1722	-			512					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.1534G>T	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105022	0.77096	.	.	ENSG00000168434	ENST00000307149	T	0.49432	0.78	5.66	5.66	0.87406	.	0.090091	0.85682	D	0.000000	T	0.56108	0.1963	N	0.22421	0.69	0.80722	D	1	D	0.63880	0.993	D	0.66196	0.942	T	0.57934	-0.7725	10	0.54805	T	0.06	-15.2636	18.8096	0.92053	0.0:1.0:0.0:0.0	.	512	P83436	COG7_HUMAN	C	512	ENSP00000305442:G512C	ENSP00000305442:G512C	G	-	1	0	COG7	23325026	0.997000	0.39634	0.377000	0.26055	0.975000	0.68041	4.108000	0.57817	2.679000	0.91253	0.650000	0.86243	GGT		PASS	0.463	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			9	80	9	80	---	---	---	---
ABCC11	85320	broad.mit.edu	37	16	48239387	48239387	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr16:48239387G>A	ENST00000394747.1	-	12	2091	c.1742C>T	c.(1741-1743)gCc>gTc	p.A581V	ABCC11_ENST00000394748.1_Missense_Mutation_p.A581V|ABCC11_ENST00000356608.2_Missense_Mutation_p.A581V|ABCC11_ENST00000353782.5_Missense_Mutation_p.A581V|ABCC11_ENST00000537808.1_Missense_Mutation_p.A581V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	581	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.A581V(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GACGATCCAGGCCTGCTGGGG	0.622																																						uc002eff.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1741-1743)GCC>GTC		ATP-binding cassette, sub-family C, member 11							130.0	114.0	119.0					16																	48239387		2201	4300	6501	SO:0001583	missense	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48239387G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1742C>T	16.37:g.48239387G>A	ENSP00000378230:p.Ala581Val					ABCC11_uc002efg.1_Missense_Mutation_p.A581V|ABCC11_uc002efh.1_Missense_Mutation_p.A581V|ABCC11_uc010vgk.1_RNA	p.A581V	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			12	2092	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	581			ABC transporter 1.|Cytoplasmic (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.1742C>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	35	5.538169	0.96460	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32	5.49	5.49	0.81192	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.060056	0.64402	D	0.000003	D	0.93815	0.8022	N	0.20986	0.625	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	P;D	0.70487	0.851;0.969	D	0.94630	0.7821	10	0.62326	D	0.03	-11.9068	16.867	0.86032	0.0:0.0:1.0:0.0	.	581;581	Q96J66-2;Q96J66	.;ABCCB_HUMAN	V	581	ENSP00000311326:A581V;ENSP00000349017:A581V;ENSP00000378231:A581V;ENSP00000378230:A581V;ENSP00000438530:A581V	ENSP00000311326:A581V	A	-	2	0	ABCC11	46796888	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.430000	0.80321	2.572000	0.86782	0.563000	0.77884	GCC		PASS	0.622	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		75	64	75	64	---	---	---	---
CCDC102A	92922	broad.mit.edu	37	16	57546761	57546761	+	Silent	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr16:57546761G>A	ENST00000258214.2	-	9	1791	c.1545C>T	c.(1543-1545)aaC>aaT	p.N515N		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	515								p.N515N(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						AGAGGGGAGCGTTCTGCTGCT	0.642																																						uc002elw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1543-1545)AAC>AAT		coiled-coil domain containing 102A							58.0	53.0	55.0					16																	57546761		2198	4300	6498	SO:0001819	synonymous_variant	92922							g.chr16:57546761G>A	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1545C>T	16.37:g.57546761G>A							p.N515N	NM_033212	NP_149989	Q96A19	C102A_HUMAN			9	1758	-			515			Potential.		Q9BT74	Silent	SNP	ENST00000258214.2	37	c.1545C>T	CCDS10784.1																																																																																				PASS	0.642	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		37	44	37	44	---	---	---	---
IRF8	3394	broad.mit.edu	37	16	85952247	85952247	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr16:85952247C>A	ENST00000268638.5	+	7	1248	c.826C>A	c.(826-828)Cgc>Agc	p.R276S	IRF8_ENST00000562492.1_Missense_Mutation_p.R72S	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	276					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.R276S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCACCTGGAGCGCGGGGTGCT	0.716																																						uc002fjh.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(826-828)CGC>AGC		interferon regulatory factor 8							14.0	18.0	17.0					16																	85952247		2195	4290	6485	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85952247C>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.826C>A	16.37:g.85952247C>A	ENSP00000268638:p.Arg276Ser					IRF8_uc010chp.2_Intron	p.R276S	NM_002163	NP_002154	Q02556	IRF8_HUMAN			7	883	+		Prostate(104;0.0771)	276					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.826C>A	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216660	0.79352	.	.	ENSG00000140968	ENST00000268638	D	0.95447	-3.71	5.1	4.08	0.47627	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.046051	0.85682	D	0.000000	D	0.97145	0.9067	M	0.80422	2.495	0.58432	D	0.999994	D	0.55800	0.973	D	0.66196	0.942	D	0.96753	0.9555	10	0.52906	T	0.07	-29.0066	13.1479	0.59472	0.2747:0.7253:0.0:0.0	.	276	Q02556	IRF8_HUMAN	S	276	ENSP00000268638:R276S	ENSP00000268638:R276S	R	+	1	0	IRF8	84509748	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	2.231000	0.43009	2.534000	0.85438	0.650000	0.86243	CGC		PASS	0.716	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		9	9	9	9	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578556	7578556	+	Splice_Site	SNP	T	T	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr17:7578556T>C	ENST00000269305.4	-	5	565		c.e5-2		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	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						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.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	AGGGGAGTACTGTAGGAAGAG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		46	Unknown(34)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(14)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(19)|breast(7)|central_nervous_system(4)|ovary(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|oesophagus(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(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.e5-1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							41.0	42.0	41.0					17																	7578556		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.chr17:7578556T>C	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.376-2A>G	17.37:g.7578556T>C		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_Splice_Site_p.Y126_splice|TP53_uc002gih.2_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.1_Splice_Site_p.Y87_splice	p.Y126_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	570	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37	c.376_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336894	0.60963	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6026	0.45375	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519281	1.000000	0.71417	0.994000	0.49952	0.902000	0.53008	6.214000	0.72200	2.078000	0.62432	0.533000	0.62120	.		PASS	0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	19	6	19	6	---	---	---	---
ITGA2B	3674	broad.mit.edu	37	17	42466708	42466708	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr17:42466708G>T	ENST00000262407.5	-	1	165	c.134C>A	c.(133-135)cCc>cAc	p.P45H	ITGA2B_ENST00000353281.4_Missense_Mutation_p.P45H	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	45					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.P45H(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	GCTGCCATTGGGGCCTGCATA	0.592																																						uc002igt.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(133-135)CCC>CAC		integrin alpha 2b preproprotein	Tirofiban(DB00775)						96.0	98.0	97.0					17																	42466708		2203	4300	6503	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42466708G>T		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.134C>A	17.37:g.42466708G>T	ENSP00000262407:p.Pro45His						p.P45H	NM_000419	NP_000410	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	1	166	-		Prostate(33;0.0181)	45			Extracellular (Potential).|FG-GAP 1.		B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.134C>A	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278975	0.80692	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	D;D	0.90385	-2.66;-2.66	5.66	4.68	0.58851	.	0.000000	0.34932	N	0.003571	D	0.94801	0.8321	M	0.87971	2.92	0.80722	D	1	D	0.76494	0.999	P	0.61132	0.884	D	0.95233	0.8344	10	0.87932	D	0	.	12.6927	0.56985	0.0811:0.0:0.9189:0.0	.	45	P08514	ITA2B_HUMAN	H	45	ENSP00000262407:P45H;ENSP00000340536:P45H	ENSP00000262407:P45H	P	-	2	0	ITGA2B	39822234	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.824000	0.62701	1.378000	0.46305	0.561000	0.74099	CCC		PASS	0.592	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			50	30	50	30	---	---	---	---
TBX2	6909	broad.mit.edu	37	17	59482917	59482917	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr17:59482917C>T	ENST00000240328.3	+	6	1687	c.1406C>T	c.(1405-1407)gCc>gTc	p.A469V	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	469	Gly-rich.				aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A459V(1)		endometrium(1)|lung(7)|ovary(1)	9						CCCGGCCTGGCCTTTTCCAGC	0.716																																					GBM(3;187 253 11467 14965 23079)	uc010wox.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1405-1407)GCC>GTC		T-box 2							7.0	9.0	8.0					17																	59482917		2145	4221	6366	SO:0001583	missense	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59482917C>T	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1406C>T	17.37:g.59482917C>T	ENSP00000240328:p.Ala469Val					TBX2_uc002ize.2_3'UTR|TBX2_uc002izg.2_Missense_Mutation_p.A315V	p.A469V	NM_005994	NP_005985	Q13207	TBX2_HUMAN			6	1687	+			469			Gly-rich.		Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	37	c.1406C>T	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981506	0.74474	.	.	ENSG00000121068	ENST00000240328	D	0.87966	-2.32	5.07	4.11	0.48088	.	0.757856	0.12904	N	0.429500	D	0.87051	0.6081	M	0.66939	2.045	0.54753	D	0.999984	P	0.46064	0.872	B	0.43575	0.424	D	0.85716	0.1322	10	0.62326	D	0.03	.	12.2799	0.54757	0.0:0.9164:0.0:0.0836	.	469	Q13207	TBX2_HUMAN	V	469	ENSP00000240328:A469V	ENSP00000240328:A469V	A	+	2	0	TBX2	56837699	0.734000	0.28142	0.998000	0.56505	0.987000	0.75469	1.491000	0.35583	1.137000	0.42214	0.561000	0.74099	GCC		PASS	0.716	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		4	3	4	3	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65907828	65907828	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr17:65907828A>T	ENST00000321892.4	+	13	4267	c.4206A>T	c.(4204-4206)gaA>gaT	p.E1402D	BPTF_ENST00000424123.3_Missense_Mutation_p.E1263D|BPTF_ENST00000306378.6_Missense_Mutation_p.E1276D|BPTF_ENST00000335221.5_Missense_Mutation_p.E1402D			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1402					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E1402D(1)|p.E1276D(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGGACTTTGAAGGAAAACTGG	0.398																																						uc002jgf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(3826-3828)GAA>GAT		bromodomain PHD finger transcription factor							125.0	119.0	121.0					17																	65907828		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65907828A>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4206A>T	17.37:g.65907828A>T	ENSP00000315454:p.Glu1402Asp					BPTF_uc002jge.2_Missense_Mutation_p.E1402D	p.E1276D	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		11	3889	+	all_cancers(12;6e-11)		1402					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.3828A>T		.	.	.	.	.	.	.	.	.	.	A	5.444	0.267090	0.10294	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.62232	0.05;0.04;0.04	5.68	2.09	0.27110	.	.	.	.	.	T	0.35913	0.0948	N	0.08118	0	0.27470	N	0.952895	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.22243	-1.0222	9	0.16420	T	0.52	-10.2805	6.9102	0.24331	0.4479:0.1176:0.0:0.4344	.	1276;1402	Q12830-2;Q12830-4	.;.	D	1276;1402;1402	ENSP00000307208:E1276D;ENSP00000334351:E1402D;ENSP00000315454:E1402D	ENSP00000307208:E1276D	E	+	3	2	BPTF	63338290	0.994000	0.37717	0.994000	0.49952	0.536000	0.34869	1.147000	0.31602	0.411000	0.25702	0.528000	0.53228	GAA		PASS	0.398	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		52	24	52	24	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78341763	78341763	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr17:78341763T>G	ENST00000582970.1	+	44	12118	c.11975T>G	c.(11974-11976)tTt>tGt	p.F3992C	RNF213_ENST00000336301.6_Missense_Mutation_p.F2065C|RNF213_ENST00000508628.2_Missense_Mutation_p.F4041C|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3992					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F4041C(1)|p.F2065C(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATTCTAGGTTTGGGATTCAG	0.547																																						uc002jyh.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(6193-6195)TTT>TGT		ring finger protein 213							123.0	123.0	123.0					17																	78341763		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78341763T>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11975T>G	17.37:g.78341763T>G	ENSP00000464087:p.Phe3992Cys					uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.F447C	p.F2065C	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		19	6417	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.6194T>G	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.686976	0.48097	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.25414	1.8	4.54	2.13	0.27403	.	0.572567	0.19264	N	0.118583	T	0.43634	0.1256	M	0.85373	2.75	0.26577	N	0.973449	D;D	0.67145	0.996;0.995	P;P	0.61592	0.891;0.701	T	0.23833	-1.0177	10	0.42905	T	0.14	.	4.3498	0.11150	0.3078:0.0:0.1465:0.5457	.	4041;2065	C9JCP4;Q63HN8	.;RN213_HUMAN	C	3992;4041;2065	ENSP00000338218:F2065C	ENSP00000338218:F2065C	F	+	2	0	RNF213	75956358	1.000000	0.71417	0.213000	0.23690	0.055000	0.15305	1.429000	0.34903	0.757000	0.33036	-0.461000	0.05368	TTT		PASS	0.547	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		58	34	58	34	---	---	---	---
DSC3	1825	broad.mit.edu	37	18	28586895	28586895	+	Silent	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr18:28586895C>A	ENST00000360428.4	-	12	1946	c.1866G>T	c.(1864-1866)ctG>ctT	p.L622L	DSC3_ENST00000434452.1_Silent_p.L622L	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	622	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.L622L(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGAGGCTCCACAGTCTACTGA	0.358																																						uc002kwj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)	4						c.(1864-1866)CTG>CTT		desmocollin 3 isoform Dsc3a preproprotein							57.0	58.0	58.0					18																	28586895		2203	4300	6503	SO:0001819	synonymous_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28586895C>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1866G>T	18.37:g.28586895C>A						DSC3_uc002kwi.3_Silent_p.L622L	p.L622L	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		12	2021	-			622			Extracellular (Potential).|Cadherin 5.		A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	c.1866G>T	CCDS32810.1																																																																																				PASS	0.358	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		11	19	11	19	---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59221671	59221671	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr18:59221671G>C	ENST00000262717.4	+	12	2547	c.2149G>C	c.(2149-2151)Gca>Cca	p.A717P	CDH20_ENST00000538374.1_Missense_Mutation_p.A717P|CDH20_ENST00000536675.2_Missense_Mutation_p.A717P			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	717					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A717P(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TCAGACGTGCGCAGTGAACAG	0.662																																						uc010dps.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(2149-2151)GCA>CCA		cadherin 20, type 2 preproprotein							42.0	36.0	38.0					18																	59221671		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59221671G>C	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.2149G>C	18.37:g.59221671G>C	ENSP00000262717:p.Ala717Pro					CDH20_uc002lif.2_Missense_Mutation_p.A711P	p.A717P	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			11	2161	+		Colorectal(73;0.186)	717			Cytoplasmic (Potential).		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.2149G>C	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	1.422	-0.572602	0.03882	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.77098	-1.07;-1.07;-1.07	5.78	2.93	0.34026	Cadherin, cytoplasmic domain (1);	0.492179	0.23222	N	0.050542	T	0.40015	0.1100	N	0.01417	-0.88	0.32001	N	0.603341	B	0.02656	0.0	B	0.08055	0.003	T	0.45131	-0.9282	10	0.02654	T	1	.	3.6754	0.08290	0.1674:0.1402:0.5499:0.1424	.	717	Q9HBT6	CAD20_HUMAN	P	717	ENSP00000444767:A717P;ENSP00000442226:A717P;ENSP00000262717:A717P	ENSP00000262717:A717P	A	+	1	0	CDH20	57372651	0.963000	0.33076	1.000000	0.80357	0.939000	0.58152	0.835000	0.27531	0.864000	0.35578	0.655000	0.94253	GCA		PASS	0.662	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		8	22	8	22	---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65179576	65179576	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr18:65179576T>G	ENST00000310045.7	-	2	3773	c.2300A>C	c.(2299-2301)aAg>aCg	p.K767T	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	757					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.K767T(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TCTTACAGGCTTTACTATTGC	0.378																																						uc002lke.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(2299-2301)AAG>ACG		dermatan sulfate epimerase-like							52.0	55.0	54.0					18																	65179576		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179576T>G	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2300A>C	18.37:g.65179576T>G	ENSP00000310565:p.Lys767Thr						p.K767T	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	3524	-		Esophageal squamous(42;0.129)	757					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.2300A>C	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	T	8.438	0.850221	0.17034	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.20069	2.1	4.98	1.01	0.19927	.	0.467569	0.21541	U	0.072900	T	0.17365	0.0417	L	0.57536	1.79	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.15009	-1.0452	10	0.36615	T	0.2	.	5.4338	0.16469	0.2692:0.0761:0.0:0.6547	.	757	Q8IZU8	DSEL_HUMAN	T	767;757	ENSP00000310565:K767T	ENSP00000310565:K767T	K	-	2	0	DSEL	63330556	0.998000	0.40836	0.316000	0.25252	0.944000	0.59088	1.998000	0.40796	0.722000	0.32252	0.374000	0.22700	AAG		PASS	0.378	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		15	52	15	52	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74637290	74637290	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr18:74637290G>C	ENST00000253159.8	+	22	3999	c.3801G>C	c.(3799-3801)aaG>aaC	p.K1267N	ZNF236_ENST00000320610.9_Missense_Mutation_p.K1269N	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1267					cellular response to glucose stimulus (GO:0071333)|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.K1267N(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTAGAAGAAAGACACACATGC	0.527																																						uc002lmi.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(3799-3801)AAG>AAC		zinc finger protein 236							56.0	59.0	58.0					18																	74637290		2009	4173	6182	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74637290G>C	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3801G>C	18.37:g.74637290G>C	ENSP00000253159:p.Lys1267Asn					ZNF236_uc002lmj.2_RNA	p.K1267N	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	22	3999	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1267			C2H2-type 25.		B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.3801G>C	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316420	0.40996	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.61392	0.11;0.11	4.95	2.15	0.27550	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.055193	0.64402	D	0.000001	T	0.61009	0.2313	L	0.34521	1.04	0.45342	D	0.998337	D	0.76494	0.999	D	0.80764	0.994	T	0.58470	-0.7631	10	0.49607	T	0.09	.	8.7195	0.34432	0.3952:0.0:0.6048:0.0	.	1267	Q9UL36	ZN236_HUMAN	N	1267	ENSP00000253159:K1267N;ENSP00000444524:K1267N	ENSP00000253159:K1267N	K	+	3	2	ZNF236	72766278	1.000000	0.71417	0.987000	0.45799	0.296000	0.27459	2.125000	0.42016	0.613000	0.30089	0.650000	0.86243	AAG		PASS	0.527	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			20	40	20	40	---	---	---	---
PALM	5064	broad.mit.edu	37	19	746310	746310	+	Silent	SNP	C	C	T	rs150589646	byFrequency	TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:746310C>T	ENST00000338448.5	+	9	706	c.660C>T	c.(658-660)gcC>gcT	p.A220A	PALM_ENST00000264560.7_Silent_p.A176A|PALM_ENST00000593172.1_3'UTR	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	220					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A220A(1)		endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|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)|Lung(535;0.201)		ACGGCACCGCCGAGAACGGGA	0.647																																						uc002lpm.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(658-660)GCC>GCT		paralemmin isoform 1							56.0	58.0	57.0					19																	746310		2203	4300	6503	SO:0001819	synonymous_variant	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:746310C>T	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.660C>T	19.37:g.746310C>T						PALM_uc002lpn.1_Silent_p.A176A|PALM_uc010xfu.1_Silent_p.A85A	p.A220A	NM_002579	NP_002570	O75781	PALM_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)|Lung(535;0.201)	9	854	+		all_epithelial(18;2.19e-21)|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)	220					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Silent	SNP	ENST00000338448.5	37	c.660C>T	CCDS32857.1																																																																																				PASS	0.647	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		6	36	6	36	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9060155	9060155	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:9060155G>T	ENST00000397910.4	-	3	27494	c.27291C>A	c.(27289-27291)gaC>gaA	p.D9097E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9099	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.D4730E(1)|p.D9097E(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						TTGTTGAAGTGTCCAAGGTAA	0.483																																						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.(27289-27291)GAC>GAA		mucin 16							159.0	147.0	151.0					19																	9060155		1915	4132	6047	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9060155G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27291C>A	19.37:g.9060155G>T	ENSP00000381008:p.Asp9097Glu						p.D9097E	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	27495	-			9099			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.27291C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.782	0.328656	0.10956	.	.	ENSG00000181143	ENST00000397910	T	0.21932	1.98	2.5	-1.45	0.08828	.	.	.	.	.	T	0.11239	0.0274	N	0.19112	0.55	.	.	.	P	0.41450	0.75	B	0.39562	0.303	T	0.19679	-1.0298	8	0.87932	D	0	.	3.414	0.07369	0.279:0.2143:0.5067:0.0	.	9097	B5ME49	.	E	9097	ENSP00000381008:D9097E	ENSP00000381008:D9097E	D	-	3	2	MUC16	8921155	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.777000	0.04669	-0.176000	0.10707	0.461000	0.40582	GAC		PASS	0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		27	40	27	40	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9076678	9076678	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:9076678C>A	ENST00000397910.4	-	3	10971	c.10768G>T	c.(10768-10770)Gat>Tat	p.D3590Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3591	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.D3590Y(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCCAGGAATCTGATGCAGCT	0.493																																						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.(10768-10770)GAT>TAT		mucin 16							146.0	147.0	147.0					19																	9076678		2074	4206	6280	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076678C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10768G>T	19.37:g.9076678C>A	ENSP00000381008:p.Asp3590Tyr						p.D3590Y	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	10972	-			3591			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.10768G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	7.677	0.688236	0.14973	.	.	ENSG00000181143	ENST00000397910	T	0.03124	4.04	1.57	1.57	0.23409	.	.	.	.	.	T	0.02455	0.0075	N	0.08118	0	.	.	.	D	0.58268	0.982	P	0.44518	0.452	T	0.41787	-0.9489	8	0.87932	D	0	.	6.6009	0.22701	0.0:1.0:0.0:0.0	.	3590	B5ME49	.	Y	3590	ENSP00000381008:D3590Y	ENSP00000381008:D3590Y	D	-	1	0	MUC16	8937678	0.015000	0.18098	0.001000	0.08648	0.716000	0.41182	0.789000	0.26886	1.163000	0.42636	0.313000	0.20887	GAT		PASS	0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	55	17	55	---	---	---	---
S1PR2	9294	broad.mit.edu	37	19	10335434	10335434	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:10335434C>T	ENST00000590320.1	-	2	258	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	50					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.E50K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGAAGGTTTTCCACCACAATG	0.567																																					Pancreas(194;229 3020 15179 45747)	uc002mnl.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(148-150)GAA>AAA		endothelial differentiation, sphingolipid							124.0	116.0	119.0					19																	10335434		2203	4300	6503	SO:0001583	missense	9294				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10335434C>T	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3169	protein-coding gene	gene with protein product		605111	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"""	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.148G>A	19.37:g.10335434C>T	ENSP00000466933:p.Glu50Lys						p.E50K	NM_004230	NP_004221	O95136	S1PR2_HUMAN			2	259	-			50			Helical; Name=1; (By similarity).		Q86UN8	Missense_Mutation	SNP	ENST00000590320.1	37	c.148G>A	CCDS12229.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352784	0.82132	.	.	ENSG00000175898	ENST00000317726	.	.	.	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86543	0.5958	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90277	0.4312	9	0.87932	D	0	.	17.266	0.87087	0.0:1.0:0.0:0.0	.	50	O95136	S1PR2_HUMAN	K	50	.	ENSP00000322049:E50K	E	-	1	0	S1PR2	10196434	1.000000	0.71417	0.995000	0.50966	0.339000	0.28857	6.048000	0.71046	2.367000	0.80283	0.586000	0.80456	GAA		PASS	0.567	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		38	89	38	89	---	---	---	---
TYK2	7297	broad.mit.edu	37	19	10478977	10478977	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:10478977C>A	ENST00000525621.1	-	4	792	c.311G>T	c.(310-312)cGc>cTc	p.R104L	TYK2_ENST00000529370.1_Missense_Mutation_p.R104L|TYK2_ENST00000264818.6_Missense_Mutation_p.R104L|TYK2_ENST00000524462.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	104	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.R104L(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCACCTTATGCGGAAATATAG	0.552																																						uc002moc.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.(310-312)CGC>CTC		tyrosine kinase 2							158.0	141.0	147.0					19																	10478977		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10478977C>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.311G>T	19.37:g.10478977C>A	ENSP00000431885:p.Arg104Leu					TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Missense_Mutation_p.R104L	p.R104L	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		4	689	-			104			FERM.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.311G>T	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675834	0.88445	.	.	ENSG00000105397	ENST00000525621;ENST00000264818;ENST00000529370;ENST00000531836	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.01	5.01	0.66863	Band 4.1 domain (1);FERM domain (1);	0.000000	0.49916	D	0.000133	D	0.88104	0.6347	M	0.83774	2.66	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.78314	0.971;0.991	D	0.89755	0.3943	10	0.87932	D	0	-41.1729	13.8262	0.63352	0.0:1.0:0.0:0.0	.	104;104	E9PPF2;P29597	.;TYK2_HUMAN	L	104	ENSP00000431885:R104L;ENSP00000264818:R104L;ENSP00000432728:R104L;ENSP00000436175:R104L	ENSP00000264818:R104L	R	-	2	0	TYK2	10339977	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	6.387000	0.73191	2.325000	0.78763	0.544000	0.68410	CGC		PASS	0.552	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			34	68	34	68	---	---	---	---
GIPC1	10755	broad.mit.edu	37	19	14589276	14589276	+	Silent	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:14589276G>A	ENST00000393033.4	-	9	1223	c.954C>T	c.(952-954)gtC>gtT	p.V318V	GIPC1_ENST00000586027.1_Silent_p.V318V|GIPC1_ENST00000591349.1_Silent_p.V221V|GIPC1_ENST00000393028.1_Silent_p.V221V|GIPC1_ENST00000393029.3_Silent_p.V221V|GIPC1_ENST00000345425.2_Silent_p.V318V	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	318					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.V318V(1)		endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						AGACGTCAAAGACGAACTCGT	0.657																																					Pancreas(33;78 923 2910 41023 52850)	uc002myt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(952-954)GTC>GTT		regulator of G-protein signalling 19 interacting							31.0	30.0	30.0					19																	14589276		2203	4300	6503	SO:0001819	synonymous_variant	10755				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	g.chr19:14589276G>A	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.954C>T	19.37:g.14589276G>A						GIPC1_uc002myu.2_Silent_p.V318V|GIPC1_uc002myv.2_Silent_p.V221V|GIPC1_uc002myw.2_Silent_p.V221V|GIPC1_uc002myx.2_Silent_p.V318V|GIPC1_uc002myy.2_Silent_p.V221V	p.V318V	NM_005716	NP_005707	O14908	GIPC1_HUMAN			9	1224	-			318					A8K4I3|A8MZG3|Q9BTC9	Silent	SNP	ENST00000393033.4	37	c.954C>T	CCDS12310.1																																																																																				PASS	0.657	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			5	6	5	6	---	---	---	---
CYP4F11	57834	broad.mit.edu	37	19	16024572	16024572	+	Silent	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:16024572C>A	ENST00000402119.4	-	12	1971	c.1545G>T	c.(1543-1545)cgG>cgT	p.R515R	CYP4F11_ENST00000248041.8_Silent_p.R515R|CYP4F11_ENST00000326742.8_3'UTR|CYP4F11_ENST00000591841.1_Silent_p.R190R	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11									p.R515R(1)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGGGCTCCACCCGCAGCCAAA	0.607																																						uc002nbu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1543-1545)CGG>CGT		cytochrome P450 family 4 subfamily F polypeptide							58.0	53.0	55.0					19																	16024572		2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16024572C>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1545G>T	19.37:g.16024572C>A						CYP4F11_uc010eab.1_3'UTR|CYP4F11_uc002nbt.2_Silent_p.R515R	p.R515R	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN			13	1581	-			515						Silent	SNP	ENST00000402119.4	37	c.1545G>T	CCDS12337.1																																																																																				PASS	0.607	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		8	9	8	9	---	---	---	---
FAM129C	199786	broad.mit.edu	37	19	17660297	17660297	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:17660297G>A	ENST00000335393.4	+	15	1942	c.1804G>A	c.(1804-1806)Gac>Aac	p.D602N	FAM129C_ENST00000599124.1_Missense_Mutation_p.D535N|FAM129C_ENST00000601861.1_Missense_Mutation_p.D571N|FAM129C_ENST00000332386.5_Missense_Mutation_p.D602N|FAM129C_ENST00000595684.1_Missense_Mutation_p.D602N|FAM129C_ENST00000449408.2_Missense_Mutation_p.D328N|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000599164.1_Missense_Mutation_p.D571N|FAM129C_ENST00000352727.3_Missense_Mutation_p.D566N	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	602								p.D602N(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CTGCACTCTGGACGGCTGCTT	0.552																																						uc010xpr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1804-1806)GAC>AAC		B-cell novel protein 1 isoform a							122.0	117.0	119.0					19																	17660297		2203	4300	6503	SO:0001583	missense	199786							g.chr19:17660297G>A	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1804G>A	19.37:g.17660297G>A	ENSP00000335040:p.Asp602Asn					FAM129C_uc010xpq.1_Missense_Mutation_p.D602N|FAM129C_uc002ngy.3_Missense_Mutation_p.D328N|FAM129C_uc010xpu.1_Intron|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Missense_Mutation_p.D292N	p.D602N	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN			15	1942	+			602					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	c.1804G>A	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870546	0.33069	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000449408	T;T;T;T	0.27720	2.1;2.12;1.65;1.77	2.73	2.73	0.32206	.	0.935738	0.08741	N	0.900638	T	0.44138	0.1279	L	0.57536	1.79	0.09310	N	1	B;D;D;D	0.60160	0.384;0.982;0.962;0.987	B;P;P;P	0.56612	0.29;0.802;0.764;0.764	T	0.22871	-1.0204	10	0.59425	D	0.04	-2.6381	9.1444	0.36923	0.0:0.0:1.0:0.0	.	602;602;566;602	Q86XR2;Q86XR2-3;Q86XR2-4;Q86XR2-2	NIBL2_HUMAN;.;.;.	N	602;602;566;328	ENSP00000335040:D602N;ENSP00000333447:D602N;ENSP00000341067:D566N;ENSP00000394929:D328N	ENSP00000333447:D602N	D	+	1	0	FAM129C	17521297	0.043000	0.20138	0.003000	0.11579	0.002000	0.02628	3.375000	0.52410	1.858000	0.53909	0.557000	0.71058	GAC		PASS	0.552	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		27	69	27	69	---	---	---	---
ARRDC2	27106	broad.mit.edu	37	19	18120427	18120427	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:18120427G>C	ENST00000222250.4	+	4	659	c.516G>C	c.(514-516)aaG>aaC	p.K172N	ARRDC2_ENST00000379656.3_Missense_Mutation_p.K167N|ARRDC2_ENST00000608009.1_3'UTR	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	172					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)		p.K172N(1)|p.K167N(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						CTCGGGAAAAGGTTGCCCGAT	0.582																																						uc002nhv.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(514-516)AAG>AAC		arrestin domain containing 2 isoform 1							96.0	79.0	85.0					19																	18120427		2203	4300	6503	SO:0001583	missense	27106							g.chr19:18120427G>C		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.516G>C	19.37:g.18120427G>C	ENSP00000222250:p.Lys172Asn					ARRDC2_uc002nhu.2_Missense_Mutation_p.K167N	p.K172N	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN			4	659	+			172					B2RBG9|O95895|Q6ZRV9|Q8WYG6	Missense_Mutation	SNP	ENST00000222250.4	37	c.516G>C	CCDS12370.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652037	0.67472	.	.	ENSG00000105643	ENST00000379656;ENST00000222250	T;T	0.08546	3.08;3.08	4.87	0.0967	0.14491	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	T	0.25269	0.0614	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00995	-1.1487	10	0.87932	D	0	-24.0344	9.405	0.38455	0.386:0.0:0.614:0.0	.	172;167	Q8TBH0;Q8TBH0-2	ARRD2_HUMAN;.	N	167;172	ENSP00000368977:K167N;ENSP00000222250:K172N	ENSP00000222250:K172N	K	+	3	2	ARRDC2	17981427	0.998000	0.40836	0.097000	0.21041	0.961000	0.63080	2.323000	0.43823	-0.033000	0.13736	0.491000	0.48974	AAG		PASS	0.582	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		14	40	14	40	---	---	---	---
TMEM161A	54929	broad.mit.edu	37	19	19243311	19243311	+	Missense_Mutation	SNP	C	C	A	rs140905727		TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:19243311C>A	ENST00000162044.9	-	5	357	c.293G>T	c.(292-294)cGc>cTc	p.R98L	TMEM161A_ENST00000592147.1_5'Flank|TMEM161A_ENST00000587583.2_Intron|TMEM161A_ENST00000450333.2_Intron	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	98					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)		p.R98L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CAGGAAGAAGCGCAGGACTGT	0.587																																						uc002nlg.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(292-294)CGC>CTC		transmembrane protein 161A precursor							106.0	103.0	104.0					19																	19243311		2203	4300	6503	SO:0001583	missense	54929				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		g.chr19:19243311C>A	BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.293G>T	19.37:g.19243311C>A	ENSP00000162044:p.Arg98Leu					TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Intron|TMEM161A_uc002nli.2_Intron|TMEM161A_uc002nlj.2_5'UTR	p.R98L	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)		5	323	-			98			Extracellular (Potential).		B3KUE0|G5E9M6|Q7L2Y1	Missense_Mutation	SNP	ENST00000162044.9	37	c.293G>T	CCDS12393.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656316	0.47467	.	.	ENSG00000064545	ENST00000162044	.	.	.	3.35	2.3	0.28687	.	0.115587	0.64402	D	0.000013	T	0.58438	0.2122	M	0.72894	2.215	0.53005	D	0.999967	P	0.49447	0.924	P	0.46718	0.525	T	0.60637	-0.7224	9	0.59425	D	0.04	-4.3667	8.7944	0.34870	0.0:0.8825:0.0:0.1175	.	98	Q9NX61	T161A_HUMAN	L	98	.	ENSP00000162044:R98L	R	-	2	0	TMEM161A	19104311	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.657000	0.54474	0.762000	0.33152	-0.327000	0.08410	CGC		PASS	0.587	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460089.2	NM_017814		12	41	12	41	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30936105	30936105	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:30936105C>G	ENST00000355537.3	+	2	1783	c.1636C>G	c.(1636-1638)Cgc>Ggc	p.R546G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	546					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.R546G(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCCGCTGCAGCGCAACCACGA	0.562																																						uc002nsu.1																			2	Substitution - Missense(2)		lung(2)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1636-1638)CGC>GGC		zinc finger protein 536							75.0	81.0	79.0					19																	30936105		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936105C>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1636C>G	19.37:g.30936105C>G	ENSP00000347730:p.Arg546Gly					ZNF536_uc010edd.1_Missense_Mutation_p.R546G	p.R546G	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1774	+	Esophageal squamous(110;0.0834)		546					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1636C>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	2.367	-0.345235	0.05208	.	.	ENSG00000198597	ENST00000355537	T	0.46063	0.88	5.53	4.48	0.54585	.	0.296137	0.38837	N	0.001546	T	0.25717	0.0626	N	0.13098	0.295	0.39925	D	0.974218	B;B	0.31026	0.304;0.304	B;B	0.26416	0.069;0.069	T	0.06356	-1.0831	10	0.18710	T	0.47	-34.643	15.5642	0.76277	0.1391:0.8609:0.0:0.0	.	546;546	A7E228;O15090	.;ZN536_HUMAN	G	546	ENSP00000347730:R546G	ENSP00000347730:R546G	R	+	1	0	ZNF536	35627945	1.000000	0.71417	0.987000	0.45799	0.201000	0.24016	6.061000	0.71148	1.278000	0.44430	0.655000	0.94253	CGC		PASS	0.562	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		17	54	17	54	---	---	---	---
MAG	4099	broad.mit.edu	37	19	35791178	35791178	+	Missense_Mutation	SNP	C	C	T	rs200404904		TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:35791178C>T	ENST00000392213.3	+	6	1000	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	MAG_ENST00000537831.2_Missense_Mutation_p.R256W|MAG_ENST00000361922.4_Missense_Mutation_p.R281W	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	281	Ig-like C2-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.R281W(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GACAGTCCTCCGGGAGGCGGT	0.697																																						uc002nyy.1																			2	Substitution - Missense(2)		lung(2)	breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7						c.(841-843)CGG>TGG		myelin associated glycoprotein isoform a							19.0	21.0	21.0					19																	35791178		2203	4295	6498	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35791178C>T	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.841C>T	19.37:g.35791178C>T	ENSP00000376048:p.Arg281Trp					MAG_uc002nyx.1_Missense_Mutation_p.R281W|MAG_uc010eds.1_Missense_Mutation_p.R256W|MAG_uc002nyz.1_Missense_Mutation_p.R281W	p.R281W	NM_002361	NP_002352	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		6	990	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	281			Ig-like C2-type 2.|Extracellular (Potential).		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.841C>T	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	c	13.86	2.363240	0.41902	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.68903	-0.36;-0.36;-0.36	4.03	-0.0154	0.13976	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.133058	0.45361	D	0.000376	T	0.73560	0.3602	M	0.64567	1.98	0.35324	D	0.785008	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.64506	0.848;0.917;0.926	T	0.78211	-0.2292	10	0.66056	D	0.02	.	10.1596	0.42844	0.6997:0.3003:0.0:0.0	.	318;281;281	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	W	318;281;281;256	ENSP00000355234:R281W;ENSP00000376048:R281W;ENSP00000440695:R256W	ENSP00000262624:R318W	R	+	1	2	MAG	40483018	0.981000	0.34729	0.995000	0.50966	0.082000	0.17680	0.654000	0.24918	0.262000	0.21774	0.298000	0.19748	CGG		PASS	0.697	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		6	12	6	12	---	---	---	---
SIPA1L3	23094	broad.mit.edu	37	19	38682891	38682891	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:38682891G>T	ENST00000222345.6	+	17	5046	c.4537G>T	c.(4537-4539)Gac>Tac	p.D1513Y		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1513					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.D1513Y(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CATCGAGGATGACCTGAAGAA	0.587																																						uc002ohk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(4537-4539)GAC>TAC		signal-induced proliferation-associated 1 like							91.0	77.0	81.0					19																	38682891		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38682891G>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4537G>T	19.37:g.38682891G>T	ENSP00000222345:p.Asp1513Tyr						p.D1513Y	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		17	5046	+			1513					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.4537G>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622728	0.87460	.	.	ENSG00000105738	ENST00000222345	T	0.45276	0.9	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.63450	0.2512	M	0.64170	1.965	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.66626	-0.5876	10	0.87932	D	0	-42.5867	17.4876	0.87692	0.0:0.0:1.0:0.0	.	1513	O60292	SI1L3_HUMAN	Y	1513	ENSP00000222345:D1513Y	ENSP00000222345:D1513Y	D	+	1	0	SIPA1L3	43374731	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	8.415000	0.90241	2.409000	0.81822	0.455000	0.32223	GAC		PASS	0.587	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		9	19	9	19	---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41007885	41007885	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:41007885A>G	ENST00000352632.3	+	8	928	c.842A>G	c.(841-843)tAc>tGc	p.Y281C	SPTBN4_ENST00000344104.3_Missense_Mutation_p.Y281C|SPTBN4_ENST00000338932.3_Missense_Mutation_p.Y281C|SPTBN4_ENST00000598249.1_Missense_Mutation_p.Y281C|SPTBN4_ENST00000595535.1_Missense_Mutation_p.Y281C			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	281	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.Y281C(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTCTCTTTCTACCACTATTTC	0.522																																						uc002ony.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(841-843)TAC>TGC		spectrin, beta, non-erythrocytic 4 isoform							149.0	146.0	147.0					19																	41007885		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41007885A>G	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.842A>G	19.37:g.41007885A>G	ENSP00000263373:p.Tyr281Cys					SPTBN4_uc002onx.2_Missense_Mutation_p.Y281C|SPTBN4_uc002onz.2_Missense_Mutation_p.Y281C	p.Y281C	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		8	928	+			281			Actin-binding.|CH 2.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.842A>G	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796305	0.70567	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.61742	0.08;0.08;0.08	3.94	3.94	0.45596	Calponin homology domain (4);	0.248969	0.25932	U	0.027367	T	0.78691	0.4323	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	T	0.83180	-0.0089	10	0.87932	D	0	.	12.2194	0.54425	1.0:0.0:0.0:0.0	.	281;281	Q9H254;Q71S06	SPTN4_HUMAN;.	C	281	ENSP00000263373:Y281C;ENSP00000340345:Y281C;ENSP00000340741:Y281C	ENSP00000340345:Y281C	Y	+	2	0	SPTBN4	45699725	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.101000	0.94219	1.797000	0.52628	0.383000	0.25322	TAC		PASS	0.522	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			48	94	48	94	---	---	---	---
ZNF235	9310	broad.mit.edu	37	19	44793161	44793161	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:44793161C>T	ENST00000291182.4	-	5	529	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	143					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.V143M(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CCTGCTCCCACTTGACAGGGG	0.428																																						uc002oza.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(427-429)GTG>ATG		zinc finger protein 93 homolog							94.0	95.0	95.0					19																	44793161		2203	4300	6503	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44793161C>T	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.427G>A	19.37:g.44793161C>T	ENSP00000291182:p.Val143Met					ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.V139M|ZNF235_uc010xwx.1_Missense_Mutation_p.V57M	p.V143M	NM_004234	NP_004225	Q14590	ZN235_HUMAN			5	530	-		Prostate(69;0.0352)|all_neural(266;0.116)	143					B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.427G>A	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841332	0.32513	.	.	ENSG00000159917	ENST00000433015;ENST00000391957;ENST00000291182;ENST00000359844	T	0.05580	3.42	3.67	-1.94	0.07571	.	1.069190	0.07470	N	0.902085	T	0.05181	0.0138	L	0.34521	1.04	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.11329	0.006;0.002	T	0.44559	-0.9320	10	0.33940	T	0.23	.	6.4305	0.21794	0.0:0.3855:0.4361:0.1784	.	139;143	Q14590-2;Q14590	.;ZN235_HUMAN	M	139;143;143;65	ENSP00000291182:V143M	ENSP00000291182:V143M	V	-	1	0	ZNF235	49485001	0.005000	0.15991	0.000000	0.03702	0.829000	0.46940	0.629000	0.24538	-0.318000	0.08665	0.462000	0.41574	GTG		PASS	0.428	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			26	64	26	64	---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45368682	45368682	+	Silent	SNP	T	T	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:45368682T>C	ENST00000252483.5	+	2	243	c.243T>C	c.(241-243)aaT>aaC	p.N81N	PVRL2_ENST00000252485.4_Silent_p.N81N	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	81	Ig-like V-type.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)	p.N81N(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		ACCACCAGAATGTGGCCGCCT	0.647																																						uc002ozw.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(241-243)AAT>AAC		poliovirus receptor related 2 isoform delta							69.0	59.0	63.0					19																	45368682		2203	4300	6503	SO:0001819	synonymous_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45368682T>C	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.243T>C	19.37:g.45368682T>C						PVRL2_uc002ozv.2_Silent_p.N81N	p.N81N	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	2	633	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	81			Ig-like V-type.|Extracellular (Potential).		A8K5L5|O75455|Q6IBI6|Q96J29	Silent	SNP	ENST00000252483.5	37	c.243T>C	CCDS42576.1																																																																																				PASS	0.647	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		9	22	9	22	---	---	---	---
CLPTM1	1209	broad.mit.edu	37	19	45477734	45477734	+	Silent	SNP	A	A	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:45477734A>G	ENST00000337392.5	+	4	498	c.348A>G	c.(346-348)acA>acG	p.T116T	CLPTM1_ENST00000546079.1_Silent_p.T14T|CLPTM1_ENST00000541297.2_Silent_p.T102T	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	116					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.T116T(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AGCACTTTACAGACTTCAACG	0.557																																						uc002pai.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(346-348)ACA>ACG		cleft lip and palate associated transmembrane							153.0	120.0	131.0					19																	45477734		2203	4300	6503	SO:0001819	synonymous_variant	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45477734A>G	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.348A>G	19.37:g.45477734A>G						CLPTM1_uc010ejv.1_Silent_p.T14T|CLPTM1_uc010xxf.1_Silent_p.T14T|CLPTM1_uc010xxg.1_Silent_p.T102T	p.T116T	NM_001294	NP_001285	O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	4	363	+		all_neural(266;0.224)|Ovarian(192;0.231)	116			Extracellular (Potential).		B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP	ENST00000337392.5	37	c.348A>G	CCDS12651.1																																																																																				PASS	0.557	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		11	36	11	36	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47425108	47425108	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:47425108T>C	ENST00000404338.3	+	1	3176	c.3176T>C	c.(3175-3177)tTa>tCa	p.L1059S		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1059					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.L1059S(2)									CTATCTTATTTAGACCAAGGC	0.458																																						uc010ekv.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(3175-3177)TTA>TCA		glucocorticoid receptor DNA binding factor 1							39.0	37.0	37.0					19																	47425108		1893	4120	6013	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.chr19:47425108T>C	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.3176T>C	19.37:g.47425108T>C	ENSP00000385720:p.Leu1059Ser						p.L1059S	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	3176	+		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)	1059					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.3176T>C	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.372517	0.42003	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.08634	3.07	5.76	4.75	0.60458	.	0.276773	0.36002	N	0.002859	T	0.08758	0.0217	N	0.22421	0.69	0.41757	D	0.989695	B	0.28178	0.202	B	0.38755	0.281	T	0.25328	-1.0135	10	0.52906	T	0.07	-14.3535	10.3384	0.43862	0.0:0.0782:0.0:0.9218	.	1059	Q9NRY4-2	.	S	1059	ENSP00000385720:L1059S	ENSP00000324820:L1059S	L	+	2	0	ARHGAP35	52116948	0.992000	0.36948	0.643000	0.29450	0.994000	0.84299	2.806000	0.47947	2.200000	0.70718	0.533000	0.62120	TTA		PASS	0.458	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		9	16	9	16	---	---	---	---
ZNF808	388558	broad.mit.edu	37	19	53057901	53057901	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:53057901C>G	ENST00000359798.4	+	5	1912	c.1732C>G	c.(1732-1734)Caa>Gaa	p.Q578E		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	578					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.Q578E(1)		endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGCTTTTAATCAACAATCACA	0.373																																						uc010epq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1732-1734)CAA>GAA		zinc finger protein 808							94.0	99.0	97.0					19																	53057901		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53057901C>G	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1732C>G	19.37:g.53057901C>G	ENSP00000352846:p.Gln578Glu					ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	p.Q578E	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	1909	+			578			C2H2-type 13.		Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.1732C>G	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	7.800	0.713353	0.15306	.	.	ENSG00000198482	ENST00000359798	T	0.07327	3.2	1.54	0.321	0.15883	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	L	0.53671	1.685	0.09310	N	1	P	0.45428	0.858	P	0.50270	0.636	T	0.21965	-1.0230	9	0.30078	T	0.28	.	6.7413	0.23437	0.4949:0.5051:0.0:0.0	.	578	Q8N4W9	ZN808_HUMAN	E	578	ENSP00000352846:Q578E	ENSP00000352846:Q578E	Q	+	1	0	ZNF808	57749713	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-5.171000	0.00144	-0.028000	0.13850	0.306000	0.20318	CAA		PASS	0.373	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		30	65	30	65	---	---	---	---
FCAR	2204	broad.mit.edu	37	19	55401172	55401172	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:55401172C>A	ENST00000355524.3	+	5	817	c.807C>A	c.(805-807)agC>agA	p.S269R	FCAR_ENST00000391724.3_Missense_Mutation_p.S235R|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391725.3_Missense_Mutation_p.S247R|FCAR_ENST00000359272.4_Missense_Mutation_p.S257R|FCAR_ENST00000391726.3_Missense_Mutation_p.S161R|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000391723.3_3'UTR|FCAR_ENST00000345937.4_Missense_Mutation_p.S173R|FCAR_ENST00000353758.4_Missense_Mutation_p.S160R	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	269			S -> G (in dbSNP:rs16986050). {ECO:0000269|PubMed:17548632}.		immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.S269R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CGAGCTGGAGCCAACAGATGT	0.547																																						uc002qhr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(805-807)AGC>AGA		Fc alpha receptor isoform a precursor							153.0	154.0	153.0					19																	55401172		2203	4300	6503	SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55401172C>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.807C>A	19.37:g.55401172C>A	ENSP00000347714:p.Ser269Arg					FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.S220R|FCAR_uc010esi.1_Missense_Mutation_p.S146R|FCAR_uc002qhu.1_Missense_Mutation_p.S173R|FCAR_uc002qhv.1_Missense_Mutation_p.S247R|FCAR_uc002qhw.1_Missense_Mutation_p.S257R|FCAR_uc002qhx.1_Missense_Mutation_p.S161R|FCAR_uc002qhy.1_Missense_Mutation_p.S235R|FCAR_uc002qhz.1_3'UTR|FCAR_uc002qia.1_Missense_Mutation_p.S160R	p.S269R	NM_002000	NP_001991	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	5	1004	+			269			Cytoplasmic (Potential).		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.807C>A	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669187	0.29604	.	.	ENSG00000186431	ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000353758;ENST00000359272;ENST00000391724	T;T;T;T;T;T;T	0.04502	3.61;6.74;6.33;4.62;6.43;6.59;6.19	2.95	-5.39	0.02664	.	.	.	.	.	T	0.02418	0.0074	N	0.14661	0.345	0.09310	N	1	P;P;P;B;P;B;P	0.50272	0.933;0.883;0.524;0.021;0.808;0.113;0.76	B;B;B;B;B;B;B	0.42386	0.386;0.348;0.146;0.019;0.348;0.084;0.365	T	0.24476	-1.0159	9	0.72032	D	0.01	.	0.9061	0.01284	0.1596:0.1711:0.3217:0.3476	.	160;235;161;257;247;173;269	Q92592;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071	.;.;.;.;.;.;FCAR_HUMAN	R	161;269;247;173;160;257;235	ENSP00000375606:S161R;ENSP00000347714:S269R;ENSP00000375605:S247R;ENSP00000338257:S173R;ENSP00000338058:S160R;ENSP00000352218:S257R;ENSP00000375604:S235R	ENSP00000338257:S173R	S	+	3	2	FCAR	60092984	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.115000	0.03289	-1.237000	0.02539	-2.311000	0.00256	AGC		PASS	0.547	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		30	75	30	75	---	---	---	---
DUXA	503835	broad.mit.edu	37	19	57678802	57678802	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr19:57678802C>A	ENST00000554048.2	-	1	9	c.10G>T	c.(10-12)Gac>Tac	p.D4Y		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D4Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		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;0.0123)		GAATAGGTGTCTTCGGCCATG	0.502																																						uc002qoa.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(10-12)GAC>TAC		double homeobox A							159.0	152.0	155.0					19																	57678802		2203	4300	6503	SO:0001583	missense	503835					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:57678802C>A		CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"""Homeoboxes / PRD class"""	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.10G>T	19.37:g.57678802C>A	ENSP00000452398:p.Asp4Tyr						p.D4Y	NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)	1	55	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	4						Missense_Mutation	SNP	ENST00000554048.2	37	c.10G>T	CCDS33126.1	.	.	.	.	.	.	.	.	.	.	C	8.167	0.790855	0.16258	.	.	ENSG00000258873	ENST00000554048	D	0.92149	-2.98	2.73	-1.92	0.07618	.	.	.	.	.	D	0.87014	0.6072	L	0.34521	1.04	0.09310	N	1	D	0.55385	0.971	P	0.47299	0.543	T	0.78755	-0.2080	9	0.87932	D	0	-0.8309	6.1636	0.20378	0.0:0.4408:0.0:0.5592	.	4	A6NLW8	DUXA_HUMAN	Y	4	ENSP00000452398:D4Y	ENSP00000365415:D4Y	D	-	1	0	DUXA	62370614	0.001000	0.12720	0.000000	0.03702	0.036000	0.12997	0.100000	0.15231	-0.348000	0.08286	0.650000	0.86243	GAC		PASS	0.502	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410075.3	NM_001012729		27	66	27	66	---	---	---	---
NKX2-2	4821	broad.mit.edu	37	20	21492936	21492936	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr20:21492936C>A	ENST00000377142.4	-	2	803	c.447G>T	c.(445-447)caG>caT	p.Q149H	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	149					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.Q149H(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGTACCGCTGCTGCCGAAAGC	0.672																																						uc002wsi.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(445-447)CAG>CAT		NK2 transcription factor related, locus 2							23.0	26.0	25.0					20																	21492936		2202	4299	6501	SO:0001583	missense	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21492936C>A	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.447G>T	20.37:g.21492936C>A	ENSP00000366347:p.Gln149His						p.Q149H	NM_002509	NP_002500	O95096	NKX22_HUMAN			2	804	-			149			Homeobox.			Missense_Mutation	SNP	ENST00000377142.4	37	c.447G>T	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686429	0.68157	.	.	ENSG00000125820	ENST00000377142	D	0.96334	-3.98	4.98	3.05	0.35203	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96445	0.8840	L	0.48986	1.54	0.80722	D	1	D	0.56287	0.975	D	0.64877	0.93	D	0.94820	0.7986	10	0.46703	T	0.11	.	10.4815	0.44695	0.0:0.8401:0.0:0.1599	.	149	O95096	NKX22_HUMAN	H	149	ENSP00000366347:Q149H	ENSP00000366347:Q149H	Q	-	3	2	NKX2-2	21440936	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.861000	0.27885	0.503000	0.28060	0.462000	0.41574	CAG		PASS	0.672	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			8	27	8	27	---	---	---	---
PLAGL2	5326	broad.mit.edu	37	20	30784376	30784376	+	Missense_Mutation	SNP	G	G	T	rs142086831		TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr20:30784376G>T	ENST00000246229.4	-	3	1634	c.1370C>A	c.(1369-1371)cCt>cAt	p.P457H		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	457					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P457H(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAATCTTGAGGCTGAGCTTG	0.622																																					Colon(163;15 1893 11280 16306 47518)	uc002wxn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1369-1371)CCT>CAT		pleiomorphic adenoma gene-like 2							43.0	44.0	44.0					20																	30784376		2203	4300	6503	SO:0001583	missense	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30784376G>T		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1370C>A	20.37:g.30784376G>T	ENSP00000246229:p.Pro457His						p.P457H	NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	1587	-			457					A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	c.1370C>A	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.428764	0.62844	.	.	ENSG00000126003	ENST00000246229	T	0.09350	2.99	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.24392	0.0591	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	P	0.62813	0.907	T	0.00516	-1.1694	10	0.62326	D	0.03	.	18.5089	0.90909	0.0:0.0:1.0:0.0	.	457	Q9UPG8	PLAL2_HUMAN	H	457	ENSP00000246229:P457H	ENSP00000246229:P457H	P	-	2	0	PLAGL2	30248037	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.646000	0.98474	2.595000	0.87683	0.655000	0.94253	CCT		PASS	0.622	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		6	19	6	19	---	---	---	---
EMILIN3	90187	broad.mit.edu	37	20	39991677	39991677	+	Silent	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr20:39991677G>A	ENST00000332312.3	-	4	724	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	178						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)		p.L178L(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				TCACCAAACAGCCCTGGGCCT	0.597																																						uc002xjy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(532-534)CTG>TTG		elastin microfibril interfacer 3							15.0	15.0	15.0					20																	39991677		2200	4294	6494	SO:0001819	synonymous_variant	90187					proteinaceous extracellular matrix		g.chr20:39991677G>A	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.532C>T	20.37:g.39991677G>A							p.L178L	NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN			4	756	-		Myeloproliferative disorder(115;0.00425)	178					Q495S5|Q495S6|Q495S7|Q76KT4	Silent	SNP	ENST00000332312.3	37	c.532C>T	CCDS13316.1																																																																																				PASS	0.597	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		5	5	5	5	---	---	---	---
NPEPL1	79716	broad.mit.edu	37	20	57273764	57273764	+	Missense_Mutation	SNP	G	G	A	rs373363596		TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr20:57273764G>A	ENST00000356091.6	+	4	820	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	NPEPL1_ENST00000525817.1_Missense_Mutation_p.V130M|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Missense_Mutation_p.V150M	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	178						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)	p.V178M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CACAGACGGCGTGCGGCTAGC	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16518	0.0		0.0	False		,,,				2504	0.0					uc010zzs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(532-534)GTG>ATG		aminopeptidase-like 1		G	MET/VAL,MET/VAL,MET/VAL	1,4083		0,1,2041	55.0	59.0	58.0		448,388,532	5.1	1.0	20		58	0,8356		0,0,4178	no	missense,missense,missense	NPEPL1	NM_001204872.1,NM_001204873.1,NM_024663.3	21,21,21	0,1,6219	AA,AG,GG		0.0,0.0245,0.0080	possibly-damaging,possibly-damaging,possibly-damaging	150/496,130/476,178/524	57273764	1,12439	2042	4178	6220	SO:0001583	missense	79716				proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	g.chr20:57273764G>A	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.532G>A	20.37:g.57273764G>A	ENSP00000348395:p.Val178Met					NPEPL1_uc010zzr.1_Missense_Mutation_p.V130M|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.V150M|NPEPL1_uc002xzp.2_Missense_Mutation_p.V66M	p.V178M	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)		4	627	+	all_lung(29;0.0175)		178					A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	ENST00000356091.6	37	c.532G>A	CCDS46621.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.133835	0.56828	2.45E-4	0.0	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.52295	0.67;0.67;0.67	5.14	5.14	0.70334	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.062965	0.64402	D	0.000007	T	0.61739	0.2371	L	0.55481	1.735	0.58432	D	0.999992	P;P;D;D	0.65815	0.954;0.868;0.987;0.995	P;P;P;D	0.68483	0.641;0.508;0.897;0.958	T	0.62586	-0.6823	10	0.54805	T	0.06	-33.0001	13.0391	0.58889	0.0804:0.0:0.9196:0.0	.	178;130;150;178	Q8NDH3;G5EA34;E9PN47;Q8NDH3-3	PEPL1_HUMAN;.;.;.	M	150;130;178	ENSP00000434810:V150M;ENSP00000437112:V130M;ENSP00000348395:V178M	ENSP00000348395:V178M	V	+	1	0	NPEPL1	56707171	1.000000	0.71417	0.999000	0.59377	0.346000	0.29079	7.575000	0.82447	2.397000	0.81536	0.563000	0.77884	GTG		PASS	0.602	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		7	30	7	30	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10942991	10942991	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr21:10942991A>T	ENST00000361285.4	-	12	925	c.596T>A	c.(595-597)cTt>cAt	p.L199H	TPTE_ENST00000298232.7_Missense_Mutation_p.L181H|TPTE_ENST00000342420.5_Missense_Mutation_p.L161H|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	199					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L181H(1)|p.L199H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGAATAATAAGTCGTAGAAG	0.308																																						uc002yip.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(595-597)CTT>CAT		transmembrane phosphatase with tensin homology							77.0	72.0	74.0					21																	10942991		2203	4298	6501	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10942991A>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.596T>A	21.37:g.10942991A>T	ENSP00000355208:p.Leu199His					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.L181H|TPTE_uc002yir.1_Missense_Mutation_p.L161H|TPTE_uc010gkv.1_Missense_Mutation_p.L61H	p.L199H	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	12	964	-			199					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.596T>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	10.66	1.412958	0.25465	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98876	-5.2;-5.2;-5.2	2.07	2.07	0.26955	Ion transport (1);	0.059609	0.64402	U	0.000006	D	0.98720	0.9570	M	0.79805	2.47	0.32714	N	0.511266	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.983;0.983;0.995	D	0.97847	1.0272	10	0.87932	D	0	-10.9677	8.0889	0.30788	1.0:0.0:0.0:0.0	.	161;181;199	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	H	181;199;161	ENSP00000298232:L181H;ENSP00000355208:L199H;ENSP00000344441:L161H	ENSP00000298232:L181H	L	-	2	0	TPTE	9964862	1.000000	0.71417	0.096000	0.21009	0.042000	0.13812	5.977000	0.70492	1.204000	0.43247	0.163000	0.16589	CTT		PASS	0.308	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			8	53	8	53	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22849615	22849615	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr21:22849615G>A	ENST00000400546.1	+	15	2149	c.1900G>A	c.(1900-1902)Gat>Aat	p.D634N	NCAM2_ENST00000284894.7_Missense_Mutation_p.D492N	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	634	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D634N(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TTCACAGAAAGATAAGGAAGA	0.328																																						uc002yld.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1900-1902)GAT>AAT		neural cell adhesion molecule 2 precursor							77.0	71.0	73.0					21																	22849615		1822	4083	5905	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22849615G>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1900G>A	21.37:g.22849615G>A	ENSP00000383392:p.Asp634Asn					NCAM2_uc011acb.1_Missense_Mutation_p.D492N	p.D634N	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	15	2149	+		Lung NSC(9;0.195)	634			Fibronectin type-III 2.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.1900G>A	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616680	0.66672	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.56103	0.48;0.48	5.37	5.37	0.77165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	T	0.43442	-0.9391	10	0.07990	T	0.79	-33.2583	17.8551	0.88760	0.0:0.0:1.0:0.0	.	492;634	B7Z5K2;O15394	.;NCAM2_HUMAN	N	634;492	ENSP00000383392:D634N;ENSP00000284894:D492N	ENSP00000284894:D492N	D	+	1	0	NCAM2	21771486	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.718000	0.91430	2.798000	0.96311	0.650000	0.86243	GAT		PASS	0.328	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		9	17	9	17	---	---	---	---
LTN1	26046	broad.mit.edu	37	21	30302818	30302818	+	Silent	SNP	T	T	C			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr21:30302818T>C	ENST00000361371.5	-	30	5332	c.5253A>G	c.(5251-5253)acA>acG	p.T1751T	LTN1_ENST00000389194.2_Silent_p.T1797T			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1751					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.T1751T(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TGTTGCTAGATGTAAACCATT	0.338																																						uc002ymr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(5389-5391)ACA>ACG		zinc finger protein 294							94.0	98.0	96.0					21																	30302818		2203	4300	6503	SO:0001819	synonymous_variant	26046						ligase activity|zinc ion binding	g.chr21:30302818T>C	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.5253A>G	21.37:g.30302818T>C							p.T1797T	NM_015565	NP_056380	O94822	LTN1_HUMAN			30	5404	-			1751			RING-type.		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	ENST00000361371.5	37	c.5391A>G																																																																																					PASS	0.338	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		17	59	17	59	---	---	---	---
ZNF74	7625	broad.mit.edu	37	22	20760468	20760468	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr22:20760468A>G	ENST00000400451.2	+	5	1659	c.1145A>G	c.(1144-1146)cAc>cGc	p.H382R	ZNF74_ENST00000356671.5_Missense_Mutation_p.H382R|ZNF74_ENST00000405993.1_Missense_Mutation_p.H350R|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	382					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H382R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CACCGCATCCACACGGGCGAG	0.657																																						uc010gsm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1144-1146)CAC>CGC		zinc finger protein 74							47.0	59.0	55.0					22																	20760468		2203	4300	6503	SO:0001583	missense	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20760468A>G	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.1145A>G	22.37:g.20760468A>G	ENSP00000383301:p.His382Arg					ZNF74_uc002zsg.2_Missense_Mutation_p.H311R|ZNF74_uc002zsh.2_Missense_Mutation_p.H382R|ZNF74_uc002zsi.2_Missense_Mutation_p.H311R|ZNF74_uc010gsn.2_Missense_Mutation_p.H311R	p.H382R	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		6	1357	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	382			C2H2-type 5.		B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.1145A>G	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.679308	0.68042	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.67523	-0.27;-0.27;-0.27	3.83	2.76	0.32466	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000707	T	0.74718	0.3753	M	0.90595	3.13	0.31230	N	0.696463	P	0.52692	0.955	P	0.49301	0.606	T	0.77996	-0.2377	10	0.87932	D	0	-40.8152	7.9741	0.30145	0.8959:0.0:0.1041:0.0	.	382	Q16587	ZNF74_HUMAN	R	382;382;350	ENSP00000383301:H382R;ENSP00000349098:H382R;ENSP00000385855:H350R	ENSP00000349098:H382R	H	+	2	0	ZNF74	19090468	1.000000	0.71417	0.981000	0.43875	0.955000	0.61496	4.630000	0.61297	0.778000	0.33520	0.533000	0.62120	CAC		PASS	0.657	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		10	34	10	34	---	---	---	---
EIF4ENIF1	56478	broad.mit.edu	37	22	31835938	31835938	+	Silent	SNP	A	A	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr22:31835938A>G	ENST00000397525.1	-	19	3109	c.2886T>C	c.(2884-2886)gaT>gaC	p.D962D	EIF4ENIF1_ENST00000330125.5_Silent_p.D962D|EIF4ENIF1_ENST00000397523.1_Silent_p.D938D|EIF4ENIF1_ENST00000344710.5_Silent_p.D788D|EIF4ENIF1_ENST00000382180.2_Silent_p.D617D|EIF4ENIF1_ENST00000441289.1_5'Flank	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	962						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.D962D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCTGTAGCACATCTGAGCCAA	0.602																																						uc003akz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2884-2886)GAT>GAC		eukaryotic translation initiation factor 4E							103.0	85.0	91.0					22																	31835938		2203	4300	6503	SO:0001819	synonymous_variant	56478					nucleus	protein binding|protein transporter activity	g.chr22:31835938A>G	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2886T>C	22.37:g.31835938A>G						EIF4ENIF1_uc003akx.1_Silent_p.D617D|EIF4ENIF1_uc003aky.1_Silent_p.D642D|EIF4ENIF1_uc003ala.1_Silent_p.D962D|EIF4ENIF1_uc003alb.1_Silent_p.D788D|EIF4ENIF1_uc003akw.1_Silent_p.D452D	p.D962D	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN			19	3050	-			962					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Silent	SNP	ENST00000397525.1	37	c.2886T>C	CCDS13898.1																																																																																				PASS	0.602	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		9	51	9	51	---	---	---	---
TNFRSF13C	115650	broad.mit.edu	37	22	42321458	42321458	+	Silent	SNP	T	T	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr22:42321458T>G	ENST00000291232.3	-	3	512	c.468A>C	c.(466-468)ccA>ccC	p.P156P	MIR378I_ENST00000582688.1_RNA|CTA-250D10.23_ENST00000566575.1_lincRNA	NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	156					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of germinal center formation (GO:0002636)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.P156P(1)		lung(2)|urinary_tract(1)	3						TGTGGCCAGGTGGGGTGGTTC	0.637																																						uc003bbl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(466-468)CCA>CCC		BAFF receptor							45.0	48.0	47.0					22																	42321458		2202	4300	6502	SO:0001819	synonymous_variant	115650					integral to membrane	receptor activity	g.chr22:42321458T>G	AF373846	CCDS14024.1	22q13.1-q13.3	2014-09-17			ENSG00000159958	ENSG00000159958		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	17755	protein-coding gene	gene with protein product		606269				11509692	Standard	NM_052945		Approved	BAFFR, CD268	uc003bbl.2	Q96RJ3	OTTHUMG00000151271	ENST00000291232.3:c.468A>C	22.37:g.42321458T>G						WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Silent_p.P157P	p.P156P	NM_052945	NP_443177	Q96RJ3	TR13C_HUMAN			3	512	-			156			Cytoplasmic (Potential).			Silent	SNP	ENST00000291232.3	37	c.468A>C	CCDS14024.1																																																																																				PASS	0.637	TNFRSF13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322046.1			5	46	5	46	---	---	---	---
ARSF	416	broad.mit.edu	37	X	3030249	3030249	+	Silent	SNP	G	G	C	rs367903874		TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chrX:3030249G>C	ENST00000381127.1	+	11	1646	c.1425G>C	c.(1423-1425)ccG>ccC	p.P475P	ARSF_ENST00000359361.2_Silent_p.P475P|ARSF_ENST00000537104.1_Silent_p.P475P	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	475					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)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.P475P(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				ATGTGACCCCGGTATTCCAGC	0.512																																						uc004cre.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1423-1425)CCG>CCC		arylsulfatase F precursor							63.0	62.0	62.0					X																	3030249		2203	4300	6503	SO:0001819	synonymous_variant	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3030249G>C	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1425G>C	X.37:g.3030249G>C						ARSF_uc004crf.1_Silent_p.P475P	p.P475P	NM_004042	NP_004033	P54793	ARSF_HUMAN			11	1646	+		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)	475					Q8TCC5	Silent	SNP	ENST00000381127.1	37	c.1425G>C	CCDS14123.1																																																																																				PASS	0.512	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			20	10	20	10	---	---	---	---
TLR8	51311	broad.mit.edu	37	X	12937337	12937337	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chrX:12937337A>G	ENST00000218032.6	+	2	265	c.178A>G	c.(178-180)Acg>Gcg	p.T60A	TLR8_ENST00000311912.5_Missense_Mutation_p.T78A	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	60					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.T78A(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	AGTTCCCCAAACGGTGGGCAA	0.383																																						uc004cve.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|large_intestine(1)	7						c.(178-180)ACG>GCG		toll-like receptor 8 precursor							101.0	93.0	96.0					X																	12937337		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12937337A>G	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.178A>G	X.37:g.12937337A>G	ENSP00000218032:p.Thr60Ala					TLR8_uc004cvd.2_Missense_Mutation_p.T78A	p.T60A	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	246	+			60			Extracellular (Potential).		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.178A>G	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.802264	0.31869	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.40476	1.03;1.03	5.17	3.98	0.46160	.	0.510950	0.15104	N	0.280327	T	0.31513	0.0799	L	0.27053	0.805	0.09310	N	1	P;P	0.44309	0.696;0.832	B;P	0.46510	0.214;0.519	T	0.09314	-1.0680	10	0.34782	T	0.22	.	3.9598	0.09405	0.5994:0.1856:0.215:0.0	.	60;78	Q9NR97;D1CS70	TLR8_HUMAN;.	A	60;78	ENSP00000218032:T60A;ENSP00000312082:T78A	ENSP00000218032:T60A	T	+	1	0	TLR8	12847258	0.038000	0.19896	0.202000	0.23494	0.503000	0.33858	2.684000	0.46951	1.736000	0.51660	0.425000	0.28330	ACG		PASS	0.383	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		3	41	3	41	---	---	---	---
DMD	1756	broad.mit.edu	37	X	31462724	31462724	+	Silent	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chrX:31462724C>T	ENST00000357033.4	-	60	9164	c.8958G>A	c.(8956-8958)gcG>gcA	p.A2986A	DMD_ENST00000343523.2_Silent_p.A526A|DMD_ENST00000359836.1_Silent_p.A526A|DMD_ENST00000378677.2_Silent_p.A2982A|DMD_ENST00000541735.1_Silent_p.A526A|DMD_ENST00000474231.1_Silent_p.A526A|DMD_ENST00000378707.3_Silent_p.A526A	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	2986					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.A526A(1)|p.A2986A(1)|p.A1645A(1)|p.A2981A(1)|p.A2982A(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)				CTTTCAGAGGCGCAATTTCTC	0.453																																						uc004dda.1																			5	Substitution - coding silent(5)		lung(5)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(8956-8958)GCG>GCA		dystrophin Dp427m isoform							142.0	107.0	119.0					X																	31462724		2202	4300	6502	SO:0001819	synonymous_variant	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:31462724C>T	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.8958G>A	X.37:g.31462724C>T						DMD_uc004dcq.1_Silent_p.A257A|DMD_uc004dcr.1_Silent_p.A526A|DMD_uc004dcs.1_Silent_p.A526A|DMD_uc004dct.1_Silent_p.A526A|DMD_uc004dcu.1_Silent_p.A526A|DMD_uc004dcv.1_Silent_p.A526A|DMD_uc004dcw.2_Silent_p.A1642A|DMD_uc004dcx.2_Silent_p.A1645A|DMD_uc004dcz.2_Silent_p.A2863A|DMD_uc004dcy.1_Silent_p.A2982A|DMD_uc004ddb.1_Silent_p.A2978A	p.A2986A	NM_004006	NP_003997	P11532	DMD_HUMAN			60	9202	-		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)	2986			Spectrin 22.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.8958G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	c	9.373	1.071107	0.20147	.	.	ENSG00000198947	ENST00000465285	T	0.53640	0.61	5.64	-0.0699	0.13750	.	0.244723	0.20286	U	0.095345	T	0.44265	0.1285	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17837	-1.0356	6	.	.	.	.	7.0866	0.25261	0.0:0.3628:0.2054:0.4318	.	.	.	.	T	715	ENSP00000420046:A715T	.	A	-	1	0	DMD	31372645	0.523000	0.26274	0.995000	0.50966	0.793000	0.44817	-0.417000	0.07088	-0.280000	0.09154	-0.330000	0.08379	GCC		PASS	0.453	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		11	6	11	6	---	---	---	---
MAOB	4129	broad.mit.edu	37	X	43702931	43702931	+	Silent	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chrX:43702931C>T	ENST00000378069.4	-	2	273	c.126G>A	c.(124-126)agG>agA	p.R42R	MAOB_ENST00000538942.1_Silent_p.R26R|MAOB_ENST00000487544.1_5'UTR|MAOB_ENST00000536181.1_Silent_p.R26R	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	42	Arg/Lys-rich (basic).				negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)	p.R42R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	GAGTGTAAGTCCTGCCTCCCA	0.483																																						uc004dfz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(124-126)AGG>AGA		monoamine oxidase B	Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)						91.0	75.0	81.0					X																	43702931		2203	4300	6503	SO:0001819	synonymous_variant	4129				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	g.chrX:43702931C>T		CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.126G>A	X.37:g.43702931C>T						MAOB_uc011mkx.1_Silent_p.R26R|MAOB_uc011mky.1_Silent_p.R26R|MAOB_uc010nhj.2_Silent_p.R42R	p.R42R	NM_000898	NP_000889	P27338	AOFB_HUMAN			2	302	-			42			Arg/Lys-rich (basic).|Cytoplasmic.		B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Silent	SNP	ENST00000378069.4	37	c.126G>A	CCDS14261.1																																																																																				PASS	0.483	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1	NM_000898		16	8	16	8	---	---	---	---
PGAM4	441531	broad.mit.edu	37	X	77224608	77224608	+	Silent	SNP	C	C	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chrX:77224608C>T	ENST00000458128.1	-	1	527	c.528G>A	c.(526-528)aaG>aaA	p.K176K	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	176					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)	p.K176K(1)		endometrium(2)|lung(4)	6						GTTTCCCCTCCTTGATCTGGG	0.522																																						uc004ecy.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(526-528)AAG>AAA		bisphosphoglycerate mutase 4							68.0	66.0	67.0					X																	77224608		2203	4293	6496	SO:0001819	synonymous_variant	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224608C>T	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"""phosphoglycerate mutase family 4"""			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.528G>A	X.37:g.77224608C>T						ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron	p.K176K	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN			1	528	-			176					Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Silent	SNP	ENST00000458128.1	37	c.528G>A	CCDS35338.1																																																																																				PASS	0.522	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891		33	12	33	12	---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77301842	77301842	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chrX:77301842A>G	ENST00000341514.6	+	23	4433	c.4278A>G	c.(4276-4278)atA>atG	p.I1426M	ATP7A_ENST00000343533.5_Missense_Mutation_p.I1348M|ATP7A_ENST00000350425.4_Missense_Mutation_p.I429M	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1426					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)	p.I1426M(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GGAGCCAGATAGGACAGAAGA	0.403																																						uc004ecx.3																			2	Substitution - Missense(2)		lung(2)		0						c.(4276-4278)ATA>ATG		ATPase, Cu++ transporting, alpha polypeptide							145.0	139.0	141.0					X																	77301842		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77301842A>G	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.4278A>G	X.37:g.77301842A>G	ENSP00000345728:p.Ile1426Met						p.I1426M	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			23	4438	+			1426			Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.4278A>G	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	A	7.545	0.661526	0.14645	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	T;T;T	0.66815	-0.23;-0.23;-0.23	4.97	2.75	0.32379	.	0.412725	0.28312	N	0.015818	T	0.26085	0.0636	N	0.00521	-1.4	0.26207	N	0.979357	B	0.02656	0.0	B	0.04013	0.001	T	0.29579	-1.0007	10	0.08599	T	0.76	1.5708	6.8914	0.24232	0.307:0.0:0.693:0.0	.	1426	Q04656	ATP7A_HUMAN	M	1348;429;1426	ENSP00000343026:I1348M;ENSP00000343678:I429M;ENSP00000345728:I1426M	ENSP00000345728:I1426M	I	+	3	3	ATP7A	77188498	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	1.751000	0.38339	0.665000	0.31066	0.417000	0.27973	ATA		PASS	0.403	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		57	27	57	27	---	---	---	---
PABPC5	140886	broad.mit.edu	37	X	90691561	90691561	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chrX:90691561A>T	ENST00000312600.3	+	2	1199	c.985A>T	c.(985-987)Agt>Tgt	p.S329C	PABPC5_ENST00000373105.1_Missense_Mutation_p.S165C|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	329	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S329C(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TGGGTCAATTAGTCGGGCCAA	0.443																																						uc004efg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(985-987)AGT>TGT		poly(A) binding protein, cytoplasmic 5							63.0	62.0	62.0					X																	90691561		2202	4300	6502	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691561A>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.985A>T	X.37:g.90691561A>T	ENSP00000308012:p.Ser329Cys					PABPC5_uc004eff.1_Missense_Mutation_p.S165C	p.S329C	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN			2	1425	+			329			RRM 4.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.985A>T	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.970524	0.34754	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.16897	2.31;2.31	4.14	4.14	0.48551	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.049487	0.85682	D	0.000000	T	0.15696	0.0378	L	0.45285	1.41	0.44685	D	0.997679	B	0.26195	0.144	B	0.24701	0.055	T	0.04621	-1.0938	10	0.87932	D	0	.	10.5532	0.45101	1.0:0.0:0.0:0.0	.	329	Q96DU9	PABP5_HUMAN	C	165;329;297	ENSP00000362197:S165C;ENSP00000308012:S329C	ENSP00000308012:S329C	S	+	1	0	PABPC5	90578217	1.000000	0.71417	0.955000	0.39395	0.879000	0.50718	8.493000	0.90474	1.854000	0.53819	0.430000	0.28490	AGT		PASS	0.443	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		20	10	20	10	---	---	---	---
ZDHHC9	51114	broad.mit.edu	37	X	128957694	128957694	+	Missense_Mutation	SNP	G	G	A	rs137852215		TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chrX:128957694G>A	ENST00000357166.6	-	5	839	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.P150S|AL359542.1_ENST00000582964.1_RNA|ZDHHC9_ENST00000491039.1_5'UTR	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	150			P -> S (in MRXSZ). {ECO:0000269|PubMed:17436253, ECO:0000269|PubMed:19377476}.		peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)	p.P150S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						GAGGCCCGGGGAGGCCGGAAG	0.507																																						uc004euv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1	GRCh37	CM072123	ZDHHC9	M	rs137852215	c.(448-450)CCC>TCC		zinc finger, DHHC domain containing 9							123.0	116.0	118.0					X																	128957694		2203	4300	6503	SO:0001583	missense	51114					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chrX:128957694G>A	AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.448C>T	X.37:g.128957694G>A	ENSP00000349689:p.Pro150Ser					ZDHHC9_uc004euw.2_Missense_Mutation_p.P150S|ZDHHC9_uc004eux.1_Missense_Mutation_p.P150S|ZDHHC9_uc004euy.1_Missense_Mutation_p.P77S	p.P150S	NM_001008222	NP_001008223	Q9Y397	ZDHC9_HUMAN			4	817	-			150		P -> S (in MRXSZ).	Cytoplasmic (Potential).|DHHC-type.		B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	ENST00000357166.6	37	c.448C>T	CCDS35395.1	.	.	.	.	.	.	.	.	.	.	g	26.4	4.736743	0.89482	.	.	ENSG00000188706	ENST00000357166;ENST00000371064;ENST00000406492	T;T;T	0.26810	1.71;1.71;1.71	5.66	5.66	0.87406	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.62036	0.2395	M	0.90922	3.16	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71560	-0.4556	9	0.87932	D	0	-13.7181	18.3342	0.90282	0.0:0.0:1.0:0.0	.	150	Q9Y397	ZDHC9_HUMAN	S	150	ENSP00000349689:P150S;ENSP00000360103:P150S;ENSP00000383991:P150S	ENSP00000349689:P150S	P	-	1	0	ZDHHC9	128785375	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.436000	0.97532	2.369000	0.80426	0.597000	0.82753	CCC		PASS	0.507	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032		33	27	33	27	---	---	---	---
GABRA3	2556	broad.mit.edu	37	X	151336921	151336921	+	Missense_Mutation	SNP	C	C	T	rs202150301		TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chrX:151336921C>T	ENST00000370314.4	-	10	1496	c.1258G>A	c.(1258-1260)Gct>Act	p.A420T	GABRA3_ENST00000535043.1_Missense_Mutation_p.A420T|RP11-329E24.6_ENST00000453915.1_RNA	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	420					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A420T(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				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)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTGGGAGCAGCGCCCTTGGAG	0.552																																					NSCLC(142;2578 2613 10251 16743)	uc010ntk.1																			2	Substitution - Missense(2)	p.A420T(1)	ovary(1)|lung(1)	ovary(1)	1						c.(1258-1260)GCT>ACT		gamma-aminobutyric acid A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						301.0	243.0	263.0					X																	151336921		2203	4300	6503	SO:0001583	missense	2556				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.chrX:151336921C>T		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1258G>A	X.37:g.151336921C>T	ENSP00000359337:p.Ala420Thr						p.A420T	NM_000808	NP_000799	P34903	GBRA3_HUMAN			10	1498	-	Acute lymphoblastic leukemia(192;6.56e-05)		420			Cytoplasmic (Probable).		Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.1258G>A	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420034	0.42918	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.82081	-1.57;-1.57;-1.57	4.71	3.85	0.44370	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.518559	0.21905	N	0.067399	T	0.73156	0.3551	N	0.13098	0.295	0.52501	D	0.999952	D	0.58268	0.982	P	0.50109	0.631	T	0.66795	-0.5833	10	0.15952	T	0.53	.	10.2929	0.43608	0.0:0.8981:0.0:0.1019	.	420	P34903	GBRA3_HUMAN	T	420	ENSP00000359337:A420T;ENSP00000359334:A420T;ENSP00000443527:A420T	ENSP00000359334:A420T	A	-	1	0	GABRA3	151087577	1.000000	0.71417	0.311000	0.25182	0.876000	0.50452	5.844000	0.69430	0.903000	0.36546	-0.195000	0.12781	GCT		PASS	0.552	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		64	31	64	31	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098935	178098937	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr2:178098935_178098937delAAT	ENST00000397062.3	-	2	662_664	c.108_110delATT	c.(106-111)gtattt>gtt	p.F37del	NFE2L2_ENST00000446151.2_In_Frame_Del_p.F21del|NFE2L2_ENST00000464747.1_In_Frame_Del_p.F21del|NFE2L2_ENST00000397063.4_In_Frame_Del_p.F21del|NFE2L2_ENST00000423513.1_In_Frame_Del_p.F21del	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	37					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V36_F37insSREV(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTGAAGTCAAATACTTCTCGAC	0.384			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		1	Insertion - In frame(1)		oesophagus(1)	central_nervous_system(1)	1						c.(106-111)GTATTT>GTT		nuclear factor erythroid 2-like 2 isoform 1																																				SO:0001651	inframe_deletion	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098935_178098937delAAT		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.108_110delATT	2.37:g.178098935_178098937delAAT	ENSP00000380252:p.Phe37del	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_In_Frame_Del_p.F21del|NFE2L2_uc010zfa.1_In_Frame_Del_p.F21del|NFE2L2_uc002uli.3_In_Frame_Del_p.F21del|NFE2L2_uc010fra.2_In_Frame_Del_p.F21del|NFE2L2_uc010frb.2_In_Frame_Del_p.F21del	p.F37del	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	663_665	-			37					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	In_Frame_Del	DEL	ENST00000397062.3	37	c.108_110delATT	CCDS42782.1																																																																																					0.384	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		32	24	32	24	---	---	---	---
ATXN1	6310	broad.mit.edu	37	6	16327913	16327915	+	In_Frame_Del	DEL	TGA	TGA	-	rs11969612|rs369629396	byFrequency	TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr6:16327913_16327915delTGA	ENST00000244769.4	-	8	1563_1565	c.627_629delTCA	c.(625-630)catcag>cag	p.H209del	ATXN1_ENST00000436367.1_In_Frame_Del_p.H209del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	209	Poly-Gln.		H -> Q (in dbSNP:rs11969612).		adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.H209delH(2)|p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ctgctgatgctgatgctgctgct	0.665																																						uc003nbt.2																			3	Deletion - In frame(3)		upper_aerodigestive_tract(1)|large_intestine(1)|prostate(1)	skin(3)|central_nervous_system(1)	4						c.(625-630)CATCAG>CAG		ataxin 1			,|,	615,313,2022|637,2259		169,39,238,43,188,798|112,413,923					,|,		0.0|0.0		dbSNP_130	7|7	1006,693,4879|752,5866		252,19,483,15,644,1876|24,704,2581	no|no	codingComplex,codingComplex|coding,coding	ATXN1|ATXN1	NM_001128164.1,NM_000332.3|NM_001128164.1,NM_000332.3	,|,	421,58,721,58,832,2674|136,1117,3504	A1A1,A1A2,A1R,A2A2,A2R,RR|A1A1,A1R,RR		25.8285,31.4576,27.5714|11.3629,21.9959,14.5995	,|,	,|,		1621,1006,6901|1389,8125				SO:0001651	inframe_deletion	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327913_16327915delTGA	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.627_629delTCA	6.37:g.16327913_16327915delTGA	ENSP00000244769:p.His209del					ATXN1_uc010jpi.2_In_Frame_Del_p.H209del|ATXN1_uc010jpj.1_Intron	p.H209del	NM_000332	NP_000323	P54253	ATX1_HUMAN			8	1598_1600	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	209			Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Del	DEL	ENST00000244769.4	37	c.627_629delTCA	CCDS34342.1																																																																																					0.665	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		4	11	4	11	---	---	---	---
HIST1H2BH	8345	broad.mit.edu	37	6	26252236	26252236	+	Frame_Shift_Del	DEL	A	A	-			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr6:26252236delA	ENST00000356350.2	+	1	358	c.358delA	c.(358-360)accfs	p.T120fs	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	120					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						TAAGGCCGTCACCAAGTACAC	0.537																																						uc003nhh.2																			0				ovary(3)	3						c.(358-360)ACCfs		histone cluster 1, H2bh							59.0	63.0	62.0					6																	26252236		2203	4300	6503	SO:0001589	frameshift_variant	8345				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26252236delA	Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.358delA	6.37:g.26252236delA	ENSP00000348706:p.Thr120fs					HIST1H3F_uc003nhg.1_5'Flank	p.T120fs	NM_003524	NP_003515	Q93079	H2B1H_HUMAN			1	358	+			120					B2R541|Q4VB74	Frame_Shift_Del	DEL	ENST00000356350.2	37	c.358delA	CCDS4601.1																																																																																					0.537	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524		33	37	33	37	---	---	---	---
NR4A3	8013	broad.mit.edu	37	9	102591156	102591156	+	Frame_Shift_Del	DEL	C	C	-			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr9:102591156delC	ENST00000395097.2	+	3	1561	c.832delC	c.(832-834)ccgfs	p.P278fs	NR4A3_ENST00000330847.1_Frame_Shift_Del_p.P289fs|NR4A3_ENST00000338488.4_Frame_Shift_Del_p.P278fs	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	278					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TCCCAGCCTGCCGTCGCCGCC	0.746			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	uc004baf.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	EWSR1/NR4A3(140)|TAF15/NR4A3(33)	0				bone(173)	173						c.(832-834)CCGfs		nuclear receptor subfamily 4, group A, member 3							4.0	4.0	4.0					9																	102591156		1930	3830	5760	SO:0001589	frameshift_variant	8013				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102591156delC	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.832delC	9.37:g.102591156delC	ENSP00000378531:p.Pro278fs					NR4A3_uc004bae.2_Frame_Shift_Del_p.P278fs|NR4A3_uc004bag.1_Frame_Shift_Del_p.P278fs|NR4A3_uc004bai.2_Frame_Shift_Del_p.P289fs	p.P278fs	NM_006981	NP_008912	Q92570	NR4A3_HUMAN			3	1561	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	278					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Frame_Shift_Del	DEL	ENST00000395097.2	37	c.832delC	CCDS6743.1																																																																																					0.746	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			4	3	4	3	---	---	---	---
OR51B2	79345	broad.mit.edu	37	11	5344882	5344882	+	Frame_Shift_Del	DEL	A	A	-			TCGA-22-5482-01A-01D-1632-08	TCGA-22-5482-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b57c316e-1cae-4286-bdbb-8b65c020b3fa	8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec	g.chr11:5344882delA	ENST00000328813.2	-	1	700	c.646delT	c.(646-648)tatfs	p.Y216fs	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTAGAATATAGGAGAAGAGG	0.383																																						uc001mao.1																			0				ovary(2)|skin(1)	3						c.(646-648)TATfs		olfactory receptor, family 51, subfamily B,							60.0	60.0	60.0					11																	5344882		2201	4297	6498	SO:0001589	frameshift_variant	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5344882delA	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.646delT	11.37:g.5344882delA	ENSP00000327540:p.Tyr216fs					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.Y216fs	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	701	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	216			Cytoplasmic (Potential).		Q96RD4	Frame_Shift_Del	DEL	ENST00000328813.2	37	c.646delT	CCDS31377.1																																																																																					0.383	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		15	22	15	22	---	---	---	---
