#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
SRRM1	10250	broad.mit.edu	37	1	24976564	24976564	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:24976564C>G	ENST00000323848.9	+	5	823	c.508C>G	c.(508-510)Cgt>Ggt	p.R170G	SRRM1_ENST00000447431.2_Missense_Mutation_p.R170G|SRRM1_ENST00000374389.4_Missense_Mutation_p.R170G|SRRM1_ENST00000537199.1_Missense_Mutation_p.R69G|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	170	Arg-rich.		R -> H (in dbSNP:rs17857102). {ECO:0000269|PubMed:15489334}.		gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R170G(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GGAGCGGTCTCGTAGCCCAAG	0.363																																					Ovarian(68;897 1494 3282 17478)	uc001bjm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(508-510)CGT>GGT		serine/arginine repetitive matrix 1							69.0	74.0	72.0					1																	24976564		2203	4298	6501	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24976564C>G	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.508C>G	1.37:g.24976564C>G	ENSP00000326261:p.Arg170Gly					SRRM1_uc010oel.1_Missense_Mutation_p.R170G|SRRM1_uc009vrh.1_Missense_Mutation_p.R131G|SRRM1_uc009vri.1_Missense_Mutation_p.R87G|SRRM1_uc010oem.1_RNA	p.R170G	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	5	732	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	170			Arg-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.508C>G	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.716791	0.48622	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389;ENST00000537199	T;T;T;T	0.53423	0.64;0.62;0.63;0.65	5.31	4.33	0.51752	.	0.000000	0.51477	D	0.000087	T	0.53029	0.1771	L	0.47716	1.5	0.58432	D	0.999992	D;P	0.60575	0.988;0.956	P;P	0.54889	0.763;0.504	T	0.53851	-0.8380	10	0.54805	T	0.06	-1.5781	13.1476	0.59472	0.2778:0.7222:0.0:0.0	.	170;170	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	G	170;170;170;69	ENSP00000326261:R170G;ENSP00000391430:R170G;ENSP00000363510:R170G;ENSP00000441776:R69G	ENSP00000326261:R170G	R	+	1	0	SRRM1	24849151	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.945000	0.49043	2.643000	0.89663	0.557000	0.71058	CGT		PASS	0.363	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		3	17	3	17	---	---	---	---
SFPQ	6421	broad.mit.edu	37	1	35657072	35657072	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:35657072C>A	ENST00000357214.5	-	2	985	c.887G>T	c.(886-888)cGa>cTa	p.R296L		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	296					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R296L(1)	SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CAACCGACATCGCTGTGTGTA	0.403			T	TFE3	papillary renal cell																																	uc001bys.2				Dom	yes		1	1p34.3	6421	T	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)			E	TFE3		papillary renal cell	SFPQ/TFE3(6)	1	Substitution - Missense(1)		lung(1)	kidney(4)|soft_tissue(2)|ovary(1)|skin(1)	8						c.(886-888)CGA>CTA		splicing factor proline/glutamine rich							93.0	93.0	93.0					1																	35657072		2203	4300	6503	SO:0001583	missense	6421				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|protein binding|RNA binding	g.chr1:35657072C>A	X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.887G>T	1.37:g.35657072C>A	ENSP00000349748:p.Arg296Leu					SFPQ_uc001byr.2_5'Flank	p.R296L	NM_005066	NP_005057	P23246	SFPQ_HUMAN			2	980	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	296					P30808|Q5SZ71	Missense_Mutation	SNP	ENST00000357214.5	37	c.887G>T	CCDS388.1	.	.	.	.	.	.	.	.	.	.	C	36	5.665228	0.96745	.	.	ENSG00000116560	ENST00000357214	T	0.05580	3.42	5.26	5.26	0.73747	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	L	0.32530	0.975	0.80722	D	1	D	0.63046	0.992	P	0.52267	0.694	T	0.01238	-1.1409	10	0.87932	D	0	-8.5141	18.8922	0.92408	0.0:1.0:0.0:0.0	.	296	P23246	SFPQ_HUMAN	L	296	ENSP00000349748:R296L	ENSP00000349748:R296L	R	-	2	0	SFPQ	35429659	1.000000	0.71417	0.844000	0.33320	0.950000	0.60333	7.770000	0.85390	2.439000	0.82584	0.563000	0.77884	CGA		PASS	0.403	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066		6	99	6	99	---	---	---	---
ZMYM4	9202	broad.mit.edu	37	1	35847261	35847261	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:35847261G>T	ENST00000314607.6	+	9	1551	c.1471G>T	c.(1471-1473)Ggt>Tgt	p.G491C	ZMYM4_ENST00000373297.2_Missense_Mutation_p.G491C	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	491					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G491C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAACTGTGGGGGTTACTGTTA	0.448																																						uc001byt.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1471-1473)GGT>TGT		zinc finger protein 262							210.0	189.0	196.0					1																	35847261		2203	4300	6503	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35847261G>T	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1471G>T	1.37:g.35847261G>T	ENSP00000322915:p.Gly491Cys					ZMYM4_uc009vuu.2_Missense_Mutation_p.G459C|ZMYM4_uc001byu.2_Missense_Mutation_p.G167C|ZMYM4_uc009vuv.2_Missense_Mutation_p.G230C	p.G491C	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN			9	1551	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	491			MYM-type 3.		A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.1471G>T	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.488620|3.488620	0.64074|0.64074	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|T	0.24350|0.27104	1.88;1.86|1.69	5.31|5.31	5.31|5.31	0.75309|0.75309	TRASH (1);Zinc finger, MYM-type (1);|.	0.245932|0.245932	0.40064|0.40064	N|N	0.001184|0.001184	T|T	0.33411|0.33411	0.0862|0.0862	L|L	0.34521|0.34521	1.04|1.04	0.18873|0.18873	N|N	0.999983|0.999983	P|.	0.35192|.	0.489|.	P|.	0.45232|.	0.474|.	T|T	0.18209|0.18209	-1.0344|-1.0344	10|8	0.48119|0.72032	T|D	0.1|0.01	-13.3281|-13.3281	18.9703|18.9703	0.92712|0.92712	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	491|.	Q5VZL5|.	ZMYM4_HUMAN|.	C|V	491|239	ENSP00000322915:G491C;ENSP00000362394:G491C|ENSP00000400506:G239V	ENSP00000322915:G491C|ENSP00000400506:G239V	G|G	+|+	1|2	0|0	ZMYM4|ZMYM4	35619848|35619848	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.287000|3.287000	0.51732|0.51732	2.487000|2.487000	0.83934|0.83934	0.591000|0.591000	0.81541|0.81541	GGT|GGG		PASS	0.448	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		49	117	49	117	---	---	---	---
KIF2C	11004	broad.mit.edu	37	1	45226350	45226350	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:45226350T>G	ENST00000372224.4	+	16	1772	c.1659T>G	c.(1657-1659)atT>atG	p.I553M	KIF2C_ENST00000372218.4_Missense_Mutation_p.I512M|RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372217.1_Missense_Mutation_p.I499M|KIF2C_ENST00000372222.3_Missense_Mutation_p.I440M|RP11-269F19.2_ENST00000428791.1_RNA	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	553	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)	p.I553M(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					ACTCCTTCATTGGGGAGAACT	0.557																																						uc001cmg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1657-1659)ATT>ATG		kinesin family member 2C							149.0	123.0	132.0					1																	45226350		2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45226350T>G	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.1659T>G	1.37:g.45226350T>G	ENSP00000361298:p.Ile553Met					KIF2C_uc010olb.1_Missense_Mutation_p.I512M|KIF2C_uc010olc.1_Missense_Mutation_p.I440M|KIF2C_uc001cmh.3_Missense_Mutation_p.I499M	p.I553M	NM_006845	NP_006836	Q99661	KIF2C_HUMAN			16	1774	+	Acute lymphoblastic leukemia(166;0.155)		553					B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.1659T>G	CCDS512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	10.60|10.60	1.395146|1.395146	0.25205|0.25205	.|.	.|.	ENSG00000142945|ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217|ENST00000423289	T;T;T;T|.	0.74842|.	-0.88;-0.88;-0.88;-0.88|.	5.66|5.66	-11.3|-11.3	0.00108|0.00108	Kinesin, motor domain (4);|.	0.048266|.	0.85682|.	D|.	0.000000|.	T|T	0.50034|0.50034	0.1592|0.1592	L|L	0.49640|0.49640	1.575|1.575	0.36863|0.36863	D|D	0.888505|0.888505	D;D;D|.	0.76494|.	0.999;0.965;0.996|.	D;P;D|.	0.74674|.	0.984;0.805;0.974|.	T|T	0.64228|0.64228	-0.6457|-0.6457	10|5	0.87932|.	D|.	0|.	.|.	10.94|10.94	0.47268|0.47268	0.2025:0.2079:0.0:0.5896|0.2025:0.2079:0.0:0.5896	.|.	512;499;553|.	B7Z6Q6;Q99661-2;Q99661|.	.;.;KIF2C_HUMAN|.	M|W	553;512;440;499|31	ENSP00000361298:I553M;ENSP00000361292:I512M;ENSP00000361296:I440M;ENSP00000361291:I499M|.	ENSP00000361291:I499M|.	I|L	+|+	3|2	3|0	KIF2C|KIF2C	44998937|44998937	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.016000|0.016000	0.09150|0.09150	-2.022000|-2.022000	0.01439|0.01439	-2.872000|-2.872000	0.00322|0.00322	-3.295000|-3.295000	0.00046|0.00046	ATT|TTG		PASS	0.557	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		11	62	11	62	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86307765	86307765	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:86307765G>T	ENST00000370571.2	-	41	3922	c.3556C>A	c.(3556-3558)Cct>Act	p.P1186T	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1186T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1186	Collagen-like 12.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.P1186T(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCTCCTTTAGGTCCTGGCAAT	0.363																																						uc001dlj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3556-3558)CCT>ACT		collagen, type XXIV, alpha 1 precursor							78.0	76.0	76.0					1																	86307765		1810	4071	5881	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86307765G>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3556C>A	1.37:g.86307765G>T	ENSP00000359603:p.Pro1186Thr					COL24A1_uc001dli.2_Missense_Mutation_p.P322T|COL24A1_uc010osd.1_Missense_Mutation_p.P486T|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	p.P1186T	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	41	3598	-			1186			Collagen-like 12.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.3556C>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881652	0.51908	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.95918	-3.85;-3.17	5.33	5.33	0.75918	.	0.000000	0.37857	N	0.001908	D	0.97145	0.9067	M	0.76328	2.33	0.53688	D	0.999975	D;P	0.71674	0.998;0.916	D;P	0.74348	0.983;0.814	D	0.96726	0.9536	10	0.46703	T	0.11	.	17.7999	0.88584	0.0:0.0:1.0:0.0	.	1186;1186	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	T	1186	ENSP00000359603:P1186T;ENSP00000392531:P1186T	ENSP00000359603:P1186T	P	-	1	0	COL24A1	86080353	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.061000	0.71148	2.507000	0.84556	0.591000	0.81541	CCT		PASS	0.363	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		8	74	8	74	---	---	---	---
BRDT	676	broad.mit.edu	37	1	92442847	92442847	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:92442847T>C	ENST00000362005.3	+	7	1284	c.866T>C	c.(865-867)tTt>tCt	p.F289S	BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000370389.2_Missense_Mutation_p.F216S|BRDT_ENST00000402388.1_Missense_Mutation_p.F289S|BRDT_ENST00000399546.2_Missense_Mutation_p.F289S|BRDT_ENST00000394530.3_Missense_Mutation_p.F243S	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	289	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.F289S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAGAAACATTTTTCATATGCA	0.348																																						uc001dok.3																			1	Substitution - Missense(1)		lung(1)	stomach(2)|ovary(1)|lung(1)	4						c.(865-867)TTT>TCT		testis-specific bromodomain protein							75.0	74.0	74.0					1																	92442847		2203	4299	6502	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92442847T>C	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.866T>C	1.37:g.92442847T>C	ENSP00000354568:p.Phe289Ser					BRDT_uc001dol.3_Missense_Mutation_p.F289S|BRDT_uc010osz.1_Missense_Mutation_p.F293S|BRDT_uc009wdf.2_Missense_Mutation_p.F216S|BRDT_uc010ota.1_Missense_Mutation_p.F243S|BRDT_uc010otb.1_Missense_Mutation_p.F243S|BRDT_uc001dom.3_Missense_Mutation_p.F289S	p.F289S	NM_207189	NP_997072	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	6	1215	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	289			Bromo 2.		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.866T>C	CCDS735.1	.	.	.	.	.	.	.	.	.	.	T	9.027	0.986287	0.18889	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.08370	3.42;3.41;3.42;3.47;3.1;3.42	5.88	3.53	0.40419	Bromodomain (5);	0.787428	0.11165	N	0.592583	T	0.00524	0.0017	N	0.00227	-1.8	0.09310	N	1	B;B;B;B	0.17465	0.022;0.022;0.002;0.022	B;B;B;B	0.16722	0.016;0.016;0.001;0.016	T	0.45585	-0.9251	10	0.29301	T	0.29	0.1889	0.6286	0.00790	0.2936:0.1327:0.1525:0.4212	.	243;243;293;289	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	S	289;216;289;289;243;289;289	ENSP00000354568:F289S;ENSP00000359416:F216S;ENSP00000387822:F289S;ENSP00000378038:F243S;ENSP00000404969:F289S;ENSP00000384051:F289S	ENSP00000354568:F289S	F	+	2	0	BRDT	92215435	0.002000	0.14202	0.001000	0.08648	0.875000	0.50365	1.122000	0.31295	0.458000	0.26988	0.533000	0.62120	TTT		PASS	0.348	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		14	72	14	72	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103385884	103385884	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:103385884C>G	ENST00000370096.3	-	49	4057	c.3745G>C	c.(3745-3747)Ggt>Cgt	p.G1249R	COL11A1_ENST00000512756.1_Missense_Mutation_p.G1133R|COL11A1_ENST00000358392.2_Missense_Mutation_p.G1261R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1210R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1249	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1261R(1)|p.G1249R(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAACACCACCAACTGAACCA	0.363																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3745-3747)GGT>CGT		alpha 1 type XI collagen isoform A							168.0	178.0	175.0					1																	103385884		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103385884C>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3745G>C	1.37:g.103385884C>G	ENSP00000359114:p.Gly1249Arg					COL11A1_uc001duk.2_Missense_Mutation_p.G445R|COL11A1_uc001dum.2_Missense_Mutation_p.G1261R|COL11A1_uc001dun.2_Missense_Mutation_p.G1210R|COL11A1_uc009weh.2_Missense_Mutation_p.G1133R	p.G1249R	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	49	4063	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1249			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3745G>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055855	0.76074	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.97209	-4.29;-4.22;-4.29;-4.29	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.98915	0.9632	H	0.97783	4.075	0.80722	D	1	P;P;P;P;P	0.50369	0.693;0.934;0.934;0.891;0.846	P;P;P;P;P	0.54401	0.49;0.751;0.751;0.568;0.598	D	0.99497	1.0952	10	0.87932	D	0	.	19.6279	0.95687	0.0:1.0:0.0:0.0	.	1133;1210;1261;1249;469	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	R	1249;1261;1210;469;1133	ENSP00000359114:G1249R;ENSP00000351163:G1261R;ENSP00000302551:G1210R;ENSP00000426533:G1133R	ENSP00000302551:G1210R	G	-	1	0	COL11A1	103158472	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.094000	0.76944	2.880000	0.98712	0.650000	0.86243	GGT		PASS	0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		16	163	16	163	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103444627	103444627	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:103444627G>C	ENST00000370096.3	-	33	2956	c.2644C>G	c.(2644-2646)Cgt>Ggt	p.R882G	COL11A1_ENST00000512756.1_Missense_Mutation_p.R766G|COL11A1_ENST00000358392.2_Missense_Mutation_p.R894G|COL11A1_ENST00000353414.4_Missense_Mutation_p.R843G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	882	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.R894G(1)|p.R882G(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTTGGACCACGCTGACCCCGA	0.363																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2644-2646)CGT>GGT		alpha 1 type XI collagen isoform A							49.0	53.0	51.0					1																	103444627		2203	4299	6502	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103444627G>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2644C>G	1.37:g.103444627G>C	ENSP00000359114:p.Arg882Gly					COL11A1_uc001duk.2_Missense_Mutation_p.R78G|COL11A1_uc001dum.2_Missense_Mutation_p.R894G|COL11A1_uc001dun.2_Missense_Mutation_p.R843G|COL11A1_uc009weh.2_Missense_Mutation_p.R766G	p.R882G	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	33	2962	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	882			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2644C>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233794	0.58886	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.96073	-3.17;-3.17;-3.17;-3.9	5.25	5.25	0.73442	.	0.118031	0.56097	D	0.000023	D	0.96947	0.9003	M	0.62209	1.925	0.80722	D	1	D;D;D;D;D	0.71674	0.987;0.996;0.998;0.993;0.992	D;D;D;D;D	0.80764	0.953;0.992;0.994;0.982;0.979	D	0.96394	0.9291	10	0.48119	T	0.1	.	19.2059	0.93729	0.0:0.0:1.0:0.0	.	766;843;894;882;102	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	G	882;894;843;102;766	ENSP00000359114:R882G;ENSP00000351163:R894G;ENSP00000302551:R843G;ENSP00000426533:R766G	ENSP00000302551:R843G	R	-	1	0	COL11A1	103217215	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	3.495000	0.53280	2.612000	0.88384	0.655000	0.94253	CGT		PASS	0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		9	46	9	46	---	---	---	---
WDR47	22911	broad.mit.edu	37	1	109538232	109538232	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:109538232A>G	ENST00000369962.3	-	8	1883	c.1661T>C	c.(1660-1662)tTt>tCt	p.F554S	WDR47_ENST00000361054.3_Missense_Mutation_p.F526S|WDR47_ENST00000369965.4_Missense_Mutation_p.F555S|WDR47_ENST00000357672.3_Missense_Mutation_p.F526S|WDR47_ENST00000400794.3_Missense_Mutation_p.F562S			O94967	WDR47_HUMAN	WD repeat domain 47	554					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.F555S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TTCCTCCAGAAAAGGTATGTG	0.378																																						uc001dwj.2																			1	Substitution - Missense(1)	p.P554R(1)	lung(1)	ovary(1)	1						c.(1660-1662)TTT>TCT		WD repeat domain 47 isoform 3							213.0	216.0	215.0					1																	109538232		2203	4296	6499	SO:0001583	missense	22911							g.chr1:109538232A>G	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1661T>C	1.37:g.109538232A>G	ENSP00000358979:p.Phe554Ser					WDR47_uc001dwl.2_Missense_Mutation_p.F562S|WDR47_uc001dwi.2_Missense_Mutation_p.F555S|WDR47_uc001dwk.2_Missense_Mutation_p.F526S|WDR47_uc010ovf.1_Missense_Mutation_p.F481S	p.F554S	NM_001142551	NP_001136023	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	8	2037	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	554					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.1661T>C	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	A	10.73	1.433514	0.25813	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.54675	0.56;0.6;0.56;0.56;0.56	5.51	5.51	0.81932	.	0.155615	0.64402	D	0.000014	T	0.15003	0.0362	N	0.17082	0.46	0.37679	D	0.923404	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.06405	0.002;0.0;0.0;0.002	T	0.07770	-1.0755	10	0.06494	T	0.89	-0.4901	11.0483	0.47872	0.9274:0.0:0.0726:0.0	.	526;562;554;555	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	S	562;554;526;555;526	ENSP00000383599:F562S;ENSP00000358979:F554S;ENSP00000354339:F526S;ENSP00000358982:F555S;ENSP00000350301:F526S	ENSP00000350301:F526S	F	-	2	0	WDR47	109339755	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.143000	0.58051	2.218000	0.71995	0.379000	0.24179	TTT		PASS	0.378	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		25	232	25	232	---	---	---	---
KCNA10	3744	broad.mit.edu	37	1	111060809	111060809	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:111060809G>C	ENST00000369771.2	-	1	988	c.601C>G	c.(601-603)Cag>Gag	p.Q201E		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	201					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.Q201E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	AGCCAGAACTGACGGTGGATG	0.547																																						uc001dzt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(601-603)CAG>GAG		potassium voltage-gated channel, shaker-related							117.0	119.0	118.0					1																	111060809		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060809G>C	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.601C>G	1.37:g.111060809G>C	ENSP00000358786:p.Gln201Glu						p.Q201E	NM_005549	NP_005540	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	989	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	201						Missense_Mutation	SNP	ENST00000369771.2	37	c.601C>G	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209547	0.58343	.	.	ENSG00000143105	ENST00000369771	T	0.72394	-0.65	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.81202	0.4773	M	0.78049	2.395	0.58432	D	0.99999	D	0.58620	0.983	P	0.61658	0.892	T	0.82055	-0.0647	10	0.66056	D	0.02	.	18.895	0.92420	0.0:0.0:1.0:0.0	.	201	Q16322	KCA10_HUMAN	E	201	ENSP00000358786:Q201E	ENSP00000358786:Q201E	Q	-	1	0	KCNA10	110862332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.797000	0.96272	0.655000	0.94253	CAG		PASS	0.547	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		4	79	4	79	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118514563	118514563	+	Silent	SNP	G	G	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:118514563G>C	ENST00000336338.5	-	45	6314	c.6249C>G	c.(6247-6249)gtC>gtG	p.V2083V	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2083						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.V2083V(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTCCAAACTTGACTGATGATG	0.453																																						uc001ehk.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(6247-6249)GTC>GTG		sperm associated antigen 17							162.0	141.0	149.0					1																	118514563		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118514563G>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.6249C>G	1.37:g.118514563G>C							p.V2083V	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	45	6317	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	2083					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.6249C>G	CCDS899.1																																																																																				PASS	0.453	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		13	66	13	66	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145528606	145528606	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:145528606T>C	ENST00000369304.3	+	5	578	c.403T>C	c.(403-405)Tct>Cct	p.S135P	ITGA10_ENST00000538811.1_Intron|ITGA10_ENST00000539363.1_Intron	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	135					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.S135P(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGGCAGCTCTGTCTTCAG	0.592																																						uc001eoa.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(403-405)TCT>CCT		integrin, alpha 10 precursor							121.0	111.0	115.0					1																	145528606		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145528606T>C	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.403T>C	1.37:g.145528606T>C	ENSP00000358310:p.Ser135Pro					NBPF10_uc001emp.3_Intron|ITGA10_uc001enz.1_3'UTR|ITGA10_uc010oyv.1_Intron|ITGA10_uc009wiw.2_Intron|ITGA10_uc010oyw.1_Missense_Mutation_p.S80P	p.S135P	NM_003637	NP_003628	O75578	ITA10_HUMAN			5	479	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		135			FG-GAP 2.|Extracellular (Potential).		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.403T>C	CCDS918.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.294495	0.81025	.	.	ENSG00000143127	ENST00000369304;ENST00000543043	T	0.72725	-0.68	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	T	0.75917	0.3915	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77435	-0.2589	10	0.46703	T	0.11	.	12.6235	0.56616	0.0:0.0:0.0:1.0	.	101;135	F5H3T9;O75578	.;ITA10_HUMAN	P	135;101	ENSP00000358310:S135P	ENSP00000358310:S135P	S	+	1	0	ITGA10	144239963	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.007000	0.76335	1.933000	0.56026	0.459000	0.35465	TCT		PASS	0.592	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		23	82	23	82	---	---	---	---
MTMR11	10903	broad.mit.edu	37	1	149901065	149901065	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:149901065T>C	ENST00000439741.2	-	17	2336	c.2086A>G	c.(2086-2088)Att>Gtt	p.I696V	MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.I624V|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	696							phosphatase activity (GO:0016791)	p.I624V(1)|p.I696V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ATGCCAGCAATTTCAGTGGGA	0.438																																						uc001etl.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(2086-2088)ATT>GTT		myotubularin related protein 11 isoform a							131.0	129.0	130.0					1																	149901065		2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149901065T>C	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.2086A>G	1.37:g.149901065T>C	ENSP00000391668:p.Ile696Val					SF3B4_uc001etj.1_5'Flank|SF3B4_uc001etk.1_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.1_Missense_Mutation_p.I624V	p.I696V	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		17	2337	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		696					B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.2086A>G	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	T	5.161	0.215309	0.09810	.	.	ENSG00000014914	ENST00000369140;ENST00000439741	D;D	0.94613	-3.47;-3.47	4.83	4.83	0.62350	.	2.405320	0.01332	N	0.011262	D	0.83908	0.5356	N	0.19112	0.55	0.80722	D	1	B;B	0.15473	0.013;0.008	B;B	0.13407	0.009;0.004	T	0.58651	-0.7599	10	0.17369	T	0.5	.	10.7431	0.46164	0.0:0.0:0.0:1.0	.	624;696	A4FU01-4;A4FU01	.;MTMRB_HUMAN	V	624;696	ENSP00000358136:I624V;ENSP00000391668:I696V	ENSP00000358136:I624V	I	-	1	0	MTMR11	148167689	0.148000	0.22702	0.542000	0.28115	0.021000	0.10359	1.195000	0.32186	2.030000	0.59900	0.533000	0.62120	ATT		PASS	0.438	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		16	129	16	129	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156532988	156532988	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:156532988C>G	ENST00000361170.2	-	8	746	c.736G>C	c.(736-738)Gcc>Ccc	p.A246P		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	246					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.A246P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGTAGACGGCTGCCAGAGGC	0.572																																						uc001fpf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(736-738)GCC>CCC		IQ motif containing GTPase activating protein 3							98.0	101.0	100.0					1																	156532988		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156532988C>G	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.736G>C	1.37:g.156532988C>G	ENSP00000354451:p.Ala246Pro					IQGAP3_uc009wsb.1_Missense_Mutation_p.A203P	p.A246P	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			8	811	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		246					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.736G>C	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418072	0.25552	.	.	ENSG00000183856	ENST00000361170	T	0.06687	3.27	5.79	2.69	0.31865	.	0.343393	0.30492	N	0.009520	T	0.01092	0.0036	N	0.04508	-0.205	0.24650	N	0.993521	B	0.06786	0.001	B	0.01281	0.0	T	0.48422	-0.9037	10	0.15499	T	0.54	-2.061	11.3033	0.49320	0.1323:0.6121:0.2556:0.0	.	246	Q86VI3	IQGA3_HUMAN	P	246	ENSP00000354451:A246P	ENSP00000354451:A246P	A	-	1	0	IQGAP3	154799612	0.021000	0.18746	0.979000	0.43373	0.958000	0.62258	0.463000	0.21972	0.758000	0.33059	0.655000	0.94253	GCC		PASS	0.572	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		28	167	28	167	---	---	---	---
CD5L	922	broad.mit.edu	37	1	157805906	157805906	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:157805906C>G	ENST00000368174.4	-	3	191	c.95G>C	c.(94-96)cGc>cCc	p.R32P	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	32	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.R32H(3)|p.R32P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCTTCACAGCGGTGGAGGCC	0.622																																						uc001frk.3																			4	Substitution - Missense(4)		urinary_tract(1)|large_intestine(1)|lung(1)|endometrium(1)	ovary(1)	1						c.(94-96)CGC>CCC		CD5 molecule-like precursor							43.0	46.0	45.0					1																	157805906		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157805906C>G	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.95G>C	1.37:g.157805906C>G	ENSP00000357156:p.Arg32Pro						p.R32P	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	238	-	all_hematologic(112;0.0378)		32			SRCR 1.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.95G>C	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309385	0.40895	.	.	ENSG00000073754	ENST00000368174	T	0.34859	1.34	4.85	1.9	0.25705	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.150671	0.31312	N	0.007862	T	0.10723	0.0262	L	0.35854	1.095	0.28365	N	0.920298	P	0.41214	0.742	B	0.40038	0.317	T	0.19844	-1.0293	10	0.23302	T	0.38	.	7.7613	0.28955	0.0:0.709:0.0:0.291	.	32	O43866	CD5L_HUMAN	P	32	ENSP00000357156:R32P	ENSP00000357156:R32P	R	-	2	0	CD5L	156072530	0.000000	0.05858	0.569000	0.28460	0.331000	0.28603	-0.759000	0.04761	0.221000	0.20879	0.563000	0.77884	CGC		PASS	0.622	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		15	57	15	57	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158651438	158651438	+	Missense_Mutation	SNP	C	C	A	rs200716254		TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:158651438C>A	ENST00000368147.4	-	4	590	c.410G>T	c.(409-411)cGc>cTc	p.R137L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	137					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R137L(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCACAGGTGGCGTAGCTCCTC	0.552																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(409-411)CGC>CTC		spectrin, alpha, erythrocytic 1							91.0	92.0	92.0					1																	158651438		1994	4163	6157	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158651438C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.410G>T	1.37:g.158651438C>A	ENSP00000357129:p.Arg137Leu						p.R137L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			4	609	-	all_hematologic(112;0.0378)		137			Spectrin 2.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.410G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844200	0.51164	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50813	0.73;0.73	5.15	-1.47	0.08772	.	.	.	.	.	T	0.13114	0.0318	L	0.40543	1.245	0.09310	N	1	B	0.10296	0.003	B	0.19666	0.026	T	0.34104	-0.9842	9	0.16420	T	0.52	.	5.508	0.16864	0.0:0.2977:0.1547:0.5476	.	137	P02549	SPTA1_HUMAN	L	137	ENSP00000357130:R137L;ENSP00000357129:R137L	ENSP00000357129:R137L	R	-	2	0	SPTA1	156918062	0.082000	0.21442	0.000000	0.03702	0.543000	0.35085	0.717000	0.25851	-0.124000	0.11724	0.563000	0.77884	CGC		PASS	0.552	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		19	68	19	68	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186277571	186277571	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:186277571C>A	ENST00000445192.2	+	7	2765	c.2720C>A	c.(2719-2721)aCt>aAt	p.T907N	PRG4_ENST00000367486.3_Missense_Mutation_p.T864N|PRG4_ENST00000367484.3_Missense_Mutation_p.T436N|PRG4_ENST00000367485.4_Missense_Mutation_p.T814N|PRG4_ENST00000367483.4_Missense_Mutation_p.T866N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	907					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T907N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCTGCAGCGACTAAACCTGAA	0.438																																						uc001gru.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2719-2721)ACT>AAT		proteoglycan 4 isoform A							174.0	177.0	176.0					1																	186277571		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277571C>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2720C>A	1.37:g.186277571C>A	ENSP00000399679:p.Thr907Asn					PRG4_uc001grt.3_Missense_Mutation_p.T866N|PRG4_uc009wyl.2_Missense_Mutation_p.T814N|PRG4_uc009wym.2_Missense_Mutation_p.T773N|PRG4_uc010poo.1_RNA	p.T907N	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	2771	+			907					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.2720C>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	C	4.328	0.060191	0.08339	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.06449	3.45;3.3;3.56;3.45;3.57	2.58	-5.16	0.02857	.	2.316090	0.02936	N	0.139825	T	0.02494	0.0076	N	0.04959	-0.14	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.38866	-0.9641	10	0.17832	T	0.49	1.6779	0.9808	0.01436	0.2616:0.3035:0.2566:0.1783	.	773;814;907;866	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	N	864;436;773;866;814;907	ENSP00000356456:T864N;ENSP00000356454:T436N;ENSP00000356453:T866N;ENSP00000356455:T814N;ENSP00000399679:T907N	ENSP00000356452:T773N	T	+	2	0	PRG4	184544194	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.201000	0.17276	-1.635000	0.01535	-0.714000	0.03626	ACT		PASS	0.438	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		20	162	20	162	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186303582	186303582	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:186303582A>G	ENST00000367478.4	-	36	5353	c.5057T>C	c.(5056-5058)aTg>aCg	p.M1686T		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1686					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.M1686T(1)|p.M1687T(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATTTCCAGCCATAGCTGCAGC	0.483			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(5056-5058)ATG>ACG		nuclear pore complex-associated protein TPR							165.0	167.0	166.0					1																	186303582		1955	4151	6106	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186303582A>G	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5057T>C	1.37:g.186303582A>G	ENSP00000356448:p.Met1686Thr						p.M1686T	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	36	5354	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1686					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.5057T>C	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.334732	0.41297	.	.	ENSG00000047410	ENST00000367478	T	0.21031	2.03	5.41	5.41	0.78517	.	0.137271	0.64402	D	0.000004	T	0.13927	0.0337	N	0.14661	0.345	0.30351	N	0.784795	B	0.06786	0.001	B	0.06405	0.002	T	0.06356	-1.0831	10	0.24483	T	0.36	.	15.7486	0.77967	1.0:0.0:0.0:0.0	.	1686	P12270	TPR_HUMAN	T	1686	ENSP00000356448:M1686T	ENSP00000356448:M1686T	M	-	2	0	TPR	184570205	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.493000	0.60341	2.172000	0.68678	0.460000	0.39030	ATG		PASS	0.483	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		13	178	13	178	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197074167	197074167	+	Missense_Mutation	SNP	C	C	A	rs143092798		TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:197074167C>A	ENST00000367409.4	-	18	4470	c.4214G>T	c.(4213-4215)cGt>cTt	p.R1405L	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1405	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.R1405L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TAAATAAGCACGCCAATGCCT	0.313																																						uc001gtu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(4213-4215)CGT>CTT		asp (abnormal spindle)-like, microcephaly							112.0	106.0	108.0					1																	197074167		2203	4297	6500	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197074167C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4214G>T	1.37:g.197074167C>A	ENSP00000356379:p.Arg1405Leu					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.R1405L	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	4471	-			1405			IQ 2.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.4214G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356127	0.61293	.	.	ENSG00000066279	ENST00000367409	T	0.76578	-1.03	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.87337	0.6152	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88185	0.2873	10	0.72032	D	0.01	.	18.1877	0.89797	0.0:1.0:0.0:0.0	.	1405	Q8IZT6	ASPM_HUMAN	L	1405	ENSP00000356379:R1405L	ENSP00000356379:R1405L	R	-	2	0	ASPM	195340790	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	4.781000	0.62389	2.616000	0.88540	0.650000	0.86243	CGT		PASS	0.313	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		20	72	20	72	---	---	---	---
PLEKHA6	22874	broad.mit.edu	37	1	204226822	204226822	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:204226822C>A	ENST00000272203.3	-	9	1499	c.1183G>T	c.(1183-1185)Gcc>Tcc	p.A395S	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A415S	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	395								p.A395S(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTGCGGAAGGCATGGCGCTTG	0.662																																						uc001hau.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1183-1185)GCC>TCC		phosphoinositol 3-phosphate-binding protein-3							17.0	18.0	17.0					1																	204226822		2203	4298	6501	SO:0001583	missense	22874							g.chr1:204226822C>A	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.1183G>T	1.37:g.204226822C>A	ENSP00000272203:p.Ala395Ser					PLEKHA6_uc009xaw.1_Missense_Mutation_p.A19S|PLEKHA6_uc009xax.1_Missense_Mutation_p.A19S|PLEKHA6_uc009xay.1_Missense_Mutation_p.A19S|PLEKHA6_uc009xaz.1_Missense_Mutation_p.A19S|PLEKHA6_uc009xba.1_Missense_Mutation_p.A19S|PLEKHA6_uc009xbb.1_Missense_Mutation_p.A19S|PLEKHA6_uc009xbc.1_Missense_Mutation_p.A19S	p.A395S	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		9	1500	-	all_cancers(21;0.0222)|Breast(84;0.179)		395					A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.1183G>T	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	2.345	-0.350310	0.05173	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.08458	3.09;3.6	5.67	-1.24	0.09435	.	0.316762	0.35466	N	0.003195	T	0.01421	0.0046	N	0.00436	-1.5	0.22280	N	0.999235	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42932	-0.9422	10	0.02654	T	1	-13.0248	6.0309	0.19679	0.363:0.4756:0.0643:0.0971	.	415;395	Q5VTI5;Q9Y2H5	.;PKHA6_HUMAN	S	395;415	ENSP00000272203:A395S;ENSP00000402046:A415S	ENSP00000272203:A395S	A	-	1	0	PLEKHA6	202493445	0.199000	0.23386	0.510000	0.27712	0.720000	0.41350	0.627000	0.24506	-0.393000	0.07739	-0.181000	0.13052	GCC		PASS	0.662	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		10	25	10	25	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216262426	216262426	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:216262426C>A	ENST00000307340.3	-	23	5200	c.4814G>T	c.(4813-4815)gGa>gTa	p.G1605V	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.G1605V|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1605	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.G1605V(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGCCATTTTCCATCACTATA	0.338										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(4813-4815)GGA>GTA		usherin isoform B							209.0	191.0	197.0					1																	216262426		2203	4299	6502	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216262426C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4814G>T	1.37:g.216262426C>A	ENSP00000305941:p.Gly1605Val	HNSCC(13;0.011)					p.G1605V	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	23	5201	-			1605			Laminin G-like 1.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4814G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362764	0.61403	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;D	0.85556	-2.0;-2.0	5.8	4.89	0.63831	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.318728	0.22611	N	0.057837	D	0.90696	0.7081	M	0.82323	2.585	0.53688	D	0.999971	D	0.69078	0.997	D	0.73380	0.98	D	0.90483	0.4461	10	0.87932	D	0	.	5.5561	0.17117	0.0:0.7387:0.0:0.2613	.	1605	O75445	USH2A_HUMAN	V	1605	ENSP00000305941:G1605V;ENSP00000355910:G1605V	ENSP00000305941:G1605V	G	-	2	0	USH2A	214329049	0.968000	0.33430	0.930000	0.37139	0.505000	0.33919	2.187000	0.42602	2.744000	0.94065	0.655000	0.94253	GGA		PASS	0.338	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		6	130	6	130	---	---	---	---
WDR26	80232	broad.mit.edu	37	1	224577560	224577560	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:224577560C>A	ENST00000414423.2	-	14	2156	c.1963G>T	c.(1963-1965)Gaa>Taa	p.E655*	WDR26_ENST00000295024.6_Nonsense_Mutation_p.E508*|WDR26_ENST00000366852.2_3'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	655						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E508*(1)|p.E655*(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		CTACTGCATTCCTCTGAATGA	0.413																																						uc001hop.3																			2	Substitution - Nonsense(2)		lung(2)		0						c.(1522-1524)GAA>TAA		WD repeat domain 26 isoform a							59.0	61.0	60.0					1																	224577560		2203	4300	6503	SO:0001587	stop_gained	80232					cytoplasm|nucleus		g.chr1:224577560C>A	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1963G>T	1.37:g.224577560C>A	ENSP00000408108:p.Glu655*					WDR26_uc001hoq.3_Nonsense_Mutation_p.E492*|WDR26_uc010pvh.1_Nonsense_Mutation_p.E215*	p.E508*	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	14	1888	-			655					A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Nonsense_Mutation	SNP	ENST00000414423.2	37	c.1522G>T	CCDS31037.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.511778|6.511778	0.97624|0.97624	.|.	.|.	ENSG00000162923|ENSG00000162923	ENST00000414423;ENST00000295024|ENST00000480676	.|.	.|.	.|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.135580|.	0.56097|.	D|.	0.000028|.	.|T	.|0.75019	.|0.3793	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73500	.|-0.3963	.|4	0.59425|.	D|.	0.04|.	.|.	19.1965|19.1965	0.93691|0.93691	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	655;508|288	.|.	ENSP00000295024:E508X|.	E|G	-|-	1|2	0|0	WDR26|WDR26	222644183|222644183	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.439000|5.439000	0.66556|0.66556	2.609000|2.609000	0.88269|0.88269	0.484000|0.484000	0.47621|0.47621	GAA|GGA		PASS	0.413	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		6	92	6	92	---	---	---	---
OR2G3	81469	broad.mit.edu	37	1	247769664	247769664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:247769664C>A	ENST00000320002.2	+	1	809	c.777C>A	c.(775-777)taC>taA	p.Y259*	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y259*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCTACGTGTACCTGCAACCTA	0.458																																						uc010pyz.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(775-777)TAC>TAA		olfactory receptor, family 2, subfamily G,							105.0	99.0	101.0					1																	247769664		2203	4300	6503	SO:0001587	stop_gained	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769664C>A	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.777C>A	1.37:g.247769664C>A	ENSP00000326301:p.Tyr259*						p.Y259*	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	777	+	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)		259			Helical; Name=6; (Potential).		B2RN64|Q5JQT1|Q6IF45	Nonsense_Mutation	SNP	ENST00000320002.2	37	c.777C>A	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109784	0.77096	.	.	ENSG00000177476	ENST00000320002	.	.	.	3.65	1.64	0.23874	.	0.000000	0.33691	U	0.004652	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0929	0.25293	0.0:0.752:0.0:0.248	.	.	.	.	X	259	.	ENSP00000326301:Y259X	Y	+	3	2	OR2G3	245836287	0.000000	0.05858	0.995000	0.50966	0.903000	0.53119	0.048000	0.14078	0.284000	0.22305	0.492000	0.49549	TAC		PASS	0.458	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			17	55	17	55	---	---	---	---
OR2M3	127062	broad.mit.edu	37	1	248367022	248367022	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:248367022A>G	ENST00000456743.1	+	1	691	c.653A>G	c.(652-654)tAt>tGt	p.Y218C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y218C(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTGCTTCCTATGCTCGAGTT	0.423																																						uc010pzg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(652-654)TAT>TGT		olfactory receptor, family 2, subfamily M,							293.0	287.0	289.0					1																	248367022		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367022A>G		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.653A>G	1.37:g.248367022A>G	ENSP00000389625:p.Tyr218Cys						p.Y218C	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	653	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		218			Helical; Name=5; (Potential).		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.653A>G	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	a	12.88	2.069290	0.36470	.	.	ENSG00000228198	ENST00000456743	T	0.00520	6.85	2.54	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29676	U	0.011484	T	0.02047	0.0064	H	0.95043	3.615	0.29897	N	0.824706	P	0.45768	0.866	P	0.56434	0.798	T	0.00480	-1.1714	10	0.72032	D	0.01	.	10.4389	0.44452	1.0:0.0:0.0:0.0	.	218	Q8NG83	OR2M3_HUMAN	C	218	ENSP00000389625:Y218C	ENSP00000389625:Y218C	Y	+	2	0	OR2M3	246433645	1.000000	0.71417	0.010000	0.14722	0.014000	0.08584	4.997000	0.63921	1.164000	0.42652	0.327000	0.21459	TAT		PASS	0.423	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		71	289	71	289	---	---	---	---
OR2T12	127064	broad.mit.edu	37	1	248457927	248457927	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:248457927C>A	ENST00000317996.1	-	1	953	c.954G>T	c.(952-954)agG>agT	p.R318S		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R318S(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATCATCTTGACCTGTGGGCCT	0.413																																						uc010pzj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(952-954)AGG>AGT		olfactory receptor, family 2, subfamily T,							160.0	160.0	160.0					1																	248457927		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248457927C>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.954G>T	1.37:g.248457927C>A	ENSP00000324583:p.Arg318Ser						p.R318S	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	954	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		318			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.954G>T	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	-	1.679	-0.507101	0.04231	.	.	ENSG00000177201	ENST00000317996	T	0.00596	6.32	1.55	-3.09	0.05331	.	.	.	.	.	T	0.00328	0.0010	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39099	-0.9630	9	0.26408	T	0.33	.	3.3375	0.07106	0.2634:0.2886:0.0:0.448	.	318	Q8NG77	O2T12_HUMAN	S	318	ENSP00000324583:R318S	ENSP00000324583:R318S	R	-	3	2	OR2T12	246524550	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.517000	0.02248	-2.041000	0.00915	-1.176000	0.01726	AGG		PASS	0.413	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		39	188	39	188	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525564	248525564	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:248525564G>A	ENST00000366475.1	+	1	682	c.682G>A	c.(682-684)Gag>Aag	p.E228K		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E228K(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCACTCTATGAGATTTTCAT	0.478																																						uc001ieh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(682-684)GAG>AAG		olfactory receptor, family 2, subfamily T,							167.0	162.0	164.0					1																	248525564		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525564G>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.682G>A	1.37:g.248525564G>A	ENSP00000355431:p.Glu228Lys						p.E228K	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	682	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		228			Helical; Name=5; (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.682G>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	8.742	0.919189	0.17982	.	.	ENSG00000196944	ENST00000366475	T	0.00207	8.55	3.61	2.59	0.31030	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000225	T	0.00210	0.0006	L	0.55834	1.745	0.26269	N	0.978457	B	0.28291	0.206	B	0.34385	0.181	T	0.23261	-1.0193	10	0.59425	D	0.04	.	11.8646	0.52486	0.0:0.1782:0.8218:0.0	.	228	Q8NH00	OR2T4_HUMAN	K	228	ENSP00000355431:E228K	ENSP00000355431:E228K	E	+	1	0	OR2T4	246592187	0.000000	0.05858	0.032000	0.17829	0.095000	0.18619	0.559000	0.23485	1.543000	0.49345	0.585000	0.79938	GAG		PASS	0.478	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		30	202	30	202	---	---	---	---
RNF144A	9781	broad.mit.edu	37	2	7137104	7137104	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:7137104C>T	ENST00000320892.6	+	3	489	c.47C>T	c.(46-48)cCg>cTg	p.P16L	RNF144A_ENST00000467276.1_Intron	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	16					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P16L(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		GCCCTCGACCCGCTGGTGTCT	0.567																																						uc002qys.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)	2						c.(46-48)CCG>CTG		ring finger protein 144							112.0	100.0	104.0					2																	7137104		2203	4300	6503	SO:0001583	missense	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7137104C>T	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.47C>T	2.37:g.7137104C>T	ENSP00000321330:p.Pro16Leu					RNF144A_uc002qyt.2_Intron	p.P16L	NM_014746	NP_055561	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	3	489	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	16					D6W4Y6|Q585H5	Missense_Mutation	SNP	ENST00000320892.6	37	c.47C>T	CCDS1657.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.095388|5.095388	0.94197|0.94197	.|.	.|.	ENSG00000151692|ENSG00000151692	ENST00000320892;ENST00000427092;ENST00000416587;ENST00000433456|ENST00000432850	T;T;T|.	0.57752|.	0.38;0.38;0.38|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75700|0.75700	0.3885|0.3885	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.76575|.	0.988|.	T|T	0.72757|0.72757	-0.4197|-0.4197	10|5	0.59425|.	D|.	0.04|.	.|.	20.0247|20.0247	0.97519|0.97519	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	16|.	P50876|.	R144A_HUMAN|.	L|C	16|12	ENSP00000321330:P16L;ENSP00000414420:P16L;ENSP00000402645:P16L|.	ENSP00000321330:P16L|.	P|R	+|+	2|1	0|0	RNF144A|RNF144A	7054555|7054555	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.968000|0.968000	0.65278|0.65278	7.348000|7.348000	0.79366|0.79366	2.804000|2.804000	0.96469|0.96469	0.655000|0.655000	0.94253|0.94253	CCG|CGC		PASS	0.567	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		10	46	10	46	---	---	---	---
ODC1	4953	broad.mit.edu	37	2	10580917	10580917	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:10580917G>T	ENST00000234111.4	-	12	1829	c.1319C>A	c.(1318-1320)tCt>tAt	p.S440Y	ODC1_ENST00000405333.1_Missense_Mutation_p.S440Y	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	440					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)	p.S440Y(1)		NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	CCAGGCACAAGACACAGGCAG	0.502																																						uc010exg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1318-1320)TCT>TAT		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)						112.0	106.0	108.0					2																	10580917		2203	4300	6503	SO:0001583	missense	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10580917G>T		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.1319C>A	2.37:g.10580917G>T	ENSP00000234111:p.Ser440Tyr					ODC1_uc002ran.1_Missense_Mutation_p.S126Y|ODC1_uc002rao.1_Missense_Mutation_p.S440Y|ODC1_uc010yjd.1_Missense_Mutation_p.S310Y	p.S440Y	NM_002539	NP_002530	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	12	1753	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		440					Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	c.1319C>A	CCDS1672.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.236340|4.236340	0.79800|0.79800	.|.	.|.	ENSG00000115758|ENSG00000115758	ENST00000537630|ENST00000234111;ENST00000405333	.|T;T	.|0.49720	.|0.77;0.77	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.317459	.|0.40385	.|N	.|0.001109	T|T	0.50171|0.50171	0.1600|0.1600	M|M	0.61703|0.61703	1.905|1.905	0.53005|0.53005	D|D	0.999965|0.999965	.|P	.|0.39717	.|0.684	.|B	.|0.36186	.|0.219	T|T	0.55952|0.55952	-0.8059|-0.8059	6|10	0.66056|0.87932	D|D	0.02|0	.|.	20.2314|20.2314	0.98350|0.98350	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|440	.|P11926	.|DCOR_HUMAN	I|Y	302|440	.|ENSP00000234111:S440Y;ENSP00000385333:S440Y	ENSP00000444665:L302I|ENSP00000234111:S440Y	L|S	-|-	1|2	0|0	ODC1|ODC1	10498368|10498368	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.765000|0.765000	0.43378|0.43378	5.587000|5.587000	0.67510|0.67510	2.789000|2.789000	0.95967|0.95967	0.591000|0.591000	0.81541|0.81541	CTT|TCT		PASS	0.502	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			9	152	9	152	---	---	---	---
APOB	338	broad.mit.edu	37	2	21235030	21235030	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:21235030T>G	ENST00000233242.1	-	26	4837	c.4710A>C	c.(4708-4710)ttA>ttC	p.L1570F		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1570					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.L1570F(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCAGATTTTAAAGTCAGCT	0.418																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(4708-4710)TTA>TTC		apolipoprotein B precursor	Atorvastatin(DB01076)						98.0	94.0	95.0					2																	21235030		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21235030T>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4710A>C	2.37:g.21235030T>G	ENSP00000233242:p.Leu1570Phe						p.L1570F	NM_000384	NP_000375	P04114	APOB_HUMAN			26	4838	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1570					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.4710A>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.642220	0.47153	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01133	5.29	5.87	4.99	0.66335	.	1.096330	0.07055	N	0.832684	T	0.01661	0.0053	L	0.54323	1.7	0.80722	D	1	P	0.35507	0.506	B	0.26693	0.072	T	0.56444	-0.7978	10	0.51188	T	0.08	.	7.3149	0.26495	0.1361:0.719:0.0:0.1448	.	1570	P04114	APOB_HUMAN	F	1570	ENSP00000233242:L1570F	ENSP00000233242:L1570F	L	-	3	2	APOB	21088535	0.844000	0.29557	0.991000	0.47740	0.693000	0.40251	-0.038000	0.12144	1.462000	0.47948	-0.248000	0.11899	TTA		PASS	0.418	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			5	85	5	85	---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24951338	24951338	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:24951338T>C	ENST00000406961.1	+	16	3531	c.2879T>C	c.(2878-2880)cTt>cCt	p.L960P	NCOA1_ENST00000405141.1_Missense_Mutation_p.L960P|NCOA1_ENST00000348332.3_Missense_Mutation_p.L960P|NCOA1_ENST00000407230.1_Missense_Mutation_p.L809P|NCOA1_ENST00000395856.3_Missense_Mutation_p.L960P|NCOA1_ENST00000538539.1_Missense_Mutation_p.L960P|NCOA1_ENST00000288599.5_Missense_Mutation_p.L960P			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	960	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|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)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.L960P(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTGACAAACTTGTTCAGGTA	0.363			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	2	Substitution - Missense(2)		lung(2)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(2878-2880)CTT>CCT		nuclear receptor coactivator 1 isoform 1							57.0	55.0	56.0					2																	24951338		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24951338T>C	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2879T>C	2.37:g.24951338T>C	ENSP00000385216:p.Leu960Pro					NCOA1_uc010eye.2_Missense_Mutation_p.L960P|NCOA1_uc002rfi.2_Missense_Mutation_p.L809P|NCOA1_uc002rfj.2_Missense_Mutation_p.L960P|NCOA1_uc002rfl.2_Missense_Mutation_p.L960P	p.L960P	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			14	3137	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		960			Interaction with CREBBP.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.2879T>C	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.705019	0.88924	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.05996	3.36;3.37;3.37;3.37;3.36;3.37;3.37	5.75	5.75	0.90469	Nuclear receptor coactivator, interlocking (1);Nuclear receptor coactivator, Ncoa-type, interlocking (1);	0.067411	0.64402	D	0.000009	T	0.17195	0.0413	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.988;0.993;0.988;0.993	T	0.00824	-1.1551	10	0.45353	T	0.12	.	16.0307	0.80574	0.0:0.0:0.0:1.0	.	960;960;960;809	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	P	960;960;809;960;960;960;960	ENSP00000385216:L960P;ENSP00000385097:L960P;ENSP00000385195:L809P;ENSP00000444039:L960P;ENSP00000320940:L960P;ENSP00000288599:L960P;ENSP00000379197:L960P	ENSP00000288599:L960P	L	+	2	0	NCOA1	24804842	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.633000	0.83260	2.333000	0.79357	0.533000	0.62120	CTT		PASS	0.363	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		9	38	9	38	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33505114	33505114	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:33505114G>T	ENST00000404816.2	+	19	3354	c.3001G>T	c.(3001-3003)Gaa>Taa	p.E1001*	LTBP1_ENST00000407925.1_Nonsense_Mutation_p.E675*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.E622*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.E676*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.E1002*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.E622*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.E675*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1001	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.E1002*(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGATATTGATGAATGTTTGAA	0.428																																						uc002ros.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(3004-3006)GAA>TAA		latent transforming growth factor beta binding							140.0	134.0	136.0					2																	33505114		2203	4300	6503	SO:0001587	stop_gained	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33505114G>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3001G>T	2.37:g.33505114G>T	ENSP00000386043:p.Glu1001*					LTBP1_uc002rot.2_Nonsense_Mutation_p.E676*|LTBP1_uc002rou.2_Nonsense_Mutation_p.E675*|LTBP1_uc002rov.2_Nonsense_Mutation_p.E622*|LTBP1_uc010ymz.1_Nonsense_Mutation_p.E675*|LTBP1_uc010yna.1_Nonsense_Mutation_p.E622*	p.E1002*	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			19	3004	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1001			EGF-like 7; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Nonsense_Mutation	SNP	ENST00000404816.2	37	c.3004G>T	CCDS33177.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.338519|10.338519	0.99387|0.99387	.|.	.|.	ENSG00000049323|ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925|ENST00000415140	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75451	.|0.3851	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73461	.|-0.3975	.|4	0.87932|.	D|.	0|.	.|.	19.4728|19.4728	0.94969|0.94969	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	1001;1002;676;675;622;622;675|3	.|.	ENSP00000346467:E1002X|.	E|M	+|+	1|3	0|0	LTBP1|LTBP1	33358618|33358618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.898000|7.898000	0.87363|0.87363	2.608000|2.608000	0.88229|0.88229	0.561000|0.561000	0.74099|0.74099	GAA|ATG		PASS	0.428	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		13	80	13	80	---	---	---	---
STRN	6801	broad.mit.edu	37	2	37096816	37096816	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:37096816T>G	ENST00000263918.4	-	11	1388	c.1380A>C	c.(1378-1380)agA>agC	p.R460S	STRN_ENST00000379213.2_Missense_Mutation_p.R411S|RNU6-577P_ENST00000516947.1_RNA	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	460					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.R460S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CAAAGTGACTTCTCAATGTAA	0.368																																						uc002rpn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1378-1380)AGA>AGC		striatin, calmodulin binding protein							146.0	113.0	124.0					2																	37096816		2203	4300	6503	SO:0001583	missense	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37096816T>G	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1380A>C	2.37:g.37096816T>G	ENSP00000263918:p.Arg460Ser					STRN_uc010ezx.2_Missense_Mutation_p.R423S	p.R460S	NM_003162	NP_003153	O43815	STRN_HUMAN			11	1389	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	460					Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	c.1380A>C	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.994994	0.74703	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.60299	0.2;0.2	5.28	2.81	0.32909	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	L	0.41079	1.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61008	-0.7149	10	0.54805	T	0.06	-17.8684	6.6678	0.23052	0.1361:0.0761:0.0:0.7878	.	411;460	O43815-2;O43815	.;STRN_HUMAN	S	460;435;411	ENSP00000263918:R460S;ENSP00000368513:R411S	ENSP00000263918:R460S	R	-	3	2	STRN	36950320	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.567000	0.23608	0.862000	0.35528	0.477000	0.44152	AGA		PASS	0.368	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			9	52	9	52	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50780062	50780062	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:50780062C>G	ENST00000406316.2	-	9	2898	c.1422G>C	c.(1420-1422)gaG>gaC	p.E474D	NRXN1_ENST00000404971.1_Missense_Mutation_p.E514D|NRXN1_ENST00000405472.3_Missense_Mutation_p.E466D|NRXN1_ENST00000402717.3_Missense_Mutation_p.E466D|NRXN1_ENST00000401669.2_Missense_Mutation_p.E474D|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.E474D	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	474					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.E515E(1)|p.E515D(1)|p.E514D(1)|p.E514E(1)|p.E474E(1)|p.E474D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTGCAACATTCTCACATTTAA	0.383																																						uc010fbq.2																			6	Substitution - Missense(3)|Substitution - coding silent(3)		lung(3)|kidney(3)	ovary(2)	2						c.(1540-1542)GAG>GAC		neurexin 1 isoform alpha2 precursor							140.0	133.0	136.0					2																	50780062		1897	4125	6022	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50780062C>G	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1422G>C	2.37:g.50780062C>G	ENSP00000384311:p.Glu474Asp					NRXN1_uc002rxb.3_Missense_Mutation_p.E146D|NRXN1_uc002rxe.3_Missense_Mutation_p.E474D|NRXN1_uc002rxc.1_RNA	p.E514D	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		9	3019	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1542G>C	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725536	0.68959	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.83	2.84	0.33178	.	0.050219	0.85682	D	0.000000	T	0.81079	0.4748	M	0.80183	2.485	0.31055	N	0.714727	D;D;D	0.89917	0.997;0.973;1.0	D;D;D	0.85130	0.979;0.937;0.997	T	0.77525	-0.2555	10	0.30078	T	0.28	.	8.6076	0.33782	0.0:0.6507:0.0:0.3493	.	514;474;466	Q9ULB1-3;F8WB18;A7E294	.;.;.	D	514;474;466;474;515;466;474	ENSP00000385142:E514D;ENSP00000384311:E474D;ENSP00000434015:E466D;ENSP00000385017:E474D;ENSP00000385434:E466D;ENSP00000385681:E474D	ENSP00000385017:E474D	E	-	3	2	NRXN1	50633566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.043000	0.30316	0.262000	0.21774	0.650000	0.86243	GAG		PASS	0.383	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			8	137	8	137	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50850672	50850672	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:50850672C>A	ENST00000406316.2	-	6	2390	c.914G>T	c.(913-915)aGt>aTt	p.S305I	NRXN1_ENST00000404971.1_Missense_Mutation_p.S338I|NRXN1_ENST00000405472.3_Missense_Mutation_p.S305I|NRXN1_ENST00000402717.3_Missense_Mutation_p.S305I|NRXN1_ENST00000401669.2_Missense_Mutation_p.S305I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.S305I	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	305	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.S305I(1)|p.S338I(1)|p.S339I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TATTTCATCACTGCTGCTTTG	0.398																																						uc010fbq.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(1012-1014)AGT>ATT		neurexin 1 isoform alpha2 precursor							147.0	137.0	140.0					2																	50850672		1869	4099	5968	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50850672C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.914G>T	2.37:g.50850672C>A	ENSP00000384311:p.Ser305Ile					NRXN1_uc002rxb.3_5'UTR|NRXN1_uc002rxe.3_Missense_Mutation_p.S305I|NRXN1_uc002rxc.1_RNA	p.S338I	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	2490	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1013G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333051	0.81801	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.26;-1.29;-1.26;-1.29	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.82903	0.5138	L	0.27053	0.805	0.51767	D	0.999933	D;P	0.64830	0.994;0.927	P;P	0.62382	0.901;0.718	T	0.82024	-0.0662	10	0.38643	T	0.18	.	19.2231	0.93806	0.0:1.0:0.0:0.0	.	338;305	Q9ULB1-3;F8WB18	.;.	I	338;305;305;305;339;305;305	ENSP00000385142:S338I;ENSP00000384311:S305I;ENSP00000434015:S305I;ENSP00000385017:S305I;ENSP00000385434:S305I;ENSP00000385681:S305I	ENSP00000385017:S305I	S	-	2	0	NRXN1	50704176	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.651000	0.83577	2.776000	0.95493	0.650000	0.86243	AGT		PASS	0.398	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			29	114	29	114	---	---	---	---
ZNF638	27332	broad.mit.edu	37	2	71590297	71590297	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:71590297A>G	ENST00000409544.1	+	4	2024	c.1394A>G	c.(1393-1395)aAt>aGt	p.N465S	ZNF638_ENST00000377802.2_Missense_Mutation_p.N465S|ZNF638_ENST00000355812.3_Missense_Mutation_p.N465S|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.N465S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	465					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.N465S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CCTGATTGGAATCCTGAGATC	0.269																																						uc002shx.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(1393-1395)AAT>AGT		zinc finger protein 638							59.0	59.0	59.0					2																	71590297		2201	4285	6486	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71590297A>G	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1394A>G	2.37:g.71590297A>G	ENSP00000386433:p.Asn465Ser					ZNF638_uc010fec.2_Missense_Mutation_p.N571S|ZNF638_uc010yqw.1_Missense_Mutation_p.N44S|ZNF638_uc002shw.2_Missense_Mutation_p.N465S|ZNF638_uc002shy.2_Missense_Mutation_p.N465S|ZNF638_uc002shz.2_Missense_Mutation_p.N465S|ZNF638_uc002sia.2_Missense_Mutation_p.N465S|ZNF638_uc002sib.1_Missense_Mutation_p.N465S|ZNF638_uc010fed.2_5'Flank	p.N465S	NM_014497	NP_055312	Q14966	ZN638_HUMAN			4	1713	+			465					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.1394A>G	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.779266	0.49891	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000394137;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.76060	-0.4;-0.99;0.14;-0.4;1.11;1.11	5.33	5.33	0.75918	.	0.216156	0.49305	D	0.000141	T	0.77322	0.4113	L	0.27053	0.805	0.40914	D	0.98425	D;D;D;D;D;D	0.71674	0.997;0.99;0.99;0.998;0.997;0.99	D;D;D;D;D;D	0.76071	0.97;0.979;0.979;0.987;0.97;0.979	T	0.79667	-0.1708	10	0.56958	D	0.05	-22.7326	11.9736	0.53078	1.0:0.0:0.0:0.0	.	465;571;465;465;465;465	A8K583;F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;.;ZN638_HUMAN;.	S	465;571;44;465;465;465;465	ENSP00000386669:N465S;ENSP00000438189:N571S;ENSP00000348066:N465S;ENSP00000367033:N465S;ENSP00000264447:N465S;ENSP00000386433:N465S	ENSP00000264447:N465S	N	+	2	0	ZNF638	71443805	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.983000	0.63832	2.156000	0.67533	0.528000	0.53228	AAT		PASS	0.269	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		8	40	8	40	---	---	---	---
FBXO41	150726	broad.mit.edu	37	2	73498004	73498004	+	Intron	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:73498004G>A	ENST00000521871.1	-	2	278				FBXO41_ENST00000520186.1_5'Flank|FBXO41_ENST00000520530.2_Intron|FBXO41_ENST00000295133.5_Missense_Mutation_p.L14F			Q8TF61	FBX41_HUMAN	F-box protein 41											breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						CTGTGATCAAGGTCACAGACC	0.532																																						uc002sjb.1																			0				breast(2)|pancreas(1)	3						c.(40-42)CTT>TTT		F-box protein 41							124.0	126.0	125.0					2																	73498004		2038	4186	6224	SO:0001627	intron_variant	150726					intracellular	protein binding|zinc ion binding	g.chr2:73498004G>A	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.138-1108C>T	2.37:g.73498004G>A							p.L14F	NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN			1	40	-			Error:Variant_position_missing_in_Q8TF61_after_alignment					G3V0Z7|Q2M1V8	Missense_Mutation	SNP	ENST00000521871.1	37	c.40C>T	CCDS46337.2	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037040	0.35893	.	.	ENSG00000163013	ENST00000295133;ENST00000520530	.	.	.	4.76	-2.09	0.07232	.	.	.	.	.	T	0.36413	0.0966	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41980	-0.9478	5	0.87932	D	0	.	4.5875	0.12289	0.5048:0.0:0.3396:0.1556	.	.	.	.	F	14	.	ENSP00000295133:L14F	L	-	1	0	FBXO41	73351512	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.011000	0.12721	-0.531000	0.06340	0.585000	0.79938	CTT		PASS	0.532	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			16	121	16	121	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77746093	77746093	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:77746093A>G	ENST00000409093.1	-	3	1238	c.902T>C	c.(901-903)aTa>aCa	p.I301T	LRRTM4_ENST00000409282.1_Missense_Mutation_p.I302T|LRRTM4_ENST00000409884.1_Missense_Mutation_p.I301T|LRRTM4_ENST00000409911.1_Missense_Mutation_p.I302T|LRRTM4_ENST00000409088.3_Missense_Mutation_p.I301T			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	301					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.I301T(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TATTAATGATATCCACGCATT	0.368																																						uc002snr.2																			2	Substitution - Missense(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(901-903)ATA>ACA		leucine rich repeat transmembrane neuronal 4							46.0	42.0	43.0					2																	77746093		1856	4111	5967	SO:0001583	missense	80059					integral to membrane		g.chr2:77746093A>G	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.902T>C	2.37:g.77746093A>G	ENSP00000386357:p.Ile301Thr					LRRTM4_uc002snq.2_Missense_Mutation_p.I301T|LRRTM4_uc002sns.2_Missense_Mutation_p.I301T|LRRTM4_uc002snt.2_Missense_Mutation_p.I302T	p.I301T	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1317	-			301			Extracellular (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.902T>C	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	A	9.222	1.033696	0.19590	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.03951	3.75;3.75;3.75;3.75;3.75	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.02767	0.0083	N	0.01809	-0.71	0.58432	D	0.999999	B;B;B	0.25048	0.117;0.095;0.117	B;B;B	0.33454	0.096;0.058;0.164	T	0.58183	-0.7681	10	0.13853	T	0.58	.	15.0295	0.71696	1.0:0.0:0.0:0.0	.	302;301;301	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	T	302;301;301;301;302	ENSP00000387228:I302T;ENSP00000387297:I301T;ENSP00000386357:I301T;ENSP00000386236:I301T;ENSP00000386286:I302T	ENSP00000386236:I301T	I	-	2	0	LRRTM4	77599601	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.327000	0.79147	2.220000	0.72140	0.533000	0.62120	ATA		PASS	0.368	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		6	29	6	29	---	---	---	---
REG3A	5068	broad.mit.edu	37	2	79386511	79386511	+	Silent	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:79386511C>A	ENST00000409839.3	-	2	57	c.21G>T	c.(19-21)ctG>ctT	p.L7L	REG3A_ENST00000305165.2_Silent_p.L7L|REG3A_ENST00000393878.1_Silent_p.L7L|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	7					acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.L7L(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ATACACTGGGCAGGGCCATGG	0.532																																						uc002sod.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(19-21)CTG>CTT		pancreatitis-associated protein precursor							179.0	130.0	147.0					2																	79386511		2203	4300	6503	SO:0001819	synonymous_variant	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79386511C>A	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.21G>T	2.37:g.79386511C>A						REG3A_uc002soe.1_Silent_p.L7L|REG3A_uc002sof.1_Silent_p.L7L	p.L7L	NM_138938	NP_620355	Q06141	REG3A_HUMAN			1	276	-			7						Silent	SNP	ENST00000409839.3	37	c.21G>T	CCDS1965.1																																																																																				PASS	0.532	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		8	60	8	60	---	---	---	---
IGKV1-12	28940	broad.mit.edu	37	2	89339924	89339924	+	RNA	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:89339924C>A	ENST00000480492.1	-	0	194									immunoglobulin kappa variable 1-12																		CTGCTAATACCCTGACTCGCC	0.522																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							92.0	72.0	78.0					2																	89339924		1762	3765	5527			0							g.chr2:89339924C>A	V01577		2p11.2	2012-02-10			ENSG00000243290	ENSG00000243290		"""Immunoglobulins / IGK locus"""	5730	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV112, L19	uc011agg.1		OTTHUMG00000151643		2.37:g.89339924C>A						uc002stl.2_Intron								64		-									RNA	SNP	ENST00000480492.1	37	c.5935G>T																																																																																					PASS	0.522	IGKV1-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323392.1	NG_000834		38	114	38	114	---	---	---	---
IGKV6-21	28906	broad.mit.edu	37	2	89459297	89459297	+	RNA	SNP	T	T	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:89459297T>C	ENST00000390256.2	-	0	343									immunoglobulin kappa variable 6-21 (non-functional)																		AGGCTATTGATGGTGAGGGTG	0.483																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							128.0	128.0	128.0					2																	89459297		1916	4131	6047			0							g.chr2:89459297T>C	X63399		2p11.2	2012-02-10	2008-09-10		ENSG00000211611	ENSG00000211611		"""Immunoglobulins / IGK locus"""	5836	other	immunoglobulin gene			"""immunoglobulin kappa variable 6-21"""				Standard	NG_000834		Approved	IGKV621, A26			OTTHUMG00000151654		2.37:g.89459297T>C						uc002stl.2_Intron								29		-									RNA	SNP	ENST00000390256.2	37	c.3897A>G																																																																																					PASS	0.483	IGKV6-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323403.1	NG_000834		40	215	40	215	---	---	---	---
IGKV1-27	28935	broad.mit.edu	37	2	89513000	89513000	+	RNA	SNP	T	T	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:89513000T>A	ENST00000498435.1	-	0	289									immunoglobulin kappa variable 1-27																		CCAGATCCACTGCCACTGAAC	0.483																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							115.0	107.0	109.0					2																	89513000		1886	4113	5999			0							g.chr2:89513000T>A	X63398		2p11.2	2012-02-10			ENSG00000244575	ENSG00000244575		"""Immunoglobulins / IGK locus"""	5735	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV127, A20			OTTHUMG00000151640		2.37:g.89513000T>A						uc002stl.2_Intron								23		-									RNA	SNP	ENST00000498435.1	37	c.2888A>T																																																																																					PASS	0.483	IGKV1-27-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323389.1	NG_000834		32	154	32	154	---	---	---	---
EPC2	26122	broad.mit.edu	37	2	149519363	149519363	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:149519363G>C	ENST00000258484.6	+	5	713	c.679G>C	c.(679-681)Gat>Cat	p.D227H		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	227					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)		p.D227H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TCGTAAGAATGATGAAGCCTC	0.294																																						uc010zbt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(679-681)GAT>CAT		enhancer of polycomb homolog 2							40.0	35.0	36.0					2																	149519363		1792	4055	5847	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149519363G>C	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.679G>C	2.37:g.149519363G>C	ENSP00000258484:p.Asp227His						p.D227H	NM_015630	NP_056445	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	5	706	+			227					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.679G>C	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056963	0.93846	.	.	ENSG00000135999	ENST00000258484;ENST00000397424	.	.	.	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.87462	0.6183	M	0.93854	3.465	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.89418	0.3708	9	0.87932	D	0	-5.2848	20.5182	0.99214	0.0:0.0:1.0:0.0	.	227	Q52LR7	EPC2_HUMAN	H	227;156	.	ENSP00000258484:D227H	D	+	1	0	EPC2	149235833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.860000	0.98153	0.655000	0.94253	GAT		PASS	0.294	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		4	12	4	12	---	---	---	---
GPD2	2820	broad.mit.edu	37	2	157425449	157425449	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:157425449G>C	ENST00000310454.6	+	10	1650	c.1278G>C	c.(1276-1278)gaG>gaC	p.E426D	GPD2_ENST00000409674.1_Missense_Mutation_p.E426D|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000438166.2_Missense_Mutation_p.E426D|GPD2_ENST00000409125.4_Missense_Mutation_p.E199D	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	426					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)	p.E426D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						ATATCAGTGAGAGTGGCCTTA	0.408																																						uc002tzf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1276-1278)GAG>GAC		glycerol-3-phosphate dehydrogenase 2,							243.0	223.0	230.0					2																	157425449		2203	4300	6503	SO:0001583	missense	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157425449G>C		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1278G>C	2.37:g.157425449G>C	ENSP00000308610:p.Glu426Asp					GPD2_uc010zch.1_Missense_Mutation_p.E199D|GPD2_uc002tzd.3_Missense_Mutation_p.E426D|GPD2_uc002tze.1_RNA	p.E426D	NM_001083112	NP_001076581	P43304	GPDM_HUMAN			10	1638	+			426					A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	c.1278G>C	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	G	4.194	0.034693	0.08101	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	5.68	1.63	0.23807	FAD dependent oxidoreductase (1);	0.405885	0.30630	N	0.009202	T	0.45756	0.1358	N	0.00504	-1.425	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53401	-0.8444	10	0.02654	T	1	.	13.6293	0.62186	0.0678:0.5349:0.3973:0.0	.	426	P43304	GPDM_HUMAN	D	426;199;426;426	ENSP00000308610:E426D;ENSP00000386484:E199D;ENSP00000409708:E426D;ENSP00000386425:E426D	ENSP00000308610:E426D	E	+	3	2	GPD2	157133695	0.795000	0.28851	1.000000	0.80357	0.987000	0.75469	-0.105000	0.10907	0.285000	0.22329	0.585000	0.79938	GAG		PASS	0.408	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			12	227	12	227	---	---	---	---
GALNT5	11227	broad.mit.edu	37	2	158157214	158157214	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:158157214G>C	ENST00000259056.4	+	7	2627	c.2142G>C	c.(2140-2142)gaG>gaC	p.E714D	RN7SKP281_ENST00000410472.1_RNA	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	714	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E714D(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GTGAAATTGAGATCATTCCCT	0.438																																						uc002tzg.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(1)	4						c.(2140-2142)GAG>GAC		N-acetylgalactosaminyltransferase 5							149.0	147.0	148.0					2																	158157214		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158157214G>C	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2142G>C	2.37:g.158157214G>C	ENSP00000259056:p.Glu714Asp					GALNT5_uc010zci.1_RNA	p.E714D	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			7	2397	+			714			Catalytic subdomain B.|Lumenal (Potential).		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.2142G>C	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719364	0.68844	.	.	ENSG00000136542	ENST00000259056	T	0.66815	-0.23	5.39	2.18	0.27775	.	0.055512	0.64402	D	0.000001	T	0.72439	0.3460	M	0.90019	3.08	0.42735	D	0.993723	P	0.48503	0.911	P	0.45406	0.479	T	0.76260	-0.3024	10	0.72032	D	0.01	.	9.3725	0.38264	0.3521:0.0:0.6479:0.0	.	714	Q7Z7M9	GALT5_HUMAN	D	714	ENSP00000259056:E714D	ENSP00000259056:E714D	E	+	3	2	GALNT5	157865460	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	1.614000	0.36911	0.649000	0.30751	0.563000	0.77884	GAG		PASS	0.438	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		7	140	7	140	---	---	---	---
ACVR1C	130399	broad.mit.edu	37	2	158406771	158406771	+	Silent	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:158406771G>A	ENST00000243349.8	-	4	1038	c.678C>T	c.(676-678)tcC>tcT	p.S226S	ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000409680.3_Silent_p.S176S|ACVR1C_ENST00000335450.7_Silent_p.S146S	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC									p.S226S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TTTCATCTCTGGAGGAGAATA	0.448																																						uc002tzk.3																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|skin(2)	7						c.(676-678)TCC>TCT		activin A receptor, type IC isoform 1							168.0	168.0	168.0					2																	158406771		2203	4300	6503	SO:0001819	synonymous_variant	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158406771G>A	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.678C>T	2.37:g.158406771G>A						ACVR1C_uc002tzl.3_Silent_p.S146S|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Silent_p.S176S	p.S226S	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN			4	921	-			226			Protein kinase.|Cytoplasmic (Potential).			Silent	SNP	ENST00000243349.8	37	c.678C>T	CCDS2205.1																																																																																				PASS	0.448	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		21	129	21	129	---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	166032861	166032861	+	Missense_Mutation	SNP	C	C	T	rs139769668	byFrequency	TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:166032861C>T	ENST00000360093.3	-	3	535	c.44G>A	c.(43-45)cGc>cAc	p.R15H	SCN3A_ENST00000409101.3_Missense_Mutation_p.R15H|SCN3A_ENST00000283254.7_Missense_Mutation_p.R15H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	15					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R15H(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGTAAAAAGGCGGAAGCTTTC	0.428													C|||	3	0.000599042	0.0023	0.0	5008	,	,		16749	0.0		0.0	False		,,,				2504	0.0					uc002ucx.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(43-45)CGC>CAC		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)	C	HIS/ARG,HIS/ARG,HIS/ARG	13,4393	20.2+/-43.8	0,13,2190	123.0	122.0	123.0		44,44,44	4.4	1.0	2	dbSNP_134	123	0,8600		0,0,4300	yes	missense,missense,missense	SCN3A	NM_001081676.1,NM_001081677.1,NM_006922.3	29,29,29	0,13,6490	TT,TC,CC		0.0,0.2951,0.1	possibly-damaging,possibly-damaging,possibly-damaging	15/1952,15/1952,15/2001	166032861	13,12993	2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166032861C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.44G>A	2.37:g.166032861C>T	ENSP00000353206:p.Arg15His					SCN3A_uc002ucy.2_Missense_Mutation_p.R15H|SCN3A_uc002ucz.2_Missense_Mutation_p.R15H	p.R15H	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			3	536	-			15					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.44G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.48	3.834711	0.71373	0.002951	0.0	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431;ENST00000453007	D;D;D;D;T	0.96885	-4.16;-4.16;-4.11;-3.97;7.99	5.32	4.45	0.53987	.	0.198976	0.36167	N	0.002753	D	0.95915	0.8670	M	0.86268	2.805	0.80722	D	1	B;B;B	0.18166	0.026;0.026;0.012	B;B;B	0.14023	0.01;0.01;0.008	D	0.94397	0.7619	10	0.54805	T	0.06	.	14.1898	0.65630	0.0:0.9275:0.0:0.0725	.	15;15;15	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	H	15	ENSP00000353206:R15H;ENSP00000283254:R15H;ENSP00000386726:R15H;ENSP00000403348:R15H;ENSP00000391569:R15H	ENSP00000283254:R15H	R	-	2	0	SCN3A	165741107	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	0.726000	0.25984	1.390000	0.46547	0.467000	0.42956	CGC		PASS	0.428	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		33	85	33	85	---	---	---	---
RAPGEF4	11069	broad.mit.edu	37	2	173916488	173916488	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:173916488G>A	ENST00000397081.3	+	31	3172	c.3029G>A	c.(3028-3030)cGa>cAa	p.R1010Q	RAPGEF4_ENST00000397087.3_Missense_Mutation_p.R866Q|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.R790Q|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.R857Q|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.R839Q|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.R857Q|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.R942Q|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.R1009Q	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	1010					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R1010Q(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GAGCCTCGTCGACCATAGACA	0.403																																						uc002uhv.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(3028-3030)CGA>CAA		Rap guanine nucleotide exchange factor (GEF) 4							98.0	87.0	90.0					2																	173916488		1909	4133	6042	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173916488G>A	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.3029G>A	2.37:g.173916488G>A	ENSP00000380271:p.Arg1010Gln					RAPGEF4_uc002uhw.3_Missense_Mutation_p.R866Q	p.R1010Q	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		31	3216	+			1010					B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.3029G>A	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957258	0.92726	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187	T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	6.06	6.06	0.98353	Guanine-nucleotide dissociation stimulator CDC25 (1);	0.000000	0.85682	D	0.000000	T	0.54663	0.1872	M	0.78801	2.425	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.56278	0.795;0.741	T	0.53556	-0.8422	10	0.54805	T	0.06	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	866;1010	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	Q	1009;1010;942;866;839;857;857;790	ENSP00000264111:R1009Q;ENSP00000380271:R1010Q;ENSP00000387104:R942Q;ENSP00000380276:R866Q;ENSP00000440135:R839Q;ENSP00000440250:R857Q;ENSP00000437384:R857Q;ENSP00000438011:R790Q	ENSP00000264111:R1009Q	R	+	2	0	RAPGEF4	173624734	1.000000	0.71417	0.983000	0.44433	0.980000	0.70556	5.763000	0.68818	2.882000	0.98803	0.655000	0.94253	CGA		PASS	0.403	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		3	63	3	63	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098944	178098944	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:178098944C>G	ENST00000397062.3	-	2	655	c.101G>C	c.(100-102)cGa>cCa	p.R34P	NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18P|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18P|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18P|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18P	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					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.R34Q(10)|p.R34P(2)		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)			AAATACTTCTCGACTTACTCC	0.373			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		12	Substitution - Missense(12)		lung(12)	central_nervous_system(1)	1						c.(100-102)CGA>CCA		nuclear factor erythroid 2-like 2 isoform 1							77.0	70.0	72.0					2																	178098944		1847	4100	5947	SO:0001583	missense	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.chr2:178098944C>G		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.101G>C	2.37:g.178098944C>G	ENSP00000380252:p.Arg34Pro	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.R18P|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18P|NFE2L2_uc002uli.3_Missense_Mutation_p.R18P|NFE2L2_uc010fra.2_Missense_Mutation_p.R18P|NFE2L2_uc010frb.2_Missense_Mutation_p.R18P	p.R34P	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	656	-			34					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.101G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176331	0.78564	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.999	T	0.59096	-0.7518	10	0.44086	T	0.13	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	18;18;18;34	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	P	18;34;18;18;18;18;18	ENSP00000380253:R18P;ENSP00000380252:R34P;ENSP00000411575:R18P;ENSP00000391590:R18P;ENSP00000400073:R18P;ENSP00000412191:R18P;ENSP00000410015:R18P	ENSP00000380252:R34P	R	-	2	0	NFE2L2	177807190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	CGA		PASS	0.373	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		17	47	17	47	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179442158	179442158	+	Silent	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:179442158G>T	ENST00000591111.1	-	274	64205	c.63981C>A	c.(63979-63981)gcC>gcA	p.A21327A	RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342992.6_Silent_p.A20400A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.A14095A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.A22968A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.A14028A|TTN_ENST00000460472.2_Silent_p.A13903A|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21327	Ig-like 113.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A13903A(1)|p.A14028A(1)|p.A20400A(1)|p.A14095A(1)|p.A20398A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATGCTAATGGCATTCAAAA	0.393																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(61198-61200)GCC>GCA		titin isoform N2-A							95.0	82.0	86.0					2																	179442158		1871	4104	5975	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179442158G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63981C>A	2.37:g.179442158G>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A14095A|TTN_uc010zfi.1_Silent_p.A14028A|TTN_uc010zfj.1_Silent_p.A13903A|uc002umv.1_5'Flank	p.A20400A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		273	61424	-			21327					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.61200C>A																																																																																					PASS	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	48	16	48	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179477625	179477625	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:179477625G>T	ENST00000591111.1	-	215	45124	c.44900C>A	c.(44899-44901)aCt>aAt	p.T14967N	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T14040N|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T7735N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T16608N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T7668N|TTN_ENST00000460472.2_Missense_Mutation_p.T7543N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14967	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T14040N(2)|p.T7543N(1)|p.T7735N(1)|p.T7668N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGTGCTGAGTGGTGGGAAC	0.507																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(42118-42120)ACT>AAT		titin isoform N2-A							64.0	62.0	63.0					2																	179477625		1962	4158	6120	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179477625G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44900C>A	2.37:g.179477625G>T	ENSP00000465570:p.Thr14967Asn					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T7735N|TTN_uc010zfi.1_Missense_Mutation_p.T7668N|TTN_uc010zfj.1_Missense_Mutation_p.T7543N	p.T14040N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		214	42343	-			14967					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.42119C>A		.	.	.	.	.	.	.	.	.	.	G	11.47	1.647396	0.29246	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65974	0.2743	L	0.58583	1.82	0.44275	D	0.99713	D;D;D;D	0.54397	0.966;0.966;0.966;0.966	P;P;P;P	0.55303	0.773;0.773;0.773;0.773	T	0.68296	-0.5446	9	0.87932	D	0	.	19.6104	0.95604	0.0:0.0:1.0:0.0	.	7543;7668;7735;14967	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	14040;7543;7735;7668;7543	ENSP00000343764:T14040N;ENSP00000434586:T7543N;ENSP00000340554:T7735N;ENSP00000352154:T7668N	ENSP00000340554:T7735N	T	-	2	0	TTN	179185870	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	5.381000	0.66208	2.636000	0.89361	0.557000	0.71058	ACT		PASS	0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	41	19	41	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179595911	179595911	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:179595911C>G	ENST00000591111.1	-	58	16754	c.16530G>C	c.(16528-16530)gaG>gaC	p.E5510D	TTN_ENST00000342992.6_Missense_Mutation_p.E4583D|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E5827D|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12337	Ig-like 36.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E4583D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACAGCTTCCTCGGTGATTG	0.448																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13747-13749)GAG>GAC		titin isoform N2-A							194.0	185.0	188.0					2																	179595911		1874	4122	5996	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179595911C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16530G>C	2.37:g.179595911C>G	ENSP00000465570:p.Glu5510Asp					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1244D	p.E4583D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		57	13973	-			5510					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13749G>C		.	.	.	.	.	.	.	.	.	.	C	5.842	0.339483	0.11069	.	.	ENSG00000155657	ENST00000342992	T	0.67698	-0.28	5.96	0.428	0.16499	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41971	0.1182	N	0.16233	0.39	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34527	-0.9825	9	0.87932	D	0	.	0.2736	0.00235	0.3391:0.1989:0.144:0.3179	.	5510	Q8WZ42	TITIN_HUMAN	D	4583	ENSP00000343764:E4583D	ENSP00000343764:E4583D	E	-	3	2	TTN	179304156	0.229000	0.23729	0.989000	0.46669	0.710000	0.40934	-0.369000	0.07533	0.103000	0.17682	0.655000	0.94253	GAG		PASS	0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		79	247	79	247	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185801788	185801788	+	Silent	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:185801788C>A	ENST00000302277.6	+	4	2259	c.1665C>A	c.(1663-1665)atC>atA	p.I555I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	555							metal ion binding (GO:0046872)	p.I555I(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCTGTAAGATCAGAGAAACAG	0.328																																						uc002uph.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1663-1665)ATC>ATA		zinc finger protein 804A							34.0	38.0	37.0					2																	185801788		2166	4286	6452	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185801788C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1665C>A	2.37:g.185801788C>A							p.I555I	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	2259	+			555					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.1665C>A	CCDS2291.1																																																																																				PASS	0.328	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		15	44	15	44	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187532403	187532403	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:187532403C>G	ENST00000261023.3	+	24	2607	c.2333C>G	c.(2332-2334)tCg>tGg	p.S778W	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.S742W|ITGAV_ENST00000433736.2_Missense_Mutation_p.S732W	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	778					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.S778W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TTTAGAGTCTCGAGTCCTGAT	0.383																																					Melanoma(58;108 1995 6081)	uc002upq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(2332-2334)TCG>TGG		integrin alpha-V isoform 1 precursor							131.0	119.0	123.0					2																	187532403		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187532403C>G		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2333C>G	2.37:g.187532403C>G	ENSP00000261023:p.Ser778Trp					ITGAV_uc010frs.2_Missense_Mutation_p.S742W|ITGAV_uc010zfv.1_Missense_Mutation_p.S732W	p.S778W	NM_002210	NP_002201	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	24	2609	+			778			Extracellular (Potential).		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.2333C>G	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890856	0.91889	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.57107	0.42;0.42;0.42	5.74	5.74	0.90152	Integrin alpha-2 (1);	0.203647	0.43919	D	0.000510	T	0.78227	0.4250	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.81156	-0.1061	10	0.87932	D	0	.	19.9157	0.97061	0.0:1.0:0.0:0.0	.	732;742;778	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	W	778;742;732	ENSP00000261023:S778W;ENSP00000364042:S742W;ENSP00000404291:S732W	ENSP00000261023:S778W	S	+	2	0	ITGAV	187240648	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	7.286000	0.78671	2.719000	0.93026	0.650000	0.86243	TCG		PASS	0.383	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		9	86	9	86	---	---	---	---
PMS1	5378	broad.mit.edu	37	2	190719454	190719454	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:190719454G>C	ENST00000441310.2	+	9	1689	c.1456G>C	c.(1456-1458)Ggt>Cgt	p.G486R	PMS1_ENST00000447232.2_Missense_Mutation_p.G486R|PMS1_ENST00000409823.3_Missense_Mutation_p.G447R|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Missense_Mutation_p.G310R|PMS1_ENST00000418224.3_Missense_Mutation_p.G310R	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	486					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.G486R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GGAAGAAGCAGGTCTTGAAAA	0.363			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														uc002urh.3			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	Mis|N	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		colorectal|endometrial|ovarian			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(1456-1458)GGT>CGT	Direct_reversal_of_damage|MMR	postmeiotic segregation 1 isoform a							44.0	49.0	47.0					2																	190719454		2194	4296	6490	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190719454G>C		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.1456G>C	2.37:g.190719454G>C	ENSP00000406490:p.Gly486Arg					PMS1_uc010zga.1_Missense_Mutation_p.G447R|PMS1_uc010zgb.1_Missense_Mutation_p.G425R|PMS1_uc002urk.3_Missense_Mutation_p.G447R|PMS1_uc002uri.3_Missense_Mutation_p.G486R|PMS1_uc010zgc.1_Missense_Mutation_p.G310R|PMS1_uc010zgd.1_Missense_Mutation_p.G310R|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.G447R|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.G271R|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.G154R	p.G486R	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		9	1985	+			486					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.1456G>C	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	G	0.348	-0.946423	0.02304	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	D;D;D;D;D;D;D	0.96265	-2.26;-1.94;-2.42;-2.79;-1.94;-2.09;-3.96	4.58	0.185	0.15096	.	1.059360	0.07284	N	0.871270	D	0.87418	0.6172	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B	0.29508	0.082;0.246;0.003;0.246;0.082;0.02;0.082	B;B;B;B;B;B;B	0.24006	0.05;0.034;0.001;0.034;0.034;0.034;0.05	T	0.80207	-0.1478	10	0.18276	T	0.48	5.0E-4	3.4072	0.07345	0.147:0.4043:0.3182:0.1305	.	486;447;447;271;447;486;486	Q4VAL4;B4DMF4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	R	310;486;310;447;486;310;425;271	ENSP00000406490:G486R;ENSP00000404492:G310R;ENSP00000387125:G447R;ENSP00000401064:G486R;ENSP00000398378:G310R;ENSP00000389938:G425R;ENSP00000387169:G271R	ENSP00000376149:G310R	G	+	1	0	PMS1	190427699	0.008000	0.16893	0.113000	0.21522	0.381000	0.30169	0.335000	0.19806	0.127000	0.18452	0.460000	0.39030	GGT		PASS	0.363	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			22	44	22	44	---	---	---	---
DYTN	391475	broad.mit.edu	37	2	207557925	207557925	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:207557925C>A	ENST00000452335.2	-	9	1070	c.954G>T	c.(952-954)aaG>aaT	p.K318N		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	318						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.K318N(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GAGGCACACCCTTTGGATTCA	0.582																																						uc002vbr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(952-954)AAG>AAT		dystrotelin							57.0	58.0	58.0					2																	207557925		2032	4210	6242	SO:0001583	missense	391475					plasma membrane	zinc ion binding	g.chr2:207557925C>A	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.954G>T	2.37:g.207557925C>A	ENSP00000396593:p.Lys318Asn						p.K318N	NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	9	1071	-			318						Missense_Mutation	SNP	ENST00000452335.2	37	c.954G>T	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.590653	0.28357	.	.	ENSG00000232125	ENST00000452335	T	0.15139	2.45	5.2	3.2	0.36748	.	.	.	.	.	T	0.10680	0.0261	N	0.19112	0.55	0.09310	N	1	B	0.18741	0.03	B	0.14578	0.011	T	0.34304	-0.9834	9	0.21540	T	0.41	-3.0E-4	9.5822	0.39495	0.0:0.8224:0.0:0.1776	.	318	A2CJ06	DYTN_HUMAN	N	318	ENSP00000396593:K318N	ENSP00000396593:K318N	K	-	3	2	DYTN	207266170	0.000000	0.05858	0.001000	0.08648	0.076000	0.17211	0.800000	0.27042	0.635000	0.30488	0.555000	0.69702	AAG		PASS	0.582	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			12	23	12	23	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209215512	209215512	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:209215512G>T	ENST00000264380.4	+	37	5610	c.5452G>T	c.(5452-5454)Gcc>Tcc	p.A1818S		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1818	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.A1818S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGATGCTAATGCCAAGTTTTA	0.418																																						uc002vcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(5452-5454)GCC>TCC		phosphatidylinositol-3-phosphate 5-kinase type							107.0	108.0	108.0					2																	209215512		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209215512G>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5452G>T	2.37:g.209215512G>T	ENSP00000264380:p.Ala1818Ser						p.A1818S	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			37	5610	+			1818			PIPK.		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.5452G>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835163	0.71373	.	.	ENSG00000115020	ENST00000264380	T	0.28666	1.6	5.43	5.43	0.79202	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.110270	0.64402	D	0.000008	T	0.40815	0.1132	N	0.21097	0.63	0.80722	D	1	D	0.69078	0.997	D	0.72338	0.977	T	0.10894	-1.0610	10	0.21540	T	0.41	-7.4052	17.4163	0.87500	0.0:0.0:1.0:0.0	.	1818	Q9Y2I7	FYV1_HUMAN	S	1818	ENSP00000264380:A1818S	ENSP00000264380:A1818S	A	+	1	0	PIKFYVE	208923757	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	7.677000	0.84024	2.554000	0.86153	0.655000	0.94253	GCC		PASS	0.418	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		25	84	25	84	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211469926	211469926	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr2:211469926C>T	ENST00000233072.5	+	17	2133	c.1937C>T	c.(1936-1938)aCt>aTt	p.T646I	CPS1_ENST00000430249.2_Missense_Mutation_p.T652I|CPS1_ENST00000451903.2_Missense_Mutation_p.T195I	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	646	ATP-grasp 1.				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.T646I(1)|p.T652I(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)	AATTGTGTCACTGTCTGTAAC	0.408																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(1936-1938)ACT>ATT		carbamoyl-phosphate synthetase 1 isoform b							178.0	158.0	165.0					2																	211469926		2203	4300	6503	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.chr2:211469926C>T	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	ENST00000233072.5:c.1937C>T	2.37:g.211469926C>T	ENSP00000233072:p.Thr646Ile					CPS1_uc010fur.2_Missense_Mutation_p.T652I|CPS1_uc010fus.2_Missense_Mutation_p.T195I	p.T646I	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)	17	2069	+			646			ATP-grasp 1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.1937C>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506273	0.85282	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.96716	-4.1;-4.1;-4.1	5.7	5.7	0.88788	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.046270	0.85682	D	0.000000	D	0.97337	0.9129	L	0.46819	1.47	0.58432	D	0.999993	D;D	0.67145	0.996;0.996	D;D	0.71870	0.975;0.975	D	0.97948	1.0330	10	0.87932	D	0	-4.2456	19.8309	0.96634	0.0:1.0:0.0:0.0	.	656;646	Q59HF8;P31327	.;CPSM_HUMAN	I	652;654;646;195	ENSP00000402608:T652I;ENSP00000233072:T646I;ENSP00000406136:T195I	ENSP00000233072:T646I	T	+	2	0	CPS1	211178171	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.487000	0.81328	2.684000	0.91462	0.650000	0.86243	ACT		PASS	0.408	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			8	75	8	75	---	---	---	---
HRH1	3269	broad.mit.edu	37	3	11301218	11301218	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr3:11301218G>T	ENST00000397056.1	+	3	686	c.495G>T	c.(493-495)tgG>tgT	p.W165C	HRH1_ENST00000431010.2_Missense_Mutation_p.W165C|HRH1_ENST00000438284.2_Missense_Mutation_p.W165C	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	165					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)	p.W165C(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TTCTAGGCTGGAATCACTTCA	0.522																																						uc010hdr.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(493-495)TGG>TGT		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)						103.0	97.0	99.0					3																	11301218		2203	4300	6503	SO:0001583	missense	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11301218G>T		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.495G>T	3.37:g.11301218G>T	ENSP00000380247:p.Trp165Cys					HRH1_uc010hds.2_Missense_Mutation_p.W165C|HRH1_uc010hdt.2_Missense_Mutation_p.W165C|HRH1_uc003bwb.3_Missense_Mutation_p.W165C	p.W165C	NM_001098213	NP_001091683	P35367	HRH1_HUMAN			2	837	+			165			Helical; Name=4; (Potential).		A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	c.495G>T	CCDS2604.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309096	0.81247	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.72051	-0.62;-0.62;-0.62	5.98	5.98	0.97165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89501	0.6733	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91285	0.5054	10	0.87932	D	0	-19.6705	20.4434	0.99119	0.0:0.0:1.0:0.0	.	165	P35367	HRH1_HUMAN	C	165	ENSP00000406705:W165C;ENSP00000397028:W165C;ENSP00000380247:W165C	ENSP00000380247:W165C	W	+	3	0	HRH1	11276218	1.000000	0.71417	0.974000	0.42286	0.896000	0.52359	9.640000	0.98453	2.838000	0.97847	0.655000	0.94253	TGG		PASS	0.522	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			12	70	12	70	---	---	---	---
ABHD5	51099	broad.mit.edu	37	3	43759279	43759279	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr3:43759279G>C	ENST00000458276.2	+	6	1013	c.890G>C	c.(889-891)cGa>cCa	p.R297P	ABHD5_ENST00000463153.1_3'UTR	NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	297					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|negative regulation of sequestering of triglyceride (GO:0010891)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|lysophosphatidic acid acyltransferase activity (GO:0042171)	p.R297P(1)		kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		TTTGGCGCCCGATCCTGCATA	0.443																																						uc003cmx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(889-891)CGA>CCA		abhydrolase domain containing 5							139.0	129.0	133.0					3																	43759279		2203	4300	6503	SO:0001583	missense	51099				cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity	g.chr3:43759279G>C	AF007132	CCDS2711.1	3p21.33	2012-05-16			ENSG00000011198	ENSG00000011198		"""Abhydrolase domain containing"""	21396	protein-coding gene	gene with protein product		604780				11590543, 18606822	Standard	NM_016006		Approved	CGI-58, NCIE2	uc003cmx.3	Q8WTS1	OTTHUMG00000133039	ENST00000458276.2:c.890G>C	3.37:g.43759279G>C	ENSP00000390849:p.Arg297Pro						p.R297P	NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)	6	1000	+		Renal(3;0.0134)	297					B2R9K0|Q9Y369	Missense_Mutation	SNP	ENST00000458276.2	37	c.890G>C	CCDS2711.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096870	0.94197	.	.	ENSG00000011198	ENST00000458276	T	0.68331	-0.32	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.80701	0.4673	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.78532	-0.2168	9	.	.	.	-9.6183	19.7754	0.96389	0.0:0.0:1.0:0.0	.	297	Q8WTS1	ABHD5_HUMAN	P	297	ENSP00000390849:R297P	.	R	+	2	0	ABHD5	43734283	1.000000	0.71417	0.965000	0.40720	0.953000	0.61014	9.869000	0.99810	2.681000	0.91329	0.591000	0.81541	CGA		PASS	0.443	ABHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256644.2	NM_016006		23	80	23	80	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64644325	64644325	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr3:64644325G>T	ENST00000498707.1	-	4	1164	c.822C>A	c.(820-822)gaC>gaA	p.D274E	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D274E|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.D274E	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	274					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D274E(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTCTTGTGTTGTCCGTCTTAT	0.438																																						uc003dmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(820-822)GAC>GAA		ADAM metallopeptidase with thrombospondin type 1							256.0	247.0	250.0					3																	64644325		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64644325G>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.822C>A	3.37:g.64644325G>T	ENSP00000418735:p.Asp274Glu					ADAMTS9_uc011bfo.1_Missense_Mutation_p.D274E|ADAMTS9_uc003dmh.1_Missense_Mutation_p.D103E|ADAMTS9_uc003dmk.1_Missense_Mutation_p.D274E	p.D274E	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	4	854	-		Lung NSC(201;0.00682)	274					A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.822C>A	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	1.397	-0.579291	0.03854	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	T;T;T	0.60040	0.34;0.39;0.22	5.88	-2.45	0.06481	.	0.567212	0.19067	N	0.123602	T	0.25382	0.0617	N	0.14661	0.345	0.09310	N	0.999999	B;B;B;B	0.09022	0.0;0.0;0.002;0.0	B;B;B;B	0.08055	0.001;0.003;0.002;0.0	T	0.25676	-1.0125	10	0.02654	T	1	.	3.5696	0.07912	0.2539:0.3504:0.3086:0.0871	.	274;274;274;274	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	E	274	ENSP00000295903:D274E;ENSP00000418735:D274E;ENSP00000419217:D274E	ENSP00000295903:D274E	D	-	3	2	ADAMTS9	64619365	0.853000	0.29707	0.001000	0.08648	0.018000	0.09664	0.111000	0.15458	-0.139000	0.11414	-0.310000	0.09108	GAC		PASS	0.438	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			37	152	37	152	---	---	---	---
HTR1F	3355	broad.mit.edu	37	3	88040159	88040159	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr3:88040159A>G	ENST00000319595.4	+	1	314	c.260A>G	c.(259-261)gAg>gGg	p.E87G		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	87					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.E87G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	ATTGTGAGAGAGAGCTGGATT	0.463																																						uc003dqr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(259-261)GAG>GGG		5-hydroxytryptamine (serotonin) receptor 1F	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						99.0	87.0	91.0					3																	88040159		2203	4300	6503	SO:0001583	missense	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88040159A>G	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.260A>G	3.37:g.88040159A>G	ENSP00000322924:p.Glu87Gly						p.E87G	NM_000866	NP_000857	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	2	418	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	87			Extracellular (By similarity).			Missense_Mutation	SNP	ENST00000319595.4	37	c.260A>G	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.710981	0.30322	.	.	ENSG00000179097	ENST00000319595	T	0.33654	1.4	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.106986	0.64402	D	0.000008	T	0.30039	0.0752	N	0.04275	-0.24	0.39745	D	0.971801	D	0.59767	0.986	D	0.65573	0.936	T	0.17561	-1.0365	10	0.02654	T	1	.	13.2197	0.59881	1.0:0.0:0.0:0.0	.	87	P30939	5HT1F_HUMAN	G	87	ENSP00000322924:E87G	ENSP00000322924:E87G	E	+	2	0	HTR1F	88122849	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.535000	0.82014	2.019000	0.59389	0.477000	0.44152	GAG		PASS	0.463	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		5	101	5	101	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96533584	96533584	+	Silent	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr3:96533584G>T	ENST00000389672.5	+	1	155	c.117G>T	c.(115-117)ggG>ggT	p.G39G	EPHA6_ENST00000542517.1_5'Flank|EPHA6_ENST00000470610.2_Silent_p.G39G	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.G39G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTGTTCCCGGGACCTCGCGCA	0.721																																						uc010how.1																			1	Substitution - coding silent(1)		lung(1)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(115-117)GGG>GGT		EPH receptor A6 isoform a							10.0	13.0	12.0					3																	96533584		1924	4121	6045	SO:0001819	synonymous_variant	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96533584G>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.117G>T	3.37:g.96533584G>T						EPHA6_uc003drp.1_Silent_p.G39G	p.G39G	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			1	160	+			Error:Variant_position_missing_in_Q9UF33_after_alignment					D6RAL5	Silent	SNP	ENST00000389672.5	37	c.117G>T	CCDS46876.1																																																																																				PASS	0.721	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		13	14	13	14	---	---	---	---
OR5AC2	81050	broad.mit.edu	37	3	97806662	97806662	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr3:97806662A>G	ENST00000358642.2	+	1	646	c.646A>G	c.(646-648)Atc>Gtc	p.I216V		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	216					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.I216V(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TTTAATGACTATCATAATCTC	0.353																																						uc011bgs.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(646-648)ATC>GTC		olfactory receptor, family 5, subfamily AC,							36.0	37.0	37.0					3																	97806662		2203	4300	6503	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806662A>G	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.646A>G	3.37:g.97806662A>G	ENSP00000351466:p.Ile216Val						p.I216V	NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN			1	646	+			216			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000358642.2	37	c.646A>G	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	A	4.621	0.115482	0.08831	.	.	ENSG00000196578	ENST00000358642	T	0.00291	8.27	4.42	-3.05	0.05396	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37219	U	0.002200	T	0.00109	0.0003	N	0.20357	0.565	0.09310	N	1	B	0.23735	0.09	B	0.30943	0.122	T	0.41787	-0.9489	10	0.06236	T	0.91	-29.6201	5.1823	0.15167	0.5359:0.0:0.3336:0.1305	.	216	Q9NZP5	O5AC2_HUMAN	V	216	ENSP00000351466:I216V	ENSP00000351466:I216V	I	+	1	0	OR5AC2	99289352	0.000000	0.05858	0.000000	0.03702	0.827000	0.46813	0.192000	0.17096	-0.371000	0.08004	0.427000	0.28365	ATC		PASS	0.353	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			3	30	3	30	---	---	---	---
GPR15	2838	broad.mit.edu	37	3	98251900	98251900	+	Silent	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr3:98251900C>G	ENST00000284311.3	+	1	1158	c.1023C>G	c.(1021-1023)ctC>ctG	p.L341L		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	341					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.L341L(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CTAAGGCTCTCTCCACCTTCA	0.493																																						uc011bgy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1021-1023)CTC>CTG		G protein-coupled receptor 15							76.0	79.0	78.0					3																	98251900		2203	4300	6503	SO:0001819	synonymous_variant	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251900C>G		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.1023C>G	3.37:g.98251900C>G							p.L341L	NM_005290	NP_005281	P49685	GPR15_HUMAN		Lung(72;0.246)	1	1023	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	341			Cytoplasmic (Potential).		Q3MIL4|Q6ISN6	Silent	SNP	ENST00000284311.3	37	c.1023C>G	CCDS2931.1																																																																																				PASS	0.493	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			18	117	18	117	---	---	---	---
CEP97	79598	broad.mit.edu	37	3	101477150	101477150	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr3:101477150C>G	ENST00000341893.3	+	9	2452	c.1700C>G	c.(1699-1701)gCc>gGc	p.A567G	CEP97_ENST00000327230.4_Missense_Mutation_p.A567G|CEP97_ENST00000494050.1_Missense_Mutation_p.A508G			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	567	CCP110-binding.|IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.A567G(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						AAGCTTCAGGCCTGTTGGCGG	0.463																																						uc003dvk.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1699-1701)GCC>GGC		centrosomal protein 97kDa							76.0	83.0	81.0					3																	101477150		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101477150C>G	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1700C>G	3.37:g.101477150C>G	ENSP00000342510:p.Ala567Gly					CEP97_uc010hpm.1_Missense_Mutation_p.A533G|CEP97_uc011bhf.1_Missense_Mutation_p.A508G|CEP97_uc003dvl.1_Missense_Mutation_p.A263G|CEP97_uc003dvm.1_Missense_Mutation_p.A405G	p.A567G	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN			9	1727	+			567			IQ.|CEP110 binding.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.1700C>G	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.938845	0.92526	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.55588	0.53;0.51;1.31	5.47	5.47	0.80525	.	0.178502	0.51477	D	0.000086	T	0.68430	0.3000	M	0.68952	2.095	0.50632	D	0.999883	P;D;D	0.58268	0.951;0.978;0.982	P;P;P	0.58721	0.738;0.758;0.844	T	0.67730	-0.5595	10	0.44086	T	0.13	-9.8992	19.3166	0.94216	0.0:1.0:0.0:0.0	.	508;567;567	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	G	567;567;508	ENSP00000342510:A567G;ENSP00000325881:A567G;ENSP00000418185:A508G	ENSP00000325881:A567G	A	+	2	0	CEP97	102959840	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.493000	0.66899	2.557000	0.86248	0.305000	0.20034	GCC		PASS	0.463	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		8	148	8	148	---	---	---	---
BBX	56987	broad.mit.edu	37	3	107435501	107435501	+	Silent	SNP	T	T	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr3:107435501T>G	ENST00000325805.8	+	5	497	c.210T>G	c.(208-210)acT>acG	p.T70T	BBX_ENST00000406780.1_Silent_p.T70T|BBX_ENST00000416476.2_Silent_p.T70T|BBX_ENST00000415149.2_Silent_p.T70T|BBX_ENST00000402543.1_Silent_p.T70T			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	70					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T70T(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TTGGTGAAACTGAAGATGATG	0.433																																						uc010hpr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(208-210)ACT>ACG		HMG-BOX transcription factor BBX isoform 1							116.0	109.0	111.0					3																	107435501		2203	4300	6503	SO:0001819	synonymous_variant	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107435501T>G	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.210T>G	3.37:g.107435501T>G						BBX_uc003dwk.3_Silent_p.T70T|BBX_uc003dwl.3_Silent_p.T70T|BBX_uc010hps.1_Silent_p.T91T|BBX_uc003dwm.3_Silent_p.T70T	p.T70T	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		5	537	+			70					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Silent	SNP	ENST00000325805.8	37	c.210T>G	CCDS46881.1																																																																																				PASS	0.433	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		24	81	24	81	---	---	---	---
HHLA2	11148	broad.mit.edu	37	3	108072395	108072395	+	Silent	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr3:108072395C>T	ENST00000357759.5	+	4	600	c.186C>T	c.(184-186)caC>caT	p.H62H	HHLA2_ENST00000467761.1_Silent_p.H62H|HHLA2_ENST00000467562.1_Intron|HHLA2_ENST00000491820.1_Silent_p.H62H|HHLA2_ENST00000489514.2_Silent_p.H62H	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	62	Ig-like V-type 1.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)		p.H62H(2)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TCGTAATACACTGGAAGTATC	0.388																																						uc003dwy.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(184-186)CAC>CAT		HERV-H LTR-associating 2 precursor							84.0	76.0	78.0					3																	108072395		1861	4112	5973	SO:0001819	synonymous_variant	11148					integral to membrane		g.chr3:108072395C>T	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.186C>T	3.37:g.108072395C>T						HHLA2_uc011bhl.1_Intron|HHLA2_uc010hpu.2_Silent_p.H62H|HHLA2_uc003dwz.2_Silent_p.H62H	p.H62H	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN			4	353	+			62			Ig-like V-type 1.		B4DKN2|D3DN60|Q9NWQ6	Silent	SNP	ENST00000357759.5	37	c.186C>T	CCDS46883.1																																																																																				PASS	0.388	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		9	54	9	54	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121208002	121208002	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr3:121208002A>G	ENST00000264233.5	-	16	3904	c.3776T>C	c.(3775-3777)aTa>aCa	p.I1259T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1259					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.I1394T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGTTCTGCTTATATCATCTCC	0.343								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(3775-3777)ATA>ACA	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							174.0	180.0	178.0					3																	121208002		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208002A>G	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3776T>C	3.37:g.121208002A>G	ENSP00000264233:p.Ile1259Thr					POLQ_uc003eed.2_Missense_Mutation_p.I431T	p.I1259T	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3905	-			1259					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.3776T>C	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	A	0.763	-0.768399	0.02974	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.51071	0.72	5.45	0.43	0.16515	.	0.658349	0.16472	N	0.212938	T	0.21921	0.0528	N	0.17082	0.46	0.09310	N	1	B;B	0.20052	0.005;0.041	B;B	0.14578	0.002;0.011	T	0.10590	-1.0623	10	0.19590	T	0.45	.	0.8143	0.01099	0.415:0.1182:0.1479:0.319	.	1259;431	O75417;O75417-2	DPOLQ_HUMAN;.	T	882;1259;1395	ENSP00000264233:I1259T	ENSP00000264233:I1259T	I	-	2	0	POLQ	122690692	0.006000	0.16342	0.001000	0.08648	0.124000	0.20399	-0.219000	0.09228	-0.057000	0.13199	0.460000	0.39030	ATA		PASS	0.343	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		7	238	7	238	---	---	---	---
NPHP3	27031	broad.mit.edu	37	3	132432080	132432080	+	Silent	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr3:132432080G>A	ENST00000337331.5	-	6	1094	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	NPHP3_ENST00000326682.8_Silent_p.F336F|NPHP3_ENST00000476742.1_5'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	336					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.F336F(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AAACAGCATGGAAAAAATATC	0.269																																						uc003epe.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1006-1008)TTC>TTT		nephrocystin 3							48.0	50.0	49.0					3																	132432080		2198	4273	6471	SO:0001819	synonymous_variant	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132432080G>A	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1008C>T	3.37:g.132432080G>A						NPHP3_uc003epf.1_Silent_p.F91F	p.F336F	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			6	1085	-			336					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Silent	SNP	ENST00000337331.5	37	c.1008C>T	CCDS3078.1																																																																																				PASS	0.269	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		9	26	9	26	---	---	---	---
FOXL2NB	401089	broad.mit.edu	37	3	138668461	138668461	+	Missense_Mutation	SNP	A	A	T	rs141282655	byFrequency	TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr3:138668461A>T	ENST00000383165.3	+	2	331	c.200A>T	c.(199-201)cAt>cTt	p.H67L	FOXL2_ENST00000330315.3_5'Flank	NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		67								p.H67L(1)		large_intestine(1)|lung(3)	4						GCTGTCCGGCATTCGAAGGCT	0.572																																						uc003esx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(199-201)CAT>CTT		chromosome 3 open reading frame 72							68.0	70.0	70.0					3																	138668461		1945	4148	6093	SO:0001583	missense	401089							g.chr3:138668461A>T																												ENST00000383165.3:c.200A>T	3.37:g.138668461A>T	ENSP00000372651:p.His67Leu					FOXL2_uc003esw.2_5'Flank|C3orf72_uc011bmr.1_5'UTR	p.H67L	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN			2	331	+			67					A6NGX0	Missense_Mutation	SNP	ENST00000383165.3	37	c.200A>T	CCDS43155.1	.	.	.	.	.	.	.	.	.	.	A	8.507	0.865522	0.17250	.	.	ENSG00000206262	ENST00000383165	.	.	.	1.63	0.298	0.15766	.	.	.	.	.	T	0.10637	0.0260	N	0.14661	0.345	0.09310	N	1	P	0.50710	0.938	B	0.34931	0.192	T	0.18871	-1.0323	8	0.87932	D	0	.	4.518	0.11945	0.6589:0.3411:0.0:0.0	.	67	Q6ZUU3	CC072_HUMAN	L	67	.	ENSP00000372651:H67L	H	+	2	0	C3orf72	140151151	0.000000	0.05858	0.002000	0.10522	0.064000	0.16182	-0.312000	0.08113	0.065000	0.16485	0.454000	0.30748	CAT		PASS	0.572	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1			3	71	3	71	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140285003	140285003	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr3:140285003G>T	ENST00000458420.3	+	17	2966	c.2776G>T	c.(2776-2778)Gag>Tag	p.E926*		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	926	Glu-rich (highly acidic).				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.E926*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CGAAGAGGAGGAGGAGGAGGA	0.602										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(2776-2778)GAG>TAG		calsyntenin 2 precursor							92.0	84.0	87.0					3																	140285003		2203	4300	6503	SO:0001587	stop_gained	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140285003G>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2776G>T	3.37:g.140285003G>T	ENSP00000402460:p.Glu926*	HNSCC(16;0.037)					p.E926*	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			17	2966	+			926			Glu-rich (highly acidic).|Cytoplasmic (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Nonsense_Mutation	SNP	ENST00000458420.3	37	c.2776G>T	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	40	8.096583	0.98651	.	.	ENSG00000158258	ENST00000458420	.	.	.	5.59	4.71	0.59529	.	0.153108	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.5335	14.3122	0.66424	0.0:0.1497:0.8503:0.0	.	.	.	.	X	926	.	.	E	+	1	0	CLSTN2	141767693	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	9.097000	0.94193	1.329000	0.45376	0.655000	0.94253	GAG		PASS	0.602	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		6	42	6	42	---	---	---	---
SI	6476	broad.mit.edu	37	3	164758839	164758839	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr3:164758839T>G	ENST00000264382.3	-	18	2110	c.2048A>C	c.(2047-2049)aAa>aCa	p.K683T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	683	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.K683T(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CCTTGATGATTTAACCAAAAG	0.348										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2047-2049)AAA>ACA		sucrase-isomaltase	Acarbose(DB00284)						123.0	128.0	126.0					3																	164758839		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164758839T>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2048A>C	3.37:g.164758839T>G	ENSP00000264382:p.Lys683Thr	HNSCC(35;0.089)					p.K683T	NM_001041	NP_001032	P14410	SUIS_HUMAN			18	2110	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	683			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2048A>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	1.395	-0.579732	0.03854	.	.	ENSG00000090402	ENST00000264382	D	0.93133	-3.17	4.48	0.898	0.19264	Glycoside hydrolase, superfamily (1);	1.089260	0.06831	N	0.793918	D	0.88599	0.6480	L	0.37466	1.105	0.09310	N	1	B	0.25351	0.124	B	0.30855	0.121	T	0.74907	-0.3504	10	0.16896	T	0.51	.	7.1396	0.25548	0.0:0.2876:0.0:0.7124	.	683	P14410	SUIS_HUMAN	T	683	ENSP00000264382:K683T	ENSP00000264382:K683T	K	-	2	0	SI	166241533	0.001000	0.12720	0.108000	0.21378	0.469000	0.32828	0.858000	0.27845	0.355000	0.24131	0.449000	0.29647	AAA		PASS	0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		27	209	27	209	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164906740	164906740	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr3:164906740G>T	ENST00000475390.1	-	2	2322	c.1879C>A	c.(1879-1881)Cct>Act	p.P627T	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P627T			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	627					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.P627T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GAATCTCCAGGCTGGGCTGGG	0.547										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(1879-1881)CCT>ACT		slit and trk like 3 protein precursor							33.0	36.0	35.0					3																	164906740		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906740G>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1879C>A	3.37:g.164906740G>T	ENSP00000420091:p.Pro627Thr	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.P627T	p.P627T	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2323	-			627			Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1879C>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	9.337	1.062115	0.19987	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.52526	0.66;0.66	5.23	2.35	0.29111	.	0.446120	0.16716	N	0.202451	T	0.29223	0.0727	L	0.27975	0.815	0.44024	D	0.996747	B	0.19073	0.033	B	0.12156	0.007	T	0.04930	-1.0917	10	0.19590	T	0.45	-2.4785	6.6566	0.22990	0.0724:0.1289:0.6651:0.1336	.	627	O94933	SLIK3_HUMAN	T	627	ENSP00000420091:P627T;ENSP00000241274:P627T	ENSP00000241274:P627T	P	-	1	0	SLITRK3	166389434	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	2.436000	0.44819	0.397000	0.25310	0.655000	0.94253	CCT		PASS	0.547	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		7	35	7	35	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167016134	167016134	+	Missense_Mutation	SNP	C	C	G	rs377062785		TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr3:167016134C>G	ENST00000392766.2	-	18	2178	c.1838G>C	c.(1837-1839)cGt>cCt	p.R613P	ZBBX_ENST00000392767.2_Missense_Mutation_p.R613P|ZBBX_ENST00000392764.1_Missense_Mutation_p.R584P|ZBBX_ENST00000307529.5_Missense_Mutation_p.R613P|ZBBX_ENST00000455345.2_Missense_Mutation_p.R613P	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	613						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R613P(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GCATTCTAAACGATGAGAAGG	0.338																																						uc003fep.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1837-1839)CGT>CCT		zinc finger, B-box domain containing							126.0	124.0	125.0					3																	167016134		1828	4081	5909	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167016134C>G	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1838G>C	3.37:g.167016134C>G	ENSP00000376519:p.Arg613Pro					ZBBX_uc011bpc.1_Missense_Mutation_p.R613P|ZBBX_uc003feq.2_Missense_Mutation_p.R584P	p.R613P	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			18	2161	-			613					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1838G>C	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	9.167	1.020244	0.19433	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.10382	3.06;3.06;3.07;3.07;2.88	4.89	4.02	0.46733	.	0.424206	0.24044	N	0.042070	T	0.08403	0.0209	L	0.29908	0.895	0.09310	N	1	B;B	0.27068	0.167;0.104	B;B	0.26094	0.066;0.03	T	0.26467	-1.0102	10	0.35671	T	0.21	-0.0917	9.7645	0.40552	0.0:0.9026:0.0:0.0974	.	613;613	A8MT70-2;A8MT70	.;ZBBX_HUMAN	P	613;613;613;613;584	ENSP00000376519:R613P;ENSP00000376520:R613P;ENSP00000390232:R613P;ENSP00000305065:R613P;ENSP00000376517:R584P	ENSP00000305065:R613P	R	-	2	0	ZBBX	168498828	0.000000	0.05858	0.083000	0.20561	0.037000	0.13140	-0.505000	0.06367	1.192000	0.43071	-0.196000	0.12772	CGT		PASS	0.338	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		10	144	10	144	---	---	---	---
NAALADL2	254827	broad.mit.edu	37	3	175165022	175165022	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr3:175165022A>T	ENST00000454872.1	+	6	1224	c.1096A>T	c.(1096-1098)Agt>Tgt	p.S366C	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	366						integral component of membrane (GO:0016021)		p.S366C(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TACAGATGAAAGTTTTAGACA	0.353																																						uc003fit.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1096-1098)AGT>TGT		N-acetylated alpha-linked acidic dipeptidase 2							64.0	59.0	60.0					3																	175165022		1841	4088	5929	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175165022A>T		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1096A>T	3.37:g.175165022A>T	ENSP00000404705:p.Ser366Cys					NAALADL2_uc003fiu.1_Missense_Mutation_p.S359C|NAALADL2_uc010hwy.1_Intron|NAALADL2_uc010hwz.1_Translation_Start_Site	p.S366C	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	6	1183	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	366			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.1096A>T	CCDS46960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.18|10.18	1.279448|1.279448	0.23307|0.23307	.|.	.|.	ENSG00000177694|ENSG00000177694	ENST00000316366|ENST00000454872	.|T	.|0.44881	.|0.91	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.120088	.|0.64402	.|D	.|0.000016	T|T	0.58104|0.58104	0.2099|0.2099	M|M	0.63843|0.63843	1.955|1.955	0.29791|0.29791	N|N	0.833174|0.833174	.|D	.|0.76494	.|0.999	.|D	.|0.63488	.|0.915	T|T	0.58504|0.58504	-0.7625|-0.7625	6|10	0.49607|0.33141	T|T	0.09|0.24	-15.4903|-15.4903	14.3|14.3	0.66341|0.66341	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|366	.|Q58DX5	.|NADL2_HUMAN	N|C	122|366	.|ENSP00000404705:S366C	ENSP00000314951:K122N|ENSP00000404705:S366C	K|S	+|+	3|1	2|0	NAALADL2|NAALADL2	176647716|176647716	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.434000|0.434000	0.31775|0.31775	4.049000|4.049000	0.57397|0.57397	2.111000|2.111000	0.64477|0.64477	0.455000|0.455000	0.32223|0.32223	AAA|AGT		PASS	0.353	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		3	38	3	38	---	---	---	---
LSG1	55341	broad.mit.edu	37	3	194365336	194365336	+	Missense_Mutation	SNP	A	A	G	rs373776117		TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr3:194365336A>G	ENST00000265245.5	-	13	2077	c.1763T>C	c.(1762-1764)aTt>aCt	p.I588T	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	588					GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.I588T(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		GATATTTTCAATCTGCTTTGC	0.323																																						uc003fui.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1762-1764)ATT>ACT		large subunit GTPase 1		A	THR/ILE	0,4406		0,0,2203	126.0	120.0	122.0		1763	4.7	1.0	3		122	2,8598	2.2+/-6.3	0,2,4298	no	missense	LSG1	NM_018385.2	89	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	benign	588/659	194365336	2,13004	2203	4300	6503	SO:0001583	missense	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194365336A>G		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.1763T>C	3.37:g.194365336A>G	ENSP00000265245:p.Ile588Thr						p.I588T	NM_018385	NP_060855	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	13	2078	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		588					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	ENST00000265245.5	37	c.1763T>C	CCDS33922.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.560313	0.45590	0.0	2.33E-4	ENSG00000041802	ENST00000265245	T	0.13901	2.55	5.9	4.74	0.60224	.	0.092031	0.64402	N	0.000001	T	0.11836	0.0288	L	0.51422	1.61	0.58432	D	0.999997	B	0.09022	0.002	B	0.10450	0.005	T	0.06698	-1.0812	10	0.05525	T	0.97	.	11.6723	0.51408	0.9312:0.0:0.0688:0.0	.	588	Q9H089	LSG1_HUMAN	T	588	ENSP00000265245:I588T	ENSP00000265245:I588T	I	-	2	0	LSG1	195846625	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.310000	0.78947	1.066000	0.40716	0.533000	0.62120	ATT		PASS	0.323	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		5	65	5	65	---	---	---	---
SENP5	205564	broad.mit.edu	37	3	196613059	196613059	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr3:196613059A>T	ENST00000323460.5	+	2	1256	c.1007A>T	c.(1006-1008)aAg>aTg	p.K336M	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.K336M	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	336					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.K336M(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TTCTTGGGCAAGGAGCTTAGT	0.507																																					Ovarian(47;891 1095 11174 13858 51271)	uc003fwz.3																			1	Substitution - Missense(1)		lung(1)	breast(2)|lung(1)	3						c.(1006-1008)AAG>ATG		SUMO1/sentrin specific peptidase 5							95.0	82.0	86.0					3																	196613059		2203	4300	6503	SO:0001583	missense	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196613059A>T	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1007A>T	3.37:g.196613059A>T	ENSP00000327197:p.Lys336Met					SENP5_uc011bty.1_Missense_Mutation_p.K336M	p.K336M	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	2	1256	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		336					B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	c.1007A>T	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.215887	0.58452	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.35421	1.31;1.31	5.4	4.17	0.49024	.	0.453643	0.22527	N	0.058899	T	0.41190	0.1148	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.65573	0.936;0.747	T	0.35176	-0.9799	10	0.87932	D	0	-14.2459	9.812	0.40828	0.8285:0.1715:0.0:0.0	.	336;336	B4DY82;Q96HI0	.;SENP5_HUMAN	M	336	ENSP00000327197:K336M;ENSP00000390231:K336M	ENSP00000327197:K336M	K	+	2	0	SENP5	198097456	0.998000	0.40836	1.000000	0.80357	0.954000	0.61252	2.096000	0.41738	2.174000	0.68829	0.533000	0.62120	AAG		PASS	0.507	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		15	102	15	102	---	---	---	---
LRRC66	339977	broad.mit.edu	37	4	52863965	52863965	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr4:52863965T>C	ENST00000343457.3	-	3	811	c.805A>G	c.(805-807)Att>Gtt	p.I269V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	269						integral component of membrane (GO:0016021)		p.I269V(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GATTCAGAAATAAAATTTTGA	0.373																																						uc003gzi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(805-807)ATT>GTT		leucine rich repeat containing 66							168.0	160.0	162.0					4																	52863965		1872	4113	5985	SO:0001583	missense	339977					integral to membrane		g.chr4:52863965T>C	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.805A>G	4.37:g.52863965T>C	ENSP00000341944:p.Ile269Val						p.I269V	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			3	818	-			269						Missense_Mutation	SNP	ENST00000343457.3	37	c.805A>G	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.548005	0.27652	.	.	ENSG00000188993	ENST00000343457	T	0.52754	0.65	5.13	0.952	0.19584	.	0.612575	0.14656	N	0.306302	T	0.32645	0.0836	L	0.32530	0.975	0.09310	N	1	P	0.38827	0.649	B	0.37833	0.259	T	0.15292	-1.0442	10	0.59425	D	0.04	-4.5183	5.654	0.17633	0.0:0.0884:0.329:0.5826	.	269	Q68CR7	LRC66_HUMAN	V	269	ENSP00000341944:I269V	ENSP00000341944:I269V	I	-	1	0	LRRC66	52558722	0.473000	0.25878	0.036000	0.18154	0.351000	0.29236	0.183000	0.16919	0.087000	0.17167	0.533000	0.62120	ATT		PASS	0.373	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		63	139	63	139	---	---	---	---
PKD2	5311	broad.mit.edu	37	4	88973215	88973215	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr4:88973215G>T	ENST00000237596.2	+	7	1687	c.1621G>T	c.(1621-1623)Gat>Tat	p.D541Y	PKD2_ENST00000508588.1_5'UTR	NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.D541Y(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GTTTCTGGAAGATCAAAATAC	0.343																																						uc003hre.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1621-1623)GAT>TAT		polycystin 2							94.0	93.0	94.0					4																	88973215		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88973215G>T	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1621G>T	4.37:g.88973215G>T	ENSP00000237596:p.Asp541Tyr					PKD2_uc011cdf.1_5'UTR|PKD2_uc011cdg.1_5'UTR|PKD2_uc011cdh.1_5'UTR	p.D541Y	NM_000297	NP_000288	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	7	1687	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	541			Extracellular (Potential).		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000237596.2	37	c.1621G>T	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622458	0.46840	.	.	ENSG00000118762	ENST00000237596	T	0.70869	-0.52	5.23	3.45	0.39498	Polycystin cation channel, PKD1/PKD2 (1);	0.138729	0.64402	D	0.000004	T	0.69024	0.3065	L	0.54323	1.7	0.80722	D	1	P	0.38729	0.644	B	0.44044	0.439	T	0.68704	-0.5338	10	0.66056	D	0.02	-8.1832	10.0875	0.42428	0.0704:0.2612:0.6685:0.0	.	541	Q13563	PKD2_HUMAN	Y	541	ENSP00000237596:D541Y	ENSP00000237596:D541Y	D	+	1	0	PKD2	89192239	1.000000	0.71417	0.993000	0.49108	0.740000	0.42216	3.546000	0.53656	0.657000	0.30906	0.655000	0.94253	GAT		PASS	0.343	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297		9	58	9	58	---	---	---	---
MIR297	100126354	broad.mit.edu	37	4	111781746	111781746	+	RNA	SNP	G	G	T	rs113258805		TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr4:111781746G>T	ENST00000401142.1	-	0	57					NR_030643.1				microRNA 297																		CTTGATATATGAGtacataat	0.303																																						hsa-mir-297|MI0005775																			0					0															97.0	97.0	97.0					4																	111781746		1568	3581	5149			100126354							g.chr4:111781746G>T			4q25	2011-09-12		2008-12-18	ENSG00000215961	ENSG00000215961		"""ncRNAs / Micro RNAs"""	33691	non-coding RNA	RNA, micro		615520		MIRN297			Standard	NR_030643		Approved	hsa-mir-297					4.37:g.111781746G>T																-									RNA	SNP	ENST00000401142.1	37	c.58G>T																																																																																					PASS	0.303	MIR297-201	KNOWN	basic	miRNA	miRNA		NR_030643		11	91	11	91	---	---	---	---
ICE1	23379	broad.mit.edu	37	5	5463179	5463179	+	Silent	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr5:5463179G>T	ENST00000296564.7	+	13	3954	c.3732G>T	c.(3730-3732)tcG>tcT	p.S1244S		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1244					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.S1244S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ATGATTATTCGTTAAAAAATA	0.388																																						uc003jdm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3730-3732)TCG>TCT		hypothetical protein LOC23379							37.0	37.0	37.0					5																	5463179		1845	4087	5932	SO:0001819	synonymous_variant	23379							g.chr5:5463179G>T																												ENST00000296564.7:c.3732G>T	5.37:g.5463179G>T							p.S1244S	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	3954	+			1244					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.3732G>T	CCDS47187.1																																																																																				PASS	0.388	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			3	33	3	33	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21752268	21752268	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr5:21752268C>G	ENST00000382254.1	-	15	3049	c.1963G>C	c.(1963-1965)Gac>Cac	p.D655H	CDH12_ENST00000504376.2_Missense_Mutation_p.D655H|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.D615H|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	655					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D655Y(1)|p.D655H(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATGACGTTGTCTCTGATGTCT	0.453										HNSCC(59;0.17)																												uc010iuc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1963-1965)GAC>CAC		cadherin 12, type 2 preproprotein							99.0	91.0	94.0					5																	21752268		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21752268C>G	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1963G>C	5.37:g.21752268C>G	ENSP00000371689:p.Asp655His	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.D615H|CDH12_uc003jgk.2_Missense_Mutation_p.D655H|uc003jgj.2_Intron	p.D655H	NM_004061	NP_004052	P55289	CAD12_HUMAN			12	2421	-			655			Cytoplasmic (Potential).		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1963G>C	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155621	0.78114	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.79653	-1.29;-1.29;-1.29	5.27	5.27	0.74061	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.92886	0.7737	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.94684	0.7868	10	0.87932	D	0	.	18.8936	0.92414	0.0:1.0:0.0:0.0	.	615;655	B7Z2U6;P55289	.;CAD12_HUMAN	H	655;655;615	ENSP00000423577:D655H;ENSP00000371689:D655H;ENSP00000428786:D615H	ENSP00000371689:D655H	D	-	1	0	CDH12	21788025	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.487000	0.81328	2.477000	0.83638	0.467000	0.42956	GAC		PASS	0.453	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		11	80	11	80	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33616178	33616178	+	Splice_Site	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr5:33616178C>A	ENST00000504830.1	-	15	2479		c.e15-1		ADAMTS12_ENST00000504582.1_Splice_Site|ADAMTS12_ENST00000352040.3_Splice_Site	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12						cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCAACATAACCTAAAGAGAGA	0.473										HNSCC(64;0.19)																												uc003jia.1																			1	Unknown(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.e15-1		ADAM metallopeptidase with thrombospondin type 1							64.0	61.0	62.0					5																	33616178		2203	4300	6503	SO:0001630	splice_region_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33616178C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2144-1G>T	5.37:g.33616178C>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Splice_Site_p.G630_splice	p.G715_splice	NM_030955	NP_112217	P58397	ATS12_HUMAN			15	2307	-								A2RRN9|A5D6V6|Q6UWL3	Splice_Site	SNP	ENST00000504830.1	37	c.2144_splice	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994349	0.74703	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3342	0.94307	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS12	33651935	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.745000	0.85046	2.649000	0.89929	0.561000	0.74099	.		PASS	0.473	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	Intron	6	49	6	49	---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	38963107	38963107	+	Silent	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr5:38963107G>A	ENST00000357387.3	-	17	1467	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	RICTOR_ENST00000296782.5_Silent_p.F479F	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.F479F(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCATTTCATGGAAGCGTTTTA	0.383																																						uc003jlp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(1435-1437)TTC>TTT		rapamycin-insensitive companion of mTOR							122.0	111.0	115.0					5																	38963107		2203	4300	6503	SO:0001819	synonymous_variant	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38963107G>A		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.1437C>T	5.37:g.38963107G>A						RICTOR_uc003jlo.2_Silent_p.F479F|RICTOR_uc010ivf.2_Silent_p.F194F	p.F479F	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			17	1461	-	all_lung(31;0.000396)		479						Silent	SNP	ENST00000357387.3	37	c.1437C>T	CCDS34148.1																																																																																				PASS	0.383	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		4	65	4	65	---	---	---	---
C7	730	broad.mit.edu	37	5	40936549	40936549	+	Silent	SNP	C	C	T	rs376056883		TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr5:40936549C>T	ENST00000313164.9	+	5	749	c.390C>T	c.(388-390)atC>atT	p.I130I		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	130	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.I130I(1)					Ovarian(839;0.0112)				CCTGTGATATCGATAAACCTC	0.413																																						uc003jmh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(388-390)ATC>ATT		complement component 7 precursor		C		0,3938		0,0,1969	102.0	100.0	100.0		390	-5.6	0.0	5		100	2,8332		0,2,4165	no	coding-synonymous	C7	NM_000587.2		0,2,6134	TT,TC,CC		0.024,0.0,0.0163		130/844	40936549	2,12270	1969	4167	6136	SO:0001819	synonymous_variant	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40936549C>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.390C>T	5.37:g.40936549C>T						C7_uc011cpn.1_RNA	p.I130I	NM_000587	NP_000578	P10643	CO7_HUMAN			5	504	+		Ovarian(839;0.0112)	130			MACPF.		Q6P3T5|Q92489	Silent	SNP	ENST00000313164.9	37	c.390C>T	CCDS47201.1																																																																																				PASS	0.413	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			12	36	12	36	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41049530	41049531	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr5:41049530_41049531CC>AT	ENST00000399564.4	-	14	1802_1803	c.1352_1353GG>AT	c.(1351-1353)tGG>tAT	p.W451Y	MROH2B_ENST00000506092.2_Missense_Mutation_p.W6Y	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	451								p.W451Y(1)|p.W451*(1)|p.W451C(1)									GGATCCTTGGCCATAGCACCTG	0.441																																						uc003jmj.3																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(6)|central_nervous_system(2)	8						c.(1351-1353)TGG>TGT|c.(1351-1353)TGG>TAG		HEAT repeat family member 7B2																																				SO:0001583	missense	133558						binding	g.chr5:41049530C>A|g.chr5:41049531C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1352_1353delinsAT	5.37:g.41049530_41049531delinsAT	ENSP00000382476:p.Trp451Tyr					HEATR7B2_uc003jmi.3_Missense_Mutation_p.W6C|HEATR7B2_uc003jmi.3_Nonsense_Mutation_p.W6*	p.W451C|p.W451*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			14	1843|1842	-			451					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000399564.4	37	c.1353G>T|c.1352G>A	CCDS47202.1																																																																																				PASS	0.441	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		4	35	4	35	---	---	---	---
PRR16	51334	broad.mit.edu	37	5	120021651	120021651	+	Silent	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr5:120021651G>A	ENST00000407149.2	+	2	371	c.162G>A	c.(160-162)gtG>gtA	p.V54V	PRR16_ENST00000505123.1_5'UTR|PRR16_ENST00000379551.2_Silent_p.V31V|PRR16_ENST00000446965.1_5'UTR			Q569H4	LARGN_HUMAN	proline rich 16	54					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.V31V(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TCCACTAGGTGGTTGACCAGA	0.438																																						uc003ksq.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(160-162)GTG>GTA		proline rich 16							83.0	76.0	78.0					5																	120021651		2203	4300	6503	SO:0001819	synonymous_variant	51334							g.chr5:120021651G>A	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.162G>A	5.37:g.120021651G>A						PRR16_uc003ksp.2_Silent_p.V31V|PRR16_uc003ksr.2_5'UTR	p.V54V	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	2	325	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	54			Potential.		D3DSZ0|Q8IXY1|Q9NYI5	Silent	SNP	ENST00000407149.2	37	c.162G>A																																																																																					PASS	0.438	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		11	54	11	54	---	---	---	---
HSPA4	3308	broad.mit.edu	37	5	132406080	132406080	+	Silent	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr5:132406080G>A	ENST00000304858.2	+	4	610	c.321G>A	c.(319-321)gaG>gaA	p.E107E		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	107					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.E107E(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATATATGGAGGAAGAGCGAA	0.408																																					Colon(114;1299 1588 6063 12302 48757)	uc003kyj.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)	2						c.(319-321)GAG>GAA		heat shock 70kDa protein 4							177.0	162.0	167.0					5																	132406080		2203	4300	6503	SO:0001819	synonymous_variant	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132406080G>A	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.321G>A	5.37:g.132406080G>A							p.E107E	NM_002154	NP_002145	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	602	+			107					O95756|Q2TAL4|Q9BUK9	Silent	SNP	ENST00000304858.2	37	c.321G>A	CCDS4166.1																																																																																				PASS	0.408	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		25	77	25	77	---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170598227	170598227	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr5:170598227A>T	ENST00000523189.1	+	16	1966	c.1802A>T	c.(1801-1803)tAc>tTc	p.Y601F	RANBP17_ENST00000521759.1_Intron	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	601					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.Y601F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AACCTTAAATACTGGGGAAGA	0.303			T	TRD@	ALL																																	uc003mba.2				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1801-1803)TAC>TTC		RAN binding protein 17							125.0	122.0	123.0					5																	170598227		2203	4293	6496	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170598227A>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1802A>T	5.37:g.170598227A>T	ENSP00000427975:p.Tyr601Phe					RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA|RANBP17_uc003mbb.2_Intron	p.Y601F	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		16	1818	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	601					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.1802A>T	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.892080	0.33442	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.23950	1.88	6.08	3.49	0.39957	Armadillo-type fold (1);	0.251330	0.28151	N	0.016419	T	0.17874	0.0429	L	0.37630	1.12	0.34732	D	0.729853	B	0.12630	0.006	B	0.12156	0.007	T	0.12941	-1.0528	10	0.12766	T	0.61	-11.0742	11.3141	0.49381	0.7826:0.0:0.0:0.2174	.	601	Q9H2T7	RBP17_HUMAN	F	601;31	ENSP00000427975:Y601F	ENSP00000427975:Y601F	Y	+	2	0	RANBP17	170530832	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.942000	0.56614	2.333000	0.79357	0.482000	0.46254	TAC		PASS	0.303	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		24	67	24	67	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7575021	7575021	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr6:7575021G>A	ENST00000379802.3	+	17	2770	c.2429G>A	c.(2428-2430)gGa>gAa	p.G810E	DSP_ENST00000418664.2_Missense_Mutation_p.G810E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	810	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G810E(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACCGCTGTGGACTGAAGGTA	0.438																																						uc003mxp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(6)|ovary(2)|skin(1)	9						c.(2428-2430)GGA>GAA		desmoplakin isoform I							84.0	81.0	82.0					6																	7575021		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7575021G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2429G>A	6.37:g.7575021G>A	ENSP00000369129:p.Gly810Glu					DSP_uc003mxq.1_Missense_Mutation_p.G810E	p.G810E	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	17	2708	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	810			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.2429G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639276	0.29157	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.80480	-1.38;-1.38	5.82	5.82	0.92795	.	0.207171	0.33834	N	0.004508	T	0.34250	0.0891	N	0.01874	-0.695	0.38714	D	0.95328	P;P	0.34462	0.454;0.454	B;B	0.27887	0.084;0.084	T	0.58120	-0.7692	10	0.02654	T	1	.	15.5653	0.76287	0.0:0.1371:0.8628:0.0	.	857;810	Q4LE79;P15924	.;DESP_HUMAN	E	810;810;615	ENSP00000369129:G810E;ENSP00000396591:G810E	ENSP00000369129:G810E	G	+	2	0	DSP	7520020	0.999000	0.42202	0.998000	0.56505	0.991000	0.79684	5.565000	0.67365	2.752000	0.94435	0.655000	0.94253	GGA		PASS	0.438	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		10	71	10	71	---	---	---	---
HIST1H2AG	8969	broad.mit.edu	37	6	27101012	27101012	+	Silent	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr6:27101012G>A	ENST00000359193.2	+	1	181	c.162G>A	c.(160-162)gcG>gcA	p.A54A	HIST1H2BJ_ENST00000607124.1_5'Flank|HIST1H2BJ_ENST00000541790.1_5'Flank|HIST1H2BJ_ENST00000339812.2_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	54						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.A54A(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						ATCTGGCAGCGGTGCTGGAGT	0.687																																						uc003niw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(160-162)GCG>GCA		histone cluster 1, H2ag							45.0	49.0	48.0					6																	27101012		2203	4300	6503	SO:0001819	synonymous_variant	8969				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27101012G>A	L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"""Histones / Replication-dependent"""	4737	protein-coding gene	gene with protein product		615012	"""H2A histone family, member P"", ""histone 1, H2ag"""	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.162G>A	6.37:g.27101012G>A						HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	p.A54A	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN			1	196	+			54					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000359193.2	37	c.162G>A	CCDS4619.1																																																																																				PASS	0.687	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040137.1	NM_021064		10	51	10	51	---	---	---	---
ZSCAN31	64288	broad.mit.edu	37	6	28294228	28294228	+	Silent	SNP	T	T	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr6:28294228T>A	ENST00000414429.1	-	8	1839	c.936A>T	c.(934-936)cgA>cgT	p.R312R	ZSCAN31_ENST00000396838.2_Silent_p.R312R|ZSCAN31_ENST00000344279.6_Silent_p.R312R|ZSCAN31_ENST00000446474.1_Silent_p.R153R|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000439158.1_Silent_p.R312R			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	312					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.R312R(1)									TTCTTCTGTGTCGAGTGAGGC	0.502																																						uc003nla.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(934-936)CGA>CGT		zinc finger protein 323							150.0	145.0	147.0					6																	28294228		2203	4300	6503	SO:0001819	synonymous_variant	64288				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28294228T>A		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.936A>T	6.37:g.28294228T>A						ZNF323_uc003nld.2_Silent_p.R312R|ZNF323_uc010jra.2_Silent_p.R312R|ZNF323_uc003nlb.2_Silent_p.R153R|ZNF323_uc010jrb.2_Silent_p.R153R|ZNF323_uc003nlc.2_Silent_p.R312R	p.R312R	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN			4	1336	-			312			C2H2-type 3.		Q6P178|Q8WWS5	Silent	SNP	ENST00000414429.1	37	c.936A>T	CCDS4649.1																																																																																				PASS	0.502	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		33	164	33	164	---	---	---	---
MSH5	4439	broad.mit.edu	37	6	31721345	31721345	+	Splice_Site	SNP	T	T	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr6:31721345T>G	ENST00000375755.3	+	12	1239	c.953T>G	c.(952-954)cTg>cGg	p.L318R	MSH5_ENST00000375703.3_Splice_Site_p.L318R|MSH5_ENST00000431848.2_Splice_Site_p.L17R|MSH5_ENST00000534153.4_Splice_Site_p.L335R|MSH5_ENST00000375750.3_Splice_Site_p.L318R|MSH5-SAPCD1_ENST00000493662.2_Splice_Site_p.L335R|MSH5_ENST00000375742.3_Splice_Site_p.L335R|MSH5_ENST00000375740.3_Splice_Site_p.L335R	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	318					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.L335R(1)|p.L318R(1)		breast(1)|ovary(2)|skin(2)	5						TGACTGTAGCTGATTCTGAAA	0.512								Direct reversal of damage;Mismatch excision repair (MMR)																														uc003nwv.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(952-954)CTG>CGG	Direct_reversal_of_damage|MMR	mutS homolog 5 isoform c							127.0	118.0	121.0					6																	31721345		2203	4300	6503	SO:0001630	splice_region_variant	4439				chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr6:31721345T>G	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.952-1T>G	6.37:g.31721345T>G						MSH5_uc003nwt.1_Missense_Mutation_p.L335R|MSH5_uc003nwu.1_Missense_Mutation_p.L318R|MSH5_uc003nww.1_Missense_Mutation_p.L318R|MSH5_uc003nwx.1_Missense_Mutation_p.L335R|MSH5_uc011dof.1_Missense_Mutation_p.L17R|MSH5_uc003nwy.1_5'Flank	p.L318R	NM_172166	NP_751898	O43196	MSH5_HUMAN			12	1032	+			318					B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	c.953T>G	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.897807	0.33535	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000450148;ENST00000431848	D;D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.04	5.04	0.67666	DNA mismatch repair protein MutS, core (3);	0.519755	0.18332	N	0.144453	T	0.46367	0.1389	N	0.02802	-0.49	0.43080	D	0.994738	B;B;B;B	0.13145	0.004;0.005;0.0;0.007	B;B;B;B	0.17722	0.012;0.007;0.002;0.019	T	0.24225	-1.0166	9	0.08381	T	0.77	-8.0857	11.1974	0.48722	0.0:0.0:0.0:1.0	.	335;318;318;335	O43196-4;O43196;O43196-2;O43196-3	.;MSH5_HUMAN;.;.	R	318;335;318;335;318;335;155;17	ENSP00000364908:L318R;ENSP00000364894:L335R;ENSP00000364903:L318R;ENSP00000431693:L335R;ENSP00000364855:L318R;ENSP00000364892:L335R;ENSP00000394971:L155R;ENSP00000416784:L17R	ENSP00000364855:L318R	L	+	2	0	MSH5	31829324	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.415000	0.59809	1.885000	0.54596	0.379000	0.24179	CTG		PASS	0.512	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4		Missense_Mutation	9	55	9	55	---	---	---	---
SYNGAP1	8831	broad.mit.edu	37	6	33405912	33405912	+	Silent	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr6:33405912C>T	ENST00000418600.2	+	8	1331	c.1230C>T	c.(1228-1230)agC>agT	p.S410S	MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000428982.2_Silent_p.S351S|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Silent_p.S410S	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	410					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.S410S(1)|p.S395S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						AGACAATGAGCATCTTGCCCA	0.577																																						uc011dri.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(1228-1230)AGC>AGT		synaptic Ras GTPase activating protein 1							128.0	132.0	131.0					6																	33405912		2202	4300	6502	SO:0001819	synonymous_variant	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33405912C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1230C>T	6.37:g.33405912C>T						SYNGAP1_uc003oeo.1_Silent_p.S395S|SYNGAP1_uc010juy.2_Silent_p.S395S|SYNGAP1_uc010juz.2_Silent_p.S122S	p.S410S	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			8	1425	+			410					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	ENST00000418600.2	37	c.1230C>T	CCDS34434.2																																																																																				PASS	0.577	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		20	169	20	169	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38843455	38843455	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr6:38843455G>T	ENST00000359357.3	+	51	7312	c.7058G>T	c.(7057-7059)gGc>gTc	p.G2353V	DNAH8_ENST00000449981.2_Missense_Mutation_p.G2570V|DNAH8_ENST00000441566.1_Missense_Mutation_p.G2317V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2353					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.G2353V(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						TTTGTGTTTGGCCTAATGTGG	0.408																																						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.(7057-7059)GGC>GTC		dynein, axonemal, heavy polypeptide 8							95.0	92.0	93.0					6																	38843455		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38843455G>T	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.7058G>T	6.37:g.38843455G>T	ENSP00000352312:p.Gly2353Val						p.G2353V	NM_001371	NP_001362					51	7658	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.7058G>T		.	.	.	.	.	.	.	.	.	.	G	11.52	1.662060	0.29515	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.16897	2.31;2.31;2.31	5.62	3.83	0.44106	.	0.378696	0.28859	N	0.013916	T	0.08133	0.0203	L	0.38531	1.155	0.54753	D	0.999985	B	0.12630	0.006	B	0.09377	0.004	T	0.05354	-1.0890	10	0.66056	D	0.02	.	17.7433	0.88413	0.0:0.5314:0.4686:0.0	.	2353	Q96JB1	DYH8_HUMAN	V	2558;2558;2353;2317	ENSP00000333363:G2558V;ENSP00000352312:G2353V;ENSP00000402294:G2317V	ENSP00000333363:G2558V	G	+	2	0	DNAH8	38951433	0.453000	0.25721	0.965000	0.40720	0.874000	0.50279	0.938000	0.28965	0.706000	0.31912	-0.211000	0.12701	GGC		PASS	0.408	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		6	83	6	83	---	---	---	---
DAAM2	23500	broad.mit.edu	37	6	39835505	39835505	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr6:39835505G>T	ENST00000398904.2	+	6	830	c.648G>T	c.(646-648)aaG>aaT	p.K216N	DAAM2_ENST00000538976.1_Missense_Mutation_p.K216N|DAAM2_ENST00000274867.4_Missense_Mutation_p.K216N			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	216	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.K216N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCAAGACCAAGGTGGCTGTGC	0.592																																						uc003oow.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(646-648)AAG>AAT		dishevelled associated activator of							41.0	44.0	43.0					6																	39835505		2194	4291	6485	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39835505G>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.648G>T	6.37:g.39835505G>T	ENSP00000381876:p.Lys216Asn					DAAM2_uc010jxc.2_Missense_Mutation_p.K216N|DAAM2_uc003oox.2_Missense_Mutation_p.K216N	p.K216N	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			6	804	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		216			GBD/FH3.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.648G>T	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829859	0.71258	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.88124	-2.34;-2.34;-2.34	5.52	1.73	0.24493	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	M	0.89601	3.045	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	D	0.90435	0.4427	10	0.72032	D	0.01	.	8.8782	0.35358	0.3573:0.0:0.6427:0.0	.	216;216	G5EA45;Q86T65	.;DAAM2_HUMAN	N	216	ENSP00000274867:K216N;ENSP00000381876:K216N;ENSP00000437808:K216N	ENSP00000274867:K216N	K	+	3	2	DAAM2	39943483	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.759000	0.47573	0.027000	0.15297	0.561000	0.74099	AAG		PASS	0.592	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			8	29	8	29	---	---	---	---
FAM135A	57579	broad.mit.edu	37	6	71185225	71185225	+	Silent	SNP	A	A	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr6:71185225A>G	ENST00000418814.2	+	6	884	c.270A>G	c.(268-270)aaA>aaG	p.K90K	FAM135A_ENST00000505868.1_Silent_p.K90K|FAM135A_ENST00000370479.3_Silent_p.K47K|FAM135A_ENST00000505769.1_Silent_p.K90K|FAM135A_ENST00000361499.3_Silent_p.K90K|FAM135A_ENST00000457062.2_Silent_p.K47K	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	90								p.K47K(1)|p.K90K(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TGATCTTCAAAGTAAAAATGC	0.269																																						uc003pfj.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(268-270)AAA>AAG		hypothetical protein LOC57579 isoform c							41.0	43.0	43.0					6																	71185225		2199	4277	6476	SO:0001819	synonymous_variant	57579							g.chr6:71185225A>G	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.270A>G	6.37:g.71185225A>G						FAM135A_uc003pfi.2_Silent_p.K90K|FAM135A_uc003pfh.2_Silent_p.K47K|FAM135A_uc003pfk.2_Silent_p.K90K|FAM135A_uc003pfl.2_5'UTR	p.K90K	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN			4	403	+			90					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Silent	SNP	ENST00000418814.2	37	c.270A>G	CCDS55028.1																																																																																				PASS	0.269	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		3	29	3	29	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90460071	90460071	+	Splice_Site	SNP	A	A	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr6:90460071A>G	ENST00000369393.3	-	24	3522		c.e24+1		MDN1_ENST00000428876.1_Splice_Site			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)						ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.?(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCTTAACCCTACCTTCCTTAA	0.403																																						uc003pnn.1																			1	Unknown(1)		lung(1)	ovary(8)|skin(2)	10						c.e24+1		MDN1, midasin homolog							148.0	127.0	134.0					6																	90460071		2203	4300	6503	SO:0001630	splice_region_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90460071A>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.3406+1T>C	6.37:g.90460071A>G							p.G1136_splice	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	24	3522	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)						O15019|Q5T794	Splice_Site	SNP	ENST00000369393.3	37	c.3406_splice	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.324771	0.60634	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7669	0.78135	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MDN1	90516792	1.000000	0.71417	0.996000	0.52242	0.459000	0.32528	6.774000	0.75012	2.130000	0.65690	0.402000	0.26972	.		PASS	0.403	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		Intron	12	108	12	108	---	---	---	---
FIG4	9896	broad.mit.edu	37	6	110059612	110059612	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr6:110059612G>A	ENST00000230124.3	+	7	855	c.731G>A	c.(730-732)cGt>cAt	p.R244H	FIG4_ENST00000441478.2_Intron|FIG4_ENST00000368941.1_Intron	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	244	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.R244H(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		ACTGTGCATCGTGACTGGCTT	0.333																																						uc003ptt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(730-732)CGT>CAT		Sac domain-containing inositol phosphatase 3							153.0	154.0	154.0					6																	110059612		2203	4299	6502	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110059612G>A	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.731G>A	6.37:g.110059612G>A	ENSP00000230124:p.Arg244His					FIG4_uc011eau.1_Intron	p.R244H	NM_014845	NP_055660	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	7	946	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	244			SAC.		Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.731G>A	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183886	0.38609	.	.	ENSG00000112367	ENST00000230124;ENST00000454215	T;T	0.56941	0.43;0.43	5.67	2.94	0.34122	Synaptojanin, N-terminal (2);	0.429330	0.26804	N	0.022407	T	0.13970	0.0338	N	0.04746	-0.17	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.04440	-1.0951	10	0.34782	T	0.22	-3.9874	10.3077	0.43691	0.2706:0.0:0.7294:0.0	.	244	Q92562	FIG4_HUMAN	H	244;223	ENSP00000230124:R244H;ENSP00000412156:R223H	ENSP00000230124:R244H	R	+	2	0	FIG4	110166305	0.914000	0.31030	1.000000	0.80357	0.991000	0.79684	0.478000	0.22212	0.751000	0.32900	0.655000	0.94253	CGT		PASS	0.333	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		17	97	17	97	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117631403	117631403	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr6:117631403T>C	ENST00000368508.3	-	40	6473	c.6275A>G	c.(6274-6276)tAt>tGt	p.Y2092C	ROS1_ENST00000368507.3_Missense_Mutation_p.Y2086C	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2092	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.Y2092C(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)		TGGACTGGTATAGTCTTTCAC	0.388			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.(6274-6276)TAT>TGT		proto-oncogene c-ros-1 protein precursor							95.0	98.0	97.0					6																	117631403		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.chr6:117631403T>C	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.6275A>G	6.37:g.117631403T>C	ENSP00000357494:p.Tyr2092Cys					ROS1_uc011ebi.1_RNA	p.Y2092C	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)	40	6474	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2092			Protein kinase.|Cytoplasmic (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.6275A>G	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	t	17.54	3.415997	0.62511	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.72282	-0.64;-0.64	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000022	T	0.74397	0.3711	L	0.43152	1.355	0.43693	D	0.996144	D	0.89917	1.0	D	0.91635	0.999	T	0.77778	-0.2460	10	0.62326	D	0.03	.	15.1577	0.72755	0.0:0.0:0.0:1.0	.	2092	P08922	ROS1_HUMAN	C	2092;2086	ENSP00000357494:Y2092C;ENSP00000357493:Y2086C	ENSP00000357493:Y2086C	Y	-	2	0	ROS1	117738096	1.000000	0.71417	0.990000	0.47175	0.896000	0.52359	4.243000	0.58721	2.232000	0.73038	0.533000	0.62120	TAT		PASS	0.388	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			22	119	22	119	---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123539799	123539799	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr6:123539799C>T	ENST00000398178.3	-	41	2158	c.2137G>A	c.(2137-2139)Gga>Aga	p.G713R	TRDN_ENST00000334268.4_Missense_Mutation_p.G705R	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	713					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.G713R(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GAGCTCTCTCCAGGGCGGTCT	0.448																																						uc003pzj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2137-2139)GGA>AGA		triadin							106.0	98.0	101.0					6																	123539799		1885	4115	6000	SO:0001583	missense	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123539799C>T	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.2137G>A	6.37:g.123539799C>T	ENSP00000381240:p.Gly713Arg					TRDN_uc010kem.1_Missense_Mutation_p.G214R	p.G713R	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	41	2159	-			713			Lumenal.		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	c.2137G>A	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254303	0.39896	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.26067	1.77;1.76	4.94	2.97	0.34412	.	0.421653	0.17614	N	0.167963	T	0.06781	0.0173	L	0.27053	0.805	0.22701	N	0.998834	B	0.32968	0.392	B	0.33042	0.157	T	0.15321	-1.0441	10	0.72032	D	0.01	-5.0437	5.9295	0.19130	0.0:0.6386:0.2526:0.1088	.	713	Q13061	TRDN_HUMAN	R	713;715;705	ENSP00000381240:G713R;ENSP00000333984:G705R	ENSP00000333984:G705R	G	-	1	0	TRDN	123581498	0.880000	0.30214	0.858000	0.33744	0.249000	0.25844	0.669000	0.25142	1.190000	0.43042	0.655000	0.94253	GGA		PASS	0.448	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				5	36	5	36	---	---	---	---
L3MBTL3	84456	broad.mit.edu	37	6	130381241	130381241	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr6:130381241G>T	ENST00000529410.1	+	12	1299	c.820G>T	c.(820-822)Gat>Tat	p.D274Y	L3MBTL3_ENST00000368139.2_Missense_Mutation_p.D249Y|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.D249Y|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.D274Y|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.D274Y|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.D249Y			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	274					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.D274Y(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AGAAGGCGTGGATCCTGAGCA	0.393																																						uc003qbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(820-822)GAT>TAT		l(3)mbt-like 3 isoform a							133.0	119.0	124.0					6																	130381241		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130381241G>T	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.820G>T	6.37:g.130381241G>T	ENSP00000431962:p.Asp274Tyr					L3MBTL3_uc003qbu.2_Missense_Mutation_p.D249Y	p.D274Y	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	10	990	+			274			MBT 1.		Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.820G>T	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682404	0.68157	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.79511	0.4458	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85189	0.1008	10	0.66056	D	0.02	.	19.2567	0.93948	0.0:0.0:1.0:0.0	.	249;274	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	Y	274;249;274;249;249;274	ENSP00000431962:D274Y;ENSP00000437185:D249Y;ENSP00000354526:D274Y;ENSP00000357121:D249Y;ENSP00000436706:D249Y;ENSP00000357118:D274Y	ENSP00000354526:D274Y	D	+	1	0	L3MBTL3	130422934	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	8.799000	0.91895	2.625000	0.88918	0.455000	0.32223	GAT		PASS	0.393	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		6	51	6	51	---	---	---	---
CCDC170	80129	broad.mit.edu	37	6	151939235	151939235	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr6:151939235A>G	ENST00000239374.7	+	11	2200	c.2101A>G	c.(2101-2103)Act>Gct	p.T701A	RNU6-813P_ENST00000384691.1_RNA|CCDC170_ENST00000367290.5_Missense_Mutation_p.T708A	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	701								p.T701A(1)									AGATGTGACTACTGGGCAAGA	0.448																																						uc003qol.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2101-2103)ACT>GCT		hypothetical protein LOC80129							101.0	98.0	99.0					6																	151939235		1981	4159	6140	SO:0001583	missense	80129							g.chr6:151939235A>G	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.2101A>G	6.37:g.151939235A>G	ENSP00000239374:p.Thr701Ala						p.T701A	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	11	2190	+		Ovarian(120;0.126)	701					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.2101A>G	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	A	1.531	-0.544292	0.04024	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.08282	3.12;3.11	5.96	-11.9	0.00025	.	1.572770	0.03085	N	0.159018	T	0.00496	0.0016	N	0.04043	-0.29	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.42616	-0.9441	10	0.05959	T	0.93	2.3236	1.3207	0.02116	0.2345:0.3064:0.2523:0.2068	.	701	Q8IYT3	CF097_HUMAN	A	701;708	ENSP00000239374:T701A;ENSP00000356259:T708A	ENSP00000239374:T701A	T	+	1	0	C6orf97	151980928	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.476000	0.02333	-3.370000	0.00177	-2.829000	0.00107	ACT		PASS	0.448	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		9	77	9	77	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152541993	152541993	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr6:152541993C>A	ENST00000367255.5	-	119	22446	c.21845G>T	c.(21844-21846)tGg>tTg	p.W7282L	SYNE1_ENST00000356820.4_Missense_Mutation_p.W1806L|SYNE1_ENST00000341594.5_Missense_Mutation_p.W6894L|SYNE1_ENST00000265368.4_Missense_Mutation_p.W7282L|SYNE1_ENST00000423061.1_Missense_Mutation_p.W7211L|SYNE1_ENST00000448038.1_Missense_Mutation_p.W7211L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7282					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.W7282L(2)|p.W7211L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCTTGAATCCATGTGGCAAC	0.473										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(21844-21846)TGG>TTG		spectrin repeat containing, nuclear envelope 1							304.0	235.0	259.0					6																	152541993		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152541993C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.21845G>T	6.37:g.152541993C>A	ENSP00000356224:p.Trp7282Leu	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.W1806L|SYNE1_uc003qos.3_Missense_Mutation_p.W1806L|SYNE1_uc003qot.3_Missense_Mutation_p.W7211L|SYNE1_uc003qou.3_Missense_Mutation_p.W7282L|SYNE1_uc003qor.3_Missense_Mutation_p.W182L	p.W7282L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	119	22447	-		Ovarian(120;0.0955)	7282			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.21845G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482040	0.63849	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T	0.52295	0.76;0.75;0.67;0.75;0.89;2.77;1.85	5.62	5.62	0.85841	.	0.000000	0.56097	D	0.000027	T	0.64283	0.2584	M	0.72894	2.215	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.60100	-0.7329	10	0.41790	T	0.15	.	20.0205	0.97499	0.0:1.0:0.0:0.0	.	7282;7282;7211;7211	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	L	7282;7211;7282;7211;6894;1806;204	ENSP00000356224:W7282L;ENSP00000396024:W7211L;ENSP00000265368:W7282L;ENSP00000390975:W7211L;ENSP00000341887:W6894L;ENSP00000349276:W1806L;ENSP00000356220:W204L	ENSP00000265368:W7282L	W	-	2	0	SYNE1	152583686	1.000000	0.71417	0.998000	0.56505	0.676000	0.39594	5.953000	0.70290	2.801000	0.96364	0.650000	0.86243	TGG		PASS	0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		19	173	19	173	---	---	---	---
C6orf118	168090	broad.mit.edu	37	6	165715151	165715151	+	Silent	SNP	A	A	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr6:165715151A>G	ENST00000230301.8	-	2	680	c.660T>C	c.(658-660)cgT>cgC	p.R220R	C6orf118_ENST00000543069.1_Silent_p.R116R	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	220								p.R220R(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCTTCTGGAAACGCAGGAACA	0.617																																						uc003qum.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(658-660)CGT>CGC		hypothetical protein LOC168090							74.0	73.0	73.0					6																	165715151		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165715151A>G		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.660T>C	6.37:g.165715151A>G						C6orf118_uc011egi.1_RNA	p.R220R	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	696	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	220					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.660T>C	CCDS5288.1																																																																																				PASS	0.617	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		5	80	5	80	---	---	---	---
ZNRF2	223082	broad.mit.edu	37	7	30329469	30329469	+	Intron	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr7:30329469G>T	ENST00000323037.4	+	1	1520				MIR550A1_ENST00000385037.1_RNA	NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2							cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(2)|prostate(1)	5						TTGTAAGATAGTGTCTTACTC	0.478																																						hsa-mir-550-1|MI0003600																			0					0															152.0	132.0	138.0					7																	30329469		1568	3582	5150	SO:0001627	intron_variant	693133							g.chr7:30329469G>T	AF513707	CCDS5426.1	7p15.1	2013-01-09			ENSG00000180233	ENSG00000180233		"""RING-type (C3HC4) zinc fingers"""	22316	protein-coding gene	gene with protein product		612061					Standard	NM_147128		Approved	RNF202	uc003tat.3	Q8NHG8	OTTHUMG00000097759	ENST00000323037.4:c.469+4027G>T	7.37:g.30329469G>T						ZNRF2_uc003tat.2_Intron										+									RNA	SNP	ENST00000323037.4	37	c.60G>T	CCDS5426.1																																																																																				PASS	0.478	ZNRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214992.1	NM_147128		8	130	8	130	---	---	---	---
RABGEF1	27342	broad.mit.edu	37	7	66273905	66273905	+	Silent	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr7:66273905C>T	ENST00000284957.5	+	9	1187	c.1110C>T	c.(1108-1110)gaC>gaT	p.D370D	RABGEF1_ENST00000450873.2_Silent_p.D370D|KCTD7_ENST00000380828.2_Silent_p.D410D|RABGEF1_ENST00000437078.2_Silent_p.D384D|KCTD7_ENST00000510829.2_Silent_p.D370D|RABGEF1_ENST00000439720.2_Silent_p.D383D|GTF2IRD1P1_ENST00000457166.1_RNA|KCTD7_ENST00000451741.2_Silent_p.D370D|RABGEF1_ENST00000484547.2_3'UTR			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	587					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)	p.D370D(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						AGAAGCTAGACGCCCAGTCTT	0.448																																						uc011kee.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1150-1152)GAC>GAT		RAB guanine nucleotide exchange factor (GEF) 1							97.0	91.0	93.0					7																	66273905		2203	4300	6503	SO:0001819	synonymous_variant	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66273905C>T	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.1110C>T	7.37:g.66273905C>T						RABGEF1_uc003tvf.2_Silent_p.D243D|RABGEF1_uc003tvg.2_Silent_p.D178D|RABGEF1_uc010lag.2_Silent_p.D370D|RABGEF1_uc003tvh.2_Silent_p.D370D|RABGEF1_uc003tvi.2_Silent_p.D204D	p.D384D	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			9	1316	+			587			VPS9.		B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Silent	SNP	ENST00000284957.5	37	c.1152C>T	CCDS5535.1																																																																																				PASS	0.448	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		9	70	9	70	---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	71175784	71175784	+	Silent	SNP	T	T	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr7:71175784T>G	ENST00000333538.5	+	10	2173	c.1539T>G	c.(1537-1539)ggT>ggG	p.G513G	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	513	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G513G(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGCACTTGGGTGCCCTGGGGA	0.622																																						uc003tvy.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(1537-1539)GGT>GGG		UDP-GalNAc:polypeptide							94.0	87.0	89.0					7																	71175784		2203	4300	6503	SO:0001819	synonymous_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71175784T>G	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1539T>G	7.37:g.71175784T>G						WBSCR17_uc003tvz.2_Silent_p.G212G	p.G513G	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			10	1539	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	513			Ricin B-type lectin.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	c.1539T>G	CCDS5540.1																																																																																				PASS	0.622	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		10	115	10	115	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88956697	88956697	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr7:88956697G>A	ENST00000333190.4	+	3	898	c.289G>A	c.(289-291)Gta>Ata	p.V97I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	97							metal ion binding (GO:0046872)	p.V97I(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGCTCGAAATGTAGCTTCTAA	0.328										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(289-291)GTA>ATA		zinc finger protein 804B							84.0	87.0	86.0					7																	88956697		2202	4299	6501	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88956697G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.289G>A	7.37:g.88956697G>A	ENSP00000329638:p.Val97Ile	HNSCC(36;0.09)					p.V97I	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		3	827	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		97					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.289G>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313826	0.95655	.	.	ENSG00000182348	ENST00000333190	T	0.20069	2.1	5.04	5.04	0.67666	.	0.000000	0.53938	D	0.000054	T	0.50309	0.1608	M	0.78049	2.395	0.51767	D	0.999936	D	0.76494	0.999	D	0.85130	0.997	T	0.52779	-0.8530	10	0.72032	D	0.01	-14.5136	18.9339	0.92577	0.0:0.0:1.0:0.0	.	97	A4D1E1	Z804B_HUMAN	I	97	ENSP00000329638:V97I	ENSP00000329638:V97I	V	+	1	0	ZNF804B	88794633	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.589000	0.98235	2.775000	0.95449	0.650000	0.86243	GTA		PASS	0.328	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		18	73	18	73	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88966152	88966152	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr7:88966152C>A	ENST00000333190.4	+	4	4465	c.3856C>A	c.(3856-3858)Ctg>Atg	p.L1286M		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1286							metal ion binding (GO:0046872)	p.L1286M(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACTTCAGCCTCTGCCCCCTAC	0.463										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3856-3858)CTG>ATG		zinc finger protein 804B							221.0	197.0	205.0					7																	88966152		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88966152C>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3856C>A	7.37:g.88966152C>A	ENSP00000329638:p.Leu1286Met	HNSCC(36;0.09)					p.L1286M	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4394	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1286					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3856C>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.373792	0.42105	.	.	ENSG00000182348	ENST00000333190	T	0.10477	2.87	5.29	1.28	0.21552	.	0.000000	0.47455	D	0.000228	T	0.25158	0.0611	M	0.72894	2.215	0.21627	N	0.999612	D	0.89917	1.0	D	0.76575	0.988	T	0.02173	-1.1201	10	0.66056	D	0.02	-6.5711	6.428	0.21780	0.1224:0.6063:0.0:0.2712	.	1286	A4D1E1	Z804B_HUMAN	M	1286	ENSP00000329638:L1286M	ENSP00000329638:L1286M	L	+	1	2	ZNF804B	88804088	0.039000	0.19947	0.984000	0.44739	0.893000	0.52053	0.247000	0.18179	0.392000	0.25172	0.655000	0.94253	CTG		PASS	0.463	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		12	225	12	225	---	---	---	---
ASNS	440	broad.mit.edu	37	7	97488644	97488644	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr7:97488644T>C	ENST00000394309.3	-	5	1025	c.554A>G	c.(553-555)tAt>tGt	p.Y185C	ASNS_ENST00000394308.3_Missense_Mutation_p.Y185C|ASNS_ENST00000444334.1_Missense_Mutation_p.Y164C|ASNS_ENST00000437628.1_Missense_Mutation_p.Y102C|ASNS_ENST00000175506.4_Missense_Mutation_p.Y185C|ASNS_ENST00000455086.1_Missense_Mutation_p.Y102C|ASNS_ENST00000422745.1_Missense_Mutation_p.Y164C	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	185	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)	p.Y185C(1)		ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CAAAACTTCATAGTGTCCAGG	0.403																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	uc003uot.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(553-555)TAT>TGT		asparagine synthetase	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						98.0	103.0	101.0					7																	97488644		2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97488644T>C	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.554A>G	7.37:g.97488644T>C	ENSP00000377846:p.Tyr185Cys					ASNS_uc011kin.1_Missense_Mutation_p.Y102C|ASNS_uc003uou.3_Missense_Mutation_p.Y185C|ASNS_uc003uov.3_Missense_Mutation_p.Y185C|ASNS_uc011kio.1_Missense_Mutation_p.Y164C|ASNS_uc003uow.3_Missense_Mutation_p.Y164C|ASNS_uc003uox.3_Missense_Mutation_p.Y102C	p.Y185C	NM_133436	NP_597680	P08243	ASNS_HUMAN			5	1060	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		185			Glutamine amidotransferase type-2.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.554A>G	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.071266	0.36566	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334;ENST00000442734	T;T;T;T;T;T;T;T	0.51071	0.75;0.75;0.72;0.75;0.74;0.72;0.74;0.79	4.46	4.46	0.54185	Glutamine amidotransferase, type II (1);	0.241230	0.42682	D	0.000670	T	0.44540	0.1298	L	0.60904	1.88	0.43091	D	0.994767	B	0.19200	0.034	B	0.14023	0.01	T	0.48210	-0.9055	10	0.72032	D	0.01	-14.0092	11.9674	0.53044	0.0:0.0:0.0:1.0	.	185	P08243	ASNS_HUMAN	C	185;185;102;185;164;102;164;185	ENSP00000175506:Y185C;ENSP00000377846:Y185C;ENSP00000414379:Y102C;ENSP00000377845:Y185C;ENSP00000414901:Y164C;ENSP00000408472:Y102C;ENSP00000406994:Y164C;ENSP00000400422:Y185C	ENSP00000175506:Y185C	Y	-	2	0	ASNS	97326580	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.458000	0.60095	1.791000	0.52520	0.459000	0.35465	TAT		PASS	0.403	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		80	95	80	95	---	---	---	---
ACTL6B	51412	broad.mit.edu	37	7	100246221	100246221	+	Silent	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr7:100246221C>T	ENST00000160382.5	-	7	733	c.627G>A	c.(625-627)gaG>gaA	p.E209E		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	209					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)	p.E209E(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CAATGGCCATCTCCTGGAACA	0.607																																						uc003uvy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(625-627)GAG>GAA		actin-like 6B							73.0	63.0	66.0					7																	100246221		2203	4300	6503	SO:0001819	synonymous_variant	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100246221C>T	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.627G>A	7.37:g.100246221C>T						ACTL6B_uc003uvx.1_5'UTR|ACTL6B_uc003uvz.2_RNA	p.E209E	NM_016188	NP_057272	O94805	ACL6B_HUMAN			7	734	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		209					A4D2D0|O75421	Silent	SNP	ENST00000160382.5	37	c.627G>A	CCDS5702.1																																																																																				PASS	0.607	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		4	24	4	24	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113518037	113518037	+	Nonsense_Mutation	SNP	G	G	T	rs145569602		TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr7:113518037G>T	ENST00000284601.3	-	4	3178	c.3110C>A	c.(3109-3111)tCa>tAa	p.S1037*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1037					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.S1037*(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGTGTATAGTGATTGCCCAGA	0.393																																						uc010ljy.1																			1	Substitution - Nonsense(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(3109-3111)TCA>TAA		protein phosphatase 1, regulatory (inhibitor)							200.0	196.0	197.0					7																	113518037		2203	4299	6502	SO:0001587	stop_gained	5506				glycogen metabolic process	integral to membrane		g.chr7:113518037G>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3110C>A	7.37:g.113518037G>T	ENSP00000284601:p.Ser1037*						p.S1037*	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	3141	-			1037					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	ENST00000284601.3	37	c.3110C>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684353	0.47991	.	.	ENSG00000154415	ENST00000284601	.	.	.	5.49	-2.67	0.06059	.	1.226290	0.05786	N	0.609491	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.285	1.5843	0.02641	0.3396:0.0961:0.3534:0.2109	.	.	.	.	X	1037	.	ENSP00000284601:S1037X	S	-	2	0	PPP1R3A	113305273	0.047000	0.20315	0.006000	0.13384	0.006000	0.05464	0.283000	0.18846	-0.198000	0.10333	-0.781000	0.03364	TCA		PASS	0.393	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		72	160	72	160	---	---	---	---
TNPO3	23534	broad.mit.edu	37	7	128640534	128640534	+	Silent	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr7:128640534G>A	ENST00000265388.5	-	7	1103	c.960C>T	c.(958-960)gaC>gaT	p.D320D	TNPO3_ENST00000471234.1_Silent_p.D320D|TNPO3_ENST00000482320.1_Silent_p.D254D|TNPO3_ENST00000471166.1_Silent_p.D320D|TNPO3_ENST00000393245.1_Silent_p.D320D			Q9Y5L0	TNPO3_HUMAN	transportin 3	320					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)	p.D320D(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GAGTTCGAAGGTCCCCAAGAC	0.428																																					Pancreas(147;583 2585 39696 52331)	uc003vol.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)|lung(1)	5						c.(958-960)GAC>GAT		transportin 3							84.0	90.0	88.0					7																	128640534		2203	4300	6503	SO:0001819	synonymous_variant	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128640534G>A	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.960C>T	7.37:g.128640534G>A						TNPO3_uc003vom.1_Silent_p.D254D|TNPO3_uc010lly.1_Silent_p.D320D|TNPO3_uc010llz.1_Silent_p.D320D	p.D320D	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN			7	1334	-			320					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Silent	SNP	ENST00000265388.5	37	c.960C>T	CCDS5809.1																																																																																				PASS	0.428	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		58	84	58	84	---	---	---	---
CHCHD3	54927	broad.mit.edu	37	7	132570425	132570425	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr7:132570425C>A	ENST00000262570.5	-	5	594	c.450G>T	c.(448-450)gaG>gaT	p.E150D	CHCHD3_ENST00000448878.1_Missense_Mutation_p.E155D|CHCHD3_ENST00000476546.1_5'UTR	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	150					inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)	p.E150D(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						GTCATACCCTCTCCTCCAGTC	0.353																																						uc003vre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(448-450)GAG>GAT		coiled-coil-helix-coiled-coil-helix domain							94.0	89.0	91.0					7																	132570425		2203	4300	6503	SO:0001583	missense	54927				inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold	g.chr7:132570425C>A	BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21906	protein-coding gene	gene with protein product	"""mitochondrial inner membrane organizing system 3"", ""protein phosphatase 1, regulatory subunit 22"""	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.450G>T	7.37:g.132570425C>A	ENSP00000262570:p.Glu150Asp					CHCHD3_uc010lmi.2_RNA|CHCHD3_uc003vrf.2_Missense_Mutation_p.E155D|CHCHD3_uc010lmj.2_Missense_Mutation_p.R13I	p.E150D	NM_017812	NP_060282	Q9NX63	CHCH3_HUMAN			5	586	-			150						Missense_Mutation	SNP	ENST00000262570.5	37	c.450G>T	CCDS5828.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368501	0.61513	.	.	ENSG00000106554	ENST00000262570;ENST00000448878	T;T	0.51574	0.7;0.7	5.7	0.802	0.18686	.	0.047630	0.85682	D	0.000000	T	0.56337	0.1978	M	0.76574	2.34	0.80722	D	1	P;P	0.46952	0.834;0.887	P;P	0.54060	0.487;0.741	T	0.54125	-0.8340	10	0.39692	T	0.17	-14.0041	10.0904	0.42443	0.0:0.5954:0.0:0.4046	.	155;150	C9JRZ6;Q9NX63	.;CHCH3_HUMAN	D	150;155	ENSP00000262570:E150D;ENSP00000389297:E155D	ENSP00000262570:E150D	E	-	3	2	CHCHD3	132220965	0.956000	0.32656	0.999000	0.59377	0.967000	0.64934	0.022000	0.13511	0.085000	0.17107	0.650000	0.86243	GAG		PASS	0.353	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338899.1	NM_017812		41	60	41	60	---	---	---	---
LRGUK	136332	broad.mit.edu	37	7	133812132	133812132	+	Silent	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr7:133812132C>G	ENST00000285928.2	+	1	81	c.12C>G	c.(10-12)tcC>tcG	p.S4S	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	4						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.S4S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TGGCGACCTCCGAGAGGGCTC	0.612																																						uc003vrm.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|kidney(1)	5						c.(10-12)TCC>TCG		leucine-rich repeats and guanylate kinase domain							79.0	86.0	84.0					7																	133812132		2203	4300	6503	SO:0001819	synonymous_variant	136332						ATP binding|kinase activity	g.chr7:133812132C>G	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.12C>G	7.37:g.133812132C>G							p.S4S	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			1	28	+			4					Q2M3I1	Silent	SNP	ENST00000285928.2	37	c.12C>G	CCDS5830.1																																																																																				PASS	0.612	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		6	120	6	120	---	---	---	---
ZNF746	155061	broad.mit.edu	37	7	149171603	149171603	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr7:149171603T>C	ENST00000340622.3	-	7	2087	c.1807A>G	c.(1807-1809)Acg>Gcg	p.T603A	ZNF746_ENST00000458143.2_Missense_Mutation_p.T604A			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	603					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.T603A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCGGGCGGCGTCGGGAGTGGC	0.662																																						uc003wfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1807-1809)ACG>GCG		zinc finger protein 746 isoform 2							29.0	28.0	28.0					7																	149171603		2199	4296	6495	SO:0001583	missense	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149171603T>C	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1807A>G	7.37:g.149171603T>C	ENSP00000345140:p.Thr603Ala					ZNF746_uc010lpi.2_Missense_Mutation_p.T604A	p.T603A	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		7	2078	-	Melanoma(164;0.165)		603					A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	37	c.1807A>G	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	T	0.155	-1.086823	0.01873	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.07688	3.2;3.17	5.58	3.64	0.41730	.	0.904543	0.09089	N	0.850089	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.40346	-0.9568	10	0.21540	T	0.41	-7.8032	9.889	0.41279	0.0:0.1445:0.693:0.1625	.	604;603	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	A	603;604	ENSP00000345140:T603A;ENSP00000395007:T604A	ENSP00000345140:T603A	T	-	1	0	ZNF746	148802536	1.000000	0.71417	0.194000	0.23346	0.574000	0.36063	5.107000	0.64603	1.332000	0.45431	-0.648000	0.03929	ACG		PASS	0.662	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		9	8	9	8	---	---	---	---
CHRNB3	1142	broad.mit.edu	37	8	42591652	42591652	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr8:42591652C>T	ENST00000289957.2	+	6	1396	c.1268C>T	c.(1267-1269)gCt>gTt	p.A423V		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	423					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)	p.A423V(1)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	AAATTTGTAGCTCAAGTTCTT	0.408																																						uc003xpi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1267-1269)GCT>GTT		cholinergic receptor, nicotinic, beta							232.0	219.0	224.0					8																	42591652		2203	4300	6503	SO:0001583	missense	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42591652C>T	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.1268C>T	8.37:g.42591652C>T	ENSP00000289957:p.Ala423Val						p.A423V	NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		6	1396	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	423			Cytoplasmic (Potential).		Q15827	Missense_Mutation	SNP	ENST00000289957.2	37	c.1268C>T	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	c	35	5.473986	0.96291	.	.	ENSG00000147432	ENST00000289957	T	0.75821	-0.97	5.24	5.24	0.73138	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90807	0.7113	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93248	0.6632	10	0.87932	D	0	.	19.2584	0.93957	0.0:1.0:0.0:0.0	.	423	Q05901	ACHB3_HUMAN	V	423	ENSP00000289957:A423V	ENSP00000289957:A423V	A	+	2	0	CHRNB3	42710809	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.776000	0.85560	2.627000	0.88993	0.460000	0.39030	GCT		PASS	0.408	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			32	173	32	173	---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43147635	43147635	+	RNA	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr8:43147635C>T	ENST00000522175.2	+	0	10							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.A3V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGATGGTGGCTGAGGTTTCT	0.537																																						uc003xpz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(7-9)GCT>GTT		POTE ankyrin domain family, member A isoform 2							39.0	40.0	40.0					8																	43147635		2166	4281	6447			340441							g.chr8:43147635C>T	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43147635C>T						POTEA_uc003xqa.1_Missense_Mutation_p.A3V	p.A3V	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			1	51	+			3					A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.8C>T																																																																																					PASS	0.537	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		11	42	11	42	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55542671	55542671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr8:55542671C>T	ENST00000220676.1	+	4	6377	c.6229C>T	c.(6229-6231)Cag>Tag	p.Q2077*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2077					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.Q2077*(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAACAGATTCCAGGGCTCAAG	0.363																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Nonsense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(6229-6231)CAG>TAG		retinitis pigmentosa RP1 protein							43.0	45.0	44.0					8																	55542671		2202	4297	6499	SO:0001587	stop_gained	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542671C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6229C>T	8.37:g.55542671C>T	ENSP00000220676:p.Gln2077*					RP1_uc011ldy.1_Intron	p.Q2077*	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	6377	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	2077						Nonsense_Mutation	SNP	ENST00000220676.1	37	c.6229C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	43	10.482443	0.99413	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.76	5.76	0.90799	.	0.129757	0.35096	N	0.003443	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1401	0.89637	0.0:1.0:0.0:0.0	.	.	.	.	X	2077	.	ENSP00000220676:Q2077X	Q	+	1	0	RP1	55705224	0.991000	0.36638	0.576000	0.28549	0.148000	0.21650	3.145000	0.50623	2.726000	0.93360	0.655000	0.94253	CAG		PASS	0.363	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		3	40	3	40	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77618877	77618877	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr8:77618877G>T	ENST00000521891.2	+	2	3002	c.2554G>T	c.(2554-2556)Gat>Tat	p.D852Y	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D852Y|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D852Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D852Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	852					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.D852Y(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)			ATTCCAGCTGGATCCAGCGAC	0.493										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2554-2556)GAT>TAT		zinc finger homeodomain 4							12.0	12.0	12.0					8																	77618877		1879	3933	5812	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618877G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2554G>T	8.37:g.77618877G>T	ENSP00000430497:p.Asp852Tyr	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.D852Y|ZFHX4_uc003yau.1_Missense_Mutation_p.D852Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.D852Y	p.D852Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2941	+			852					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2554G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306477	0.40795	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.54479	0.57;0.63;0.6;0.59	4.91	4.91	0.64330	.	0.000000	0.44285	U	0.000463	T	0.71995	0.3406	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.998;0.998;0.994	T	0.74532	-0.3634	10	0.72032	D	0.01	.	18.6385	0.91386	0.0:0.0:1.0:0.0	.	852;852;852;852	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	Y	852	ENSP00000430497:D852Y;ENSP00000399605:D852Y;ENSP00000050961:D852Y;ENSP00000430848:D852Y	ENSP00000050961:D852Y	D	+	1	0	ZFHX4	77781432	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	9.601000	0.98297	2.699000	0.92147	0.585000	0.79938	GAT		PASS	0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		16	10	16	10	---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95507087	95507087	+	Splice_Site	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr8:95507087C>G	ENST00000297591.5	-	20	4717		c.e20+1		KIAA1429_ENST00000437199.1_Splice_Site	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ATAATTTATACCAAATCCAGA	0.308																																						uc003ygo.1																			1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e20+1		hypothetical protein LOC25962 isoform 1							96.0	107.0	104.0					8																	95507087		2203	4300	6503	SO:0001630	splice_region_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95507087C>G	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4641+1G>C	8.37:g.95507087C>G						KIAA1429_uc010maz.1_Splice_Site	p.L1547_splice	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		20	4654	-	Breast(36;3.29e-05)							Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Splice_Site	SNP	ENST00000297591.5	37	c.4641_splice	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963326	0.74016	.	.	ENSG00000164944	ENST00000297591	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0186	0.92903	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1429	95576263	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.247000	0.78257	2.579000	0.87056	0.650000	0.86243	.		PASS	0.308	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	Intron	28	156	28	156	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113317078	113317078	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr8:113317078G>T	ENST00000297405.5	-	52	8382	c.8138C>A	c.(8137-8139)tCc>tAc	p.S2713Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.S2673Y|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2643Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2713	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S2673Y(1)|p.S2713Y(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						TTCATAATGGGAGCCATTCAC	0.403										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.(8137-8139)TCC>TAC		CUB and Sushi multiple domains 3 isoform 1							98.0	84.0	89.0					8																	113317078		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113317078G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8138C>A	8.37:g.113317078G>T	ENSP00000297405:p.Ser2713Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.S1915Y|CSMD3_uc003ynt.2_Missense_Mutation_p.S2673Y|CSMD3_uc011lhx.1_Intron	p.S2713Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			52	8297	-			2713			Extracellular (Potential).|Sushi 16.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8138C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212127	0.79240	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000352409	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.18	5.18	0.71444	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000005	T	0.80959	0.4724	M	0.80028	2.48	0.80722	D	1	D;P	0.76494	0.999;0.729	D;B	0.91635	0.999;0.236	T	0.82022	-0.0663	10	0.51188	T	0.08	.	19.0673	0.93116	0.0:0.0:1.0:0.0	.	2713;2673	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	Y	2673;2713;1983;2643	ENSP00000345799:S2673Y;ENSP00000297405:S2713Y;ENSP00000341558:S1983Y;ENSP00000343124:S2643Y	ENSP00000297405:S2713Y	S	-	2	0	CSMD3	113386254	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	7.785000	0.85724	2.547000	0.85894	0.655000	0.94253	TCC		PASS	0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	35	4	35	---	---	---	---
DMRT3	58524	broad.mit.edu	37	9	990301	990301	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr9:990301G>T	ENST00000190165.2	+	2	753	c.715G>T	c.(715-717)Gtt>Ttt	p.V239F		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	239					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V102F(1)|p.V239F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CTCGGGGACTGTTTCTCTGCC	0.562																																						uc003zgw.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(715-717)GTT>TTT		doublesex and mab-3 related transcription factor							56.0	63.0	60.0					9																	990301		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990301G>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.715G>T	9.37:g.990301G>T	ENSP00000190165:p.Val239Phe						p.V239F	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	753	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	239					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.715G>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	G	9.909	1.209009	0.22205	.	.	ENSG00000064218	ENST00000190165;ENST00000417254	T;T	0.38722	1.12;1.12	5.03	4.13	0.48395	.	0.066653	0.64402	D	0.000009	T	0.52008	0.1708	M	0.66939	2.045	0.47994	D	0.99956	D	0.65815	0.995	P	0.58721	0.844	T	0.53365	-0.8449	10	0.07482	T	0.82	-22.244	13.3663	0.60687	0.0763:0.0:0.9237:0.0	.	239	Q9NQL9	DMRT3_HUMAN	F	239;102	ENSP00000190165:V239F;ENSP00000387472:V102F	ENSP00000190165:V239F	V	+	1	0	DMRT3	980301	1.000000	0.71417	0.027000	0.17364	0.002000	0.02628	5.818000	0.69236	1.126000	0.42016	-0.259000	0.10710	GTT		PASS	0.562	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		9	88	9	88	---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16583008	16583008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr9:16583008G>A	ENST00000380672.4	-	4	463	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	BNC2_ENST00000471301.2_Nonsense_Mutation_p.Q27*|BNC2_ENST00000545497.1_Nonsense_Mutation_p.Q41*|BNC2_ENST00000380666.2_Nonsense_Mutation_p.Q136*|BNC2_ENST00000380667.2_Nonsense_Mutation_p.Q69*	NM_017637.5	NP_060107.3			basonuclin 2									p.Q136*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TGTTTACACTGATCACAAGTC	0.443																																						uc003zml.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(406-408)CAG>TAG		basonuclin 2							178.0	178.0	178.0					9																	16583008		2203	4300	6503	SO:0001587	stop_gained	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16583008G>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.406C>T	9.37:g.16583008G>A	ENSP00000370047:p.Gln136*					BNC2_uc011lmw.1_Nonsense_Mutation_p.Q41*|BNC2_uc003zmm.2_Nonsense_Mutation_p.Q94*|BNC2_uc003zmq.1_Nonsense_Mutation_p.Q150*|BNC2_uc003zmr.1_Nonsense_Mutation_p.Q173*|BNC2_uc003zmp.1_Nonsense_Mutation_p.Q164*|BNC2_uc010mij.1_Nonsense_Mutation_p.Q58*|BNC2_uc003zmu.1_RNA|BNC2_uc010mim.1_RNA|BNC2_uc010min.1_RNA|BNC2_uc003zmo.1_Nonsense_Mutation_p.Q58*|BNC2_uc003zms.1_RNA|BNC2_uc010mik.1_RNA|BNC2_uc010mil.1_RNA|BNC2_uc003zmt.1_RNA	p.Q136*	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	4	546	-			136						Nonsense_Mutation	SNP	ENST00000380672.4	37	c.406C>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771705	0.90108	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000380666;ENST00000540340;ENST00000451290	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.1427	20.1338	0.98010	0.0:0.0:1.0:0.0	.	.	.	.	X	136;93;173;164;69;41;136;136;59	.	ENSP00000370041:Q136X	Q	-	1	0	BNC2	16573008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.770000	0.95276	0.655000	0.94253	CAG		PASS	0.443	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		15	195	15	195	---	---	---	---
KLHL9	55958	broad.mit.edu	37	9	21333559	21333559	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr9:21333559C>T	ENST00000359039.4	-	1	1820	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	KLHL9_ENST00000537938.1_Missense_Mutation_p.E366K			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	434					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.E434K(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TAGTGGGGTTCACTCATTTTT	0.433																																						uc003zoy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1300-1302)GAA>AAA		kelch-like 9							177.0	163.0	168.0					9																	21333559		2203	4300	6503	SO:0001583	missense	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21333559C>T	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1300G>A	9.37:g.21333559C>T	ENSP00000351933:p.Glu434Lys					KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	p.E434K	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	1871	-			434			Kelch 3.		Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	c.1300G>A	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929531	0.52759	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.66460	-0.21;-0.21	5.16	5.16	0.70880	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	U	0.000000	T	0.57829	0.2080	L	0.38649	1.16	0.80722	D	1	P	0.42827	0.791	B	0.39339	0.297	T	0.57734	-0.7760	10	0.30854	T	0.27	.	16.5281	0.84336	0.0:1.0:0.0:0.0	.	434	Q9P2J3	KLHL9_HUMAN	K	434;366	ENSP00000351933:E434K;ENSP00000437733:E366K	ENSP00000351933:E434K	E	-	1	0	KLHL9	21323559	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.027000	0.57239	2.585000	0.87301	0.655000	0.94253	GAA		PASS	0.433	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		12	127	12	127	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79842344	79842344	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr9:79842344A>T	ENST00000360280.3	+	16	1655	c.1395A>T	c.(1393-1395)ttA>ttT	p.L465F	VPS13A_ENST00000376636.3_Missense_Mutation_p.L465F|VPS13A_ENST00000376634.4_Missense_Mutation_p.L465F|VPS13A_ENST00000357409.5_Missense_Mutation_p.L465F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	465					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.L465F(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						AAAAAGCTTTACTCTATGAAG	0.284																																						uc004akr.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(1393-1395)TTA>TTT		vacuolar protein sorting 13A isoform A							81.0	80.0	80.0					9																	79842344		2203	4299	6502	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79842344A>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1395A>T	9.37:g.79842344A>T	ENSP00000353422:p.Leu465Phe					VPS13A_uc004akp.3_Missense_Mutation_p.L465F|VPS13A_uc004akq.3_Missense_Mutation_p.L465F|VPS13A_uc004aks.2_Missense_Mutation_p.L465F	p.L465F	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			16	1655	+			465					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.1395A>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806731	0.50421	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.46063	1.05;0.88;0.96;1.05	5.52	0.553	0.17235	.	0.572547	0.16804	N	0.198851	T	0.37598	0.1009	L	0.51422	1.61	0.80722	D	1	B;P;P;P	0.47409	0.135;0.472;0.895;0.771	B;B;B;B	0.43783	0.071;0.189;0.431;0.431	T	0.18116	-1.0347	10	0.51188	T	0.08	.	10.2748	0.43504	0.5781:0.0:0.4219:0.0	.	465;465;465;465	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	F	465	ENSP00000365821:L465F;ENSP00000365823:L465F;ENSP00000353422:L465F;ENSP00000349985:L465F	ENSP00000349985:L465F	L	+	3	2	VPS13A	79032164	1.000000	0.71417	0.362000	0.25862	0.995000	0.86356	1.238000	0.32707	-0.073000	0.12842	0.455000	0.32223	TTA		PASS	0.284	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		4	38	4	38	---	---	---	---
C9orf153	389766	broad.mit.edu	37	9	88842793	88842793	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr9:88842793T>G	ENST00000376001.3	-	3	299	c.219A>C	c.(217-219)agA>agC	p.R73S	C9orf153_ENST00000469914.1_Intron|C9orf153_ENST00000339137.3_Missense_Mutation_p.R73S	NM_001276366.1	NP_001263295.1	Q5TBE3	CI153_HUMAN	chromosome 9 open reading frame 153	73								p.R73S(1)		breast(1)|lung(1)	2						GGAGATCTCCTCTCACATCAG	0.448																																						uc004aoo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(217-219)AGA>AGC		hypothetical protein LOC389766							200.0	161.0	174.0					9																	88842793		2203	4300	6503	SO:0001583	missense	389766							g.chr9:88842793T>G		CCDS35055.1, CCDS35055.2	9q22.1	2012-04-03			ENSG00000187753	ENSG00000187753			31456	protein-coding gene	gene with protein product							Standard	NM_001276366		Approved	bA507D14.1	uc031teh.1	Q5TBE3	OTTHUMG00000020134	ENST00000376001.3:c.219A>C	9.37:g.88842793T>G	ENSP00000365169:p.Arg73Ser					GOLM1_uc010mqd.1_Intron|C9orf153_uc004aon.2_Missense_Mutation_p.R73S	p.R73S	NM_001010907	NP_001010907	Q5TBE3	CI153_HUMAN			3	300	-			73					Q5TBE4	Missense_Mutation	SNP	ENST00000376001.3	37	c.219A>C	CCDS35055.1	.	.	.	.	.	.	.	.	.	.	T	9.430	1.085343	0.20390	.	.	ENSG00000187753	ENST00000339137;ENST00000376001	T;T	0.42900	0.96;0.96	4.01	-3.29	0.05017	.	1.425650	0.04110	N	0.314518	T	0.21387	0.0515	N	0.19112	0.55	0.09310	N	1	B;B	0.33044	0.395;0.244	B;B	0.28638	0.076;0.092	T	0.05903	-1.0857	10	0.35671	T	0.21	-0.0837	0.933	0.01339	0.1581:0.2932:0.163:0.3857	.	73;73	Q5TBE3;Q5TBE3-2	CI153_HUMAN;.	S	73	ENSP00000344865:R73S;ENSP00000365169:R73S	ENSP00000344865:R73S	R	-	3	2	C9orf153	88032613	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.338000	0.19858	-0.782000	0.04541	-0.250000	0.11733	AGA		PASS	0.448	C9orf153-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052913.1	NM_001010907		6	78	6	78	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107599762	107599762	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr9:107599762C>A	ENST00000374736.3	-	10	1535	c.1141G>T	c.(1141-1143)Ggg>Tgg	p.G381W		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	381					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.G381W(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGGATCTTCCCAACGAGCAGC	0.517																																						uc004bcl.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(1141-1143)GGG>TGG		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						73.0	70.0	71.0					9																	107599762		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107599762C>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1141G>T	9.37:g.107599762C>A	ENSP00000363868:p.Gly381Trp						p.G381W	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	10	1454	-			381			Extracellular.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.1141G>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177015	0.78564	.	.	ENSG00000165029	ENST00000374736	D	0.88354	-2.37	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.95746	0.8616	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96305	0.9224	10	0.87932	D	0	.	19.2827	0.94058	0.0:1.0:0.0:0.0	.	381	O95477	ABCA1_HUMAN	W	381	ENSP00000363868:G381W	ENSP00000363868:G381W	G	-	1	0	ABCA1	106639583	1.000000	0.71417	0.936000	0.37596	0.609000	0.37215	7.445000	0.80570	2.545000	0.85829	0.655000	0.94253	GGG		PASS	0.517	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		18	44	18	44	---	---	---	---
OR1J1	347168	broad.mit.edu	37	9	125239760	125239760	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr9:125239760C>G	ENST00000259357.2	-	1	475	c.446G>C	c.(445-447)tGg>tCg	p.W149S	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W149S(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AGCGATGACCCAGGACCCAGC	0.522																																						uc011lyu.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(445-447)TGG>TCG		olfactory receptor, family 1, subfamily J,							83.0	74.0	77.0					9																	125239760		2203	4300	6503	SO:0001583	missense	347168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125239760C>G	AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.446G>C	9.37:g.125239760C>G	ENSP00000259357:p.Trp149Ser					OR1J2_uc004bmj.1_Intron	p.W149S	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN			1	446	-			149			Helical; Name=4; (Potential).		A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	ENST00000259357.2	37	c.446G>C	CCDS35120.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.649855	0.29336	.	.	ENSG00000136834	ENST00000259357	T	0.59502	0.26	4.57	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.117692	0.39544	N	0.001321	T	0.75428	0.3848	H	0.98068	4.14	0.48632	D	0.999688	P	0.45634	0.863	P	0.47941	0.562	T	0.81504	-0.0903	10	0.87932	D	0	.	9.2644	0.37632	0.1645:0.6764:0.159:0.0	.	149	Q8NGS3	OR1J1_HUMAN	S	149	ENSP00000259357:W149S	ENSP00000259357:W149S	W	-	2	0	OR1J1	124279581	0.081000	0.21417	0.995000	0.50966	0.048000	0.14542	0.319000	0.19522	1.289000	0.44618	0.531000	0.56144	TGG		PASS	0.522	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1			6	33	6	33	---	---	---	---
NRARP	441478	broad.mit.edu	37	9	140196057	140196057	+	Silent	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr9:140196057C>T	ENST00000356628.2	-	1	646	c.324G>A	c.(322-324)aaG>aaA	p.K108K		NM_001004354.2	NP_001004354.1	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	108					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of Notch signaling pathway involved in somitogenesis (GO:1902367)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|patterning of blood vessels (GO:0001569)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of cell-cell adhesion (GO:0022407)|somite rostral/caudal axis specification (GO:0032525)			p.K108K(1)		lung(3)	3	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		TGGCCGCGTACTTCGCCTTGG	0.711																																						uc004cmo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(322-324)AAG>AAA		NOTCH-regulated ankyrin repeat protein							12.0	13.0	13.0					9																	140196057		2179	4285	6464	SO:0001819	synonymous_variant	441478				negative regulation of Notch signaling pathway|positive regulation of canonical Wnt receptor signaling pathway			g.chr9:140196057C>T		CCDS35188.1	9q34.3	2013-01-10			ENSG00000198435	ENSG00000198435		"""Ankyrin repeat domain containing"""	33843	protein-coding gene	gene with protein product							Standard	NM_001004354		Approved	MGC61598	uc004cmo.2	Q7Z6K4	OTTHUMG00000156150	ENST00000356628.2:c.324G>A	9.37:g.140196057C>T						C9orf167_uc011mew.1_Intron	p.K108K	NM_001004354	NP_001004354	Q7Z6K4	NRARP_HUMAN	STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)	1	647	-	all_cancers(76;0.0926)		108			ANK 2.		B8A4K5	Silent	SNP	ENST00000356628.2	37	c.324G>A	CCDS35188.1																																																																																				PASS	0.711	NRARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343196.1	NM_001004354		4	15	4	15	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26409611	26409611	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr10:26409611G>T	ENST00000265944.5	+	18	1949	c.1783G>T	c.(1783-1785)Ggt>Tgt	p.G595C	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	595	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G595C(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCAGCAACTTGGTAGTATATA	0.438																																						uc001isn.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(1783-1785)GGT>TGT		myosin IIIA							203.0	165.0	178.0					10																	26409611		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26409611G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1783G>T	10.37:g.26409611G>T	ENSP00000265944:p.Gly595Cys					MYO3A_uc009xko.1_Missense_Mutation_p.G595C|MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	p.G595C	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			18	2143	+			595			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.1783G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153864	0.78114	.	.	ENSG00000095777	ENST00000265944	D	0.87334	-2.24	5.82	5.82	0.92795	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.91057	0.7186	L	0.48362	1.52	0.80722	D	1	D;D	0.69078	0.997;0.976	P;P	0.62014	0.817;0.897	D	0.90662	0.4591	10	0.54805	T	0.06	.	20.0966	0.97849	0.0:0.0:1.0:0.0	.	595;595	Q0VD65;Q8NEV4	.;MYO3A_HUMAN	C	595	ENSP00000265944:G595C	ENSP00000265944:G595C	G	+	1	0	MYO3A	26449617	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.128000	0.71650	2.751000	0.94390	0.650000	0.86243	GGT		PASS	0.438	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		10	64	10	64	---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29815957	29815957	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr10:29815957C>A	ENST00000355867.4	-	13	3027	c.2275G>T	c.(2275-2277)Ggc>Tgc	p.G759C	SVIL_ENST00000375398.2_Missense_Mutation_p.G759C|SVIL_ENST00000375400.3_Intron	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	759					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.G759C(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGTGGGTGCCCCCAGAACAC	0.517																																						uc001iut.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(2275-2277)GGC>TGC		supervillin isoform 2							58.0	48.0	52.0					10																	29815957		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29815957C>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2275G>T	10.37:g.29815957C>A	ENSP00000348128:p.Gly759Cys					SVIL_uc001iuu.1_Intron	p.G759C	NM_021738	NP_068506	O95425	SVIL_HUMAN			13	3028	-		Breast(68;0.103)	759					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.2275G>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.788189	0.49997	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.11063	2.81;2.81	5.68	3.6	0.41247	.	0.601209	0.16820	N	0.198210	T	0.06280	0.0162	N	0.22421	0.69	0.80722	D	1	P	0.35600	0.511	B	0.34824	0.19	T	0.40021	-0.9585	9	.	.	.	-3.7335	4.3085	0.10958	0.0:0.5478:0.0:0.4522	.	759	O95425	SVIL_HUMAN	C	759	ENSP00000364547:G759C;ENSP00000348128:G759C	.	G	-	1	0	SVIL	29855963	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	1.729000	0.38115	1.393000	0.46605	0.563000	0.77884	GGC		PASS	0.517	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			4	26	4	26	---	---	---	---
SEC31B	25956	broad.mit.edu	37	10	102257543	102257543	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr10:102257543G>T	ENST00000370345.3	-	16	1968	c.1871C>A	c.(1870-1872)gCc>gAc	p.A624D	SEC31B_ENST00000494350.1_5'Flank	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	624					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)		p.A624D(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CACAACACAGGCTAGAAGCTG	0.512																																						uc001krc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1870-1872)GCC>GAC		SEC31 homolog B							143.0	121.0	129.0					10																	102257543		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102257543G>T	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1871C>A	10.37:g.102257543G>T	ENSP00000359370:p.Ala624Asp					SEC31B_uc010qpo.1_Missense_Mutation_p.A623D|SEC31B_uc001krd.1_Missense_Mutation_p.A161D|SEC31B_uc001krf.1_Missense_Mutation_p.A161D|SEC31B_uc001kre.1_Missense_Mutation_p.A161D|SEC31B_uc001krg.1_Missense_Mutation_p.A193D	p.A624D	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	16	1973	-		Colorectal(252;0.117)	624					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.1871C>A	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783945	0.49891	.	.	ENSG00000075826	ENST00000370345	T	0.52295	0.67	5.43	4.51	0.55191	.	0.159065	0.64402	D	0.000020	T	0.61578	0.2358	M	0.69823	2.125	0.80722	D	1	P;P	0.46327	0.876;0.803	P;P	0.53954	0.738;0.552	T	0.66736	-0.5848	10	0.87932	D	0	-2.5249	14.5216	0.67853	0.0:0.0:0.8522:0.1478	.	623;624	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	D	624	ENSP00000359370:A624D	ENSP00000359370:A624D	A	-	2	0	SEC31B	102247533	1.000000	0.71417	0.985000	0.45067	0.398000	0.30690	6.985000	0.76193	1.279000	0.44446	0.484000	0.47621	GCC		PASS	0.512	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		4	88	4	88	---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105185125	105185125	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr10:105185125C>T	ENST00000369797.3	+	20	3242	c.3148C>T	c.(3148-3150)Cat>Tat	p.H1050Y		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1050	S1 motif 9. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.H1050Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TAAGCCTACCCATGTGGTTGT	0.502																																						uc001kwy.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(3148-3150)CAT>TAT		programmed cell death 11							187.0	142.0	158.0					10																	105185125		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105185125C>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.3148C>T	10.37:g.105185125C>T	ENSP00000358812:p.His1050Tyr						p.H1050Y	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	20	3235	+		Colorectal(252;0.0747)|Breast(234;0.128)	1050			S1 motif 9.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.3148C>T	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952253	0.34471	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.42131	0.98	6.04	5.13	0.70059	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.442973	0.28796	N	0.014109	T	0.28732	0.0712	N	0.20685	0.6	0.37237	D	0.905961	B	0.16603	0.018	B	0.20184	0.028	T	0.12993	-1.0526	10	0.17369	T	0.5	-14.3741	14.7468	0.69494	0.0:0.9314:0.0:0.0686	.	1050	Q14690	RRP5_HUMAN	Y	1050	ENSP00000358812:H1050Y	ENSP00000358812:H1050Y	H	+	1	0	PDCD11	105175115	0.217000	0.23597	0.996000	0.52242	0.931000	0.56810	0.835000	0.27531	2.873000	0.98535	0.561000	0.74099	CAT		PASS	0.502	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			26	70	26	70	---	---	---	---
INPP5A	3632	broad.mit.edu	37	10	134563340	134563340	+	Missense_Mutation	SNP	C	C	A	rs569271876		TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr10:134563340C>A	ENST00000368594.3	+	11	1171	c.894C>A	c.(892-894)aaC>aaA	p.N298K	INPP5A_ENST00000368593.3_Missense_Mutation_p.N298K	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	298					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)	p.N298K(2)		cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		GAGACAACAACGGCACCGCGG	0.562																																					Pancreas(63;823 1267 11107 20380 51626)	uc001llp.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(892-894)AAC>AAA		inositol polyphosphate-5-phosphatase A							106.0	98.0	100.0					10																	134563340		2203	4300	6503	SO:0001583	missense	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134563340C>A	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.894C>A	10.37:g.134563340C>A	ENSP00000357583:p.Asn298Lys					INPP5A_uc001llo.1_Missense_Mutation_p.N298K|INPP5A_uc001llq.2_Intron	p.N298K	NM_005539	NP_005530	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	11	1142	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	298					D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	37	c.894C>A	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917163	0.33815	.	.	ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000432898	T;T	0.79845	-1.31;-1.31	4.99	-4.01	0.04045	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.80341	0.4605	L	0.42245	1.32	0.47659	D	0.999487	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.78590	-0.2145	10	0.07990	T	0.79	-24.8388	13.6866	0.62520	0.0:0.2284:0.0:0.7716	.	298;298	Q14642;Q5T1B5	I5P1_HUMAN;.	K	298;298;215	ENSP00000357583:N298K;ENSP00000357582:N298K	ENSP00000357582:N298K	N	+	3	2	INPP5A	134413330	0.973000	0.33851	0.967000	0.41034	0.343000	0.28985	0.035000	0.13797	-0.775000	0.04584	-0.768000	0.03414	AAC		PASS	0.562	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		15	62	15	62	---	---	---	---
CTSD	1509	broad.mit.edu	37	11	1775093	1775093	+	Silent	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:1775093C>A	ENST00000236671.2	-	8	1143	c.1011G>T	c.(1009-1011)gcG>gcT	p.A337A	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.R208L	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	337					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)	p.A337A(1)		endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCAGTGTGATCGCGGGCAGGG	0.637																																						uc001luc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1009-1011)GCG>GCT		cathepsin D preproprotein	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						89.0	90.0	90.0					11																	1775093		2202	4299	6501	SO:0001819	synonymous_variant	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1775093C>A	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.1011G>T	11.37:g.1775093C>A						CTSD_uc009yda.1_RNA	p.A337A	NM_001909	NP_001900	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	8	1144	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	337					Q6IB57	Silent	SNP	ENST00000236671.2	37	c.1011G>T	CCDS7725.1	.	.	.	.	.	.	.	.	.	.	c	5.904	0.350797	0.11182	.	.	ENSG00000250644	ENST00000427721	.	.	.	3.87	-5.5	0.02576	.	.	.	.	.	T	0.18551	0.0445	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27905	-1.0060	4	.	.	.	.	3.7379	0.08518	0.4165:0.239:0.2687:0.0758	.	.	.	.	L	208	.	.	R	-	2	0	RP11-295K3.1	1731669	0.014000	0.17966	0.000000	0.03702	0.013000	0.08279	0.047000	0.14056	-1.008000	0.03404	0.462000	0.41574	CGA		PASS	0.637	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		6	68	6	68	---	---	---	---
OR56B4	196335	broad.mit.edu	37	11	6129835	6129835	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:6129835T>A	ENST00000316529.3	+	1	922	c.827T>A	c.(826-828)aTt>aAt	p.I276N	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I276N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTCCCCTTATTCCTGTGTTC	0.512																																						uc010qzx.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(826-828)ATT>AAT		olfactory receptor, family 56, subfamily B,							111.0	113.0	112.0					11																	6129835		2201	4296	6497	SO:0001583	missense	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129835T>A	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.827T>A	11.37:g.6129835T>A	ENSP00000321196:p.Ile276Asn						p.I276N	NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	827	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	276			Extracellular (Potential).		Q6IFD7	Missense_Mutation	SNP	ENST00000316529.3	37	c.827T>A	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	T	9.762	1.170382	0.21621	.	.	ENSG00000180919	ENST00000316529	T	0.00145	8.67	4.01	2.84	0.33178	.	0.000000	0.37261	U	0.002171	T	0.00440	0.0014	M	0.85777	2.775	0.09310	N	1	D	0.60575	0.988	D	0.71414	0.973	T	0.27673	-1.0067	10	0.87932	D	0	.	9.5983	0.39587	0.1572:0.0:0.0:0.8428	.	276	Q8NH76	O56B4_HUMAN	N	276	ENSP00000321196:I276N	ENSP00000321196:I276N	I	+	2	0	OR56B4	6086411	0.001000	0.12720	0.068000	0.19968	0.159000	0.22180	1.048000	0.30379	0.665000	0.31066	0.449000	0.29647	ATT		PASS	0.512	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		17	103	17	103	---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7064865	7064865	+	Silent	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:7064865G>A	ENST00000299481.4	+	4	1954	c.1608G>A	c.(1606-1608)ttG>ttA	p.L536L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	536					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.L536L(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTGGCCTTTTGAATGAAGATC	0.358																																						uc001mfb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(1606-1608)TTG>TTA		NLR family, pyrin domain containing 14							75.0	78.0	77.0					11																	7064865		2201	4296	6497	SO:0001819	synonymous_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064865G>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1608G>A	11.37:g.7064865G>A							p.L536L	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1931	+			536					Q7RTR6	Silent	SNP	ENST00000299481.4	37	c.1608G>A	CCDS7776.1																																																																																				PASS	0.358	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		10	62	10	62	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40136672	40136672	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:40136672C>T	ENST00000278198.2	-	2	3134	c.1171G>A	c.(1171-1173)Gga>Aga	p.G391R	LRRC4C_ENST00000530763.1_Missense_Mutation_p.G391R|LRRC4C_ENST00000528697.1_Missense_Mutation_p.G391R|LRRC4C_ENST00000527150.1_Missense_Mutation_p.G391R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	391	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.G391R(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATGACTGTTCCATTTGGAGTA	0.488																																						uc001mxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(1171-1173)GGA>AGA		netrin-G1 ligand precursor							162.0	143.0	150.0					11																	40136672		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136672C>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1171G>A	11.37:g.40136672C>T	ENSP00000278198:p.Gly391Arg					LRRC4C_uc001mxc.1_Missense_Mutation_p.G387R|LRRC4C_uc001mxd.1_Missense_Mutation_p.G387R|LRRC4C_uc001mxb.1_Missense_Mutation_p.G387R	p.G391R	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	3135	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	391			Ig-like C2-type.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1171G>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478592	0.63849	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68805	0.3041	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68330	-0.5437	10	0.41790	T	0.15	.	18.9283	0.92553	0.0:1.0:0.0:0.0	.	391	Q9HCJ2	LRC4C_HUMAN	R	391	ENSP00000278198:G391R;ENSP00000436976:G391R;ENSP00000437132:G391R;ENSP00000434761:G391R	ENSP00000278198:G391R	G	-	1	0	LRRC4C	40093248	1.000000	0.71417	0.996000	0.52242	0.915000	0.54546	7.754000	0.85163	2.722000	0.93159	0.650000	0.86243	GGA		PASS	0.488	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		15	106	15	106	---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703454	55703454	+	Silent	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:55703454G>T	ENST00000301532.3	-	1	422	c.423C>A	c.(421-423)ggC>ggA	p.G141G		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	141					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G141G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCATACAGATGCCCCTAGACA	0.443																																						uc010ris.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(421-423)GGC>GGA		olfactory receptor, family 5, subfamily I,							79.0	82.0	81.0					11																	55703454		2201	4296	6497	SO:0001819	synonymous_variant	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703454G>T	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.423C>A	11.37:g.55703454G>T							p.G141G	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	423	-			141			Cytoplasmic (Potential).		Q6IEU4	Silent	SNP	ENST00000301532.3	37	c.423C>A	CCDS7949.1																																																																																				PASS	0.443	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		11	84	11	84	---	---	---	---
OR5M8	219484	broad.mit.edu	37	11	56258068	56258068	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:56258068C>T	ENST00000327216.2	-	1	803	c.779G>A	c.(778-780)aGa>aAa	p.R260K		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R260K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGAGGGGGGTCTGAGATACAT	0.408																																						uc001nix.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(778-780)AGA>AAA		olfactory receptor, family 5, subfamily M,							40.0	44.0	42.0					11																	56258068		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258068C>T	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.779G>A	11.37:g.56258068C>T	ENSP00000323354:p.Arg260Lys						p.R260K	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	779	-	Esophageal squamous(21;0.00352)		260			Extracellular (Potential).		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.779G>A	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577141	0.28092	.	.	ENSG00000181371	ENST00000327216	T	0.37411	1.2	4.26	2.21	0.28008	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	U	0.000943	T	0.37348	0.1000	L	0.39245	1.2	0.09310	N	1	D	0.53619	0.961	P	0.59115	0.852	T	0.07947	-1.0746	10	0.37606	T	0.19	-17.5679	3.5668	0.07903	0.166:0.5698:0.1625:0.1017	.	260	Q8NGP6	OR5M8_HUMAN	K	260	ENSP00000323354:R260K	ENSP00000323354:R260K	R	-	2	0	OR5M8	56014644	0.000000	0.05858	0.039000	0.18376	0.080000	0.17528	0.070000	0.14573	0.932000	0.37266	0.567000	0.79289	AGA		PASS	0.408	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		5	60	5	60	---	---	---	---
LRRC55	219527	broad.mit.edu	37	11	56949949	56949949	+	Silent	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:56949949G>A	ENST00000497933.1	+	1	729	c.582G>A	c.(580-582)cgG>cgA	p.R194R		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	164					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R194R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCTGGCTGCGGAGGGTGCATC	0.622																																						uc001njl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(580-582)CGG>CGA		leucine rich repeat containing 55							47.0	46.0	47.0					11																	56949949		2201	4296	6497	SO:0001819	synonymous_variant	219527					integral to membrane		g.chr11:56949949G>A		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.582G>A	11.37:g.56949949G>A							p.R194R	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			1	729	+			164			LRR 4.		A7E2U7|B2RN81	Silent	SNP	ENST00000497933.1	37	c.582G>A	CCDS31539.1																																																																																				PASS	0.622	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		4	39	4	39	---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57076303	57076303	+	Silent	SNP	T	T	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:57076303T>A	ENST00000532437.1	-	5	4193	c.3882A>T	c.(3880-3882)gcA>gcT	p.A1294A	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Silent_p.A1294A			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1294	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.A1294A(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GACTGCAGACTGCCCCTGGGG	0.587																																						uc001njr.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(3880-3882)GCA>GCT		tankyrase 1-binding protein 1							100.0	105.0	104.0					11																	57076303		2201	4296	6497	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076303T>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3882A>T	11.37:g.57076303T>A						TNKS1BP1_uc001njs.2_Silent_p.A1294A|TNKS1BP1_uc009ymd.1_Silent_p.A745A	p.A1294A	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			5	4194	-		all_epithelial(135;0.21)	1294			Gly-rich.|Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.3882A>T	CCDS7951.1																																																																																				PASS	0.587	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		16	118	16	118	---	---	---	---
DAGLA	747	broad.mit.edu	37	11	61498817	61498817	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:61498817G>A	ENST00000257215.5	+	9	994	c.878G>A	c.(877-879)tGc>tAc	p.C293Y		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	293					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.C293Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		AAAGAGGTCTGCTACTACATG	0.627																																						uc001nsa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(877-879)TGC>TAC		neural stem cell-derived dendrite regulator							100.0	91.0	94.0					11																	61498817		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61498817G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.878G>A	11.37:g.61498817G>A	ENSP00000257215:p.Cys293Tyr						p.C293Y	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	9	989	+			293			Cytoplasmic (Potential).		A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.878G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147959	0.78001	.	.	ENSG00000134780	ENST00000257215	T	0.23348	1.91	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	L	0.40543	1.245	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.07009	-1.0795	10	0.09843	T	0.71	-34.227	18.3022	0.90168	0.0:0.0:1.0:0.0	.	293	Q9Y4D2	DGLA_HUMAN	Y	293	ENSP00000257215:C293Y	ENSP00000257215:C293Y	C	+	2	0	DAGLA	61255393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.417000	0.80156	2.416000	0.81992	0.555000	0.69702	TGC		PASS	0.627	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		4	74	4	74	---	---	---	---
P2RY2	5029	broad.mit.edu	37	11	72945945	72945945	+	Silent	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:72945945C>T	ENST00000311131.2	+	3	1208	c.741C>T	c.(739-741)atC>atT	p.I247I	P2RY2_ENST00000393597.2_Silent_p.I247I|P2RY2_ENST00000393596.2_Silent_p.I247I	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	247					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)	p.I247I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TGCGCACCATCGCCGTGGTGC	0.647																																						uc001otj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(739-741)ATC>ATT		purinergic receptor P2Y2	Suramin(DB04786)						105.0	95.0	99.0					11																	72945945		2200	4293	6493	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945945C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.741C>T	11.37:g.72945945C>T						P2RY2_uc001otk.2_Silent_p.I247I|P2RY2_uc001otl.2_Silent_p.I247I	p.I247I	NM_002564	NP_002555	P41231	P2RY2_HUMAN			3	1074	+			247			Helical; Name=6; (Potential).		B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.741C>T	CCDS8219.1																																																																																				PASS	0.647	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		7	79	7	79	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92577249	92577249	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:92577249G>C	ENST00000298047.6	+	18	10733	c.10716G>C	c.(10714-10716)aaG>aaC	p.K3572N	FAT3_ENST00000409404.2_Missense_Mutation_p.K3572N|FAT3_ENST00000525166.1_Missense_Mutation_p.K3422N|FAT3_ENST00000533797.1_5'Flank			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3572	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K3572N(2)|p.K147N(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCATTGGGAAGATTCATGCCA	0.458										TCGA Ovarian(4;0.039)																												uc001pdj.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)|pancreas(1)	5						c.(10714-10716)AAG>AAC		FAT tumor suppressor homolog 3							174.0	174.0	174.0					11																	92577249		1992	4173	6165	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577249G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10716G>C	11.37:g.92577249G>C	ENSP00000298047:p.Lys3572Asn	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.K12N	p.K3572N	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			18	10733	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3572			Cadherin 33.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10716G>C		.	.	.	.	.	.	.	.	.	.	G	17.37	3.373143	0.61624	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.08546	3.08;3.08;3.08	5.82	2.9	0.33743	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.22704	0.0548	M	0.76574	2.34	0.80722	D	1	P;P	0.50443	0.935;0.841	P;P	0.59948	0.604;0.866	T	0.00628	-1.1637	9	0.52906	T	0.07	.	10.7855	0.46403	0.2759:0.0:0.7241:0.0	.	3572;3572	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	N	3572;3572;3422	ENSP00000298047:K3572N;ENSP00000387040:K3572N;ENSP00000432586:K3422N	ENSP00000298047:K3572N	K	+	3	2	FAT3	92216897	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.806000	0.47947	0.791000	0.33826	0.561000	0.74099	AAG		PASS	0.458	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		20	300	20	300	---	---	---	---
SLC36A4	120103	broad.mit.edu	37	11	92895910	92895910	+	Silent	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:92895910G>A	ENST00000326402.4	-	9	1129	c.999C>T	c.(997-999)atC>atT	p.I333I	SLC36A4_ENST00000529184.1_Silent_p.I198I	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	333					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.I333I(1)|p.I333M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGCTGCCTTTGATTTCATCAT	0.328																																						uc001pdn.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.I333M(1)	upper_aerodigestive_tract(1)|lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(997-999)ATC>ATT		solute carrier family 36 (proton/amino acid							93.0	89.0	90.0					11																	92895910		2201	4298	6499	SO:0001819	synonymous_variant	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92895910G>A	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.999C>T	11.37:g.92895910G>A						SLC36A4_uc001pdm.2_Silent_p.I198I	p.I333I	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN			9	1096	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	333					Q86X30|Q8IVM5|Q8N8S6	Silent	SNP	ENST00000326402.4	37	c.999C>T	CCDS8291.1																																																																																				PASS	0.328	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			4	91	4	91	---	---	---	---
SLC36A4	120103	broad.mit.edu	37	11	92901139	92901139	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:92901139G>A	ENST00000326402.4	-	7	869	c.739C>T	c.(739-741)Ctt>Ttt	p.L247F	SLC36A4_ENST00000529184.1_Missense_Mutation_p.L112F	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	247					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.L247F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTATCACAAGACTGACAGCC	0.318																																						uc001pdn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(739-741)CTT>TTT		solute carrier family 36 (proton/amino acid							91.0	91.0	91.0					11																	92901139		2201	4296	6497	SO:0001583	missense	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92901139G>A	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.739C>T	11.37:g.92901139G>A	ENSP00000317382:p.Leu247Phe					SLC36A4_uc001pdm.2_Missense_Mutation_p.L112F	p.L247F	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN			7	836	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	247			Helical; (Potential).		Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	c.739C>T	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122393	0.77436	.	.	ENSG00000180773	ENST00000326402;ENST00000529184;ENST00000534116	T;T;T	0.02682	4.2;4.2;4.2	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.09992	0.0245	L	0.39566	1.225	0.51233	D	0.999917	D	0.89917	1.0	D	0.81914	0.995	T	0.02625	-1.1132	10	0.54805	T	0.06	-21.3705	15.0613	0.71955	0.0698:0.0:0.9302:0.0	.	247	Q6YBV0	S36A4_HUMAN	F	247;112;141	ENSP00000317382:L247F;ENSP00000436570:L112F;ENSP00000432061:L141F	ENSP00000317382:L247F	L	-	1	0	SLC36A4	92540787	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.991000	0.63883	2.684000	0.91462	0.650000	0.86243	CTT		PASS	0.318	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			9	112	9	112	---	---	---	---
C11orf54	28970	broad.mit.edu	37	11	93483519	93483519	+	Silent	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:93483519G>A	ENST00000331239.4	+	3	242	c.63G>A	c.(61-63)caG>caA	p.Q21Q	C11orf54_ENST00000528288.1_Silent_p.Q21Q|C11orf54_ENST00000528099.1_Silent_p.Q21Q|C11orf54_ENST00000354421.3_Silent_p.Q21Q|C11orf54_ENST00000540113.1_Silent_p.Q2Q			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	21					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)	p.Q21H(1)|p.Q21Q(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TAGTTATGCAGAAGGGGTTAA	0.378																																						uc009ywi.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		NS(1)|lung(1)		0						c.(61-63)CAG>CAA		hypothetical protein LOC28970							156.0	158.0	158.0					11																	93483519		2201	4297	6498	SO:0001819	synonymous_variant	28970					nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding	g.chr11:93483519G>A	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.63G>A	11.37:g.93483519G>A						C11orf54_uc001pee.1_Silent_p.Q21Q|C11orf54_uc001pef.2_Silent_p.Q21Q|C11orf54_uc001peg.2_Silent_p.Q21Q|C11orf54_uc001peh.2_Silent_p.Q21Q|C11orf54_uc001pei.2_Silent_p.Q2Q|C11orf54_uc001pej.2_Silent_p.Q2Q	p.Q21Q	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN			4	394	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	21					A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Silent	SNP	ENST00000331239.4	37	c.63G>A																																																																																					PASS	0.378	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039		6	135	6	135	---	---	---	---
C11orf54	28970	broad.mit.edu	37	11	93486866	93486866	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:93486866G>T	ENST00000331239.4	+	4	352	c.173G>T	c.(172-174)aGa>aTa	p.R58I	C11orf54_ENST00000528288.1_Missense_Mutation_p.R58I|C11orf54_ENST00000528099.1_Missense_Mutation_p.R58I|C11orf54_ENST00000354421.3_Missense_Mutation_p.R58I|C11orf54_ENST00000540113.1_Missense_Mutation_p.R39I			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	58					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)	p.R58I(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGGAAAACTAGAATTGCAGAA	0.328																																						uc009ywi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(172-174)AGA>ATA		hypothetical protein LOC28970							99.0	98.0	98.0					11																	93486866		2201	4298	6499	SO:0001583	missense	28970					nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding	g.chr11:93486866G>T	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.173G>T	11.37:g.93486866G>T	ENSP00000331209:p.Arg58Ile					C11orf54_uc001pee.1_Missense_Mutation_p.R58I|C11orf54_uc001pef.2_Missense_Mutation_p.R58I|C11orf54_uc001peg.2_Missense_Mutation_p.R58I|C11orf54_uc001peh.2_Missense_Mutation_p.R58I|C11orf54_uc001pei.2_Missense_Mutation_p.R39I|C11orf54_uc001pej.2_Missense_Mutation_p.R39I|C11orf54_uc001pek.2_5'UTR	p.R58I	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN			5	504	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	58					A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Missense_Mutation	SNP	ENST00000331239.4	37	c.173G>T		.	.	.	.	.	.	.	.	.	.	G	27.8	4.863018	0.91511	.	.	ENSG00000182919	ENST00000528288;ENST00000331239;ENST00000533585;ENST00000528099;ENST00000354421;ENST00000540113;ENST00000530620;ENST00000527003;ENST00000531650;ENST00000530279;ENST00000524485;ENST00000527363;ENST00000526335	.	.	.	5.32	5.32	0.75619	Domain of unknown function DUF1907 (1);	0.000000	0.85682	D	0.000000	T	0.75184	0.3815	L	0.55103	1.725	0.80722	D	1	D;D;D	0.76494	0.999;0.981;0.999	D;D;D	0.75484	0.986;0.915;0.986	T	0.70368	-0.4891	9	0.25106	T	0.35	-23.707	19.0041	0.92843	0.0:0.0:1.0:0.0	.	58;58;58	Q9H0W9;Q9H0W9-3;A8K718	CK054_HUMAN;.;.	I	58;58;58;58;58;39;39;58;58;58;39;58;58	.	ENSP00000331209:R58I	R	+	2	0	C11orf54	93126514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.836000	0.92105	2.496000	0.84212	0.591000	0.81541	AGA		PASS	0.328	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039		5	85	5	85	---	---	---	---
C11orf54	28970	broad.mit.edu	37	11	93487108	93487108	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:93487108G>A	ENST00000331239.4	+	5	414	c.235G>A	c.(235-237)Gat>Aat	p.D79N	C11orf54_ENST00000528288.1_Missense_Mutation_p.D79N|C11orf54_ENST00000528099.1_Missense_Mutation_p.D79N|C11orf54_ENST00000354421.3_Missense_Mutation_p.D79N|C11orf54_ENST00000540113.1_Missense_Mutation_p.D60N			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	79					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)	p.D79N(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATAGGTTTATGATCTGAATAA	0.388																																						uc009ywi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(235-237)GAT>AAT		hypothetical protein LOC28970							89.0	102.0	98.0					11																	93487108		2199	4298	6497	SO:0001583	missense	28970					nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding	g.chr11:93487108G>A	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.235G>A	11.37:g.93487108G>A	ENSP00000331209:p.Asp79Asn					C11orf54_uc001pee.1_Missense_Mutation_p.D79N|C11orf54_uc001pef.2_Missense_Mutation_p.D79N|C11orf54_uc001peg.2_Missense_Mutation_p.D79N|C11orf54_uc001peh.2_Missense_Mutation_p.D79N|C11orf54_uc001pei.2_Missense_Mutation_p.D60N|C11orf54_uc001pej.2_Missense_Mutation_p.D60N|C11orf54_uc001pek.2_5'UTR	p.D79N	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN			6	566	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	79					A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Missense_Mutation	SNP	ENST00000331239.4	37	c.235G>A		.	.	.	.	.	.	.	.	.	.	G	10.57	1.386137	0.25031	.	.	ENSG00000182919	ENST00000528288;ENST00000331239;ENST00000533585;ENST00000528099;ENST00000354421;ENST00000540113;ENST00000530620;ENST00000531650;ENST00000530279;ENST00000524485;ENST00000527363;ENST00000526335	.	.	.	5.21	5.21	0.72293	Domain of unknown function DUF1907 (1);	0.137685	0.64402	D	0.000003	T	0.31544	0.0800	N	0.10760	0.04	0.58432	D	0.999995	B;B;B	0.27013	0.125;0.166;0.125	B;B;B	0.32928	0.155;0.129;0.155	T	0.17228	-1.0376	9	0.09338	T	0.73	-16.9123	12.1435	0.54010	0.0786:0.0:0.9214:0.0	.	79;79;79	Q9H0W9;Q9H0W9-3;A8K718	CK054_HUMAN;.;.	N	79;79;79;79;79;60;60;79;79;60;79;79	.	ENSP00000331209:D79N	D	+	1	0	C11orf54	93126756	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.693000	0.54735	2.436000	0.82500	0.591000	0.81541	GAT		PASS	0.388	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039		16	256	16	256	---	---	---	---
PANX1	24145	broad.mit.edu	37	11	93862630	93862630	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:93862630C>G	ENST00000227638.3	+	1	537	c.152C>G	c.(151-153)tCg>tGg	p.S51W	PANX1_ENST00000436171.2_Missense_Mutation_p.S51W	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	51					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)	p.S51W(1)		endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	CTGCTCATCTCGCTGGCCTTC	0.652																																						uc001per.2																			1	Substitution - Missense(1)		lung(1)		0						c.(151-153)TCG>TGG		pannexin 1							56.0	52.0	54.0					11																	93862630		2201	4298	6499	SO:0001583	missense	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93862630C>G	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.152C>G	11.37:g.93862630C>G	ENSP00000227638:p.Ser51Trp					uc001pen.1_5'Flank|PANX1_uc001peq.2_Missense_Mutation_p.S51W	p.S51W	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN			1	537	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	51			Helical; (Potential).		O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	ENST00000227638.3	37	c.152C>G	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562305	0.86335	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.39056	1.1;1.1	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73222	-0.4051	10	0.72032	D	0.01	-11.1942	16.123	0.81375	0.0:1.0:0.0:0.0	.	51;51	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	W	51	ENSP00000227638:S51W;ENSP00000411461:S51W	ENSP00000227638:S51W	S	+	2	0	PANX1	93502278	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	5.561000	0.67339	2.125000	0.65367	0.491000	0.48974	TCG		PASS	0.652	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		8	86	8	86	---	---	---	---
PANX1	24145	broad.mit.edu	37	11	93862640	93862640	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:93862640C>A	ENST00000227638.3	+	1	547	c.162C>A	c.(160-162)ttC>ttA	p.F54L	PANX1_ENST00000436171.2_Missense_Mutation_p.F54L	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	54					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)	p.F54L(1)		endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	CGCTGGCCTTCGCGCAGGAGA	0.662																																						uc001per.2																			1	Substitution - Missense(1)		lung(1)		0						c.(160-162)TTC>TTA		pannexin 1							52.0	48.0	50.0					11																	93862640		2201	4298	6499	SO:0001583	missense	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93862640C>A	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.162C>A	11.37:g.93862640C>A	ENSP00000227638:p.Phe54Leu					uc001pen.1_5'Flank|PANX1_uc001peq.2_Missense_Mutation_p.F54L	p.F54L	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN			1	547	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	54			Helical; (Potential).		O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	ENST00000227638.3	37	c.162C>A	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252599	0.80135	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.26957	1.7;1.7	4.11	2.14	0.27477	.	0.052505	0.85682	D	0.000000	T	0.41650	0.1168	M	0.83953	2.67	0.54753	D	0.999986	P;P	0.52692	0.955;0.944	P;P	0.54174	0.744;0.532	T	0.39231	-0.9624	10	0.41790	T	0.15	-20.3726	9.9912	0.41872	0.0:0.825:0.0:0.1749	.	54;54	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	L	54	ENSP00000227638:F54L;ENSP00000411461:F54L	ENSP00000227638:F54L	F	+	3	2	PANX1	93502288	0.935000	0.31712	1.000000	0.80357	0.768000	0.43524	0.065000	0.14466	0.934000	0.37316	0.491000	0.48974	TTC		PASS	0.662	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		8	78	8	78	---	---	---	---
CASP4	837	broad.mit.edu	37	11	104825679	104825679	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:104825679T>A	ENST00000444739.2	-	2	967	c.57A>T	c.(55-57)aaA>aaT	p.K19N	CASP4_ENST00000393150.3_De_novo_Start_OutOfFrame|CASP4_ENST00000531333.1_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	19	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)	p.K19N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TGAGGAAATCTTTGCCCAGGG	0.378																																						uc001pid.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|skin(1)	4						c.(55-57)AAA>AAT		caspase 4 isoform alpha precursor							109.0	104.0	105.0					11																	104825679		2202	4299	6501	SO:0001583	missense	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104825679T>A	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.57A>T	11.37:g.104825679T>A	ENSP00000388566:p.Lys19Asn					CASP4_uc001pib.1_Translation_Start_Site|CASP4_uc009yxg.1_Translation_Start_Site|CASP4_uc010rux.1_Missense_Mutation_p.K19N|CASP4_uc010ruy.1_Missense_Mutation_p.K19N	p.K19N	NM_001225	NP_001216	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	2	130	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	19			CARD.		A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	c.57A>T	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.209708	0.58343	.	.	ENSG00000196954	ENST00000444739;ENST00000417440	T;T	0.16457	2.34;2.34	3.51	3.51	0.40186	DEATH-like (2);Caspase Recruitment (3);	0.435940	0.23692	N	0.045505	T	0.34454	0.0898	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;0.985;0.987	D;P;P	0.85130	0.997;0.855;0.899	T	0.05068	-1.0908	10	0.56958	D	0.05	.	8.5609	0.33509	0.0:0.0:0.0:1.0	.	19;19;19	B4DJH5;B4E2D2;P49662	.;.;CASP4_HUMAN	N	19	ENSP00000388566:K19N;ENSP00000401673:K19N	ENSP00000401673:K19N	K	-	3	2	CASP4	104330889	0.326000	0.24669	0.334000	0.25495	0.014000	0.08584	1.281000	0.33214	1.578000	0.49821	0.482000	0.46254	AAA		PASS	0.378	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		11	66	11	66	---	---	---	---
DIXDC1	85458	broad.mit.edu	37	11	111866262	111866262	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:111866262G>T	ENST00000440460.2	+	17	1957	c.1660G>T	c.(1660-1662)Gag>Tag	p.E554*	DIXDC1_ENST00000315253.5_Nonsense_Mutation_p.E343*|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	555					camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)	p.E554*(1)		cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GCATGTTATGGAGACGCAGAA	0.483																																						uc001pml.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1663-1665)GAG>TAG		DIX domain containing 1 isoform a							83.0	83.0	83.0					11																	111866262		2020	4194	6214	SO:0001587	stop_gained	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111866262G>T	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.1660G>T	11.37:g.111866262G>T	ENSP00000394352:p.Glu554*					DIXDC1_uc001pmm.2_Nonsense_Mutation_p.E344*|DIXDC1_uc001pmn.2_Nonsense_Mutation_p.E261*|DIXDC1_uc010rwq.1_Nonsense_Mutation_p.E220*	p.E555*	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	17	1960	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	555					A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Nonsense_Mutation	SNP	ENST00000440460.2	37	c.1663G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.633171	0.97722	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	.	.	.	5.7	5.7	0.88788	.	0.044719	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-43.1124	19.8479	0.96722	0.0:0.0:1.0:0.0	.	.	.	.	X	554;343	.	ENSP00000314068:E343X	E	+	1	0	DIXDC1	111371472	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	4.515000	0.60489	2.681000	0.91329	0.655000	0.94253	GAG		PASS	0.483	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954		10	82	10	82	---	---	---	---
TMPRSS13	84000	broad.mit.edu	37	11	117787940	117787940	+	Silent	SNP	C	C	A	rs566188858	byFrequency	TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr11:117787940C>A	ENST00000430170.2	-	3	588	c.501G>T	c.(499-501)ccG>ccT	p.P167P	TMPRSS13_ENST00000526090.1_Silent_p.P167P|TMPRSS13_ENST00000445164.2_Silent_p.P167P|TMPRSS13_ENST00000524993.1_Silent_p.P167P|TMPRSS13_ENST00000528626.1_Intron	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	167						blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.P167P(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		ACCCGATGAGCGGTAGCTGCT	0.627																																						uc001prs.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(499-501)CCG>CCT		transmembrane protease, serine 13							42.0	52.0	49.0					11																	117787940		2057	4193	6250	SO:0001819	synonymous_variant	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117787940C>A	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.501G>T	11.37:g.117787940C>A						TMPRSS13_uc009yzr.1_Intron|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Silent_p.P167P	p.P167P	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	3	594	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	162			Helical; Signal-anchor for type II membrane protein; (Potential).		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	ENST00000430170.2	37	c.501G>T	CCDS58185.1																																																																																				PASS	0.627	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		4	29	4	29	---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	401958	401958	+	Silent	SNP	T	T	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr12:401958T>G	ENST00000399788.2	-	27	5195	c.4833A>C	c.(4831-4833)gcA>gcC	p.A1611A	KDM5A_ENST00000540838.1_5'UTR|KDM5A_ENST00000382815.4_Silent_p.A1611A	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1611					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A1611A(1)|p.A1616A(1)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGTTCTGTGCTGCGCACACAG	0.478			T	NUP98	AML																																	uc001qif.1				Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(4831-4833)GCA>GCC		retinoblastoma binding protein 2 isoform 1							124.0	126.0	125.0					12																	401958		2038	4201	6239	SO:0001819	synonymous_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:401958T>G		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4833A>C	12.37:g.401958T>G						KDM5A_uc001qie.1_Silent_p.A1616A	p.A1611A	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			27	5196	-			1611			PHD-type 3.		A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	c.4833A>C	CCDS41736.1																																																																																				PASS	0.478	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		46	105	46	105	---	---	---	---
APOBEC1	339	broad.mit.edu	37	12	7805307	7805307	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr12:7805307T>C	ENST00000229304.4	-	3	189	c.169A>G	c.(169-171)Aac>Gac	p.N57D		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	57					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.N57D(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TTGGTGGTGTTTTTGCCTGAG	0.458																																					Pancreas(135;929 1826 4531 10527 41012)	uc001qtb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(169-171)AAC>GAC		apolipoprotein B mRNA editing enzyme							34.0	35.0	35.0					12																	7805307		2203	4300	6503	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7805307T>C	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.169A>G	12.37:g.7805307T>C	ENSP00000229304:p.Asn57Asp					APOBEC1_uc001qtc.2_Missense_Mutation_p.N12D|APOBEC1_uc010sgf.1_Missense_Mutation_p.N57D	p.N57D	NM_001644	NP_001635	P41238	ABEC1_HUMAN			3	203	-			57					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.169A>G	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.874063	0.51695	.	.	ENSG00000111701	ENST00000229304	T	0.61742	0.08	4.48	4.48	0.54585	APOBEC-like, N-terminal (1);	0.000000	0.64402	D	0.000010	T	0.70029	0.3177	L	0.61218	1.895	0.30743	N	0.745988	D	0.76494	0.999	D	0.80764	0.994	T	0.70536	-0.4845	10	0.49607	T	0.09	-31.6924	10.4727	0.44646	0.0:0.0:0.0:1.0	.	57	P41238	ABEC1_HUMAN	D	57	ENSP00000229304:N57D	ENSP00000229304:N57D	N	-	1	0	APOBEC1	7696574	0.994000	0.37717	0.926000	0.36857	0.284000	0.27059	3.822000	0.55708	1.805000	0.52779	0.379000	0.24179	AAC		PASS	0.458	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		6	42	6	42	---	---	---	---
RIMKLB	57494	broad.mit.edu	37	12	8926044	8926044	+	Silent	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr12:8926044C>G	ENST00000538135.1	+	6	1650	c.825C>G	c.(823-825)gtC>gtG	p.V275V	RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000535829.1_Silent_p.V275V|A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000357529.3_Silent_p.V275V			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	275	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.V275V(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCTTCTGCGTCTGTGAGGCCA	0.483																																						uc001quu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(823-825)GTC>GTG		ribosomal modification protein rimK-like family							170.0	171.0	171.0					12																	8926044		2060	4213	6273	SO:0001819	synonymous_variant	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8926044C>G	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.825C>G	12.37:g.8926044C>G						RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Silent_p.V275V|RIMKLB_uc010sgl.1_Silent_p.V275V|RIMKLB_uc001quw.2_Silent_p.V275V	p.V275V	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN			6	1076	+			275			ATP-grasp.		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Silent	SNP	ENST00000538135.1	37	c.825C>G	CCDS41748.1																																																																																				PASS	0.483	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		40	125	40	125	---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	8998722	8998722	+	Silent	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr12:8998722C>T	ENST00000299698.7	+	14	1767	c.1587C>T	c.(1585-1587)gcC>gcT	p.A529A	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Silent_p.A38A	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.A529A(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CGAGACTGGCCCCTGATCCTT	0.463																																						uc001quz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1585-1587)GCC>GCT		alpha-2-macroglobulin-like 1 precursor							172.0	159.0	163.0					12																	8998722		1929	4145	6074	SO:0001819	synonymous_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8998722C>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1587C>T	12.37:g.8998722C>T						A2ML1_uc001qva.1_Silent_p.A109A|A2ML1_uc010sgm.1_Silent_p.A29A	p.A529A	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			14	1685	+			373						Silent	SNP	ENST00000299698.7	37	c.1587C>T	CCDS8596.2																																																																																				PASS	0.463	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		9	145	9	145	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9349191	9349191	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr12:9349191C>A	ENST00000261336.2	-	9	986	c.958G>T	c.(958-960)Gcc>Tcc	p.A320S	PZP_ENST00000381997.2_Missense_Mutation_p.A189S	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	320					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A320S(1)|p.A189S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CTGATCCTGGCTTCCACTCTA	0.383																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(958-960)GCC>TCC		pregnancy-zone protein precursor							139.0	137.0	138.0					12																	9349191		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9349191C>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.958G>T	12.37:g.9349191C>A	ENSP00000261336:p.Ala320Ser					PZP_uc009zgl.2_Missense_Mutation_p.A189S	p.A320S	NM_002864	NP_002855					9	987	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.958G>T	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321818	0.41096	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.45276	1.08;0.9	3.57	3.57	0.40892	.	0.120271	0.35838	U	0.002945	T	0.57577	0.2063	M	0.84433	2.695	0.22034	N	0.999402	P;P	0.51933	0.843;0.949	P;P	0.53313	0.639;0.723	T	0.55244	-0.8171	10	0.62326	D	0.03	.	11.4331	0.50052	0.0:1.0:0.0:0.0	.	189;320	P20742-2;P20742	.;PZP_HUMAN	S	320;189	ENSP00000261336:A320S;ENSP00000371427:A189S	ENSP00000261336:A320S	A	-	1	0	PZP	9240458	0.309000	0.24518	0.984000	0.44739	0.036000	0.12997	4.051000	0.57412	1.972000	0.57404	0.456000	0.33151	GCC		PASS	0.383	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		9	133	9	133	---	---	---	---
RERG	85004	broad.mit.edu	37	12	15262093	15262093	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr12:15262093G>T	ENST00000256953.2	-	5	887	c.551C>A	c.(550-552)aCg>aAg	p.T184K	RERG_ENST00000546331.1_Missense_Mutation_p.T165K|RERG_ENST00000536465.1_Missense_Mutation_p.T184K|RERG_ENST00000538313.1_Missense_Mutation_p.T184K	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	184					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T184K(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CTTGACATGCGTGGTGGAGCT	0.517																																						uc001rcs.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(550-552)ACG>AAG		RAS-like, estrogen-regulated, growth inhibitor							124.0	116.0	119.0					12																	15262093		2203	4300	6503	SO:0001583	missense	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262093G>T	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.551C>A	12.37:g.15262093G>T	ENSP00000256953:p.Thr184Lys					RERG_uc001rct.2_Missense_Mutation_p.T184K|RERG_uc010shu.1_Missense_Mutation_p.T165K	p.T184K	NM_032918	NP_116307	Q96A58	RERG_HUMAN			4	691	-			184					B2R9R0|B4DI02	Missense_Mutation	SNP	ENST00000256953.2	37	c.551C>A	CCDS8673.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756395	0.69648	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331	T;T;T;T	0.66815	-0.23;-0.23;-0.23;0.32	4.56	4.56	0.56223	.	0.045455	0.85682	D	0.000000	T	0.41949	0.1181	N	0.08118	0	0.80722	D	1	B;B	0.25772	0.134;0.007	B;B	0.15870	0.014;0.003	T	0.44283	-0.9338	10	0.05436	T	0.98	.	16.4155	0.83732	0.0:0.0:1.0:0.0	.	165;184	B4DI02;Q96A58	.;RERG_HUMAN	K	184;184;184;165	ENSP00000256953:T184K;ENSP00000441505:T184K;ENSP00000438280:T184K;ENSP00000444485:T165K	ENSP00000256953:T184K	T	-	2	0	RERG	15153360	1.000000	0.71417	0.980000	0.43619	0.991000	0.79684	9.595000	0.98260	2.526000	0.85167	0.655000	0.94253	ACG		PASS	0.517	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		31	112	31	112	---	---	---	---
SSPN	8082	broad.mit.edu	37	12	26383680	26383680	+	Missense_Mutation	SNP	G	G	T	rs189138467		TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr12:26383680G>T	ENST00000242729.2	+	3	580	c.403G>T	c.(403-405)Gtc>Ttc	p.V135F	RP11-283G6.5_ENST00000537525.1_RNA|RP11-283G6.5_ENST00000540625.1_RNA|RP11-283G6.5_ENST00000541940.1_RNA|SSPN_ENST00000535504.1_Intron|RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000540266.1_Missense_Mutation_p.V32F|SSPN_ENST00000422622.2_Missense_Mutation_p.V32F	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	135					cell adhesion (GO:0007155)|muscle contraction (GO:0006936)	cell junction (GO:0030054)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)		p.V135F(1)		kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					GGGCCTGACGGTCTGTGTGCT	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		19215	0.001		0.0	False		,,,				2504	0.0					uc001rhe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(403-405)GTC>TTC		sarcospan isoform 1							86.0	84.0	84.0					12																	26383680		2203	4300	6503	SO:0001583	missense	8082				cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle		g.chr12:26383680G>T	AF016028	CCDS8707.1, CCDS44850.1	12p11.2	2014-09-17	2012-03-14			ENSG00000123096			11322	protein-coding gene	gene with protein product		601599	"""Kras oncogene-associated gene"""	KRAG		9395445, 8661122	Standard	NM_005086		Approved	SPN1, SPN2	uc001rhe.3	Q14714		ENST00000242729.2:c.403G>T	12.37:g.26383680G>T	ENSP00000242729:p.Val135Phe					SSPN_uc001rhd.2_Missense_Mutation_p.V32F|SSPN_uc009zjf.2_Intron|SSPN_uc001rhf.3_Intron	p.V135F	NM_005086	NP_005077	Q14714	SSPN_HUMAN			3	503	+	Colorectal(261;0.0847)		135			Helical; (Potential).		B3KS67	Missense_Mutation	SNP	ENST00000242729.2	37	c.403G>T	CCDS8707.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.83	3.230411	0.58777	.	.	ENSG00000123096	ENST00000538142;ENST00000540266;ENST00000422622;ENST00000242729;ENST00000441067	T;T;T;T	0.02258	4.37;4.37;4.37;4.37	4.81	3.9	0.45041	.	0.526224	0.21443	N	0.074458	T	0.02888	0.0086	L	0.44542	1.39	0.21386	N	0.999707	P	0.43542	0.81	B	0.40375	0.327	T	0.41787	-0.9489	10	0.66056	D	0.02	-14.3112	10.0487	0.42203	0.077:0.1391:0.7839:0.0	.	135	Q14714	SSPN_HUMAN	F	32;32;32;135;109	ENSP00000445360:V32F;ENSP00000442893:V32F;ENSP00000396087:V32F;ENSP00000242729:V135F	ENSP00000242729:V135F	V	+	1	0	SSPN	26274947	0.018000	0.18449	0.671000	0.29857	0.939000	0.58152	0.690000	0.25451	2.396000	0.81511	0.563000	0.77884	GTC		PASS	0.517	SSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402654.2	NM_005086		7	75	7	75	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46320209	46320209	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr12:46320209T>C	ENST00000369367.3	-	11	3508	c.3275A>G	c.(3274-3276)cAg>cGg	p.Q1092R	SCAF11_ENST00000465950.1_Missense_Mutation_p.Q777R|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_Missense_Mutation_p.Q1092R|SCAF11_ENST00000549162.1_Missense_Mutation_p.Q900R	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1092					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q1092R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ATTTTCATTCTGATCTTTATA	0.433																																						uc001rox.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3274-3276)CAG>CGG		splicing factor, arginine/serine-rich 2,							68.0	74.0	72.0					12																	46320209		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320209T>C	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3275A>G	12.37:g.46320209T>C	ENSP00000358374:p.Gln1092Arg					SFRS2IP_uc001row.2_Missense_Mutation_p.Q777R|SFRS2IP_uc001roy.1_Missense_Mutation_p.Q1166R	p.Q1092R	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	11	3562	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	1092					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.3275A>G	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	17.61	3.431635	0.62844	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.85	5.85	0.93711	.	0.089021	0.49916	D	0.000137	T	0.61689	0.2367	M	0.62723	1.935	0.26645	N	0.972206	D;D	0.76494	0.999;0.988	D;P	0.68943	0.961;0.838	T	0.56715	-0.7933	10	0.21540	T	0.41	-12.0691	12.4718	0.55792	0.1251:0.0:0.0:0.8749	.	900;1092	F8VXG7;Q99590	.;SCAFB_HUMAN	R	777;1092;900;1092	ENSP00000449812:Q777R;ENSP00000358374:Q1092R;ENSP00000448864:Q900R;ENSP00000413036:Q1092R	ENSP00000358374:Q1092R	Q	-	2	0	SCAF11	44606476	0.992000	0.36948	0.974000	0.42286	0.818000	0.46254	1.768000	0.38511	2.239000	0.73571	0.533000	0.62120	CAG		PASS	0.433	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		18	103	18	103	---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54910050	54910050	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr12:54910050G>T	ENST00000293373.6	+	10	1048	c.969G>T	c.(967-969)aaG>aaT	p.K323N	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.K273N|NCKAP1L_ENST00000552211.1_3'UTR	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	323					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.K323N(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CAGACATAAAGGAGAGCAAGG	0.483																																						uc001sgc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(967-969)AAG>AAT		NCK-associated protein 1-like							283.0	206.0	232.0					12																	54910050		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54910050G>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.969G>T	12.37:g.54910050G>T	ENSP00000293373:p.Lys323Asn					NCKAP1L_uc010sox.1_Translation_Start_Site|NCKAP1L_uc010soy.1_Missense_Mutation_p.K273N	p.K323N	NM_005337	NP_005328	P55160	NCKPL_HUMAN			10	1048	+			323					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.969G>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790565	0.70337	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.34275	1.37;1.37	5.53	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	M	0.79693	2.465	0.51767	D	0.999937	D	0.76494	0.999	D	0.83275	0.996	T	0.55147	-0.8186	10	0.48119	T	0.1	-23.1254	7.3255	0.26553	0.2661:0.0:0.7339:0.0	.	323	P55160	NCKPL_HUMAN	N	323;273	ENSP00000293373:K323N;ENSP00000445596:K273N	ENSP00000293373:K323N	K	+	3	2	NCKAP1L	53196317	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	1.847000	0.39299	0.706000	0.31912	0.484000	0.47621	AAG		PASS	0.483	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		7	79	7	79	---	---	---	---
OR6C68	403284	broad.mit.edu	37	12	55886651	55886651	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr12:55886651C>A	ENST00000548615.1	+	1	490	c.490C>A	c.(490-492)Cta>Ata	p.L164I	RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000379662.1_Missense_Mutation_p.L169I|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L169I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						AGGTTTTCATCTAGAATTCTG	0.383																																						uc010spo.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(505-507)CTA>ATA		olfactory receptor, family 6, subfamily C,							122.0	113.0	116.0					12																	55886651		2203	4300	6503	SO:0001583	missense	403284				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55886651C>A		CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"""GPCR / Class A : Olfactory receptors"""	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.490C>A	12.37:g.55886651C>A	ENSP00000448811:p.Leu164Ile						p.L169I	NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN			1	505	+			164			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000548615.1	37	c.505C>A	CCDS31826.2	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750065	0.49257	.	.	ENSG00000205327	ENST00000379662;ENST00000548615	T;T	0.00285	8.3;8.3	4.77	0.758	0.18432	GPCR, rhodopsin-like superfamily (1);	0.233245	0.22440	N	0.060029	T	0.00695	0.0023	M	0.91663	3.23	0.09310	N	0.99999	D	0.71674	0.998	D	0.66602	0.945	T	0.26677	-1.0096	10	0.87932	D	0	.	9.9022	0.41355	0.0:0.6819:0.0:0.3181	.	164	A6NDL8	O6C68_HUMAN	I	169;164	ENSP00000368983:L169I;ENSP00000448811:L164I	ENSP00000368983:L169I	L	+	1	2	OR6C68	54172918	0.000000	0.05858	0.069000	0.20011	0.002000	0.02628	-0.983000	0.03759	0.287000	0.22375	-0.216000	0.12614	CTA		PASS	0.383	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406677.1			6	50	6	50	---	---	---	---
MIP	4284	broad.mit.edu	37	12	56845175	56845175	+	Silent	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr12:56845175G>T	ENST00000257979.4	-	4	709	c.681C>A	c.(679-681)ctC>ctA	p.L227L	TIMELESS_ENST00000554616.1_5'Flank|TIMELESS_ENST00000229201.4_5'Flank|MIP_ENST00000555551.1_5'Flank|TIMELESS_ENST00000553532.1_5'Flank	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	227	Interaction with CALM. {ECO:0000250}.				canalicular bile acid transport (GO:0015722)|lens development in camera-type eye (GO:0002088)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)|water transport (GO:0006833)	gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|structural constituent of eye lens (GO:0005212)|transporter activity (GO:0005215)|water channel activity (GO:0015250)	p.L227L(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						AAATACTCTTGAGCCGGGGGA	0.522																																						uc001slh.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(679-681)CTC>CTA		major intrinsic protein of lens fiber							85.0	89.0	88.0					12																	56845175		2203	4300	6503	SO:0001819	synonymous_variant	4284				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens	g.chr12:56845175G>T		CCDS8919.1	12q13	2012-10-02				ENSG00000135517		"""Ion channels / Aquaporins"""	7103	protein-coding gene	gene with protein product	aquaporin 0	154050				1840563, 7536742	Standard	NM_012064		Approved	MP26, LIM1, AQP0	uc001slh.3	P30301		ENST00000257979.4:c.681C>A	12.37:g.56845175G>T						TIMELESS_uc001slf.2_5'Flank|TIMELESS_uc001slg.2_5'Flank	p.L227L	NM_012064	NP_036196	P30301	MIP_HUMAN			4	713	-			227			Cytoplasmic (By similarity).		Q17R41	Silent	SNP	ENST00000257979.4	37	c.681C>A	CCDS8919.1																																																																																				PASS	0.522	MIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409620.1	NM_012064		34	155	34	155	---	---	---	---
HELB	92797	broad.mit.edu	37	12	66725399	66725399	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr12:66725399G>T	ENST00000247815.4	+	12	3195	c.3136G>T	c.(3136-3138)Gat>Tat	p.D1046Y		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1046					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.D1046Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TGTGAATGATGATGAAAGTCC	0.373																																						uc001sti.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(3136-3138)GAT>TAT		helicase (DNA) B							82.0	84.0	83.0					12																	66725399		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66725399G>T	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.3136G>T	12.37:g.66725399G>T	ENSP00000247815:p.Asp1046Tyr					HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	p.D1046Y	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	12	3164	+			1046					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.3136G>T	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	G	5.519	0.280736	0.10458	.	.	ENSG00000127311	ENST00000247815	T	0.12039	2.72	4.97	-3.08	0.05347	.	1.479880	0.04065	N	0.307076	T	0.07188	0.0182	N	0.25647	0.755	0.09310	N	1	P	0.35982	0.531	B	0.24701	0.055	T	0.29336	-1.0015	9	.	.	.	2.0309	4.2542	0.10708	0.2588:0.0:0.3709:0.3703	.	1046	Q8NG08	HELB_HUMAN	Y	1046	ENSP00000247815:D1046Y	.	D	+	1	0	HELB	65011666	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.035000	0.12205	-0.344000	0.08338	0.655000	0.94253	GAT		PASS	0.373	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			4	65	4	65	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72030283	72030283	+	Missense_Mutation	SNP	C	C	T	rs373974920		TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr12:72030283C>T	ENST00000378743.3	-	9	2445	c.2087G>A	c.(2086-2088)cGa>cAa	p.R696Q	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	696					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R696Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GATCACAGTTCGTGGAAGACG	0.383																																						uc001swo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(2086-2088)CGA>CAA		proline/serine-rich coiled-coil 2		C	GLN/ARG	1,3643		0,1,1821	123.0	111.0	115.0		2087	5.6	1.0	12		115	0,8160		0,0,4080	no	missense	ZFC3H1	NM_144982.4	43	0,1,5901	TT,TC,CC		0.0,0.0274,0.0085	probably-damaging	696/1990	72030283	1,11803	1822	4080	5902	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72030283C>T	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.2087G>A	12.37:g.72030283C>T	ENSP00000368017:p.Arg696Gln						p.R696Q	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			9	2446	-			696					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.2087G>A	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820850	0.90873	2.74E-4	0.0	ENSG00000133858	ENST00000378743	T	0.53423	0.62	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000002	T	0.55847	0.1946	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.49643	-0.8918	10	0.22109	T	0.4	.	19.5216	0.95187	0.0:1.0:0.0:0.0	.	696	O60293	ZC3H1_HUMAN	Q	696	ENSP00000368017:R696Q	ENSP00000368017:R696Q	R	-	2	0	ZFC3H1	70316550	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.677000	0.68142	2.602000	0.87976	0.591000	0.81541	CGA		PASS	0.383	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		9	68	9	68	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	99837495	99837495	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr12:99837495G>C	ENST00000547776.2	-	11	1530	c.1531C>G	c.(1531-1533)Cct>Gct	p.P511A	ANKS1B_ENST00000547010.1_Missense_Mutation_p.P91A|ANKS1B_ENST00000329257.7_Missense_Mutation_p.P511A	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	511						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.P511A(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GCAGTATCAGGGGATGGAGGT	0.428																																						uc001tge.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1531-1533)CCT>GCT		cajalin 2 isoform a							179.0	175.0	176.0					12																	99837495		1901	4115	6016	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99837495G>C	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1531C>G	12.37:g.99837495G>C	ENSP00000449629:p.Pro511Ala					ANKS1B_uc001tgf.1_Missense_Mutation_p.P91A|ANKS1B_uc009ztt.1_Missense_Mutation_p.P477A	p.P511A	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	11	1948	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	511					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.1531C>G	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997501	0.74818	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.62498	0.89;0.02;0.89;0.75	6.04	6.04	0.98038	.	0.134986	0.49305	D	0.000142	T	0.73241	0.3562	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.996;0.997;0.991	T	0.68723	-0.5333	9	.	.	.	-8.8422	18.7754	0.91910	0.0:0.0:1.0:0.0	.	477;91;511	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	A	511;91;511;90;477	ENSP00000449629:P511A;ENSP00000448512:P91A;ENSP00000331381:P511A;ENSP00000449894:P477A	.	P	-	1	0	ANKS1B	98361626	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.328000	0.90014	2.873000	0.98535	0.563000	0.77884	CCT		PASS	0.428	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		10	80	10	80	---	---	---	---
SCYL2	55681	broad.mit.edu	37	12	100729439	100729439	+	Silent	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr12:100729439G>A	ENST00000360820.2	+	15	2336	c.1899G>A	c.(1897-1899)gaG>gaA	p.E633E		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	633					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)	p.E637E(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ATGTTTCTGAGGAGATGAAAG	0.313																																						uc001thn.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|skin(1)	6						c.(1897-1899)GAG>GAA		SCY1-like 2 protein							78.0	84.0	82.0					12																	100729439		2202	4299	6501	SO:0001819	synonymous_variant	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100729439G>A	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1899G>A	12.37:g.100729439G>A						SCYL2_uc001thm.1_Silent_p.E633E	p.E633E	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN			15	1949	+			633					A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Silent	SNP	ENST00000360820.2	37	c.1899G>A	CCDS9076.1																																																																																				PASS	0.313	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		5	73	5	73	---	---	---	---
PWP1	11137	broad.mit.edu	37	12	108105954	108105954	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr12:108105954G>C	ENST00000412830.3	+	15	1631	c.1463G>C	c.(1462-1464)gGc>gCc	p.G488A	PWP1_ENST00000541166.1_Missense_Mutation_p.G426A	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	488					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.G488A(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TCTATTAGTGGCCCTTTTGGC	0.383																																						uc001tmo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1462-1464)GGC>GCC		periodic tryptophan protein 1							140.0	132.0	135.0					12																	108105954		2203	4300	6503	SO:0001583	missense	11137				transcription, DNA-dependent	nucleus		g.chr12:108105954G>C	BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"""WD repeat domain containing"""	17015	protein-coding gene	gene with protein product	"""endonuclein"""					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.1463G>C	12.37:g.108105954G>C	ENSP00000387365:p.Gly488Ala					PWP1_uc009zuu.1_3'UTR	p.G488A	NM_007062	NP_008993	Q13610	PWP1_HUMAN			15	1550	+			488					A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	37	c.1463G>C	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563994	0.27915	.	.	ENSG00000136045	ENST00000412830;ENST00000541166	T;T	0.69685	-0.4;-0.42	5.86	4.96	0.65561	.	0.484882	0.25450	N	0.030593	T	0.51210	0.1661	N	0.22421	0.69	0.36534	D	0.87092	B	0.16603	0.018	B	0.19391	0.025	T	0.51756	-0.8665	10	0.08837	T	0.75	.	15.3575	0.74440	0.0683:0.0:0.9317:0.0	.	488	Q13610	PWP1_HUMAN	A	488;426	ENSP00000387365:G488A;ENSP00000445249:G426A	ENSP00000387365:G488A	G	+	2	0	PWP1	106630084	1.000000	0.71417	0.994000	0.49952	0.390000	0.30446	3.414000	0.52693	1.595000	0.50050	0.650000	0.86243	GGC		PASS	0.383	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062		13	97	13	97	---	---	---	---
CCDC63	160762	broad.mit.edu	37	12	111311754	111311754	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr12:111311754C>T	ENST00000308208.5	+	5	720	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Missense_Mutation_p.R120C|CCDC63_ENST00000552694.1_Missense_Mutation_p.R81C	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	160								p.R160C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TTTGGAAACCCGTTTGAATCT	0.433																																						uc001trv.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|pancreas(1)	8						c.(478-480)CGT>TGT		coiled-coil domain containing 63							109.0	113.0	112.0					12																	111311754		2203	4300	6503	SO:0001583	missense	160762							g.chr12:111311754C>T	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.478C>T	12.37:g.111311754C>T	ENSP00000312399:p.Arg160Cys					CCDC63_uc009zvt.1_Missense_Mutation_p.R75C|CCDC63_uc010sye.1_Missense_Mutation_p.R120C|CCDC63_uc001trw.1_Missense_Mutation_p.R75C	p.R160C	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN			5	673	+			160			Potential.		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	37	c.478C>T	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324221	0.41197	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.55234	0.53;0.57;0.54	5.8	4.91	0.64330	.	0.232564	0.40908	D	0.000985	T	0.49457	0.1558	M	0.77103	2.36	0.31989	N	0.604885	P;P	0.37824	0.609;0.609	B;B	0.26202	0.067;0.067	T	0.65170	-0.6233	10	0.54805	T	0.06	.	12.456	0.55704	0.1667:0.8333:0.0:0.0	.	120;160	B4DY03;Q8NA47	.;CCD63_HUMAN	C	120;160;81	ENSP00000445881:R120C;ENSP00000312399:R160C;ENSP00000450217:R81C	ENSP00000312399:R160C	R	+	1	0	CCDC63	109796137	0.847000	0.29606	0.247000	0.24249	0.554000	0.35429	1.983000	0.40648	1.429000	0.47314	0.585000	0.79938	CGT		PASS	0.433	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		21	170	21	170	---	---	---	---
RASAL1	8437	broad.mit.edu	37	12	113543637	113543637	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr12:113543637C>A	ENST00000261729.5	-	17	2024	c.1709G>T	c.(1708-1710)gGc>gTc	p.G570V	RASAL1_ENST00000548055.1_Missense_Mutation_p.G571V|RASAL1_ENST00000546530.1_Missense_Mutation_p.G572V|RASAL1_ENST00000446861.3_Missense_Mutation_p.G570V|RASAL1_ENST00000418411.2_5'UTR			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	570	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.G570V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CAGCAGATAGCCTTCTCGAAC	0.632																																						uc001tum.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1708-1710)GGC>GTC		RAS protein activator like 1							65.0	70.0	68.0					12																	113543637		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113543637C>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1709G>T	12.37:g.113543637C>A	ENSP00000261729:p.Gly570Val					RASAL1_uc010syp.1_Missense_Mutation_p.G571V|RASAL1_uc001tul.2_Missense_Mutation_p.G570V|RASAL1_uc001tun.1_Missense_Mutation_p.G572V|RASAL1_uc010syq.1_Missense_Mutation_p.G571V|RASAL1_uc001tuo.3_Missense_Mutation_p.G571V	p.G570V	NM_004658	NP_004649	O95294	RASL1_HUMAN			17	2002	-			570			PH.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.1709G>T	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934288	0.73442	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	D;D;T;D	0.99194	-5.54;-5.54;2.24;-5.54	5.21	5.21	0.72293	Rho GTPase activation protein (1);Pleckstrin homology-type (1);Pleckstrin homology domain (3);Ras GTPase-activating protein (1);	0.056721	0.64402	D	0.000001	D	0.99275	0.9747	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D;D	0.76494	0.995;0.999;0.999;0.998;0.998;0.999	D;D;D;D;D;D	0.74023	0.941;0.959;0.976;0.969;0.982;0.959	D	0.99372	1.0920	10	0.87932	D	0	.	17.5245	0.87795	0.0:1.0:0.0:0.0	.	571;571;584;572;570;570	B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;RASL1_HUMAN;.	V	572;570;570;571	ENSP00000450244:G572V;ENSP00000261729:G570V;ENSP00000395920:G570V;ENSP00000448510:G571V	ENSP00000261729:G570V	G	-	2	0	RASAL1	112028020	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	7.253000	0.78320	2.436000	0.82500	0.455000	0.32223	GGC		PASS	0.632	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		12	108	12	108	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23908856	23908856	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr13:23908856C>A	ENST00000382292.3	-	9	9432	c.9159G>T	c.(9157-9159)gaG>gaT	p.E3053D	SACS_ENST00000402364.1_Missense_Mutation_p.E2303D|SACS_ENST00000382298.3_Missense_Mutation_p.E3053D			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3053					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.E2906D(1)|p.E3053D(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TATAGACATTCTCTGCTACTG	0.328																																						uc001uon.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(9157-9159)GAG>GAT		sacsin							117.0	112.0	113.0					13																	23908856		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23908856C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9159G>T	13.37:g.23908856C>A	ENSP00000371729:p.Glu3053Asp					SACS_uc001uoo.2_Missense_Mutation_p.E2906D|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.E3053D	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	9748	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3053					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.9159G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687751	0.48097	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88509	-2.24;-2.39;-2.24	5.64	1.45	0.22620	.	0.000000	0.85682	D	0.000000	D	0.85940	0.5814	L	0.43152	1.355	0.32493	N	0.539883	D	0.63880	0.993	P	0.52758	0.708	D	0.83576	0.0115	10	0.28530	T	0.3	.	6.735	0.23405	0.0:0.3646:0.0:0.6354	.	3053	Q9NZJ4	SACS_HUMAN	D	3053;2303;3053	ENSP00000371729:E3053D;ENSP00000385844:E2303D;ENSP00000371735:E3053D	ENSP00000371729:E3053D	E	-	3	2	SACS	22806856	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.074000	0.41529	0.337000	0.23665	0.555000	0.69702	GAG		PASS	0.328	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		16	57	16	57	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25670679	25670679	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr13:25670679C>G	ENST00000281589.3	+	1	380	c.343C>G	c.(343-345)Ctg>Gtg	p.L115V		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	115	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.L115V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TAATAAAGCACTGTATGATAC	0.388																																						uc001upy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(343-345)CTG>GTG		poly(A) binding protein, cytoplasmic 3							132.0	126.0	128.0					13																	25670679		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25670679C>G	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.343C>G	13.37:g.25670679C>G	ENSP00000281589:p.Leu115Val						p.L115V	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	404	+		Lung SC(185;0.0225)|Breast(139;0.0602)	115			RRM 2.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.343C>G	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826692	0.32329	.	.	ENSG00000151846	ENST00000281589	T	0.42131	0.98	0.546	0.546	0.17196	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.36034	U	0.002826	T	0.50514	0.1620	M	0.76574	2.34	0.38922	D	0.957767	P	0.46277	0.875	P	0.53861	0.736	T	0.54516	-0.8282	10	0.72032	D	0.01	.	6.848	0.23998	0.0:0.9999:0.0:1.0E-4	.	115	Q9H361	PABP3_HUMAN	V	115	ENSP00000281589:L115V	ENSP00000281589:L115V	L	+	1	2	PABPC3	24568679	0.914000	0.31030	0.105000	0.21289	0.016000	0.09150	0.787000	0.26858	0.558000	0.29135	0.305000	0.20034	CTG		PASS	0.388	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		24	83	24	83	---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29599636	29599636	+	Silent	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr13:29599636G>A	ENST00000431530.3	+	1	889	c.831G>A	c.(829-831)ctG>ctA	p.L277L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	267						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.L277L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CACATGTACTGCAGGTGTGCA	0.507																																						uc001usl.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(829-831)CTG>CTA		hypothetical protein LOC23281 isoform a							46.0	47.0	46.0					13																	29599636		2165	4274	6439	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599636G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.831G>A	13.37:g.29599636G>A							p.L277L	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	889	+			267					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.831G>A	CCDS45022.1																																																																																				PASS	0.507	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		8	18	8	18	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518491	108518491	+	Silent	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr13:108518491G>T	ENST00000375915.2	-	1	592	c.454C>A	c.(454-456)Cgg>Agg	p.R152R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	152						integral component of membrane (GO:0016021)		p.R152R(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCCTTGCCCCGGTCGTCTTTG	0.692																																						uc001vql.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(454-456)CGG>AGG		family with sequence similarity 155, member A							11.0	16.0	15.0					13																	108518491		2117	4140	6257	SO:0001819	synonymous_variant	728215					integral to membrane	binding	g.chr13:108518491G>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.454C>A	13.37:g.108518491G>T							p.R152R	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			1	970	-			152					B2RUV1|B7Z334	Silent	SNP	ENST00000375915.2	37	c.454C>A	CCDS32006.1																																																																																				PASS	0.692	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		15	39	15	39	---	---	---	---
TFDP1	7027	broad.mit.edu	37	13	114290937	114290937	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr13:114290937G>C	ENST00000375370.5	+	10	1140	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	TFDP1_ENST00000544902.1_Missense_Mutation_p.E215Q|TFDP1_ENST00000538138.1_Missense_Mutation_p.E215Q	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	310	DCB2.|Enhances binding of RB protein to E2F.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.E310Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TTGCGGGCTGGAGTCGGGGAG	0.507										TSP Lung(29;0.18)																												uc001vtw.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|skin(1)	7						c.(928-930)GAG>CAG		transcription factor Dp-1							64.0	63.0	63.0					13																	114290937		2203	4300	6503	SO:0001583	missense	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114290937G>C	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.928G>C	13.37:g.114290937G>C	ENSP00000364519:p.Glu310Gln	TSP Lung(29;0.18)				TFDP1_uc010tkd.1_Missense_Mutation_p.E215Q|TFDP1_uc010tke.1_Missense_Mutation_p.E215Q|TFDP1_uc001vty.3_Missense_Mutation_p.E310Q|TFDP1_uc001vtx.2_Missense_Mutation_p.E190Q	p.E310Q	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		10	1140	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	310			DCB2.|Enhances binding of RB protein to E2F.		B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	c.928G>C	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361237	0.61403	.	.	ENSG00000198176	ENST00000538138;ENST00000375370;ENST00000544902	T;T;T	0.53640	0.61;1.36;0.69	4.57	3.72	0.42706	Transcription factor DP, C-terminal (1);	0.046527	0.85682	D	0.000000	T	0.69187	0.3083	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.87578	0.934;0.977;0.971;0.998	T	0.73519	-0.3957	10	0.87932	D	0	.	12.4342	0.55590	0.0823:0.0:0.9176:0.0	.	215;215;215;310	F5H452;B4DLQ9;B7Z569;Q14186	.;.;.;TFDP1_HUMAN	Q	215;310;215	ENSP00000443878:E215Q;ENSP00000364519:E310Q;ENSP00000438450:E215Q	ENSP00000364519:E310Q	E	+	1	0	TFDP1	113338938	1.000000	0.71417	0.902000	0.35471	0.255000	0.26057	8.857000	0.92250	0.906000	0.36621	0.491000	0.48974	GAG		PASS	0.507	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		15	47	15	47	---	---	---	---
PAX9	5083	broad.mit.edu	37	14	37132593	37132593	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr14:37132593A>G	ENST00000361487.6	+	2	721	c.496A>G	c.(496-498)Atc>Gtc	p.I166V	PAX9_ENST00000402703.2_Missense_Mutation_p.I166V|PAX9_ENST00000554201.1_5'UTR			P55771	PAX9_HUMAN	paired box 9	166					cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.I166V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CCCCAGCCCTATCACGGCGGC	0.682																																						uc001wty.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(496-498)ATC>GTC		paired box 9							36.0	34.0	35.0					14																	37132593		2202	4300	6502	SO:0001583	missense	5083				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr14:37132593A>G	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.496A>G	14.37:g.37132593A>G	ENSP00000355245:p.Ile166Val					PAX9_uc010amq.2_5'Flank	p.I166V	NM_006194	NP_006185	P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	3	1213	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		166					Q99582|Q9UQR4	Missense_Mutation	SNP	ENST00000361487.6	37	c.496A>G	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.632911	0.47049	.	.	ENSG00000198807	ENST00000402703;ENST00000361487	D;D	0.98732	-5.1;-5.1	5.25	5.25	0.73442	.	0.088610	0.47852	D	0.000207	D	0.97999	0.9341	L	0.48642	1.525	0.80722	D	1	P	0.43314	0.803	P	0.55824	0.785	D	0.98325	1.0530	10	0.08599	T	0.76	.	15.1383	0.72586	1.0:0.0:0.0:0.0	.	166	P55771	PAX9_HUMAN	V	166	ENSP00000384817:I166V;ENSP00000355245:I166V	ENSP00000355245:I166V	I	+	1	0	PAX9	36202344	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.839000	0.75364	1.978000	0.57642	0.459000	0.35465	ATC		PASS	0.682	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			10	41	10	41	---	---	---	---
SYT16	83851	broad.mit.edu	37	14	62547935	62547935	+	Silent	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr14:62547935G>A	ENST00000430451.2	+	4	1574	c.1377G>A	c.(1375-1377)ctG>ctA	p.L459L	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	459					exocytosis (GO:0006887)			p.L439L(1)|p.L459L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TCAGCCACCTGCACCCAGAAG	0.502																																						uc001xfu.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(1375-1377)CTG>CTA		synaptotagmin XIV-like							30.0	32.0	31.0					14																	62547935		2108	4244	6352	SO:0001819	synonymous_variant	83851							g.chr14:62547935G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1377G>A	14.37:g.62547935G>A						SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_Silent_p.L17L	p.L459L	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	4	1574	+			459					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	ENST00000430451.2	37	c.1377G>A	CCDS45121.1																																																																																				PASS	0.502	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		15	30	15	30	---	---	---	---
ADAM20	8748	broad.mit.edu	37	14	70991290	70991290	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr14:70991290G>A	ENST00000256389.3	-	2	579	c.335C>T	c.(334-336)tCc>tTc	p.S112F	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	62					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S112F(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CAGGCTATAGGAGAGCCATCC	0.527																																						uc001xme.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(334-336)TCC>TTC		ADAM metallopeptidase domain 20 preproprotein							105.0	84.0	91.0					14																	70991290		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991290G>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.335C>T	14.37:g.70991290G>A	ENSP00000256389:p.Ser112Phe						p.S112F	NM_003814	NP_003805	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	580	-			62					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.335C>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169903	0.38315	.	.	ENSG00000134007	ENST00000256389	T	0.06528	3.29	4.14	4.14	0.48551	Peptidase M12B, propeptide (1);	0.000000	0.38111	U	0.001808	T	0.34019	0.0883	H	0.95745	3.715	0.24129	N	0.995773	D	0.89917	1.0	D	0.87578	0.998	T	0.36866	-0.9730	10	0.87932	D	0	.	11.9821	0.53125	0.0:0.1745:0.8255:0.0	.	62	O43506	ADA20_HUMAN	F	112	ENSP00000256389:S112F	ENSP00000256389:S112F	S	-	2	0	ADAM20	70061043	1.000000	0.71417	0.998000	0.56505	0.196000	0.23810	3.937000	0.56575	2.292000	0.77174	0.650000	0.86243	TCC		PASS	0.527	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			24	60	24	60	---	---	---	---
PROX2	283571	broad.mit.edu	37	14	75321889	75321889	+	Silent	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr14:75321889C>T	ENST00000445876.1	-	5	1724	c.1725G>A	c.(1723-1725)tcG>tcA	p.S575S	RP11-316E14.6_ENST00000553381.1_RNA|PROX2_ENST00000556489.2_Silent_p.S575S|PROX2_ENST00000556084.2_Silent_p.S348S			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	575	Prospero-like.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S575S(1)		kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TGTCCAGTTTCGAAATAATTT	0.473																																						uc001xqr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1723-1725)TCG>TCA		prospero homeobox 2							61.0	57.0	59.0					14																	75321889		1824	4075	5899	SO:0001819	synonymous_variant	283571				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:75321889C>T		CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.1725G>A	14.37:g.75321889C>T						uc001xqp.1_5'Flank|PROX2_uc001xqq.1_Silent_p.S274S	p.S575S	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	4	1725	-			575			Prospero-like.		C9J5W1|Q8N9Q3	Silent	SNP	ENST00000445876.1	37	c.1725G>A	CCDS45136.2	.	.	.	.	.	.	.	.	.	.	C	9.522	1.108521	0.20714	.	.	ENSG00000119608	ENST00000556084	.	.	.	5.22	-4.09	0.03951	.	.	.	.	.	T	0.48314	0.1493	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47923	-0.9079	4	.	.	.	.	6.4543	0.21920	0.0872:0.1263:0.5557:0.2308	.	.	.	.	Q	348	.	.	R	-	2	0	PROX2	74391642	0.267000	0.24122	0.990000	0.47175	0.996000	0.88848	-0.309000	0.08145	-0.356000	0.08187	0.462000	0.41574	CGA		PASS	0.473	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				3	19	3	19	---	---	---	---
SPTLC2	9517	broad.mit.edu	37	14	78021768	78021768	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr14:78021768C>A	ENST00000216484.2	-	8	1244	c.1051G>T	c.(1051-1053)Gcc>Tcc	p.A351S	SPTLC2_ENST00000556264.1_5'Flank	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	351					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.A351S(1)		kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	GGGCCCAGGGCGCCAATGCTG	0.522																																						uc001xub.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1051-1053)GCC>TCC		serine palmitoyltransferase, long chain base	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						89.0	93.0	92.0					14																	78021768		2203	4300	6503	SO:0001583	missense	9517					integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr14:78021768C>A	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.1051G>T	14.37:g.78021768C>A	ENSP00000216484:p.Ala351Ser						p.A351S	NM_004863	NP_004854	O15270	SPTC2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	8	1239	-			351					Q16685	Missense_Mutation	SNP	ENST00000216484.2	37	c.1051G>T	CCDS9865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.761965|4.761965	0.89932|0.89932	.|.	.|.	ENSG00000100596|ENSG00000100596	ENST00000216484|ENST00000554901	D|.	0.91351|.	-2.83|.	4.89|4.89	4.89|4.89	0.63831|0.63831	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.098770|.	0.64402|.	D|.	0.000001|.	T|T	0.73241|0.73241	0.3562|0.3562	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	P|.	0.44734|.	0.842|.	P|.	0.46339|.	0.513|.	T|T	0.71286|0.71286	-0.4638|-0.4638	10|5	0.51188|.	T|.	0.08|.	-13.1964|-13.1964	18.6117|18.6117	0.91288|0.91288	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	351|.	O15270|.	SPTC2_HUMAN|.	S|L	351|287	ENSP00000216484:A351S|.	ENSP00000216484:A351S|.	A|R	-|-	1|2	0|0	SPTLC2|SPTLC2	77091521|77091521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.755000|5.755000	0.68750|0.68750	2.712000|2.712000	0.92718|0.92718	0.650000|0.650000	0.86243|0.86243	GCC|CGC		PASS	0.522	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		25	95	25	95	---	---	---	---
TCL1B	9623	broad.mit.edu	37	14	96152950	96152951	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr14:96152950_96152951CC>AA	ENST00000340722.7	+	1	197_198	c.146_147CC>AA	c.(145-147)gCC>gAA	p.A49E	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	49								p.A49D(1)|p.A49E(1)|p.A49A(1)		cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TGGGCCAGGGCCTCCCAGGGCA	0.673																																						uc001yez.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(145-147)GCC>GAC|c.(145-147)GCC>GCA		T-cell leukemia/lymphoma 1B																																				SO:0001583	missense	9623							g.chr14:96152950C>A|g.chr14:96152951C>A	AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	Exception_encountered	14.37:g.96152950_96152951delinsAA	ENSP00000343223:p.Ala49Glu					TCL1B_uc001yew.2_Intron|TCL1B_uc001yex.2_Intron|TCL1B_uc010avj.2_Intron|TCL1B_uc001yfa.2_Missense_Mutation_p.A49D|TCL1B_uc001yew.2_Intron|TCL1B_uc001yex.2_Intron|TCL1B_uc010avj.2_Intron|TCL1B_uc001yfa.2_Silent_p.A49A	p.A49D|p.A49A	NM_004918	NP_004909	O95988	TCL1B_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	1	188|189	+		all_cancers(154;0.103)	49					A6NEK7|Q6IAR7|Q9UBQ4	Missense_Mutation|Silent	SNP	ENST00000340722.7	37	c.146C>A|c.147C>A	CCDS32151.1																																																																																				PASS	0.673	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315123.2			12	29|28	12	28	---	---	---	---
IGHV3-15	28448	broad.mit.edu	37	14	106610496	106610496	+	RNA	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr14:106610496C>G	ENST00000390603.2	-	0	253									immunoglobulin heavy variable 3-15									p.Q58H(1)									TCCCTGGAGCCTGGCGGACCC	0.567																																						uc010tyt.1																			1	Substitution - Missense(1)		lung(1)		0								Parts of antibodies, mostly variable regions.							75.0	71.0	72.0					14																	106610496		1845	4080	5925			8755							g.chr14:106610496C>G	X92216		14q32.33	2012-02-10			ENSG00000211943	ENSG00000211943		"""Immunoglobulins / IGH locus"""	5582	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152282		14.37:g.106610496C>G														1167		-									RNA	SNP	ENST00000390603.2	37	c.26335G>C																																																																																					PASS	0.567	IGHV3-15-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325670.1	NG_001019		5	92	5	92	---	---	---	---
NDN	4692	broad.mit.edu	37	15	23931528	23931528	+	Silent	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr15:23931528C>A	ENST00000331837.4	-	1	922	c.837G>T	c.(835-837)ctG>ctT	p.L279L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	279	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L279L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGACCCTGGCCAGGAACTCCA	0.602									Prader-Willi syndrome																													uc001ywk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(835-837)CTG>CTT		necdin							29.0	32.0	31.0					15																	23931528		2202	4300	6502	SO:0001819	synonymous_variant	4692	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931528C>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.837G>T	15.37:g.23931528C>A							p.L279L	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	923	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	279			MAGE.		B2R6Z5	Silent	SNP	ENST00000331837.4	37	c.837G>T	CCDS10014.1																																																																																				PASS	0.602	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		7	49	7	49	---	---	---	---
CEP152	22995	broad.mit.edu	37	15	49048099	49048100	+	Splice_Site	DNP	CC	CC	AA			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr15:49048099_49048100CC>AA	ENST00000380950.2	-	20	3532_3533	c.3345_3346GG>TT	c.(3343-3348)aaGGga>aaTTga	p.1115_1116KG>N*	CEP152_ENST00000325747.5_Splice_Site_p.1022_1023KG>N*|CEP152_ENST00000399334.3_Splice_Site_p.1115_1116KG>N*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1115					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.?(2)|p.K1115N(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CAGGAACATACCTTTTTCCATT	0.342																																						uc001zwy.2																			3	Unknown(2)|Substitution - Missense(1)		lung(3)	lung(2)	2						c.e20+1|c.(3343-3345)AAG>AAT		centrosomal protein 152kDa																																				SO:0001630	splice_region_variant	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49048099C>A|g.chr15:49048100C>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3345_3346delinsAA	15.37:g.49048099_49048100delinsAA						CEP152_uc001zwz.2_Splice_Site_p.K1115_splice|CEP152_uc001zxa.1_Splice_Site_p.K1022_splice|CEP152_uc001zwz.2_Missense_Mutation_p.K1115N|CEP152_uc001zxa.1_Missense_Mutation_p.K1022N	p.K1115_splice|p.K1115N	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	20	3379	-		all_lung(180;0.0428)	|1115					E7ER66|Q17RV1|Q6NTA0	Splice_Site|Missense_Mutation	SNP	ENST00000380950.2	37	c.3345_splice|c.3345G>T	CCDS58361.1																																																																																				PASS	0.342	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	Nonsense_Mutation	13	102|103	13	102	---	---	---	---
SHC4	399694	broad.mit.edu	37	15	49254907	49254907	+	Silent	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr15:49254907C>T	ENST00000332408.4	-	1	734	c.306G>A	c.(304-306)ctG>ctA	p.L102L		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	102	CH2.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.L102L(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TTTTCAGACTCAGCAAAGTGG	0.607																																						uc001zxb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(304-306)CTG>CTA		rai-like protein							48.0	53.0	51.0					15																	49254907		2196	4294	6490	SO:0001819	synonymous_variant	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49254907C>T	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.306G>A	15.37:g.49254907C>T							p.L102L	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	1	735	-		all_lung(180;0.00466)	102			CH2.		Q6UXQ3|Q8IYW3	Silent	SNP	ENST00000332408.4	37	c.306G>A	CCDS10130.1																																																																																				PASS	0.607	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		13	82	13	82	---	---	---	---
GALK2	2585	broad.mit.edu	37	15	49584700	49584700	+	Silent	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr15:49584700C>G	ENST00000560031.1	+	8	1240	c.933C>G	c.(931-933)ctC>ctG	p.L311L	GALK2_ENST00000396509.2_Silent_p.L287L|GALK2_ENST00000327171.3_Silent_p.L300L|GALK2_ENST00000559454.1_Silent_p.L287L|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000544523.1_Silent_p.L287L|GALK2_ENST00000543495.1_Silent_p.L182L			Q01415	GALK2_HUMAN	galactokinase 2	311					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.L300L(1)|p.L311L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		TGGAGGAACTCCGAACCCAAA	0.458																																						uc001zxj.1																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(931-933)CTC>CTG		galactokinase 2 isoform 1							89.0	85.0	86.0					15																	49584700		2196	4295	6491	SO:0001819	synonymous_variant	2585				galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity	g.chr15:49584700C>G		CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.933C>G	15.37:g.49584700C>G						GALK2_uc001zxi.1_Silent_p.L300L|GALK2_uc010ufb.1_Silent_p.L287L|GALK2_uc001zxk.2_RNA|GALK2_uc010ufc.1_Silent_p.L287L	p.L311L	NM_002044	NP_002035	Q01415	GALK2_HUMAN		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)	8	1031	+		all_lung(180;0.000325)	311					Q7Z4Q4	Silent	SNP	ENST00000560031.1	37	c.933C>G	CCDS42034.1																																																																																				PASS	0.458	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417854.1			11	60	11	60	---	---	---	---
AP4E1	23431	broad.mit.edu	37	15	51217296	51217296	+	Splice_Site	SNP	A	A	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr15:51217296A>G	ENST00000261842.5	+	5	528	c.422A>G	c.(421-423)gAt>gGt	p.D141G	AP4E1_ENST00000560508.1_Splice_Site_p.D66G	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	141					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)		p.D141G(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTGTGCCAGGATCTGCAGAGC	0.373																																						uc001zyx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(421-423)GAT>GGT		adaptor-related protein complex 4, epsilon 1							129.0	117.0	121.0					15																	51217296		2196	4294	6490	SO:0001630	splice_region_variant	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51217296A>G	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.421-1A>G	15.37:g.51217296A>G						AP4E1_uc010ufi.1_Missense_Mutation_p.D141G|AP4E1_uc010ufj.1_RNA|AP4E1_uc010ufk.1_RNA	p.D141G	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	5	452	+			141					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.422A>G	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	A	19.10	3.762592	0.69763	.	.	ENSG00000081014	ENST00000261842	T	0.52295	0.67	5.53	5.53	0.82687	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67627	0.2913	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.996;1.0	T	0.69986	-0.4996	10	0.54805	T	0.06	-15.0317	14.8349	0.70175	1.0:0.0:0.0:0.0	.	141;141	B4DM48;Q9UPM8	.;AP4E1_HUMAN	G	141	ENSP00000261842:D141G	ENSP00000261842:D141G	D	+	2	0	AP4E1	49004588	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	8.932000	0.92897	2.099000	0.63709	0.377000	0.23210	GAT		PASS	0.373	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1		Missense_Mutation	4	74	4	74	---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52659307	52659307	+	Silent	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr15:52659307C>A	ENST00000399231.3	-	23	3324	c.3081G>T	c.(3079-3081)ctG>ctT	p.L1027L	MYO5A_ENST00000358212.6_Silent_p.L1027L|MYO5A_ENST00000553916.1_Silent_p.L1027L|MYO5A_ENST00000356338.6_Silent_p.L1027L|MYO5A_ENST00000399233.2_Silent_p.L1027L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1027					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.L1027L(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTTCTTCCTTCAGATTTGATA	0.423																																						uc002aby.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(3079-3081)CTG>CTT		myosin VA isoform 1							145.0	135.0	138.0					15																	52659307		1910	4126	6036	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52659307C>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3081G>T	15.37:g.52659307C>A						MYO5A_uc002abx.3_Silent_p.L1027L|MYO5A_uc010uge.1_Silent_p.L896L	p.L1027L	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	23	3325	-			1027			Potential.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.3081G>T	CCDS42037.1																																																																																				PASS	0.423	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		5	70	5	70	---	---	---	---
MYZAP	100820829	broad.mit.edu	37	15	57976616	57976616	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr15:57976616C>T	ENST00000267853.5	+	13	1415	c.1321C>T	c.(1321-1323)Cgt>Tgt	p.R441C	GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000380569.2_Intron|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000587652.1_Intron|GCOM1_ENST00000380560.2_Missense_Mutation_p.R372C|GCOM1_ENST00000572390.1_Missense_Mutation_p.R413C|GCOM1_ENST00000484300.1_3'UTR|MYZAP_ENST00000380565.4_Missense_Mutation_p.R413C|GCOM1_ENST00000396180.1_Missense_Mutation_p.R410C|GCOM1_ENST00000574161.1_Missense_Mutation_p.R441C			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	441					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)		p.R441C(1)									AGGCAGGACTCGTGAAATTGT	0.428																																						uc002aei.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1321-1323)CGT>TGT		GRINL1A upstream protein isoform 7							107.0	108.0	108.0					15																	57976616		2192	4292	6484	SO:0001583	missense	145781				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57976616C>T	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.1321C>T	15.37:g.57976616C>T	ENSP00000267853:p.Arg441Cys					GCOM1_uc002aej.2_Missense_Mutation_p.R413C|GCOM1_uc002aek.2_Intron|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Intron|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_Intron|GCOM1_uc010bfy.2_Intron|GCOM1_uc002aeo.2_Intron|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_Intron|GCOM1_uc002aer.1_RNA|GRINL1A_uc002aes.2_5'UTR	p.R441C	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN			13	1440	+			441					D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	c.1321C>T	CCDS10162.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.382035|4.382035	0.82792|0.82792	.|.	.|.	ENSG00000137878|ENSG00000137878	ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565|ENST00000461709	T;T;T;T|T	0.26957|0.30981	1.81;1.82;1.79;1.7|1.51	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|.	.|.	.|.	.|.	T|T	0.34279|0.34279	0.0892|0.0892	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.997|.	P;P|.	0.53861|.	0.736;0.736|.	T|T	0.10019|0.10019	-1.0648|-1.0648	9|7	0.66056|0.87932	D|D	0.02|0	.|.	15.4858|15.4858	0.75564|0.75564	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	413;441|.	P0CAP1-4;P0CAP1|.	.;GCOM1_HUMAN|.	C|L	410;372;441;413|122	ENSP00000379483:R410C;ENSP00000369933:R372C;ENSP00000267853:R441C;ENSP00000369939:R413C|ENSP00000431396:S122L	ENSP00000267853:R441C|ENSP00000431396:S122L	R|S	+|+	1|2	0|0	GCOM1|GCOM1	55763908|55763908	0.998000|0.998000	0.40836|0.40836	0.999000|0.999000	0.59377|0.59377	0.862000|0.862000	0.49288|0.49288	4.205000|4.205000	0.58466|0.58466	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	CGT|TCG		PASS	0.428	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		5	115	5	115	---	---	---	---
NEO1	4756	broad.mit.edu	37	15	73536809	73536809	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr15:73536809G>T	ENST00000339362.5	+	10	2023	c.1576G>T	c.(1576-1578)Gct>Tct	p.A526S	NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000261908.6_Missense_Mutation_p.A526S|NEO1_ENST00000560262.1_Missense_Mutation_p.A526S|NEO1_ENST00000558964.1_Missense_Mutation_p.A526S			Q92859	NEO1_HUMAN	neogenin 1	526	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.A526S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AGAGAGTTCAGCTCCACTGCG	0.483																																						uc002avm.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1576-1578)GCT>TCT		neogenin homolog 1 precursor							117.0	101.0	106.0					15																	73536809		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73536809G>T	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1576G>T	15.37:g.73536809G>T	ENSP00000341198:p.Ala526Ser					NEO1_uc010ukx.1_Missense_Mutation_p.A526S|NEO1_uc010uky.1_Missense_Mutation_p.A526S|NEO1_uc010ukz.1_5'UTR|NEO1_uc002avn.3_Missense_Mutation_p.A191S	p.A526S	NM_002499	NP_002490	Q92859	NEO1_HUMAN			9	1718	+			526			Extracellular (Potential).|Fibronectin type-III 1.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.1576G>T	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927363	0.34002	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.42513	0.97;0.97	5.68	3.63	0.41609	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.329961	0.35772	N	0.002992	T	0.29817	0.0745	N	0.26092	0.79	0.25422	N	0.98826	B;B;B;B	0.11235	0.002;0.0;0.0;0.004	B;B;B;B	0.29077	0.051;0.015;0.013;0.098	T	0.19321	-1.0309	10	0.09843	T	0.71	-17.0103	12.7881	0.57518	0.0:0.2196:0.6704:0.11	.	526;526;264;526	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	S	526;264;526	ENSP00000341198:A526S;ENSP00000261908:A526S	ENSP00000261908:A526S	A	+	1	0	NEO1	71323862	0.897000	0.30589	0.995000	0.50966	0.407000	0.30961	2.598000	0.46223	1.355000	0.45865	0.650000	0.86243	GCT		PASS	0.483	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		14	73	14	73	---	---	---	---
MAN2A2	4122	broad.mit.edu	37	15	91448578	91448578	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr15:91448578A>T	ENST00000559717.1	+	3	689	c.230A>T	c.(229-231)gAg>gTg	p.E77V	MAN2A2_ENST00000431652.2_5'Flank|MAN2A2_ENST00000360468.3_Missense_Mutation_p.E77V			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	77					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.E77V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TCCGTGCTGGAGCTGACAGCC	0.597																																						uc010bnz.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)	3						c.(229-231)GAG>GTG		mannosidase, alpha, class 2A, member 2							56.0	61.0	60.0					15																	91448578		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91448578A>T	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.230A>T	15.37:g.91448578A>T	ENSP00000452948:p.Glu77Val					MAN2A2_uc010boa.2_Missense_Mutation_p.E119V|MAN2A2_uc002bqc.2_Missense_Mutation_p.E77V|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank	p.E77V	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		3	345	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		77			Lumenal (Potential).		A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.230A>T	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.467444	0.84533	.	.	ENSG00000196547	ENST00000360468	T	0.79247	-1.25	6.0	4.88	0.63580	.	0.095988	0.64402	D	0.000001	D	0.82604	0.5073	L	0.47716	1.5	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.69479	0.964;0.885	T	0.82212	-0.0569	10	0.49607	T	0.09	-38.5027	11.6985	0.51556	0.9309:0.0:0.0691:0.0	.	77;77	P49641-1;P49641	.;MA2A2_HUMAN	V	77	ENSP00000353655:E77V	ENSP00000353655:E77V	E	+	2	0	MAN2A2	89249582	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.157000	0.94714	1.118000	0.41863	0.454000	0.30748	GAG		PASS	0.597	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		10	91	10	91	---	---	---	---
MLST8	64223	broad.mit.edu	37	16	2256502	2256502	+	Silent	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr16:2256502C>T	ENST00000569417.1	+	4	540	c.186C>T	c.(184-186)taC>taT	p.Y62Y	MLST8_ENST00000301724.10_Silent_p.Y62Y|MLST8_ENST00000564088.1_Silent_p.Y62Y|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000301725.7_Silent_p.Y81Y|MLST8_ENST00000565250.1_Silent_p.Y62Y|MLST8_ENST00000397124.1_Silent_p.Y62Y|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000382450.4_Silent_p.Y61Y	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	62					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.Y62Y(3)		large_intestine(3)|lung(2)|skin(1)	6						CCCTAGGTTACCAGCACATCC	0.527																																						uc002coz.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(184-186)TAC>TAT		G protein beta subunit-like							205.0	207.0	206.0					16																	2256502		2118	4232	6350	SO:0001819	synonymous_variant	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2256502C>T		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.186C>T	16.37:g.2256502C>T						MLST8_uc002coy.2_Silent_p.Y62Y|MLST8_uc002cpa.2_5'UTR|MLST8_uc002cpb.2_Silent_p.Y61Y|MLST8_uc010uvx.1_5'UTR|MLST8_uc002cpc.2_Silent_p.Y62Y|MLST8_uc002cpd.2_5'UTR|MLST8_uc002cpe.2_Silent_p.Y62Y|MLST8_uc010uvy.1_Silent_p.Y62Y|MLST8_uc002cpg.2_Silent_p.Y81Y|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Silent_p.Y62Y	p.Y62Y	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN			4	305	+			62			WD 2.		B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Silent	SNP	ENST00000569417.1	37	c.186C>T	CCDS10462.2																																																																																				PASS	0.527	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		8	165	8	165	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20480859	20480860	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr16:20480859_20480860CC>AA	ENST00000573854.1	+	4	528_529	c.414_415CC>AA	c.(412-417)atCCag>atAAag	p.Q139K	ACSM2A_ENST00000396104.2_Missense_Mutation_p.Q139K|ACSM2A_ENST00000417235.2_Missense_Mutation_p.Q60K|ACSM2A_ENST00000575690.1_Missense_Mutation_p.Q139K|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.Q139K|ACSM2A_ENST00000219054.6_Missense_Mutation_p.Q139K	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	139					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.Q139K(2)|p.I138I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CTGGAACCATCCAGATGAAATC	0.426																																						uc010bwe.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	skin(2)|breast(1)	3						c.(412-414)ATC>ATA|c.(415-417)CAG>AAG		acyl-CoA synthetase medium-chain family member																																				SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20480859C>A|g.chr16:20480860C>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	Exception_encountered	16.37:g.20480859_20480860delinsAA	ENSP00000459451:p.Gln139Lys					ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Silent_p.I59I|ACSM2A_uc002dhf.3_Silent_p.I138I|ACSM2A_uc002dhg.3_Silent_p.I138I|ACSM2A_uc010vay.1_Silent_p.I59I|ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.Q60K|ACSM2A_uc002dhf.3_Missense_Mutation_p.Q139K|ACSM2A_uc002dhg.3_Missense_Mutation_p.Q139K|ACSM2A_uc010vay.1_Missense_Mutation_p.Q60K	p.I138I|p.Q139K	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			5	653|654	+			138|139				|Coenzyme A.	B3KTT9|O75202	Silent|Missense_Mutation	SNP	ENST00000573854.1	37	c.414C>A|c.415C>A	CCDS32401.1																																																																																				PASS	0.426	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		14	47	14	47	---	---	---	---
ACSM1	116285	broad.mit.edu	37	16	20673196	20673196	+	Splice_Site	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr16:20673196C>G	ENST00000307493.4	-	6	980		c.e6-1		ACSM1_ENST00000219151.4_Splice_Site|ACSM1_ENST00000520010.1_Splice_Site	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1						benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.?(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCAACAATGTCTGGAAAGGGA	0.393																																						uc002dhm.1																			1	Unknown(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.e6-1		acyl-CoA synthetase medium-chain family member							64.0	62.0	63.0					16																	20673196		2201	4300	6501	SO:0001630	splice_region_variant	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20673196C>G	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.913-1G>C	16.37:g.20673196C>G						ACSM1_uc002dhn.1_Splice_Site|ACSM1_uc010bwg.1_Splice_Site_p.T305_splice	p.T305_splice	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN			6	981	-								Q08AH2|Q96A20	Splice_Site	SNP	ENST00000307493.4	37	c.913_splice	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	.	12.47	1.948807	0.34377	.	.	ENSG00000166743	ENST00000307493;ENST00000524149;ENST00000520010	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5105	0.75776	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACSM1	20580697	0.900000	0.30661	0.135000	0.22099	0.070000	0.16714	3.402000	0.52608	2.584000	0.87258	0.603000	0.83216	.		PASS	0.393	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956	Intron	13	41	13	41	---	---	---	---
ERN2	10595	broad.mit.edu	37	16	23722242	23722242	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr16:23722242A>T	ENST00000457008.2	-	2	229	c.191T>A	c.(190-192)cTg>cAg	p.L64Q	ERN2_ENST00000256797.4_Missense_Mutation_p.L112Q|CTD-2385L22.1_ENST00000563611.1_RNA					endoplasmic reticulum to nucleus signaling 2									p.L112Q(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		ACCATCCCTCAGAGTCCACTT	0.542																																						uc002dma.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(2)|ovary(2)	6						c.(334-336)CTG>CAG		endoplasmic reticulum to nucleus signalling 2							137.0	121.0	126.0					16																	23722242		2197	4300	6497	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23722242A>T	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.191T>A	16.37:g.23722242A>T	ENSP00000413812:p.Leu64Gln					ERN2_uc010bxp.2_Missense_Mutation_p.L112Q|ERN2_uc010bxq.1_5'UTR	p.L112Q	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	2	504	-			64			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000457008.2	37	c.335T>A		.	.	.	.	.	.	.	.	.	.	A	16.46	3.128471	0.56721	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.59364	0.27;0.27	5.61	5.61	0.85477	.	0.231494	0.37136	N	0.002223	T	0.73202	0.3557	M	0.74881	2.28	0.54753	D	0.99998	D;D	0.89917	0.999;1.0	D;D	0.65233	0.909;0.933	T	0.75190	-0.3405	10	0.49607	T	0.09	.	13.7526	0.62917	1.0:0.0:0.0:0.0	.	64;64	E7ETG2;A5YM65	.;.	Q	112;64	ENSP00000256797:L112Q;ENSP00000413812:L64Q	ENSP00000256797:L112Q	L	-	2	0	ERN2	23629743	1.000000	0.71417	0.870000	0.34147	0.922000	0.55478	7.628000	0.83189	2.144000	0.66660	0.460000	0.39030	CTG		PASS	0.542	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			31	74	31	74	---	---	---	---
RSPRY1	89970	broad.mit.edu	37	16	57265166	57265166	+	Silent	SNP	T	T	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr16:57265166T>G	ENST00000537866.1	+	13	2337	c.1464T>G	c.(1462-1464)tcT>tcG	p.S488S	RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Silent_p.S488S			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	488						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)	p.S488S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						ACCCACCATCTATGAAATTTA	0.363																																						uc002elb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1462-1464)TCT>TCG		ring finger and SPRY domain containing 1							110.0	105.0	107.0					16																	57265166		2198	4300	6498	SO:0001819	synonymous_variant	89970					extracellular region	zinc ion binding	g.chr16:57265166T>G	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1464T>G	16.37:g.57265166T>G						RSPRY1_uc002elc.2_Silent_p.S488S|RSPRY1_uc002eld.2_Silent_p.S488S	p.S488S	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN			13	1742	+			488					Q6UX21|Q8ND53	Silent	SNP	ENST00000537866.1	37	c.1464T>G	CCDS10775.1																																																																																				PASS	0.363	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		24	60	24	60	---	---	---	---
CES4A	283848	broad.mit.edu	37	16	67037456	67037456	+	Splice_Site	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr16:67037456G>T	ENST00000326686.5	+	8	939	c.939G>T	c.(937-939)gaG>gaT	p.E313D	CES4A_ENST00000398354.1_Splice_Site_p.E313D|CES4A_ENST00000535696.1_Splice_Site_p.E219D|CES4A_ENST00000338718.4_Splice_Site_p.E336D|CES4A_ENST00000541479.1_Splice_Site_p.E336D|CES4A_ENST00000540947.2_Splice_Site_p.E313D|CES4A_ENST00000540579.1_Splice_Site_p.E215D			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	313						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.E313D(1)		large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						ACCCGGAAGAGGTAAACAGGC	0.478																																						uc002eqv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(937-939)GAG>GAT		carboxylesterase 8 (putative)							132.0	134.0	134.0					16																	67037456		1866	4094	5960	SO:0001630	splice_region_variant	283848					extracellular region	carboxylesterase activity	g.chr16:67037456G>T	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.939+1G>T	16.37:g.67037456G>T						CES8_uc010vix.1_Missense_Mutation_p.E313D|CES8_uc002eqw.2_Missense_Mutation_p.E313D|CES8_uc002eqy.2_Missense_Mutation_p.E215D|CES8_uc002eqx.2_Missense_Mutation_p.E119D|CES8_uc010viy.1_Missense_Mutation_p.E219D|CES8_uc010viz.1_Missense_Mutation_p.E215D|CES8_uc002eqz.2_5'Flank	p.E313D	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN			8	982	+			313					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37	c.939G>T		.	.	.	.	.	.	.	.	.	.	g	12.07	1.827866	0.32329	.	.	ENSG00000172824	ENST00000540947;ENST00000541479;ENST00000338718;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579;ENST00000535696	T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;3.17;0.36;3.17;0.36	4.3	-0.407	0.12385	Carboxylesterase, type B (1);	1.066950	0.07334	N	0.879759	T	0.35128	0.0921	N	0.25201	0.72	0.09310	N	0.999991	B;B;B;B	0.14438	0.001;0.004;0.01;0.007	B;B;B;B	0.19391	0.004;0.007;0.025;0.005	T	0.30387	-0.9980	10	0.54805	T	0.06	.	3.2583	0.06840	0.0964:0.3214:0.4172:0.165	.	219;336;313;336	Q5XG92-7;F8WEE9;Q5XG92;F5H5S4	.;.;EST4A_HUMAN;.	D	313;336;336;313;313;276;215;219	ENSP00000444052:E313D;ENSP00000443175:E336D;ENSP00000340714:E336D;ENSP00000381397:E313D;ENSP00000314145:E313D;ENSP00000441103:E276D;ENSP00000441907:E215D;ENSP00000441644:E219D	ENSP00000314145:E313D	E	+	3	2	CES4A	65594957	0.653000	0.27358	0.081000	0.20488	0.232000	0.25224	-0.417000	0.07088	-0.240000	0.09696	-0.513000	0.04457	GAG		PASS	0.478	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815	Missense_Mutation	43	105	43	105	---	---	---	---
TCF25	22980	broad.mit.edu	37	16	89964992	89964992	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr16:89964992G>C	ENST00000263346.8	+	10	1106	c.1050G>C	c.(1048-1050)caG>caC	p.Q350H	TCF25_ENST00000263347.7_Missense_Mutation_p.Q115H	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	350					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q350H(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TCTACAAGCAGATGAGCTTCC	0.577																																						uc002fpb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1048-1050)CAG>CAC		NULP1							85.0	98.0	94.0					16																	89964992		2198	4300	6498	SO:0001583	missense	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89964992G>C	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1050G>C	16.37:g.89964992G>C	ENSP00000263346:p.Gln350His					TCF25_uc002fpc.2_Missense_Mutation_p.Q115H	p.Q350H	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	10	1132	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	350					Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	c.1050G>C	CCDS10987.1	.	.	.	.	.	.	.	.	.	.	G	6.072	0.381602	0.11524	.	.	ENSG00000141002	ENST00000263346;ENST00000263347	T;T	0.73897	-0.79;-0.79	5.63	3.61	0.41365	Tetratricopeptide-like helical (1);	0.046101	0.85682	D	0.000000	T	0.29524	0.0736	N	0.00162	-1.95	0.37502	D	0.91679	B;B	0.12630	0.006;0.003	B;B	0.10450	0.005;0.005	T	0.48536	-0.9027	10	0.02654	T	1	.	7.9534	0.30027	0.0975:0.3413:0.5612:0.0	.	115;350	Q9H384;Q9BQ70	.;TCF25_HUMAN	H	350;115	ENSP00000263346:Q350H;ENSP00000263347:Q115H	ENSP00000263346:Q350H	Q	+	3	2	TCF25	88492493	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.319000	0.51983	1.371000	0.46172	0.561000	0.74099	CAG		PASS	0.577	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		32	103	32	103	---	---	---	---
RPA1	6117	broad.mit.edu	37	17	1783860	1783860	+	Silent	SNP	A	A	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr17:1783860A>G	ENST00000254719.5	+	12	1226	c.1116A>G	c.(1114-1116)agA>agG	p.R372R		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	372					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)	p.R372R(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ATGGTTCTAGACAGCCCGTGT	0.448								Nucleotide excision repair (NER)																														uc002fto.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1114-1116)AGA>AGG	NER	replication protein A1							87.0	85.0	86.0					17																	1783860		2203	4300	6503	SO:0001819	synonymous_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1783860A>G	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1116A>G	17.37:g.1783860A>G							p.R372R	NM_002945	NP_002936	P27694	RFA1_HUMAN			12	1231	+			372					A8K0Y9|Q59ES9	Silent	SNP	ENST00000254719.5	37	c.1116A>G	CCDS11014.1																																																																																				PASS	0.448	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		31	54	31	54	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578535	7578535	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr17:7578535T>C	ENST00000269305.4	-	5	584	c.395A>G	c.(394-396)aAg>aGg	p.K132R	TP53_ENST00000420246.2_Missense_Mutation_p.K132R|TP53_ENST00000413465.2_Missense_Mutation_p.K132R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.K132R|TP53_ENST00000445888.2_Missense_Mutation_p.K132R|TP53_ENST00000455263.2_Missense_Mutation_p.K132R	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	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K132R(42)|p.K132M(10)|p.0?(8)|p.K132T(7)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K39R(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132W(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.K39T(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)	GCAAAACATCTTGTTGAGGGC	0.562		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		90	Substitution - Missense(64)|Deletion - In frame(13)|Whole gene deletion(8)|Deletion - Frameshift(5)	p.K132N(40)|p.K132R(32)|p.K132E(19)|p.K132Q(13)|p.K132M(9)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.K132T(4)|p.N131del(2)|p.N131fs*27(2)|p.K132*(2)|p.K132fs*38(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.K132W(1)	lung(15)|ovary(12)|large_intestine(11)|central_nervous_system(8)|oesophagus(7)|breast(5)|bone(5)|upper_aerodigestive_tract(4)|biliary_tract(4)|urinary_tract(4)|haematopoietic_and_lymphoid_tissue(3)|adrenal_gland(2)|kidney(2)|prostate(2)|liver(2)|stomach(1)|endometrium(1)|skin(1)|pancreas(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.(394-396)AAG>AGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							46.0	47.0	47.0					17																	7578535		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578535T>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.395A>G	17.37:g.7578535T>C	ENSP00000269305:p.Lys132Arg	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_Missense_Mutation_p.K132R|TP53_uc002gih.2_Missense_Mutation_p.K132R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.K132R|TP53_uc010cni.1_Missense_Mutation_p.K132R|TP53_uc002gij.2_Missense_Mutation_p.K132R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K39R|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.K93R	p.K132R	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	589	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	132		K -> T (in sporadic cancers; somatic mutation).|KM -> NL (in a sporadic cancer; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> R (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> Q (in sporadic cancers; somatic mutation).|K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.395A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072716	0.76415	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99849	-7.15;-7.15;-7.15;-7.15;-7.15;-7.15;-7.15;-7.15	5.48	4.41	0.53225	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	M	0.84326	2.69	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D	0.97110	0.992;0.991;0.985;0.989;0.995;0.988;1.0	D	0.97766	1.0223	10	0.87932	D	0	-14.0777	9.8103	0.40820	0.0:0.082:0.0:0.918	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132R;ENSP00000352610:K132R;ENSP00000269305:K132R;ENSP00000398846:K132R;ENSP00000391127:K132R;ENSP00000391478:K132R;ENSP00000423862:K39R;ENSP00000424104:K132R	ENSP00000269305:K132R	K	-	2	0	TP53	7519260	1.000000	0.71417	0.999000	0.59377	0.772000	0.43724	7.993000	0.88291	1.020000	0.39573	-0.256000	0.11100	AAG		PASS	0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	28	16	28	---	---	---	---
TOP3A	7156	broad.mit.edu	37	17	18196039	18196039	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr17:18196039C>A	ENST00000321105.5	-	11	1415	c.1201G>T	c.(1201-1203)Ggt>Tgt	p.G401C	TOP3A_ENST00000540524.1_Intron|TOP3A_ENST00000542570.1_Missense_Mutation_p.G306C	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	401					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)	p.G401C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GGGGTGGGACCACCCCGCTCT	0.542																																						uc002gsx.1																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(1201-1203)GGT>TGT		topoisomerase (DNA) III alpha							136.0	122.0	127.0					17																	18196039		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18196039C>A	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1201G>T	17.37:g.18196039C>A	ENSP00000321636:p.Gly401Cys					TOP3A_uc010cpz.1_5'Flank|TOP3A_uc010vxr.1_Intron|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Missense_Mutation_p.G299C	p.G401C	NM_004618	NP_004609	Q13472	TOP3A_HUMAN			11	1430	-			401					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.1201G>T	CCDS11194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.80|15.80	2.939885|2.939885	0.52972|0.52972	.|.	.|.	ENSG00000177302|ENSG00000177302	ENST00000321105;ENST00000542570|ENST00000412083	T;T|.	0.22336|.	1.96;1.96|.	5.22|5.22	5.22|5.22	0.72569|0.72569	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);|.	0.048484|.	0.85682|.	D|.	0.000000|.	D|D	0.86522|0.86522	0.5953|0.5953	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.89739|0.89739	0.3932|0.3932	10|5	0.38643|.	T|.	0.18|.	-13.834|-13.834	18.7739|18.7739	0.91902|0.91902	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	306;401|.	B4DK80;Q13472|.	.;TOP3A_HUMAN|.	C|L	401;306|380	ENSP00000321636:G401C;ENSP00000442336:G306C|.	ENSP00000321636:G401C|.	G|W	-|-	1|2	0|0	TOP3A|TOP3A	18136764|18136764	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.985000|0.985000	0.73830|0.73830	7.705000|7.705000	0.84606|0.84606	2.431000|2.431000	0.82371|0.82371	0.563000|0.563000	0.77884|0.77884	GGT|TGG		PASS	0.542	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			23	62	23	62	---	---	---	---
KRTAP4-5	85289	broad.mit.edu	37	17	39305619	39305619	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr17:39305619G>T	ENST00000343246.4	-	1	435	c.401C>A	c.(400-402)tCt>tAt	p.S134Y		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	134	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S134Y(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ttcacagcaagaggggtggca	0.637																																						uc002hwb.2																			2	Substitution - Missense(2)		lung(1)|central_nervous_system(1)		0						c.(400-402)TCT>TAT		keratin associated protein 4-5							22.0	21.0	22.0					17																	39305619		2194	4283	6477	SO:0001583	missense	85289					keratin filament		g.chr17:39305619G>T	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.401C>A	17.37:g.39305619G>T	ENSP00000340546:p.Ser134Tyr						p.S134Y	NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	436	-		Breast(137;0.000496)	139			24.|27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].			Missense_Mutation	SNP	ENST00000343246.4	37	c.401C>A	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	7.535	0.659572	0.14645	.	.	ENSG00000198271	ENST00000343246	T	0.01446	4.88	3.31	-2.73	0.05950	.	0.818375	0.09819	U	0.751710	T	0.08626	0.0214	M	0.94021	3.485	0.09310	N	1	P	0.48998	0.918	P	0.49853	0.624	T	0.17531	-1.0366	10	0.52906	T	0.07	.	14.3902	0.66973	0.0:0.5611:0.4389:0.0	.	139	Q9BYR2	KRA45_HUMAN	Y	134	ENSP00000340546:S134Y	ENSP00000340546:S134Y	S	-	2	0	KRTAP4-5	36559145	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.079000	0.03410	-0.156000	0.11079	0.563000	0.77884	TCT		PASS	0.637	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			3	22	3	22	---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54450027	54450027	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr17:54450027G>A	ENST00000318698.2	+	6	666	c.631G>A	c.(631-633)Gca>Aca	p.A211T	ANKFN1_ENST00000566473.2_Missense_Mutation_p.A211T	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	211								p.A211T(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GGAAAGCCGAGCAATGCACCT	0.478																																						uc002iun.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(631-633)GCA>ACA		ankyrin-repeat and fibronectin type III domain							115.0	112.0	113.0					17																	54450027		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54450027G>A	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.631G>A	17.37:g.54450027G>A	ENSP00000321627:p.Ala211Thr						p.A211T	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			6	666	+			211			Potential.			Missense_Mutation	SNP	ENST00000318698.2	37	c.631G>A	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165831	0.38217	.	.	ENSG00000153930	ENST00000318698	T	0.24723	1.84	5.64	3.52	0.40303	.	0.461313	0.25299	N	0.031664	T	0.21674	0.0522	L	0.40543	1.245	0.29589	N	0.848588	B	0.14438	0.01	B	0.09377	0.004	T	0.13899	-1.0492	10	0.54805	T	0.06	-8.5168	12.1173	0.53872	0.0:0.0:0.4171:0.5829	.	211	Q8N957	ANKF1_HUMAN	T	211	ENSP00000321627:A211T	ENSP00000321627:A211T	A	+	1	0	ANKFN1	51805026	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	2.689000	0.46993	1.367000	0.46095	0.462000	0.41574	GCA		PASS	0.478	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		8	181	8	181	---	---	---	---
HGS	9146	broad.mit.edu	37	17	79668078	79668078	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr17:79668078C>T	ENST00000329138.4	+	21	2275	c.2140C>T	c.(2140-2142)Ctc>Ttc	p.L714F	SLC25A10_ENST00000571730.1_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA|MRPL12_ENST00000333676.3_5'Flank|SLC25A10_ENST00000541223.1_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	714	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.L714F(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			ACAACAGAATCTCATGACCAC	0.597																																						uc002kbg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2140-2142)CTC>TTC		hepatocyte growth factor-regulated tyrosine							142.0	100.0	114.0					17																	79668078		2203	4300	6503	SO:0001583	missense	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79668078C>T	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.2140C>T	17.37:g.79668078C>T	ENSP00000331201:p.Leu714Phe					MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank	p.L714F	NM_004712	NP_004703	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		21	2217	+	all_neural(118;0.0878)|all_lung(278;0.23)		714			Interaction with NF2.|Gln-rich.		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	c.2140C>T	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428508	0.62844	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.39056	1.1	4.95	3.98	0.46160	.	0.719556	0.12620	N	0.453106	T	0.25754	0.0627	N	0.24115	0.695	0.39565	D	0.969191	B	0.14805	0.011	B	0.15870	0.014	T	0.05550	-1.0878	10	0.09843	T	0.71	-49.1633	8.4428	0.32824	0.0:0.7564:0.157:0.0866	.	714	O14964	HGS_HUMAN	F	714;628	ENSP00000331201:L714F	ENSP00000331201:L714F	L	+	1	0	HGS	77278483	1.000000	0.71417	0.991000	0.47740	0.764000	0.43329	5.014000	0.64029	1.308000	0.44962	0.561000	0.74099	CTC		PASS	0.597	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		5	76	5	76	---	---	---	---
DLGAP1	9229	broad.mit.edu	37	18	3879542	3879542	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr18:3879542G>A	ENST00000315677.3	-	4	1122	c.527C>T	c.(526-528)gCg>gTg	p.A176V	DLGAP1_ENST00000584874.1_Missense_Mutation_p.A176V|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A176V|DLGAP1_ENST00000581527.1_Missense_Mutation_p.A176V|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	176					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.A176V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCCATAGCGCGCCGCCTGCGC	0.697																																						uc002kmf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(526-528)GCG>GTG		discs large homolog-associated protein 1 isoform							49.0	59.0	56.0					18																	3879542		2201	4297	6498	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879542G>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.527C>T	18.37:g.3879542G>A	ENSP00000316377:p.Ala176Val					DLGAP1_uc010wyz.1_Missense_Mutation_p.A176V|DLGAP1_uc002kmk.2_Missense_Mutation_p.A176V|uc002kml.1_Intron	p.A176V	NM_004746	NP_004737	O14490	DLGP1_HUMAN			1	594	-		Colorectal(8;0.0257)	176					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.527C>T	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	6.939	0.543009	0.13250	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.17213	2.29;2.29	5.75	0.336	0.15958	.	1.102370	0.06724	N	0.775455	T	0.11281	0.0275	N	0.25647	0.755	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.38950	-0.9637	10	0.22706	T	0.39	-1.5096	6.3229	0.21227	0.618:0.2494:0.1326:0.0	.	176;176;176	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	V	176	ENSP00000316377:A176V;ENSP00000445973:A176V	ENSP00000316377:A176V	A	-	2	0	DLGAP1	3869542	0.004000	0.15560	0.022000	0.16811	0.486000	0.33341	1.200000	0.32247	0.088000	0.17205	-0.290000	0.09829	GCG		PASS	0.697	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			39	153	39	153	---	---	---	---
SS18	6760	broad.mit.edu	37	18	23612395	23612396	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr18:23612395_23612396GC>AA	ENST00000415083.2	-	10	1252_1253	c.1197_1198GC>TT	c.(1195-1200)caGCca>caTTca	p.399_400QP>HS	SS18_ENST00000269137.7_Missense_Mutation_p.368_369QP>HS|SS18_ENST00000545952.1_Missense_Mutation_p.316_317QP>HS|SS18_ENST00000539849.1_Missense_Mutation_p.317_318QP>HS|SS18_ENST00000542743.1_Missense_Mutation_p.316_317QP>HS|SS18_ENST00000542420.2_Missense_Mutation_p.376_377QP>HS	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	399	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.P400S(1)|p.Q399H(1)|p.Q399_P400>HS(1)	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TGCTGGGGTGGCTGTGGTGGTC	0.5			T	"""SSX1,  SSX2"""	synovial sarcoma																																	uc002kvm.2				Dom	yes		18	18q11.2	6760	T	"""synovial sarcoma translocation, chromosome 18"""			M	SSX1| SSX2		synovial sarcoma	SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	soft_tissue(1883)|ovary(1)	1884						c.(1198-1200)CCA>TCA|c.(1195-1197)CAG>CAT		synovial sarcoma translocation, chromosome 18																																				SO:0001583	missense	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23612395G>A|g.chr18:23612396C>A	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.1197_1198delinsAA	18.37:g.23612395_23612396delinsAA	ENSP00000414516:p.Q399_P400delinsHS					SS18_uc002kvn.2_Missense_Mutation_p.P369S|SS18_uc010xbf.1_Missense_Mutation_p.P318S|SS18_uc010xbg.1_Missense_Mutation_p.P317S|SS18_uc010xbh.1_Missense_Mutation_p.P317S|SS18_uc010xbi.1_Missense_Mutation_p.P377S|SS18_uc002kvn.2_Missense_Mutation_p.Q368H|SS18_uc010xbf.1_Missense_Mutation_p.Q317H|SS18_uc010xbg.1_Missense_Mutation_p.Q316H|SS18_uc010xbh.1_Missense_Mutation_p.Q316H|SS18_uc010xbi.1_Missense_Mutation_p.Q376H	p.P400S|p.Q399H	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN			10	1276|1275	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		400|399			Gln-rich.|SH3-binding (Potential).		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	c.1198C>T|c.1197G>T	CCDS32807.1																																																																																				PASS	0.500	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			23	270|274	23	270	---	---	---	---
DTNA	1837	broad.mit.edu	37	18	32418101	32418101	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr18:32418101G>C	ENST00000399113.3	+	11	1138	c.1138G>C	c.(1138-1140)Gct>Cct	p.A380P	DTNA_ENST00000596745.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000269190.7_Missense_Mutation_p.A381P|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000269191.6_Missense_Mutation_p.A380P|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000399097.3_Missense_Mutation_p.A59P|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000444659.1_Missense_Mutation_p.A380P|DTNA_ENST00000269192.7_Missense_Mutation_p.A89P|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000348997.5_Missense_Mutation_p.A377P|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000591182.1_Missense_Mutation_p.A59P			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	380					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.A59P(1)|p.A381P(1)|p.A380P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CAAACTGCTGGCTAGGGCTGC	0.443																																						uc010dmn.1																			3	Substitution - Missense(3)		lung(3)		0						c.(1138-1140)GCT>CCT		dystrobrevin alpha isoform 1							91.0	78.0	83.0					18																	32418101		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32418101G>C	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1138G>C	18.37:g.32418101G>C	ENSP00000382064:p.Ala380Pro					DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Intron|DTNA_uc002kxw.2_Intron|DTNA_uc010dmj.2_Intron|DTNA_uc002kxz.2_Intron|DTNA_uc002kxy.2_Intron|DTNA_uc010dml.2_Intron|DTNA_uc002kyb.3_Missense_Mutation_p.A377P|DTNA_uc010dmm.2_Missense_Mutation_p.A380P|DTNA_uc010xby.1_Intron|DTNA_uc010dmo.2_Intron|DTNA_uc002kyd.3_Intron|DTNA_uc010xbz.1_Missense_Mutation_p.A89P|DTNA_uc010xca.1_Intron|DTNA_uc002kye.2_Missense_Mutation_p.A59P	p.A380P	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			11	1139	+			380					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1138G>C	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446876	0.43429	.	.	ENSG00000134769	ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377	T;T;T;T;T	0.19394	2.16;2.15;2.16;2.18;2.16	5.88	5.88	0.94601	.	0.111853	0.64402	D	0.000007	T	0.30386	0.0763	L	0.36672	1.1	0.46499	D	0.999076	P;B;P;D;P	0.58268	0.713;0.072;0.718;0.982;0.718	B;B;B;P;B	0.53549	0.444;0.029;0.349;0.729;0.349	T	0.00266	-1.1864	10	0.33940	T	0.23	-10.9423	18.3992	0.90510	0.0:0.0:1.0:0.0	.	89;380;380;59;377	B4DIR0;Q9Y4J8;Q9Y4J8-3;Q9Y4J8-6;Q9Y4J8-4	.;DTNA_HUMAN;.;.;.	P	381;59;377;380;380;380;380;89;59	ENSP00000269190:A381P;ENSP00000336682:A377P;ENSP00000405819:A380P;ENSP00000269191:A380P;ENSP00000382064:A380P	ENSP00000269190:A381P	A	+	1	0	DTNA	30672099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.469000	0.60169	2.780000	0.95670	0.655000	0.94253	GCT		PASS	0.443	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		51	49	51	49	---	---	---	---
DTNA	1837	broad.mit.edu	37	18	32418763	32418763	+	Silent	SNP	C	C	A	rs368913791		TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr18:32418763C>A	ENST00000399113.3	+	12	1227	c.1227C>A	c.(1225-1227)atC>atA	p.I409I	DTNA_ENST00000596745.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000269190.7_Silent_p.I410I|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000269191.6_Silent_p.I409I|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000444659.1_Silent_p.I409I|DTNA_ENST00000269192.7_Silent_p.I118I|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000348997.5_Silent_p.I406I|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000591182.1_Intron			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	409	Syntrophin-binding region.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.I409I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ATGTTCTCATCGGGTTGTATG	0.502																																						uc010dmn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1225-1227)ATC>ATA		dystrobrevin alpha isoform 1							180.0	136.0	151.0					18																	32418763		2203	4300	6503	SO:0001819	synonymous_variant	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32418763C>A	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1227C>A	18.37:g.32418763C>A						DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Intron|DTNA_uc002kxw.2_Intron|DTNA_uc010dmj.2_Intron|DTNA_uc002kxz.2_Intron|DTNA_uc002kxy.2_Intron|DTNA_uc010dml.2_Intron|DTNA_uc002kyb.3_Silent_p.I406I|DTNA_uc010dmm.2_Silent_p.I409I|DTNA_uc010xby.1_Intron|DTNA_uc010dmo.2_Intron|DTNA_uc002kyd.3_Intron|DTNA_uc010xbz.1_Silent_p.I118I|DTNA_uc010xca.1_Intron|DTNA_uc002kye.2_Intron	p.I409I	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			12	1228	+			409			Syntrophin-binding region.		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Silent	SNP	ENST00000399113.3	37	c.1227C>A	CCDS59311.1																																																																																				PASS	0.502	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		5	165	5	165	---	---	---	---
PIK3C3	5289	broad.mit.edu	37	18	39607454	39607454	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr18:39607454C>T	ENST00000262039.4	+	14	1618	c.1532C>T	c.(1531-1533)cCa>cTa	p.P511L	PIK3C3_ENST00000593098.1_5'UTR|PIK3C3_ENST00000398870.3_Missense_Mutation_p.P448L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	511	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.P511L(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CAGAGAGATCCAAAGACCCAT	0.398										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	uc002lap.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(1)|breast(1)	10						c.(1531-1533)CCA>CTA		catalytic phosphatidylinositol 3-kinase 3							129.0	108.0	115.0					18																	39607454		2203	4300	6503	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39607454C>T	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1532C>T	18.37:g.39607454C>T	ENSP00000262039:p.Pro511Leu	TSP Lung(28;0.18)				PIK3C3_uc010xcl.1_Missense_Mutation_p.P448L|PIK3C3_uc002laq.2_5'UTR	p.P511L	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN			14	1590	+			511					Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.1532C>T	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150798	0.57151	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.61627	0.09;0.09	5.73	5.73	0.89815	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.113831	0.64402	D	0.000009	T	0.48750	0.1517	L	0.33293	1	0.80722	D	1	B;B	0.16802	0.019;0.002	B;B	0.16722	0.016;0.016	T	0.35624	-0.9781	9	.	.	.	.	18.1556	0.89689	0.0:1.0:0.0:0.0	.	448;511	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	L	511;448	ENSP00000262039:P511L;ENSP00000381845:P448L	.	P	+	2	0	PIK3C3	37861452	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.714000	0.84703	2.724000	0.93272	0.586000	0.80456	CCA		PASS	0.398	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		3	38	3	38	---	---	---	---
RAX	30062	broad.mit.edu	37	18	56939713	56939713	+	Silent	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr18:56939713C>A	ENST00000334889.3	-	2	609	c.423G>T	c.(421-423)acG>acT	p.T141T	RAX_ENST00000256852.7_Intron	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	141					camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.T141T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		TGGTGAAAGTCGTGCGGTTCC	0.652																																					GBM(150;770 1898 17679 24325 37807)	uc002lhx.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(421-423)ACG>ACT		retina and anterior neural fold homeobox							116.0	116.0	116.0					18																	56939713		2203	4300	6503	SO:0001819	synonymous_variant	30062				visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr18:56939713C>A	AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"""Homeoboxes / PRD class"""	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.423G>T	18.37:g.56939713C>A						RAX_uc010dpp.2_Intron	p.T141T	NM_013435	NP_038463	Q9Y2V3	RX_HUMAN		STAD - Stomach adenocarcinoma(84;0.18)	2	610	-		Lung NSC(161;0.0804)|Colorectal(73;0.0946)	141			Homeobox.		Q86V11	Silent	SNP	ENST00000334889.3	37	c.423G>T	CCDS11972.1																																																																																				PASS	0.652	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256128.2			22	67	22	67	---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65178337	65178337	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr18:65178337T>C	ENST00000310045.7	-	2	5012	c.3539A>G	c.(3538-3540)tAt>tGt	p.Y1180C	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	1170					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.Y1180C(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)				TTCCCCTTCATAGGGAAGGTA	0.358																																						uc002lke.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(3538-3540)TAT>TGT		dermatan sulfate epimerase-like							86.0	85.0	85.0					18																	65178337		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178337T>C	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.3539A>G	18.37:g.65178337T>C	ENSP00000310565:p.Tyr1180Cys						p.Y1180C	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	4763	-		Esophageal squamous(42;0.129)	1170					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.3539A>G	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.595262	0.66219	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	D	0.82803	-1.65	4.7	4.7	0.59300	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000004	D	0.88403	0.6427	M	0.63843	1.955	0.47094	D	0.999316	D	0.67145	0.996	P	0.62649	0.905	D	0.89831	0.3996	10	0.87932	D	0	-15.1276	14.4509	0.67385	0.0:0.0:0.0:1.0	.	1170	Q8IZU8	DSEL_HUMAN	C	1180;1170	ENSP00000310565:Y1180C	ENSP00000310565:Y1180C	Y	-	2	0	DSEL	63329317	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.144000	0.71762	1.872000	0.54250	0.460000	0.39030	TAT		PASS	0.358	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		9	40	9	40	---	---	---	---
UHRF1	29128	broad.mit.edu	37	19	4932887	4932887	+	RNA	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:4932887G>A	ENST00000592666.1	+	0	1280				MIR4747_ENST00000584057.1_RNA			Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R248Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CCCAAGGAGCGGGGCTTCTGG	0.667																																						uc002mbo.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(703-705)CGG>CAG		ubiquitin-like with PHD and ring finger domains							40.0	49.0	46.0					19																	4932887		2035	4183	6218			29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4932887G>A	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4932887G>A						UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.R248Q	p.R235Q	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	5	872	+			235					A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Missense_Mutation	SNP	ENST00000592666.1	37	c.704G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.716884	0.96830	.	.	ENSG00000034063	ENST00000262952;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.89	4.89	0.63831	Domain of unknown function DUF3590 (1);	0.000000	0.85682	D	0.000000	D	0.82976	0.5154	M	0.80422	2.495	0.44946	D	0.997963	D;D	0.89917	0.999;1.0	D;D	0.97110	0.994;1.0	D	0.85632	0.1271	8	0.66056	D	0.02	-25.7014	18.0594	0.89372	0.0:0.0:1.0:0.0	.	248;235	Q2HIX7;Q96T88	.;UHRF1_HUMAN	Q	235;235;235;248	.	ENSP00000262952:R235Q	R	+	2	0	UHRF1	4883887	1.000000	0.71417	0.798000	0.32154	0.994000	0.84299	9.647000	0.98478	2.262000	0.75019	0.561000	0.74099	CGG		PASS	0.667	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		11	43	11	43	---	---	---	---
TNFSF14	8740	broad.mit.edu	37	19	6669937	6669937	+	Silent	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:6669937C>A	ENST00000599359.1	-	2	525	c.144G>T	c.(142-144)ggG>ggT	p.G48G	TNFSF14_ENST00000245912.3_Intron|TNFSF14_ENST00000326176.9_Intron			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	48					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)	p.G48G(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CCAGCCCGGCCCCCATCAGCA	0.662																																						uc002mfk.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(142-144)GGG>GGT		tumor necrosis factor ligand superfamily, member							94.0	88.0	90.0					19																	6669937		2203	4300	6503	SO:0001819	synonymous_variant	8740				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6669937C>A	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.144G>T	19.37:g.6669937C>A						TNFSF14_uc002mfj.1_Intron	p.G48G	NM_003807	NP_003798	O43557	TNF14_HUMAN			2	526	-			48			Helical; Signal-anchor for type II membrane protein; (Potential).		A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Silent	SNP	ENST00000599359.1	37	c.144G>T	CCDS12171.1																																																																																				PASS	0.662	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			4	104	4	104	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9056708	9056708	+	Silent	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:9056708G>A	ENST00000397910.4	-	3	30941	c.30738C>T	c.(30736-30738)ttC>ttT	p.F10246F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10248	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.F10246F(1)|p.F5879F(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						TGGATTCTGGGAAGGAGGTTA	0.458																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(30736-30738)TTC>TTT		mucin 16							71.0	70.0	71.0					19																	9056708		1917	4123	6040	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056708G>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.30738C>T	19.37:g.9056708G>A							p.F10246F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	30942	-			10248			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.30738C>T	CCDS54212.1																																																																																				PASS	0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	54	16	54	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9060853	9060853	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:9060853G>T	ENST00000397910.4	-	3	26796	c.26593C>A	c.(26593-26595)Cct>Act	p.P8865T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8867	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.P8865T(2)|p.P4498T(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						AGTGGCGAAGGTGAGGTTACT	0.502																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(26593-26595)CCT>ACT		mucin 16							121.0	121.0	121.0					19																	9060853		2009	4172	6181	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9060853G>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.26593C>A	19.37:g.9060853G>T	ENSP00000381008:p.Pro8865Thr						p.P8865T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	26797	-			8867			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.26593C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	-	0.394	-0.921823	0.02396	.	.	ENSG00000181143	ENST00000397910	T	0.23552	1.9	1.82	-3.63	0.04529	.	.	.	.	.	T	0.15522	0.0374	L	0.29908	0.895	.	.	.	B	0.13145	0.007	B	0.08055	0.003	T	0.10154	-1.0642	8	0.87932	D	0	.	5.9481	0.19229	0.0:0.1527:0.2084:0.6389	.	8865	B5ME49	.	T	8865	ENSP00000381008:P8865T	ENSP00000381008:P8865T	P	-	1	0	MUC16	8921853	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.062000	0.03468	-2.296000	0.00662	-0.887000	0.02937	CCT		PASS	0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	121	9	121	---	---	---	---
CCDC151	115948	broad.mit.edu	37	19	11537596	11537596	+	Silent	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:11537596C>T	ENST00000356392.4	-	5	708	c.621G>A	c.(619-621)cgG>cgA	p.R207R	CCDC151_ENST00000545100.1_Silent_p.R153R|CCDC151_ENST00000591179.1_Intron|CCDC151_ENST00000586836.1_Silent_p.R16R	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	207								p.R207R(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TCTCCAGGTTCCGCATGGTCT	0.637																																						uc002mrs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(619-621)CGG>CGA		coiled-coil domain containing 151							47.0	53.0	51.0					19																	11537596		2036	4186	6222	SO:0001819	synonymous_variant	115948							g.chr19:11537596C>T		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.621G>A	19.37:g.11537596C>T						CCDC151_uc002mrr.2_Silent_p.R142R|CCDC151_uc010dxz.2_Intron	p.R207R	NM_145045	NP_659482	A5D8V7	CC151_HUMAN			5	764	-			207			Potential.		B4DXT0|Q96CG5	Silent	SNP	ENST00000356392.4	37	c.621G>A	CCDS42501.1																																																																																				PASS	0.637	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		6	33	6	33	---	---	---	---
ZNF44	51710	broad.mit.edu	37	19	12383611	12383611	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:12383611A>T	ENST00000356109.5	-	5	1721	c.1603T>A	c.(1603-1605)Tct>Act	p.S535T	ZNF44_ENST00000355684.5_Missense_Mutation_p.S487T	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	535					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.S487T(1)		ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TATTTAAAAGAACTAAATGCT	0.353																																						uc010xmj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1603-1605)TCT>ACT		zinc finger protein 44 isoform 1							84.0	88.0	86.0					19																	12383611		2022	4204	6226	SO:0001583	missense	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12383611A>T	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.1603T>A	19.37:g.12383611A>T	ENSP00000348419:p.Ser535Thr					ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.S487T	p.S535T	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	1808	-		Renal(1328;0.157)	535			C2H2-type 13.		B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	c.1603T>A	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	A	9.050	0.991736	0.18966	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.15603	2.41;2.41;2.41	0.997	0.997	0.19851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08758	0.0217	N	0.05467	-0.045	.	.	.	P;B	0.36086	0.536;0.306	B;B	0.42738	0.396;0.131	T	0.28586	-1.0039	8	0.22706	T	0.39	.	2.8493	0.05552	0.7137:0.0:0.2863:0.0	.	535;487	P15621;F8W7T7	ZNF44_HUMAN;.	T	535;535;487;487	ENSP00000377008:S535T;ENSP00000348419:S535T;ENSP00000347910:S487T	ENSP00000347910:S487T	S	-	1	0	ZNF44	12244611	0.000000	0.05858	0.001000	0.08648	0.818000	0.46254	0.140000	0.16056	0.718000	0.32166	0.254000	0.18369	TCT		PASS	0.353	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		6	83	6	83	---	---	---	---
C19orf57	79173	broad.mit.edu	37	19	14003963	14003963	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:14003963G>C	ENST00000586783.1	-	3	279	c.280C>G	c.(280-282)Cct>Gct	p.P94A	C19orf57_ENST00000591586.1_Missense_Mutation_p.P94A|C19orf57_ENST00000346736.2_Missense_Mutation_p.P94A|C19orf57_ENST00000454313.1_Missense_Mutation_p.P94A			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	94					multicellular organismal development (GO:0007275)			p.P94A(1)		breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ACCTGGGAAGGAGGAAGGGGA	0.537																																						uc002mxl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(280-282)CCT>GCT		hypothetical protein LOC79173							45.0	43.0	44.0					19																	14003963		2202	4298	6500	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14003963G>C	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.280C>G	19.37:g.14003963G>C	ENSP00000465822:p.Pro94Ala					C19orf57_uc002mxk.1_5'Flank|C19orf57_uc002mxm.1_Missense_Mutation_p.P94A	p.P94A	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		4	339	-			94					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.280C>G		.	.	.	.	.	.	.	.	.	.	G	9.923	1.212765	0.22289	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.34072	1.38;1.38	3.99	3.99	0.46301	.	0.892445	0.09286	N	0.823116	T	0.43919	0.1269	L	0.29908	0.895	0.21064	N	0.999797	D	0.64830	0.994	P	0.60886	0.88	T	0.28106	-1.0054	10	0.32370	T	0.25	0.6011	11.7721	0.51965	0.0:0.0:1.0:0.0	.	94	Q0VDD7-2	.	A	94	ENSP00000404382:P94A;ENSP00000254336:P94A	ENSP00000254336:P94A	P	-	1	0	C19orf57	13864963	0.007000	0.16637	0.710000	0.30468	0.204000	0.24138	0.932000	0.28884	2.214000	0.71695	0.561000	0.74099	CCT		PASS	0.537	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		17	12	17	12	---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15271654	15271654	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:15271654G>C	ENST00000263388.2	-	33	6860	c.6785C>G	c.(6784-6786)tCc>tGc	p.S2262C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2262					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.S2262C(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GTCTGAGAGGGAGGGAGGTGA	0.672																																						uc002nan.2																			2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(6784-6786)TCC>TGC		Notch homolog 3 precursor							32.0	35.0	34.0					19																	15271654		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15271654G>C	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6785C>G	19.37:g.15271654G>C	ENSP00000263388:p.Ser2262Cys						p.S2262C	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		33	6861	-			2262			Cytoplasmic (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.6785C>G	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.500117	0.26861	.	.	ENSG00000074181	ENST00000263388	D	0.82526	-1.62	3.13	3.13	0.36017	Domain of unknown function DUF3454, notch (1);	.	.	.	.	T	0.77665	0.4164	L	0.46670	1.46	0.41628	D	0.989001	B	0.18610	0.029	B	0.19666	0.026	T	0.75121	-0.3429	9	0.36615	T	0.2	.	13.5127	0.61522	0.0:0.0:1.0:0.0	.	2262	Q9UM47	NOTC3_HUMAN	C	2262	ENSP00000263388:S2262C	ENSP00000263388:S2262C	S	-	2	0	NOTCH3	15132654	0.757000	0.28394	0.656000	0.29637	0.797000	0.45037	2.548000	0.45794	1.769000	0.52152	0.467000	0.42956	TCC		PASS	0.672	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		12	77	12	77	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16860592	16860592	+	Nonsense_Mutation	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:16860592C>G	ENST00000552788.1	+	4	1139	c.1139C>G	c.(1138-1140)tCa>tGa	p.S380*	NWD1_ENST00000524140.2_Nonsense_Mutation_p.S380*|NWD1_ENST00000549814.1_Nonsense_Mutation_p.S380*|NWD1_ENST00000523826.1_Nonsense_Mutation_p.S174*|NWD1_ENST00000339803.6_Nonsense_Mutation_p.S245*|NWD1_ENST00000379808.3_Nonsense_Mutation_p.S380*			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	380	NACHT.						ATP binding (GO:0005524)	p.S245*(2)|p.S380*(2)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAATGAGCTCAGATGCCCGT	0.632																																						uc002neu.3																			4	Substitution - Nonsense(4)		lung(4)	skin(3)|ovary(2)|pancreas(2)	7						c.(1138-1140)TCA>TGA		RecName: Full=NACHT and WD repeat domain-containing protein 1;							31.0	33.0	32.0					19																	16860592		2203	4300	6503	SO:0001587	stop_gained	284434						ATP binding	g.chr19:16860592C>G	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1139C>G	19.37:g.16860592C>G	ENSP00000447224:p.Ser380*					NWD1_uc002net.3_Nonsense_Mutation_p.S245*|NWD1_uc002nev.3_Nonsense_Mutation_p.S174*	p.S380*			Q149M9	NWD1_HUMAN			6	1561	+			380			NACHT.		C9J021|Q68CT3	Nonsense_Mutation	SNP	ENST00000552788.1	37	c.1139C>G		.	.	.	.	.	.	.	.	.	.	c	14.27	2.483965	0.44147	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	.	.	.	4.42	-0.823	0.10815	.	0.650271	0.15851	N	0.241526	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	0.0	4.1403	0.10189	0.1459:0.4399:0.3255:0.0888	.	.	.	.	X	245;380;380;380;174;380;245	.	ENSP00000340159:S245X	S	+	2	0	NWD1	16721592	0.016000	0.18221	0.000000	0.03702	0.008000	0.06430	1.894000	0.39768	-0.221000	0.09973	-0.201000	0.12746	TCA		PASS	0.632	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		3	35	3	35	---	---	---	---
ZNF714	148206	broad.mit.edu	37	19	21299983	21299983	+	Silent	SNP	T	T	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:21299983T>G	ENST00000596143.1	+	5	838	c.513T>G	c.(511-513)tcT>tcG	p.S171S	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	171					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.S276S(1)|p.S171S(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GAGAGAATTCTTACCAATGTG	0.338																																						uc002npo.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(514-516)TCT>TCG		zinc finger protein 714							58.0	65.0	63.0					19																	21299983		2177	4275	6452	SO:0001819	synonymous_variant	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21299983T>G	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.513T>G	19.37:g.21299983T>G						ZNF714_uc002npl.2_Silent_p.S17S|ZNF714_uc010ecp.1_Silent_p.S123S|ZNF714_uc002npn.2_RNA	p.S172S	NM_182515	NP_872321	Q96N38	ZN714_HUMAN			6	876	+			172					Q49AI1|Q86W65|Q8ND40	Silent	SNP	ENST00000596143.1	37	c.516T>G	CCDS54239.1																																																																																				PASS	0.338	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		7	69	7	69	---	---	---	---
ZNF507	22847	broad.mit.edu	37	19	32844259	32844259	+	Missense_Mutation	SNP	G	G	C	rs574653667		TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:32844259G>C	ENST00000311921.4	+	2	715	c.523G>C	c.(523-525)Gtg>Ctg	p.V175L	ZNF507_ENST00000355898.5_Missense_Mutation_p.V175L|ZNF507_ENST00000544431.1_Missense_Mutation_p.V175L	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	175					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.V175L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AGCCCACGTGGTGAATGACCA	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		21178	0.0		0.0	False		,,,				2504	0.001					uc002nte.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(523-525)GTG>CTG		zinc finger protein 507							84.0	82.0	83.0					19																	32844259		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32844259G>C	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.523G>C	19.37:g.32844259G>C	ENSP00000312277:p.Val175Leu					ZNF507_uc002ntc.2_Missense_Mutation_p.V175L|ZNF507_uc010xrn.1_Missense_Mutation_p.V175L|ZNF507_uc002ntd.2_Missense_Mutation_p.V175L	p.V175L	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN			3	795	+	Esophageal squamous(110;0.162)		175			C2H2-type 2.		A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.523G>C	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	G	7.058	0.565779	0.13560	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.05649	3.7;3.7;3.41	5.91	2.44	0.29823	Zinc finger, C2H2-like (1);	0.368664	0.32518	N	0.005981	T	0.05640	0.0148	L	0.56769	1.78	0.23956	N	0.996352	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.36016	-0.9765	10	0.23891	T	0.37	.	1.5701	0.02613	0.2254:0.2667:0.3711:0.1368	.	175;175	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	L	175	ENSP00000348162:V175L;ENSP00000312277:V175L;ENSP00000441549:V175L	ENSP00000312277:V175L	V	+	1	0	ZNF507	37536099	0.562000	0.26586	0.993000	0.49108	0.513000	0.34164	0.117000	0.15583	0.795000	0.33922	0.655000	0.94253	GTG		PASS	0.453	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		15	76	15	76	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38949935	38949935	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:38949935G>T	ENST00000359596.3	+	19	2317	c.2317G>T	c.(2317-2319)Gac>Tac	p.D773Y	RYR1_ENST00000355481.4_Missense_Mutation_p.D773Y|RYR1_ENST00000360985.3_Missense_Mutation_p.D773Y			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	773	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.D773Y(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTTCAACCTGGACGGGCTCTT	0.597																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(2317-2319)GAC>TAC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						110.0	91.0	98.0					19																	38949935		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38949935G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2317G>T	19.37:g.38949935G>T	ENSP00000352608:p.Asp773Tyr					RYR1_uc002oiu.2_Missense_Mutation_p.D773Y	p.D773Y	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		19	2447	+	all_cancers(60;7.91e-06)		773			Cytoplasmic.|B30.2/SPRY 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.2317G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	15.83	2.948662	0.53186	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.74106	-0.81;-0.81;-0.81	4.57	4.57	0.56435	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	U	0.000001	D	0.86736	0.6004	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.88946	0.3383	10	0.87932	D	0	.	17.1506	0.86777	0.0:0.0:1.0:0.0	.	773;773	P21817-2;P21817	.;RYR1_HUMAN	Y	773	ENSP00000352608:D773Y;ENSP00000347667:D773Y;ENSP00000354254:D773Y	ENSP00000347667:D773Y	D	+	1	0	RYR1	43641775	1.000000	0.71417	0.983000	0.44433	0.654000	0.38779	7.828000	0.86729	2.363000	0.80096	0.457000	0.33378	GAC		PASS	0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			4	48	4	48	---	---	---	---
ZNF780B	163131	broad.mit.edu	37	19	40541220	40541220	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:40541220G>C	ENST00000434248.1	-	5	1611	c.1546C>G	c.(1546-1548)Ctt>Gtt	p.L516V	ZNF780B_ENST00000221355.6_Missense_Mutation_p.L368V	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	516					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.L516V(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTTGAACAAGGTTCGAGCCA	0.428																																						uc002omu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1546-1548)CTT>GTT		zinc finger protein 780B							65.0	69.0	68.0					19																	40541220		2203	4300	6503	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40541220G>C	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1546C>G	19.37:g.40541220G>C	ENSP00000391641:p.Leu516Val					ZNF780B_uc002omv.2_Missense_Mutation_p.L368V	p.L516V	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN			5	1611	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		516			C2H2-type 13.		B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.1546C>G	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304546	0.40795	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.52983	0.64;0.64	2.42	2.42	0.29668	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67411	0.2890	M	0.82630	2.6	0.20196	N	0.999921	D	0.53619	0.961	D	0.67382	0.951	T	0.55509	-0.8130	9	0.87932	D	0	.	10.1819	0.42972	0.0:0.0:1.0:0.0	.	516	Q9Y6R6	Z780B_HUMAN	V	516;368	ENSP00000391641:L516V;ENSP00000221355:L368V	ENSP00000221355:L368V	L	-	1	0	ZNF780B	45233060	0.882000	0.30256	0.004000	0.12327	0.090000	0.18270	1.706000	0.37878	1.175000	0.42826	0.462000	0.41574	CTT		PASS	0.428	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		6	53	6	53	---	---	---	---
ZNF780A	284323	broad.mit.edu	37	19	40581599	40581599	+	Missense_Mutation	SNP	T	T	G	rs140183562		TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:40581599T>G	ENST00000595687.2	-	6	959	c.750A>C	c.(748-750)gaA>gaC	p.E250D	ZNF780A_ENST00000455521.1_Missense_Mutation_p.E251D|ZNF780A_ENST00000340963.5_Missense_Mutation_p.E250D|ZNF780A_ENST00000450241.2_Missense_Mutation_p.E216D|ZNF780A_ENST00000594395.1_Missense_Mutation_p.E251D|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	250					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.E251D(2)|p.E216D(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATTCCTTACATTCAAACAGTT	0.393																																						uc002omy.2																			4	Substitution - Missense(4)		lung(4)		0						c.(748-750)GAA>GAC		zinc finger protein 780A isoform b							142.0	143.0	143.0					19																	40581599		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581599T>G	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.750A>C	19.37:g.40581599T>G	ENSP00000472189:p.Glu250Asp					ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.E250D|ZNF780A_uc010xvh.1_Missense_Mutation_p.E251D	p.E250D	NM_001010880	NP_001010880	O75290	Z780A_HUMAN			6	975	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		250			C2H2-type 4.		E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.750A>C	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	T	18.31	3.596311	0.66332	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.22134	1.97;1.97	1.73	1.73	0.24493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29355	0.0731	L	0.48642	1.525	0.19945	N	0.999941	D;D	0.65815	0.995;0.979	P;P	0.61592	0.891;0.76	T	0.09530	-1.0670	9	0.62326	D	0.03	.	3.4953	0.07653	0.0:0.2221:0.0:0.7779	.	251;250	E9PB48;O75290	.;Z780A_HUMAN	D	250;251;250	ENSP00000400997:E251D;ENSP00000341507:E250D	ENSP00000341507:E250D	E	-	3	2	ZNF780A	45273439	0.000000	0.05858	0.914000	0.36105	0.912000	0.54170	-2.086000	0.01361	0.775000	0.33450	0.254000	0.18369	GAA		PASS	0.393	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		4	158	4	158	---	---	---	---
PSG3	5671	broad.mit.edu	37	19	43234133	43234133	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:43234133C>A	ENST00000327495.5	-	4	969	c.785G>T	c.(784-786)tGt>tTt	p.C262F	PSG3_ENST00000595140.1_Missense_Mutation_p.C262F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	262	Ig-like C2-type 2.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.C262F(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CTTAGGTTCACAGGTGAAGGC	0.488																																						uc002oue.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(784-786)TGT>TTT		pregnancy specific beta-1-glycoprotein 3							137.0	150.0	145.0					19																	43234133		1511	2707	4218	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43234133C>A		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.785G>T	19.37:g.43234133C>A	ENSP00000332215:p.Cys262Phe					PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.C284F	p.C262F	NM_021016	NP_066296	Q16557	PSG3_HUMAN			4	917	-		Prostate(69;0.00682)	262			Ig-like C2-type 2.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.785G>T	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	c	9.511	1.105737	0.20632	.	.	ENSG00000221826	ENST00000327495	D	0.94537	-3.45	1.1	1.1	0.20463	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.97714	0.9250	H	0.97587	4.035	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90743	0.4651	9	0.87932	D	0	.	5.5059	0.16854	0.0:1.0:0.0:0.0	.	240;262	Q08266;Q16557	.;PSG3_HUMAN	F	262	ENSP00000332215:C262F	ENSP00000332215:C262F	C	-	2	0	PSG3	47925973	0.027000	0.19231	0.014000	0.15608	0.022000	0.10575	1.932000	0.40143	0.549000	0.28973	0.393000	0.25936	TGT		PASS	0.488	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		33	218	33	218	---	---	---	---
IRGC	56269	broad.mit.edu	37	19	44223251	44223251	+	Silent	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:44223251C>A	ENST00000244314.5	+	2	740	c.541C>A	c.(541-543)Cgg>Agg	p.R181R		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	181	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)	p.R181R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GCGCACCCAGCGGCCGTCGGG	0.682																																					Colon(189;350 2037 11447 13433 38914)	uc002oxh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(541-543)CGG>AGG		immunity-related GTPase family, cinema							19.0	22.0	21.0					19																	44223251		2134	4148	6282	SO:0001819	synonymous_variant	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223251C>A	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.541C>A	19.37:g.44223251C>A							p.R181R	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	688	+		Prostate(69;0.0435)	181					Q05BR8	Silent	SNP	ENST00000244314.5	37	c.541C>A	CCDS12629.1																																																																																				PASS	0.682	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		7	39	7	39	---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46338488	46338488	+	Splice_Site	SNP	T	T	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:46338488T>G	ENST00000245934.7	-	11	1487		c.e11-2			NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin						cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.?(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GATGAGGACCTGTGGGATGCC	0.557																																						uc002pdn.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e11-1		symplekin							67.0	64.0	65.0					19																	46338488		2203	4300	6503	SO:0001630	splice_region_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46338488T>G	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1243-2A>C	19.37:g.46338488T>G						SYMPK_uc002pdo.1_Splice_Site_p.V415_splice|SYMPK_uc002pdp.1_Splice_Site_p.V415_splice|SYMPK_uc002pdq.1_Splice_Site_p.V415_splice	p.V415_splice	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	11	1488	-		all_neural(266;0.0299)|Ovarian(192;0.0308)						O00521|O00689|O00733|Q59GT5|Q8N2U5	Splice_Site	SNP	ENST00000245934.7	37	c.1243_splice	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222985	0.79464	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5206	0.56056	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYMPK	51030328	1.000000	0.71417	0.989000	0.46669	0.961000	0.63080	7.547000	0.82146	2.059000	0.61396	0.477000	0.44152	.		PASS	0.557	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819	Intron	6	80	6	80	---	---	---	---
SLC17A7	57030	broad.mit.edu	37	19	49939821	49939821	+	Silent	SNP	G	G	A	rs569512768		TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:49939821G>A	ENST00000221485.3	-	2	471	c.300C>T	c.(298-300)ggC>ggT	p.G100G	SLC17A7_ENST00000543531.1_Silent_p.G88G|SLC17A7_ENST00000600601.1_Silent_p.G33G	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	100					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)	p.G100G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CCACCACGTGGCCCCCGCGGT	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14140	0.0		0.0	False		,,,				2504	0.0					uc002pnp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(298-300)GGC>GGT		solute carrier family 17, member 7							54.0	48.0	50.0					19																	49939821		2203	4300	6503	SO:0001819	synonymous_variant	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49939821G>A	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.300C>T	19.37:g.49939821G>A						SLC17A7_uc002pnq.1_Silent_p.G33G	p.G100G	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	2	472	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	100			Extracellular (Potential).		B4DFR9|B4DG46|Q6PCD0	Silent	SNP	ENST00000221485.3	37	c.300C>T	CCDS12764.1																																																																																				PASS	0.647	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			4	57	4	57	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51215370	51215370	+	Splice_Site	SNP	G	G	A	rs370961728		TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:51215370G>A	ENST00000293441.1	-	6	812	c.794C>T	c.(793-795)gCg>gTg	p.A265V	SHANK1_ENST00000359082.3_Splice_Site_p.A265V|SHANK1_ENST00000391814.1_Splice_Site_p.A265V	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	265					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.A265V(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTCCAGGAGCGCCTAGGAACG	0.602																																						uc002psx.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(793-795)GCG>GTG		SH3 and multiple ankyrin repeat domains 1							42.0	46.0	45.0					19																	51215370		2203	4300	6503	SO:0001630	splice_region_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51215370G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.793-1C>T	19.37:g.51215370G>A							p.A265V	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	6	813	-		all_neural(266;0.057)	265			ANK 2.		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.794C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470018	0.43839	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.63744	-0.06;-0.06;-0.06	4.68	4.68	0.58851	Ankyrin repeat-containing domain (4);	0.368522	0.20856	U	0.084437	T	0.41880	0.1178	N	0.02665	-0.54	0.43050	D	0.994657	P	0.52170	0.951	B	0.44133	0.442	T	0.56098	-0.8035	10	0.44086	T	0.13	-6.6613	16.7598	0.85509	0.0:0.0:1.0:0.0	.	265	Q9Y566	SHAN1_HUMAN	V	265	ENSP00000293441:A265V;ENSP00000351984:A265V;ENSP00000375690:A265V	ENSP00000293441:A265V	A	-	2	0	SHANK1	55907182	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.403000	0.73264	2.328000	0.79073	0.555000	0.69702	GCG		PASS	0.602	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	Missense_Mutation	6	63	6	63	---	---	---	---
SIGLEC6	946	broad.mit.edu	37	19	52023493	52023493	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:52023493A>T	ENST00000425629.3	-	8	1359	c.1205T>A	c.(1204-1206)tTc>tAc	p.F402Y	SIGLEC6_ENST00000359982.4_Missense_Mutation_p.S386T|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.F386Y|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.F350Y|SIGLEC6_ENST00000391797.3_Silent_p.V332V|SIGLEC6_ENST00000343300.4_Silent_p.V343V|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000474054.1_5'UTR	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	402					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.F402Y(1)|p.F375Y(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GCCTGTCTGGAACTGGTGCTG	0.498																																						uc002pwy.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1204-1206)TTC>TAC		sialic acid binding Ig-like lectin 6 isoform 1							170.0	161.0	164.0					19																	52023493		1946	4138	6084	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52023493A>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.1205T>A	19.37:g.52023493A>T	ENSP00000401502:p.Phe402Tyr					SIGLEC6_uc002pwz.2_Missense_Mutation_p.F386Y|SIGLEC6_uc002pxa.2_Silent_p.V343V|SIGLEC6_uc010ydb.1_Missense_Mutation_p.F339Y|SIGLEC6_uc010ydc.1_Missense_Mutation_p.S375T|SIGLEC6_uc010eoz.1_Silent_p.V321V	p.F402Y	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	8	1367	-		all_neural(266;0.0199)	402			Cytoplasmic (Potential).		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.1205T>A	CCDS12834.3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.013|0.013	-1.622856|-1.622856	0.00820|0.00820	.|.	.|.	ENSG00000105492|ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000436458|ENST00000359982	T;T|T	0.48836|0.32753	1.23;0.8|1.44	2.57|2.57	-1.12|-1.12	0.09808|0.09808	.|.	.|.	.|.	.|.	.|.	T|T	0.21267|0.21267	0.0512|0.0512	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P;P;P|B	0.51057|0.26902	0.77;0.941;0.851|0.163	B;B;B|B	0.37304|0.25884	0.149;0.201;0.246|0.064	T|T	0.24190|0.24190	-1.0167|-1.0167	8|8	0.02654|0.72032	T|D	1|0.01	.|.	6.1137|6.1137	0.20114|0.20114	0.4861:0.0:0.5139:0.0|0.4861:0.0:0.5139:0.0	.|.	350;386;402|386	C9JBE5;O43699-3;O43699|F8WA78	.;.;SIGL6_HUMAN|.	Y|T	375;386;402;350|386	ENSP00000401502:F402Y;ENSP00000410679:F350Y|ENSP00000353071:S386T	ENSP00000344064:F375Y|ENSP00000353071:S386T	F|S	-|-	2|1	0|0	SIGLEC6|SIGLEC6	56715305|56715305	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.280000|-0.280000	0.08468|0.08468	-0.346000|-0.346000	0.08312|0.08312	-0.509000|-0.509000	0.04479|0.04479	TTC|TCC		PASS	0.498	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		7	175	7	175	---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54313840	54313840	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:54313840C>T	ENST00000324134.6	-	3	1241	c.1073G>A	c.(1072-1074)aGg>aAg	p.R358K	NLRP12_ENST00000351894.4_Missense_Mutation_p.R358K|NLRP12_ENST00000354278.3_Missense_Mutation_p.R358K|NLRP12_ENST00000391772.1_Missense_Mutation_p.R358K|NLRP12_ENST00000391775.3_Missense_Mutation_p.R358K|NLRP12_ENST00000535162.1_Missense_Mutation_p.R358K|NLRP12_ENST00000345770.5_Missense_Mutation_p.R358K|NLRP12_ENST00000391773.1_Missense_Mutation_p.R358K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	358	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.R358K(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTCCACATGCCTGGGGTGCTC	0.527																																						uc002qch.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(1072-1074)AGG>AAG		NLR family, pyrin domain containing 12 isoform							114.0	123.0	120.0					19																	54313840		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313840C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1073G>A	19.37:g.54313840C>T	ENSP00000319377:p.Arg358Lys					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.R358K|NLRP12_uc002qcj.3_Missense_Mutation_p.R358K|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R358K	p.R358K	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1293	-	Ovarian(34;0.19)		358			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.1073G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854254	0.71719	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	4.64	3.6	0.41247	NACHT nucleoside triphosphatase (1);	0.000000	0.43919	D	0.000501	D	0.82944	0.5147	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.994;0.994;0.994;0.996	T	0.80144	-0.1505	10	0.33141	T	0.24	.	9.0918	0.36614	0.0:0.8958:0.0:0.1042	.	358;358;358;358	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	K	358	ENSP00000319377:R358K;ENSP00000438030:R358K;ENSP00000340473:R358K;ENSP00000346231:R358K;ENSP00000375655:R358K;ENSP00000375653:R358K;ENSP00000375652:R358K	ENSP00000319377:R358K	R	-	2	0	NLRP12	59005652	0.005000	0.15991	0.846000	0.33378	0.968000	0.65278	0.299000	0.19138	1.097000	0.41459	0.485000	0.47835	AGG		PASS	0.527	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		35	173	35	173	---	---	---	---
ZNF460	10794	broad.mit.edu	37	19	57802790	57802790	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:57802790A>T	ENST00000360338.3	+	3	1203	c.881A>T	c.(880-882)aAt>aTt	p.N294I	ZNF460_ENST00000537645.1_Missense_Mutation_p.N253I	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	294					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.N294I(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TACCGCTCCAATTTTGTCTTG	0.483																																						uc002qog.2																			1	Substitution - Missense(1)		lung(1)		0						c.(880-882)AAT>ATT		zinc finger protein 460							90.0	82.0	84.0					19																	57802790		2203	4300	6503	SO:0001583	missense	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57802790A>T	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.881A>T	19.37:g.57802790A>T	ENSP00000353491:p.Asn294Ile					ZNF460_uc010ygv.1_Missense_Mutation_p.N253I	p.N294I	NM_006635	NP_006626	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1203	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	294			C2H2-type 4.		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	c.881A>T	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.950587	0.34377	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.36699	1.24;1.24	1.34	0.184	0.15086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29914	0.0748	M	0.67517	2.055	0.09310	N	1	P	0.42010	0.768	B	0.40009	0.316	T	0.15578	-1.0432	9	0.23302	T	0.38	.	2.9041	0.05715	0.5657:0.2636:0.1707:0.0	.	294	Q14592	ZN460_HUMAN	I	253;294	ENSP00000446167:N253I;ENSP00000353491:N294I	ENSP00000353491:N294I	N	+	2	0	ZNF460	62494602	0.000000	0.05858	0.009000	0.14445	0.566000	0.35808	-2.042000	0.01414	-0.014000	0.14175	0.528000	0.53228	AAT		PASS	0.483	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		17	80	17	80	---	---	---	---
ZNF548	147694	broad.mit.edu	37	19	57909941	57909941	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr19:57909941A>G	ENST00000366197.5	+	3	536	c.286A>G	c.(286-288)Att>Gtt	p.I96V	AC003002.4_ENST00000597658.1_Missense_Mutation_p.I99V|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.I108V|AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000597400.1_3'UTR	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	96					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.I108V(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTGAAAGACATTCTGTGCCT	0.468																																						uc002qom.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(286-288)ATT>GTT		zinc finger protein 548							104.0	100.0	101.0					19																	57909941		2024	4192	6216	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57909941A>G	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.286A>G	19.37:g.57909941A>G	ENSP00000379482:p.Ile96Val					ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.I99V	p.I96V	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	536	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	96					Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.286A>G	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	A	9.072	0.997045	0.19043	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.06608	3.3;3.28	2.86	-1.81	0.07882	.	.	.	.	.	T	0.04272	0.0118	L	0.33093	0.98	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44528	-0.9322	9	0.24483	T	0.36	.	4.554	0.12128	0.4846:0.1828:0.3327:0.0	.	108;96	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	V	108;96	ENSP00000337555:I108V;ENSP00000379482:I96V	ENSP00000337555:I108V	I	+	1	0	ZNF548	62601753	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-1.890000	0.01613	-0.524000	0.06400	0.482000	0.46254	ATT		PASS	0.468	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		9	104	9	104	---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8713910	8713910	+	Silent	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr20:8713910G>A	ENST00000338037.6	+	19	1941	c.1914G>A	c.(1912-1914)ggG>ggA	p.G638G	PLCB1_ENST00000378637.2_Silent_p.G638G|PLCB1_ENST00000378641.3_Silent_p.G638G|PLCB1_ENST00000494924.1_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	638	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.G638G(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TAAATATGGGGATGTATGAAT	0.393																																						uc002wnb.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(1912-1914)GGG>GGA		phosphoinositide-specific phospholipase C beta 1							125.0	119.0	121.0					20																	8713910		2203	4300	6503	SO:0001819	synonymous_variant	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8713910G>A	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1914G>A	20.37:g.8713910G>A						PLCB1_uc010zrb.1_Silent_p.G537G|PLCB1_uc002wna.2_Silent_p.G638G|PLCB1_uc002wnc.1_Silent_p.G537G|PLCB1_uc002wnd.1_Silent_p.G215G	p.G638G	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			19	1917	+			638			PI-PLC Y-box.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	c.1914G>A	CCDS13102.1																																																																																				PASS	0.393	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			9	68	9	68	---	---	---	---
RBL1	5933	broad.mit.edu	37	20	35696516	35696516	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr20:35696516T>C	ENST00000373664.3	-	3	430	c.364A>G	c.(364-366)Ata>Gta	p.I122V	RBL1_ENST00000344359.3_Missense_Mutation_p.I122V	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	122					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)	p.I122V(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AGCCTTTCTATACGTTCACGA	0.284																																						uc002xgi.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(3)|ovary(2)	10						c.(364-366)ATA>GTA		retinoblastoma-like protein 1 isoform a							43.0	44.0	43.0					20																	35696516		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35696516T>C	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.364A>G	20.37:g.35696516T>C	ENSP00000362768:p.Ile122Val					RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.I122V|RBL1_uc010gfv.1_RNA	p.I122V	NM_002895	NP_002886	P28749	RBL1_HUMAN			3	443	-		Myeloproliferative disorder(115;0.00878)	122					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.364A>G	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	T	5.158	0.214759	0.09810	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	T;T	0.72942	-0.7;-0.7	5.1	4.01	0.46588	Domain of unknown function DUF3452, retinoblastoma-associated (1);	0.274047	0.43579	N	0.000550	T	0.48241	0.1489	N	0.20445	0.575	0.36233	D	0.852771	B;B	0.02656	0.0;0.0	B;B	0.13407	0.001;0.009	T	0.40478	-0.9561	10	0.11794	T	0.64	-1.1864	5.4427	0.16517	0.0:0.3222:0.0:0.6778	.	122;122	P28749-2;P28749	.;RBL1_HUMAN	V	122	ENSP00000362768:I122V;ENSP00000343646:I122V	ENSP00000343646:I122V	I	-	1	0	RBL1	35129930	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	1.042000	0.30303	0.982000	0.38575	0.482000	0.46254	ATA		PASS	0.284	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		7	42	7	42	---	---	---	---
NCOA5	57727	broad.mit.edu	37	20	44691090	44691090	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr20:44691090G>C	ENST00000290231.6	-	8	1753	c.1589C>G	c.(1588-1590)tCc>tGc	p.S530C		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	530	Transcription activation.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S530C(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GATACCTGTGGAAGACACAGG	0.572																																						uc002xrd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1588-1590)TCC>TGC		nuclear receptor coactivator 5							50.0	46.0	48.0					20																	44691090		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44691090G>C		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1589C>G	20.37:g.44691090G>C	ENSP00000290231:p.Ser530Cys					NCOA5_uc002xrc.2_3'UTR|NCOA5_uc002xre.2_Missense_Mutation_p.S530C	p.S530C	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN			7	2117	-		Myeloproliferative disorder(115;0.0122)	530			Transcription activation.		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.1589C>G	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971749	0.74246	.	.	ENSG00000124160	ENST00000290231	T	0.33216	1.42	5.54	5.54	0.83059	.	0.351442	0.34484	N	0.003927	T	0.45377	0.1339	L	0.34521	1.04	0.51012	D	0.999907	D	0.71674	0.998	D	0.64776	0.929	T	0.32214	-0.9915	10	0.66056	D	0.02	-0.7266	18.6556	0.91452	0.0:0.0:1.0:0.0	.	530	Q9HCD5	NCOA5_HUMAN	C	530	ENSP00000290231:S530C	ENSP00000290231:S530C	S	-	2	0	NCOA5	44124497	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.064000	0.76721	2.884000	0.98904	0.655000	0.94253	TCC		PASS	0.572	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		17	32	17	32	---	---	---	---
RAE1	8480	broad.mit.edu	37	20	55948590	55948590	+	Silent	SNP	A	A	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr20:55948590A>T	ENST00000395841.2	+	9	1122	c.702A>T	c.(700-702)ggA>ggT	p.G234G	RAE1_ENST00000395840.2_Silent_p.G234G|RAE1_ENST00000527947.1_Silent_p.G234G|RAE1_ENST00000371242.2_Silent_p.G234G	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	234					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)	p.G234G(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			TTGCCCTGGGAAGTATCGAGG	0.408																																						uc002xyg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(700-702)GGA>GGT		RAE1 (RNA export 1, S.pombe) homolog							119.0	120.0	119.0					20																	55948590		2203	4300	6503	SO:0001819	synonymous_variant	8480				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	g.chr20:55948590A>T	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.702A>T	20.37:g.55948590A>T						RAE1_uc010gis.1_Silent_p.G187G|RAE1_uc010git.1_Silent_p.G234G|RAE1_uc002xyh.2_Silent_p.G234G|RAE1_uc002xyi.2_Silent_p.G234G	p.G234G	NM_003610	NP_003601	P78406	RAE1L_HUMAN	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		9	1043	+	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		234					A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Silent	SNP	ENST00000395841.2	37	c.702A>T	CCDS13458.1																																																																																				PASS	0.408	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2			13	123	13	123	---	---	---	---
RBM11	54033	broad.mit.edu	37	21	15599537	15599537	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr21:15599537G>C	ENST00000400577.3	+	5	778	c.769G>C	c.(769-771)Gat>Cat	p.D257H	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	257					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)	p.D257H(1)		endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AAGTGATAGTGATAGTAGCAC	0.388																																						uc002yjo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(769-771)GAT>CAT		RNA binding motif protein 11							171.0	167.0	168.0					21																	15599537		1945	4146	6091	SO:0001583	missense	54033						nucleotide binding|RNA binding	g.chr21:15599537G>C	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.769G>C	21.37:g.15599537G>C	ENSP00000383421:p.Asp257His					RBM11_uc002yjn.3_Missense_Mutation_p.D143H|RBM11_uc002yjp.3_Missense_Mutation_p.D143H	p.D257H	NM_144770	NP_658983	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	5	811	+			257					Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	c.769G>C	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594319	0.66219	.	.	ENSG00000185272	ENST00000400577	T	0.11495	2.77	4.89	4.89	0.63831	.	0.152382	0.45361	D	0.000368	T	0.26159	0.0638	L	0.60455	1.87	0.33991	D	0.649114	D	0.89917	1.0	D	0.68765	0.96	T	0.21245	-1.0251	10	0.87932	D	0	-33.7255	11.0905	0.48113	0.0882:0.0:0.9118:0.0	.	257	P57052	RBM11_HUMAN	H	257	ENSP00000383421:D257H	ENSP00000383421:D257H	D	+	1	0	RBM11	14521408	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.829000	0.55760	2.652000	0.90054	0.650000	0.86243	GAT		PASS	0.388	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		5	148	5	148	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22746206	22746206	+	Silent	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr21:22746206C>A	ENST00000400546.1	+	9	1317	c.1068C>A	c.(1066-1068)gtC>gtA	p.V356V	NCAM2_ENST00000535285.1_Silent_p.V381V|NCAM2_ENST00000284894.7_Silent_p.V214V	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	356	Ig-like C2-type 4.				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.V356V(2)		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)		GTATCGAAGTCAAAGGGCAGC	0.423																																						uc002yld.1																			2	Substitution - coding silent(2)		cervix(1)|lung(1)	ovary(4)	4						c.(1066-1068)GTC>GTA		neural cell adhesion molecule 2 precursor							140.0	131.0	134.0					21																	22746206		1926	4122	6048	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22746206C>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.1068C>A	21.37:g.22746206C>A						NCAM2_uc011acb.1_Silent_p.V214V|NCAM2_uc011acc.1_Silent_p.V381V	p.V356V	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)	9	1317	+		Lung NSC(9;0.195)	356			Ig-like C2-type 4.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.1068C>A	CCDS42910.1																																																																																				PASS	0.423	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		16	54	16	54	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41385159	41385159	+	Silent	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr21:41385159C>T	ENST00000400454.1	-	33	6318	c.5841G>A	c.(5839-5841)ccG>ccA	p.P1947P		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1947				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.P1947P(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGGCTTCCATCGGGATGGGCT	0.657																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(5839-5841)CCG>CCA		Down syndrome cell adhesion molecule isoform							35.0	37.0	36.0					21																	41385159		1966	4136	6102	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41385159C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5841G>A	21.37:g.41385159C>T						DSCAM_uc002yyr.1_RNA	p.P1947P	NM_001389	NP_001380	O60469	DSCAM_HUMAN			33	6293	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1947	HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).		Cytoplasmic (Potential).		O60468	Silent	SNP	ENST00000400454.1	37	c.5841G>A	CCDS42929.1																																																																																				PASS	0.657	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		12	31	12	31	---	---	---	---
PITPNB	23760	broad.mit.edu	37	22	28293859	28293859	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr22:28293859C>G	ENST00000335272.5	-	4	295	c.219G>C	c.(217-219)agG>agC	p.R73S	PITPNB_ENST00000455418.3_Missense_Mutation_p.R75S|PITPNB_ENST00000320996.10_Missense_Mutation_p.R73S	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	73					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	lipid binding (GO:0008289)	p.R73S(2)		large_intestine(4)|lung(3)|skin(1)	8						GAGCAATCATCCTCACGAATG	0.478																																						uc003adk.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(217-219)AGG>AGC		phosphatidylinositol transfer protein, beta							93.0	80.0	85.0					22																	28293859		2203	4300	6503	SO:0001583	missense	23760				lipid metabolic process|transport	Golgi apparatus	lipid binding	g.chr22:28293859C>G	D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957			9002	protein-coding gene	gene with protein product		606876				10591208	Standard	NM_012399		Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976	ENST00000335272.5:c.219G>C	22.37:g.28293859C>G	ENSP00000334738:p.Arg73Ser					PITPNB_uc011akh.1_Missense_Mutation_p.R75S|PITPNB_uc003adl.2_Missense_Mutation_p.R73S	p.R73S	NM_012399	NP_036531	P48739	PIPNB_HUMAN			4	295	-			73					B3KYB8|B7Z7Q0|Q8N5W1	Missense_Mutation	SNP	ENST00000335272.5	37	c.219G>C	CCDS13842.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294489	0.60086	.	.	ENSG00000180957	ENST00000335272;ENST00000320996;ENST00000455418;ENST00000436663	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.95	0.467	0.16721	START-like domain (1);	0.043943	0.85682	D	0.000000	T	0.50650	0.1628	M	0.79011	2.435	0.43351	D	0.995419	B;B;B	0.34226	0.258;0.024;0.443	B;B;B	0.40677	0.29;0.065;0.337	T	0.51608	-0.8684	10	0.66056	D	0.02	-30.2605	9.4514	0.38727	0.0:0.5678:0.0:0.4322	.	75;73;73	B7Z7Q0;P48739-2;P48739	.;.;PIPNB_HUMAN	S	73;73;75;75	ENSP00000334738:R73S;ENSP00000321266:R73S;ENSP00000405179:R75S;ENSP00000403675:R75S	ENSP00000321266:R73S	R	-	3	2	PITPNB	26623859	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	1.026000	0.30103	-0.048000	0.13401	0.655000	0.94253	AGG		PASS	0.478	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320740.1			27	113	27	113	---	---	---	---
PRR14L	253143	broad.mit.edu	37	22	32072807	32072807	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr22:32072807G>A	ENST00000397493.2	-	9	6569	c.6377C>T	c.(6376-6378)cCg>cTg	p.P2126L				Q5THK1	PR14L_HUMAN	proline rich 14-like	0								p.P279L(1)|p.P2126L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						TCTCCAGCCCGGCAGGTACCA	0.647																																						uc003alo.1																			2	Substitution - Missense(2)		lung(2)		0						c.(5773-5775)CCG>CTG		hypothetical protein LOC253143							15.0	12.0	13.0					22																	32072807		2194	4295	6489	SO:0001583	missense	253143							g.chr22:32072807G>A	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000397493.2:c.6377C>T	22.37:g.32072807G>A	ENSP00000380630:p.Pro2126Leu						p.P1925L	NM_173566	NP_775837	Q5THK1	PR14L_HUMAN			6	5830	-			Error:Variant_position_missing_in_Q5THK1_after_alignment					Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	ENST00000397493.2	37	c.5774C>T		.	.	.	.	.	.	.	.	.	.	G	0.050	-1.254327	0.01457	.	.	ENSG00000183530	ENST00000397493	T	0.06142	3.34	0.356	-0.711	0.11230	.	.	.	.	.	T	0.04407	0.0121	.	.	.	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.45338	-0.9268	7	0.87932	D	0	.	.	.	.	.	2126	Q5THK1-4	.	L	2126	ENSP00000380630:P2126L	ENSP00000380630:P2126L	P	-	2	0	PRR14L	30402807	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-1.948000	0.01033	-1.979000	0.00458	CCG		PASS	0.647	PRR14L-201	KNOWN	basic	protein_coding	protein_coding		NM_173566		5	15	5	15	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36715597	36715597	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr22:36715597G>A	ENST00000216181.5	-	10	1326	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	366	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.P366S(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GTGTTGTCGGGCATGGACGCC	0.577			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(1096-1098)CCC>TCC		myosin, heavy polypeptide 9, non-muscle							96.0	79.0	85.0					22																	36715597		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36715597G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1096C>T	22.37:g.36715597G>A	ENSP00000216181:p.Pro366Ser					MYH9_uc003aph.1_Missense_Mutation_p.P230S	p.P366S	NM_002473	NP_002464	P35579	MYH9_HUMAN			10	1327	-			366			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1096C>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168960	0.94768	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.86627	-2.15	5.23	5.23	0.72850	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.84678	0.5525	L	0.45581	1.43	0.80722	D	1	B	0.24768	0.111	B	0.21151	0.033	T	0.82420	-0.0466	10	0.66056	D	0.02	.	18.4837	0.90821	0.0:0.0:1.0:0.0	.	366	P35579	MYH9_HUMAN	S	230;366	ENSP00000216181:P366S	ENSP00000216181:P366S	P	-	1	0	MYH9	35045543	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.869000	0.99810	2.450000	0.82876	0.650000	0.86243	CCC		PASS	0.577	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		3	39	3	39	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36723505	36723505	+	Splice_Site	SNP	C	C	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr22:36723505C>T	ENST00000216181.5	-	4	749		c.e4+1		MYH9_ENST00000401701.1_Splice_Site	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle						actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.?(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GAAATACTTACGTGCACAAGA	0.502			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		1	Unknown(1)		lung(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.e4+1		myosin, heavy polypeptide 9, non-muscle							147.0	116.0	126.0					22																	36723505		2203	4300	6503	SO:0001630	splice_region_variant	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36723505C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.518+1G>A	22.37:g.36723505C>T						MYH9_uc003aph.1_Splice_Site_p.T37_splice|MYH9_uc003api.1_Splice_Site_p.T173_splice	p.T173_splice	NM_002473	NP_002464	P35579	MYH9_HUMAN			4	749	-								A8K6E4|O60805|Q60FE2|Q86T83	Splice_Site	SNP	ENST00000216181.5	37	c.518_splice	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457035	0.84317	.	.	ENSG00000100345	ENST00000337818;ENST00000216181;ENST00000401701	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6042	0.91261	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH9	35053451	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.484000	0.81180	2.368000	0.80403	0.650000	0.86243	.		PASS	0.502	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	Intron	13	48	13	48	---	---	---	---
SSTR3	6753	broad.mit.edu	37	22	37603337	37603337	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr22:37603337A>T	ENST00000328544.3	-	2	1039	c.506T>A	c.(505-507)gTg>gAg	p.V169E	SSTR3_ENST00000402501.1_Missense_Mutation_p.V169E	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	169					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.V169E(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GGCTGAGGCCACCCACACAGC	0.731																																						uc003ara.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(505-507)GTG>GAG		somatostatin receptor 3							28.0	29.0	29.0					22																	37603337		2201	4292	6493	SO:0001583	missense	6753				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603337A>T		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.506T>A	22.37:g.37603337A>T	ENSP00000330138:p.Val169Glu					SSTR3_uc003arb.2_Missense_Mutation_p.V169E	p.V169E	NM_001051	NP_001042	P32745	SSR3_HUMAN			2	568	-			169			Helical; Name=4; (Potential).		A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.506T>A	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	A	18.98	3.738006	0.69304	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.41758	0.99;0.99	5.64	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	0.381307	0.28072	N	0.016716	T	0.64571	0.2610	M	0.93854	3.465	0.36179	D	0.849317	P	0.37015	0.578	P	0.50708	0.648	T	0.73500	-0.3963	10	0.59425	D	0.04	.	9.3193	0.37955	0.8556:0.0:0.1444:0.0	.	169	P32745	SSR3_HUMAN	E	169	ENSP00000330138:V169E;ENSP00000384904:V169E	ENSP00000330138:V169E	V	-	2	0	SSTR3	35933283	0.994000	0.37717	1.000000	0.80357	0.947000	0.59692	2.819000	0.48049	0.983000	0.38602	0.460000	0.39030	GTG		PASS	0.731	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			10	52	10	52	---	---	---	---
MCAT	27349	broad.mit.edu	37	22	43533133	43533133	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr22:43533133G>C	ENST00000290429.6	-	3	728	c.683C>G	c.(682-684)tCc>tGc	p.S228C	MCAT_ENST00000327555.5_Intron	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	228					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)	p.S228C(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GAGGTAGTTGGACACTTCACA	0.527											OREG0026613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003bdl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(682-684)TCC>TGC		mitochondrial malonyltransferase isoform a							212.0	198.0	203.0					22																	43533133		2203	4300	6503	SO:0001583	missense	27349				fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	g.chr22:43533133G>C	AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.683C>G	22.37:g.43533133G>C	ENSP00000290429:p.Ser228Cys		OREG0026613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	917	MCAT_uc003bdm.1_Intron	p.S228C	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN			3	732	-		Ovarian(80;0.0694)	228					B0QY72|O95510|O95511	Missense_Mutation	SNP	ENST00000290429.6	37	c.683C>G	CCDS33660.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747992	0.89663	.	.	ENSG00000100294	ENST00000290429	T	0.45668	0.89	5.13	5.13	0.70059	Acyl transferase/acyl hydrolase/lysophospholipase (1);Malonyl-CoA ACP transacylase, ACP-binding (1);Acyl transferase (1);	0.306075	0.34411	N	0.004000	T	0.55000	0.1893	L	0.46157	1.445	0.58432	D	0.99999	D	0.58970	0.984	P	0.57324	0.818	T	0.58657	-0.7598	10	0.87932	D	0	-22.635	18.5829	0.91178	0.0:0.0:1.0:0.0	.	228	Q8IVS2	FABD_HUMAN	C	228	ENSP00000290429:S228C	ENSP00000290429:S228C	S	-	2	0	MCAT	41863077	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.199000	0.95003	2.387000	0.81309	0.591000	0.81541	TCC		PASS	0.527	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467		17	197	17	197	---	---	---	---
MID1	4281	broad.mit.edu	37	X	10535112	10535112	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chrX:10535112T>C	ENST00000317552.4	-	2	876	c.476A>G	c.(475-477)cAt>cGt	p.H159R	MID1_ENST00000380780.1_Missense_Mutation_p.H159R|MID1_ENST00000453318.2_Missense_Mutation_p.H159R|MID1_ENST00000380787.1_Missense_Mutation_p.H159R|MID1_ENST00000380779.1_Missense_Mutation_p.H159R|MID1_ENST00000380782.2_Missense_Mutation_p.H159R|MID1_ENST00000380785.1_Missense_Mutation_p.H159R	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	159					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H159R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						AATCAGACGATGGCCTGTAAA	0.527																																						uc004cte.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(475-477)CAT>CGT		midline 1							92.0	77.0	82.0					X																	10535112		2203	4300	6503	SO:0001583	missense	4281				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10535112T>C	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.476A>G	X.37:g.10535112T>C	ENSP00000312678:p.His159Arg					MID1_uc004ctd.3_5'Flank|MID1_uc004ctg.3_Missense_Mutation_p.H159R|MID1_uc004cth.3_Missense_Mutation_p.H159R|MID1_uc004ctk.3_Missense_Mutation_p.H159R|MID1_uc004cti.3_Missense_Mutation_p.H159R|MID1_uc004ctj.3_Missense_Mutation_p.H159R|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Missense_Mutation_p.H159R|MID1_uc004ctn.1_Missense_Mutation_p.H159R|MID1_uc004cto.1_Missense_Mutation_p.H159R|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.2_Missense_Mutation_p.H159R|MID1_uc004ctu.2_Missense_Mutation_p.H159R|MID1_uc004ctv.2_Missense_Mutation_p.H159R|MID1_uc004ctw.2_Missense_Mutation_p.H159R|MID1_uc010ndy.1_Missense_Mutation_p.H159R|uc010ndz.1_5'Flank|MID1_uc004cty.2_Missense_Mutation_p.H159R|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_RNA|MID1_uc004cub.1_Missense_Mutation_p.H159R|MID1_uc010nea.1_Intron|MID1_uc004cuc.1_Missense_Mutation_p.H159R|MID1_uc004cud.1_Missense_Mutation_p.H159R|MID1_uc004cue.1_Missense_Mutation_p.H159R|MID1_uc004cuf.1_Missense_Mutation_p.H159R|MID1_uc004cug.1_Missense_Mutation_p.H159R	p.H159R	NM_033290	NP_150632	O15344	TRI18_HUMAN			2	667	-			159			B box-type 1.	Zinc 2.	B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.476A>G	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946761	0.73672	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894;ENST00000423614	D;D;D;D;D;D;D;D;D	0.95853	-3.83;-3.83;-3.83;-3.83;-3.83;-3.83;-3.83;-3.83;-3.83	5.64	5.64	0.86602	Zinc finger, B-box (1);	0.000000	0.85682	D	0.000000	D	0.98473	0.9491	H	0.96365	3.81	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;0.999;0.999	D	0.99616	1.0982	10	0.87932	D	0	.	14.9253	0.70871	0.0:0.0:0.0:1.0	.	159;159;159;159;159;159	C9JZJ7;B7Z5K6;C9J453;O15344-2;A8K5A0;O15344	.;.;.;.;.;TRI18_HUMAN	R	159;159;159;159;159;159;159;147;159;159	ENSP00000414521:H159R;ENSP00000312678:H159R;ENSP00000370162:H159R;ENSP00000370156:H159R;ENSP00000370164:H159R;ENSP00000370157:H159R;ENSP00000370159:H159R;ENSP00000391154:H159R;ENSP00000387771:H159R	ENSP00000312678:H159R	H	-	2	0	MID1	10495112	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.880000	0.87243	1.907000	0.55213	0.486000	0.48141	CAT		PASS	0.527	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			3	37	3	37	---	---	---	---
DMD	1756	broad.mit.edu	37	X	31514965	31514965	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chrX:31514965G>T	ENST00000357033.4	-	57	8693	c.8487C>A	c.(8485-8487)agC>agA	p.S2829R	DMD_ENST00000378707.3_Missense_Mutation_p.S369R|DMD_ENST00000378677.2_Missense_Mutation_p.S2825R|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000343523.2_Missense_Mutation_p.S369R|DMD_ENST00000474231.1_Missense_Mutation_p.S369R|DMD_ENST00000359836.1_Missense_Mutation_p.S369R|DMD_ENST00000541735.1_Missense_Mutation_p.S369R	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	2829					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.S1488R(1)|p.S2829R(1)|p.S369R(1)|p.S2824R(1)|p.S2825R(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)				GTGCCTGCCGGCTTAATTCAT	0.498																																						uc004dda.1																			5	Substitution - Missense(5)		lung(5)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(8485-8487)AGC>AGA		dystrophin Dp427m isoform							67.0	55.0	59.0					X																	31514965		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31514965G>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.8487C>A	X.37:g.31514965G>T	ENSP00000354923:p.Ser2829Arg					DMD_uc004dcq.1_Missense_Mutation_p.S100R|DMD_uc004dcr.1_Missense_Mutation_p.S369R|DMD_uc004dcs.1_Missense_Mutation_p.S369R|DMD_uc004dct.1_Missense_Mutation_p.S369R|DMD_uc004dcu.1_Missense_Mutation_p.S369R|DMD_uc004dcv.1_Missense_Mutation_p.S369R|DMD_uc004dcw.2_Missense_Mutation_p.S1485R|DMD_uc004dcx.2_Missense_Mutation_p.S1488R|DMD_uc004dcz.2_Missense_Mutation_p.S2706R|DMD_uc004dcy.1_Missense_Mutation_p.S2825R|DMD_uc004ddb.1_Missense_Mutation_p.S2821R	p.S2829R	NM_004006	NP_003997	P11532	DMD_HUMAN			57	8731	-		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)	2829			Spectrin 20.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.8487C>A	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.338|9.338	1.062215|1.062215	0.19987|0.19987	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|T;T;T;T;T;T;T;T	.|0.35973	.|1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.87|5.87	4.1|4.1	0.47936|0.47936	.|.	.|0.322232	.|0.21898	.|U	.|0.067482	T|T	0.26991|0.26991	0.0661|0.0661	L|L	0.28400|0.28400	0.85|0.85	0.30798|0.30798	N|N	0.740226|0.740226	.|P;B;B;B;B;B;B;B;B;B;B	.|0.43412	.|0.806;0.013;0.267;0.008;0.008;0.005;0.001;0.0;0.005;0.008;0.022	.|P;B;B;B;B;B;B;B;B;B;B	.|0.46685	.|0.524;0.01;0.039;0.001;0.001;0.029;0.001;0.001;0.003;0.007;0.037	T|T	0.22312|0.22312	-1.0220|-1.0220	5|10	.|0.37606	.|T	.|0.19	.|.	1.9053|1.9053	0.03275|0.03275	0.1687:0.2469:0.4303:0.1541|0.1687:0.2469:0.4303:0.1541	.|.	.|2821;2829;2825;1488;1485;369;369;369;369;369;2706	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	T|R	558|2821;1488;1485;525;2825;2829;369;369;2829;2706;369;369;369	.|ENSP00000350765:S525R;ENSP00000367948:S2825R;ENSP00000354923:S2829R;ENSP00000352894:S369R;ENSP00000340057:S369R;ENSP00000367979:S369R;ENSP00000444119:S369R;ENSP00000417123:S369R	.|ENSP00000340057:S369R	P|S	-|-	1|3	0|2	DMD|DMD	31424886|31424886	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.255000|1.255000	0.32909|0.32909	1.235000|1.235000	0.43724|0.43724	-0.198000|-0.198000	0.12761|0.12761	CCG|AGC		PASS	0.498	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		12	25	12	25	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50377041	50377041	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chrX:50377041T>C	ENST00000289292.7	-	4	2315	c.2032A>G	c.(2032-2034)Agg>Ggg	p.R678G	SHROOM4_ENST00000376020.2_Missense_Mutation_p.R678G|SHROOM4_ENST00000460112.3_Missense_Mutation_p.R562G			Q9ULL8	SHRM4_HUMAN	shroom family member 4	678					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.R678G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AAGCCTGTCCTAGATTCATGG	0.562																																						uc004dpe.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(2032-2034)AGG>GGG		shroom family member 4							40.0	36.0	37.0					X																	50377041		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377041T>C	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2032A>G	X.37:g.50377041T>C	ENSP00000289292:p.Arg678Gly					SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.R562G	p.R678G	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			4	2058	-	Ovarian(276;0.236)		678					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.2032A>G	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.169949	0.38315	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.91068	-2.78;-2.78;-2.78	5.91	4.7	0.59300	.	0.067852	0.64402	D	0.000020	D	0.90827	0.7119	M	0.65975	2.015	0.30185	N	0.800001	D	0.56521	0.976	P	0.52481	0.7	D	0.87000	0.2116	10	0.27082	T	0.32	.	9.3912	0.38374	0.1602:0.0:0.0:0.8398	.	678	Q9ULL8	SHRM4_HUMAN	G	678;678;562	ENSP00000289292:R678G;ENSP00000365188:R678G;ENSP00000421450:R562G	ENSP00000289292:R678G	R	-	1	2	SHROOM4	50393781	0.000000	0.05858	0.795000	0.32087	0.942000	0.58702	0.184000	0.16939	1.982000	0.57802	0.486000	0.48141	AGG		PASS	0.562	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		6	15	6	15	---	---	---	---
TBX22	50945	broad.mit.edu	37	X	79281249	79281249	+	Silent	SNP	C	C	A			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chrX:79281249C>A	ENST00000373294.5	+	4	634	c.606C>A	c.(604-606)acC>acA	p.T202T	TBX22_ENST00000442340.1_Silent_p.T82T|TBX22_ENST00000373296.3_Silent_p.T202T|TBX22_ENST00000373291.1_Silent_p.T82T	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	202					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|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)	p.T202T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGAAACTCACCAACAATGAGA	0.542																																						uc010nmg.1																			1	Substitution - coding silent(1)		lung(1)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(604-606)ACC>ACA		T-box 22 isoform 1							102.0	66.0	78.0					X																	79281249		2203	4300	6503	SO:0001819	synonymous_variant	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79281249C>A	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.606C>A	X.37:g.79281249C>A						TBX22_uc004edi.1_Silent_p.T82T|TBX22_uc004edj.1_Silent_p.T202T	p.T202T	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			5	740	+			202			T-box.		Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	ENST00000373294.5	37	c.606C>A	CCDS14445.1																																																																																				PASS	0.542	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		3	13	3	13	---	---	---	---
XIAP	331	broad.mit.edu	37	X	123040952	123040952	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chrX:123040952A>G	ENST00000371199.3	+	7	1714	c.1415A>G	c.(1414-1416)aAa>aGa	p.K472R	XIAP_ENST00000434753.3_Missense_Mutation_p.K472R|XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000355640.3_Missense_Mutation_p.K472R	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	472					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K472R(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GTCACTTGTAAACAATGTGCT	0.388									X-linked Lymphoproliferative syndrome																													uc010nqu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1414-1416)AAA>AGA		baculoviral IAP repeat-containing protein 4							93.0	81.0	85.0					X																	123040952		2203	4300	6503	SO:0001583	missense	331	X-linked_Lymphoproliferative_syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123040952A>G	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.1415A>G	X.37:g.123040952A>G	ENSP00000360242:p.Lys472Arg					XIAP_uc004etx.2_Missense_Mutation_p.K472R|XIAP_uc010nqv.2_Missense_Mutation_p.K98R	p.K472R	NM_001167	NP_001158	P98170	XIAP_HUMAN			7	1541	+			472			RING-type.		D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	c.1415A>G	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	a	15.35	2.807715	0.50421	.	.	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	T;T;T	0.79454	-1.27;-1.27;-1.27	5.52	5.52	0.82312	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.257299	0.33753	N	0.004598	T	0.65154	0.2664	N	0.25286	0.73	0.31657	N	0.646068	P	0.41673	0.759	B	0.40982	0.345	T	0.69405	-0.5154	9	.	.	.	-0.0614	10.4798	0.44687	0.8395:0.1605:0.0:0.0	.	472	P98170	XIAP_HUMAN	R	472	ENSP00000395230:K472R;ENSP00000360242:K472R;ENSP00000347858:K472R	.	K	+	2	0	XIAP	122868633	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.671000	0.54576	1.841000	0.53522	0.437000	0.28790	AAA		PASS	0.388	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		4	34	4	34	---	---	---	---
GAB3	139716	broad.mit.edu	37	X	153927772	153927772	+	Missense_Mutation	SNP	G	G	A	rs193262930		TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chrX:153927772G>A	ENST00000369575.3	-	6	1170	c.1139C>T	c.(1138-1140)cCg>cTg	p.P380L	GAB3_ENST00000424127.2_Missense_Mutation_p.P381L|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	380					macrophage differentiation (GO:0030225)			p.P380L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGGGTACATCGGGGAGAACCT	0.547													G|||	1	0.000264901	0.0	0.0	3775	,	,		13057	0.001		0.0	False		,,,				2504	0.0					uc004fmj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1138-1140)CCG>CTG		Gab3 protein isoform 2		G	LEU/PRO,LEU/PRO	0,3835		0,0,1632,571	50.0	47.0	48.0		1142,1139	1.5	0.0	X		48	1,6727		0,1,2427,1872	no	missense,missense	GAB3	NM_001081573.1,NM_080612.2	98,98	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign,benign	381/588,380/587	153927772	1,10562	2203	4300	6503	SO:0001583	missense	139716							g.chrX:153927772G>A	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1139C>T	X.37:g.153927772G>A	ENSP00000358588:p.Pro380Leu					GAB3_uc004fmk.1_Missense_Mutation_p.P381L|GAB3_uc010nve.1_Missense_Mutation_p.P381L|GAB3_uc004fml.1_5'UTR	p.P380L	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN			6	1187	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		380					A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	c.1139C>T	CCDS14760.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.538	-0.855082	0.02630	0.0	1.49E-4	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.18657	2.2;2.2;2.2	5.85	1.45	0.22620	.	0.669742	0.15690	N	0.249483	T	0.15825	0.0381	L	0.42581	1.335	0.09310	N	0.999999	B;B;B	0.19445	0.015;0.036;0.015	B;B;B	0.10450	0.005;0.005;0.005	T	0.28490	-1.0042	10	0.20046	T	0.44	-8.1698	9.4383	0.38653	0.3898:0.0:0.6102:0.0	.	381;381;380	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	L	380;381;381	ENSP00000358588:P380L;ENSP00000358581:P381L;ENSP00000399588:P381L	ENSP00000358581:P381L	P	-	2	0	GAB3	153580966	0.935000	0.31712	0.002000	0.10522	0.210000	0.24377	1.368000	0.34216	0.210000	0.20664	-0.297000	0.09499	CCG		PASS	0.547	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		9	28	9	28	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228469780	228469781	+	Frame_Shift_Ins	INS	-	-	T	rs375216125		TCGA-34-5236-01A-21D-1817-08	TCGA-34-5236-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	46cb2de7-bbe1-4444-b17e-4c5677a05249	9ec4b506-a4ac-4cbd-b74d-5ac9b30782c7	g.chr1:228469780_228469781insT	ENST00000422127.1	+	31	8388_8389	c.8344_8345insT	c.(8344-8346)cgcfs	p.R2782fs	OBSCN_ENST00000359599.6_Frame_Shift_Ins_p.R1629fs|OBSCN_ENST00000284548.11_Frame_Shift_Ins_p.R2782fs|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Frame_Shift_Ins_p.R3211fs|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2782	Ig-like 27.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCTCCAGCCGCTTCCAGGCC	0.644																																						uc009xez.1																			0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(8344-8346)CGCfs		obscurin, cytoskeletal calmodulin and																																				SO:0001589	frameshift_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228469780_228469781insT	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	Exception_encountered	1.37:g.228469780_228469781insT	ENSP00000409493:p.Arg2782fs					OBSCN_uc001hsn.2_Frame_Shift_Ins_p.R2782fs|OBSCN_uc001hsp.1_Frame_Shift_Ins_p.R481fs|OBSCN_uc001hsq.1_Frame_Shift_Ins_p.R38fs	p.R2782fs	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			31	8388_8389	+		Prostate(94;0.0405)	2782			Ig-like 27.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Ins	INS	ENST00000422127.1	37	c.8344_8345insT	CCDS58065.1																																																																																					0.644	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		32	14	32	14	---	---	---	---
